Incidental Mutation 'R0617:Cacna1c'
| ID |
58421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1c
|
| Ensembl Gene |
ENSMUSG00000051331 |
| Gene Name |
calcium channel, voltage-dependent, L type, alpha 1C subunit |
| Synonyms |
(alpha)1 subunit, Cav1.2, Cchl1a1, D930026N18Rik, L-type Cav1.2 |
| MMRRC Submission |
038806-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.432)
|
| Stock # |
R0617 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
118564201-119173851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118579174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1599
(Y1599C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075591]
[ENSMUST00000078320]
[ENSMUST00000112790]
[ENSMUST00000112793]
[ENSMUST00000112825]
[ENSMUST00000185345]
[ENSMUST00000186889]
[ENSMUST00000188522]
[ENSMUST00000187940]
[ENSMUST00000187386]
[ENSMUST00000187474]
[ENSMUST00000187317]
[ENSMUST00000190285]
[ENSMUST00000188106]
[ENSMUST00000188865]
[ENSMUST00000189389]
[ENSMUST00000188078]
[ENSMUST00000189520]
[ENSMUST00000219018]
[ENSMUST00000219223]
[ENSMUST00000220022]
[ENSMUST00000219833]
|
| AlphaFold |
Q01815 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075591
AA Change: Y1758C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075021
Gene: ENSMUSG00000051331
AA Change: Y1758C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
2 |
245 |
3.5e-60 |
PFAM |
|
PDB:4DEY|B
|
246 |
369 |
2e-57 |
PDB |
|
low complexity region
|
370 |
384 |
N/A |
INTRINSIC |
|
transmembrane domain
|
390 |
409 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
424 |
618 |
1.3e-46 |
PFAM |
|
low complexity region
|
633 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
663 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
718 |
N/A |
INTRINSIC |
|
transmembrane domain
|
762 |
784 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
801 |
1031 |
2.6e-51 |
PFAM |
|
Pfam:PKD_channel
|
1095 |
1348 |
2.7e-10 |
PFAM |
|
Pfam:Ion_trans
|
1119 |
1341 |
3.9e-70 |
PFAM |
|
Blast:EFh
|
1362 |
1390 |
4e-9 |
BLAST |
|
Ca_chan_IQ
|
1476 |
1510 |
3.28e-15 |
SMART |
|
low complexity region
|
1630 |
1640 |
N/A |
INTRINSIC |
|
low complexity region
|
1810 |
1824 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078320
AA Change: Y1758C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077433
Gene: ENSMUSG00000051331
AA Change: Y1758C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
2 |
245 |
1.4e-59 |
PFAM |
|
PDB:4DEY|B
|
246 |
344 |
4e-63 |
PDB |
|
low complexity region
|
345 |
359 |
N/A |
INTRINSIC |
|
transmembrane domain
|
365 |
384 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
399 |
593 |
5.2e-46 |
PFAM |
|
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
638 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
693 |
N/A |
INTRINSIC |
|
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
776 |
1006 |
2.5e-51 |
PFAM |
|
Pfam:PKD_channel
|
1070 |
1323 |
1.1e-9 |
PFAM |
|
Pfam:Ion_trans
|
1094 |
1316 |
1.5e-69 |
PFAM |
|
Blast:EFh
|
1337 |
1365 |
4e-9 |
BLAST |
|
Ca_chan_IQ
|
1451 |
1485 |
3.28e-15 |
SMART |
|
low complexity region
|
1605 |
1615 |
N/A |
INTRINSIC |
|
low complexity region
|
1785 |
1799 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112790
AA Change: Y1758C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108410
Gene: ENSMUSG00000051331
AA Change: Y1758C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
2 |
245 |
5.7e-60 |
PFAM |
|
PDB:4DEY|B
|
246 |
344 |
4e-63 |
PDB |
|
low complexity region
|
345 |
359 |
N/A |
INTRINSIC |
|
transmembrane domain
|
365 |
384 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
399 |
593 |
2.1e-46 |
PFAM |
|
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
638 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
693 |
N/A |
INTRINSIC |
|
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
776 |
1006 |
1e-51 |
PFAM |
|
Pfam:Ion_trans
|
1094 |
1305 |
1.1e-66 |
PFAM |
|
Pfam:PKD_channel
|
1140 |
1312 |
1.3e-8 |
PFAM |
|
Blast:EFh
|
1326 |
1354 |
4e-9 |
BLAST |
|
Ca_chan_IQ
|
1440 |
1474 |
3.28e-15 |
SMART |
|
low complexity region
|
1594 |
1604 |
N/A |
INTRINSIC |
|
low complexity region
|
1774 |
1788 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112793
AA Change: Y1841C
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108413
Gene: ENSMUSG00000051331
AA Change: Y1841C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
1 |
257 |
1.8e-64 |
PFAM |
|
Pfam:PKD_channel
|
379 |
624 |
5.8e-8 |
PFAM |
|
Pfam:Ion_trans
|
389 |
630 |
5e-56 |
PFAM |
|
low complexity region
|
633 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
663 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
718 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
765 |
1043 |
8.7e-64 |
PFAM |
|
Pfam:Ion_trans
|
1084 |
1411 |
6.4e-69 |
PFAM |
|
Pfam:PKD_channel
|
1234 |
1406 |
9.2e-9 |
PFAM |
|
Pfam:GPHH
|
1413 |
1482 |
7.7e-40 |
PFAM |
|
Ca_chan_IQ
|
1534 |
1568 |
3.28e-15 |
SMART |
|
Pfam:CAC1F_C
|
1577 |
2060 |
3.5e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112825
AA Change: Y1488C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108444
Gene: ENSMUSG00000051331
AA Change: Y1488C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
1 |
140 |
1.8e-31 |
PFAM |
|
PDB:4DEY|B
|
141 |
264 |
1e-54 |
PDB |
|
low complexity region
|
265 |
279 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
319 |
513 |
2e-46 |
PFAM |
|
low complexity region
|
528 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
613 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
659 |
906 |
1e-43 |
PFAM |
|
Pfam:Ion_trans
|
994 |
1205 |
7.1e-70 |
PFAM |
|
Pfam:PKD_channel
|
1041 |
1212 |
1.6e-8 |
PFAM |
|
Blast:EFh
|
1226 |
1254 |
4e-9 |
BLAST |
|
Ca_chan_IQ
|
1340 |
1374 |
3.28e-15 |
SMART |
|
low complexity region
|
1494 |
1504 |
N/A |
INTRINSIC |
|
low complexity region
|
1674 |
1688 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185345
AA Change: Y1778C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140833
Gene: ENSMUSG00000051331
AA Change: Y1778C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
161 |
404 |
8.6e-60 |
PFAM |
|
PDB:4DEY|B
|
405 |
503 |
3e-63 |
PDB |
|
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
|
transmembrane domain
|
524 |
543 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
558 |
752 |
1.4e-44 |
PFAM |
|
low complexity region
|
767 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
852 |
N/A |
INTRINSIC |
|
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
|
transmembrane domain
|
931 |
953 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
955 |
1185 |
2.2e-50 |
PFAM |
|
Pfam:PKD_channel
|
1250 |
1502 |
6.9e-9 |
PFAM |
|
Pfam:Ion_trans
|
1273 |
1495 |
6.4e-65 |
PFAM |
|
Blast:EFh
|
1516 |
1544 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1630 |
1664 |
2.5e-19 |
SMART |
|
low complexity region
|
1784 |
1794 |
N/A |
INTRINSIC |
|
low complexity region
|
1964 |
1978 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186889
AA Change: Y1788C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140056
Gene: ENSMUSG00000051331
AA Change: Y1788C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
191 |
434 |
1.5e-59 |
PFAM |
|
PDB:4DEY|B
|
435 |
533 |
5e-63 |
PDB |
|
low complexity region
|
534 |
548 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
588 |
782 |
5.6e-46 |
PFAM |
|
low complexity region
|
797 |
807 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
882 |
N/A |
INTRINSIC |
|
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
965 |
1195 |
2.7e-51 |
PFAM |
|
Pfam:PKD_channel
|
1261 |
1512 |
1.3e-9 |
PFAM |
|
Pfam:Ion_trans
|
1283 |
1505 |
1.7e-69 |
PFAM |
|
Blast:EFh
|
1526 |
1554 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1640 |
1674 |
3.28e-15 |
SMART |
|
low complexity region
|
1794 |
1804 |
N/A |
INTRINSIC |
|
low complexity region
|
1974 |
1988 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188522
AA Change: Y1783C
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140920
Gene: ENSMUSG00000051331
AA Change: Y1783C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
161 |
404 |
8.7e-60 |
PFAM |
|
PDB:4DEY|B
|
405 |
528 |
2e-57 |
PDB |
|
low complexity region
|
529 |
543 |
N/A |
INTRINSIC |
|
transmembrane domain
|
549 |
568 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
583 |
777 |
1.4e-44 |
PFAM |
|
low complexity region
|
792 |
802 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
877 |
N/A |
INTRINSIC |
|
transmembrane domain
|
921 |
943 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
960 |
1190 |
2.9e-49 |
PFAM |
|
Pfam:PKD_channel
|
1255 |
1507 |
7e-9 |
PFAM |
|
Pfam:Ion_trans
|
1278 |
1500 |
6.4e-65 |
PFAM |
|
Blast:EFh
|
1521 |
1549 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1635 |
1669 |
2.5e-19 |
SMART |
|
low complexity region
|
1789 |
1799 |
N/A |
INTRINSIC |
|
low complexity region
|
1969 |
1983 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187940
AA Change: Y1788C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141033
Gene: ENSMUSG00000051331
AA Change: Y1788C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
191 |
434 |
7.6e-60 |
PFAM |
|
PDB:4DEY|B
|
435 |
533 |
4e-63 |
PDB |
|
low complexity region
|
534 |
548 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
588 |
782 |
2.8e-46 |
PFAM |
|
low complexity region
|
797 |
807 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
882 |
N/A |
INTRINSIC |
|
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
965 |
1195 |
5.6e-51 |
PFAM |
|
Pfam:PKD_channel
|
1260 |
1512 |
5.8e-11 |
PFAM |
|
Pfam:Ion_trans
|
1283 |
1505 |
1.2e-66 |
PFAM |
|
Blast:EFh
|
1526 |
1554 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1640 |
1674 |
3.28e-15 |
SMART |
|
low complexity region
|
1794 |
1804 |
N/A |
INTRINSIC |
|
low complexity region
|
1974 |
1988 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187386
AA Change: Y1754C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140341
Gene: ENSMUSG00000051331
AA Change: Y1754C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
132 |
375 |
8.5e-60 |
PFAM |
|
PDB:4DEY|B
|
376 |
499 |
1e-57 |
PDB |
|
low complexity region
|
500 |
514 |
N/A |
INTRINSIC |
|
transmembrane domain
|
520 |
539 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
554 |
748 |
1.4e-44 |
PFAM |
|
low complexity region
|
763 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
793 |
805 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
848 |
N/A |
INTRINSIC |
|
transmembrane domain
|
892 |
914 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
931 |
1161 |
2.9e-49 |
PFAM |
|
Pfam:PKD_channel
|
1226 |
1478 |
6.8e-9 |
PFAM |
|
Pfam:Ion_trans
|
1249 |
1471 |
6.3e-65 |
PFAM |
|
Blast:EFh
|
1492 |
1520 |
4e-9 |
BLAST |
|
Ca_chan_IQ
|
1606 |
1640 |
2.5e-19 |
SMART |
|
low complexity region
|
1760 |
1770 |
N/A |
INTRINSIC |
|
low complexity region
|
1940 |
1954 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187474
AA Change: Y1788C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140961
Gene: ENSMUSG00000051331
AA Change: Y1788C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
191 |
434 |
7.6e-60 |
PFAM |
|
PDB:4DEY|B
|
435 |
533 |
4e-63 |
PDB |
|
low complexity region
|
534 |
548 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
588 |
782 |
2.8e-46 |
PFAM |
|
low complexity region
|
797 |
807 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
882 |
N/A |
INTRINSIC |
|
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
965 |
1195 |
5.6e-51 |
PFAM |
|
Pfam:PKD_channel
|
1261 |
1512 |
7.3e-10 |
PFAM |
|
Pfam:Ion_trans
|
1283 |
1505 |
8.3e-70 |
PFAM |
|
Blast:EFh
|
1526 |
1554 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1640 |
1674 |
3.28e-15 |
SMART |
|
low complexity region
|
1794 |
1804 |
N/A |
INTRINSIC |
|
low complexity region
|
1974 |
1988 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187317
AA Change: Y1806C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140693
Gene: ENSMUSG00000051331
AA Change: Y1806C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
161 |
404 |
8.8e-60 |
PFAM |
|
PDB:4DEY|B
|
405 |
503 |
2e-63 |
PDB |
|
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
|
transmembrane domain
|
524 |
543 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
558 |
752 |
1.5e-44 |
PFAM |
|
low complexity region
|
767 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
852 |
N/A |
INTRINSIC |
|
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
|
transmembrane domain
|
931 |
953 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
955 |
1185 |
2.3e-50 |
PFAM |
|
Pfam:PKD_channel
|
1249 |
1530 |
8.3e-8 |
PFAM |
|
Pfam:Ion_trans
|
1273 |
1326 |
5e-16 |
PFAM |
|
Pfam:Ion_trans
|
1323 |
1523 |
2.5e-56 |
PFAM |
|
Blast:EFh
|
1544 |
1572 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1658 |
1692 |
2.5e-19 |
SMART |
|
low complexity region
|
1812 |
1822 |
N/A |
INTRINSIC |
|
low complexity region
|
1992 |
2006 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190285
AA Change: Y1813C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141015
Gene: ENSMUSG00000051331
AA Change: Y1813C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
|
transmembrane domain
|
155 |
177 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
191 |
434 |
4e-58 |
PFAM |
|
PDB:4DEY|B
|
435 |
558 |
2e-57 |
PDB |
|
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
|
transmembrane domain
|
579 |
598 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
613 |
807 |
1.5e-44 |
PFAM |
|
low complexity region
|
822 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
864 |
N/A |
INTRINSIC |
|
low complexity region
|
900 |
907 |
N/A |
INTRINSIC |
|
transmembrane domain
|
951 |
973 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
990 |
1220 |
3e-49 |
PFAM |
|
Pfam:PKD_channel
|
1285 |
1537 |
1.4e-7 |
PFAM |
|
Pfam:Ion_trans
|
1308 |
1530 |
4.4e-68 |
PFAM |
|
Blast:EFh
|
1551 |
1579 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1665 |
1699 |
2.5e-19 |
SMART |
|
low complexity region
|
1819 |
1829 |
N/A |
INTRINSIC |
|
low complexity region
|
1999 |
2013 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188106
AA Change: Y1772C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140886
Gene: ENSMUSG00000051331
AA Change: Y1772C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
161 |
404 |
8.5e-62 |
PFAM |
|
PDB:4DEY|B
|
405 |
528 |
2e-57 |
PDB |
|
low complexity region
|
529 |
543 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
583 |
777 |
1.4e-46 |
PFAM |
|
low complexity region
|
792 |
802 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
877 |
N/A |
INTRINSIC |
|
transmembrane domain
|
921 |
943 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
960 |
1190 |
2.9e-51 |
PFAM |
|
Pfam:Ion_trans
|
1278 |
1489 |
5.2e-70 |
PFAM |
|
Pfam:PKD_channel
|
1325 |
1496 |
4.8e-9 |
PFAM |
|
Blast:EFh
|
1510 |
1538 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1624 |
1658 |
3.28e-15 |
SMART |
|
low complexity region
|
1778 |
1788 |
N/A |
INTRINSIC |
|
low complexity region
|
1958 |
1972 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188865
AA Change: Y1758C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139981
Gene: ENSMUSG00000051331
AA Change: Y1758C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
161 |
404 |
8.5e-60 |
PFAM |
|
PDB:4DEY|B
|
405 |
503 |
5e-63 |
PDB |
|
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
|
transmembrane domain
|
524 |
543 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
558 |
752 |
1.4e-44 |
PFAM |
|
low complexity region
|
767 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
852 |
N/A |
INTRINSIC |
|
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
935 |
1165 |
6.9e-50 |
PFAM |
|
Pfam:PKD_channel
|
1230 |
1482 |
6.8e-9 |
PFAM |
|
Pfam:Ion_trans
|
1253 |
1475 |
6.3e-65 |
PFAM |
|
Blast:EFh
|
1496 |
1524 |
4e-9 |
BLAST |
|
Ca_chan_IQ
|
1610 |
1644 |
2.5e-19 |
SMART |
|
low complexity region
|
1764 |
1774 |
N/A |
INTRINSIC |
|
low complexity region
|
1944 |
1958 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189389
AA Change: Y1786C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139855
Gene: ENSMUSG00000051331
AA Change: Y1786C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
161 |
404 |
8.7e-60 |
PFAM |
|
PDB:4DEY|B
|
405 |
503 |
4e-63 |
PDB |
|
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
|
transmembrane domain
|
524 |
543 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
558 |
752 |
1.5e-44 |
PFAM |
|
low complexity region
|
767 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
852 |
N/A |
INTRINSIC |
|
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
935 |
1165 |
3e-49 |
PFAM |
|
Pfam:PKD_channel
|
1229 |
1510 |
8.2e-8 |
PFAM |
|
Pfam:Ion_trans
|
1253 |
1306 |
5e-16 |
PFAM |
|
Pfam:Ion_trans
|
1303 |
1503 |
2.5e-56 |
PFAM |
|
Blast:EFh
|
1524 |
1552 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1638 |
1672 |
2.5e-19 |
SMART |
|
low complexity region
|
1792 |
1802 |
N/A |
INTRINSIC |
|
low complexity region
|
1972 |
1986 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188078
AA Change: Y1758C
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140415
Gene: ENSMUSG00000051331
AA Change: Y1758C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
161 |
404 |
8.5e-60 |
PFAM |
|
PDB:4DEY|B
|
405 |
503 |
5e-63 |
PDB |
|
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
|
transmembrane domain
|
524 |
543 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
558 |
752 |
1.4e-44 |
PFAM |
|
low complexity region
|
767 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
852 |
N/A |
INTRINSIC |
|
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
935 |
1165 |
6.9e-50 |
PFAM |
|
Pfam:PKD_channel
|
1230 |
1482 |
9e-8 |
PFAM |
|
Pfam:Ion_trans
|
1253 |
1475 |
4.3e-68 |
PFAM |
|
Blast:EFh
|
1496 |
1524 |
4e-9 |
BLAST |
|
Ca_chan_IQ
|
1610 |
1644 |
2.5e-19 |
SMART |
|
low complexity region
|
1764 |
1774 |
N/A |
INTRINSIC |
|
low complexity region
|
1944 |
1958 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189520
AA Change: Y1775C
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000140220
Gene: ENSMUSG00000051331
AA Change: Y1775C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
161 |
404 |
8.6e-60 |
PFAM |
|
PDB:4DEY|B
|
405 |
503 |
4e-63 |
PDB |
|
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
|
transmembrane domain
|
524 |
543 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
558 |
752 |
1.4e-44 |
PFAM |
|
low complexity region
|
767 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
852 |
N/A |
INTRINSIC |
|
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
935 |
1165 |
7e-50 |
PFAM |
|
Pfam:PKD_channel
|
1229 |
1499 |
2.2e-9 |
PFAM |
|
Pfam:Ion_trans
|
1253 |
1305 |
6.6e-16 |
PFAM |
|
Pfam:Ion_trans
|
1301 |
1492 |
1.1e-56 |
PFAM |
|
Blast:EFh
|
1513 |
1541 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1627 |
1661 |
2.5e-19 |
SMART |
|
low complexity region
|
1781 |
1791 |
N/A |
INTRINSIC |
|
low complexity region
|
1961 |
1975 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188181
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219018
AA Change: Y1599C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219223
AA Change: Y1588C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220022
AA Change: Y1682C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219833
AA Change: Y1624C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.1439 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
98% (130/133) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance. Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 130 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555F03Rik |
A |
T |
8: 49,953,527 (GRCm39) |
|
noncoding transcript |
Het |
| A630073D07Rik |
T |
C |
6: 132,603,700 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
G |
A |
7: 120,032,834 (GRCm39) |
|
probably benign |
Het |
| Abca5 |
A |
T |
11: 110,170,515 (GRCm39) |
D1265E |
probably damaging |
Het |
| Abcf1 |
C |
T |
17: 36,272,079 (GRCm39) |
V312I |
probably benign |
Het |
| Abhd12 |
T |
A |
2: 150,688,285 (GRCm39) |
|
probably null |
Het |
| Adam23 |
A |
G |
1: 63,582,306 (GRCm39) |
H318R |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,826,725 (GRCm39) |
K660* |
probably null |
Het |
| Adgrf3 |
T |
C |
5: 30,400,078 (GRCm39) |
T972A |
probably benign |
Het |
| Adipoq |
T |
A |
16: 22,974,160 (GRCm39) |
D62E |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,910,578 (GRCm39) |
P43T |
probably damaging |
Het |
| Arap2 |
AT |
ATT |
5: 62,807,250 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
G |
T |
13: 98,106,863 (GRCm39) |
T687K |
probably benign |
Het |
| Arrb1 |
T |
C |
7: 99,243,884 (GRCm39) |
L278P |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 4,987,401 (GRCm39) |
D76E |
probably benign |
Het |
| Atm |
A |
T |
9: 53,370,241 (GRCm39) |
Y2290* |
probably null |
Het |
| Atrn |
T |
A |
2: 130,837,005 (GRCm39) |
|
probably null |
Het |
| Bpifb1 |
A |
G |
2: 154,054,867 (GRCm39) |
D253G |
possibly damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,161,545 (GRCm39) |
T559M |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,984,439 (GRCm39) |
E3205G |
unknown |
Het |
| Ccdc40 |
A |
G |
11: 119,133,630 (GRCm39) |
D590G |
probably damaging |
Het |
| Ccdc68 |
A |
G |
18: 70,079,623 (GRCm39) |
|
probably null |
Het |
| Ccdc97 |
G |
A |
7: 25,413,845 (GRCm39) |
R279C |
probably damaging |
Het |
| Ccm2l |
A |
G |
2: 152,912,820 (GRCm39) |
T120A |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,665,512 (GRCm39) |
|
probably benign |
Het |
| Cfh |
A |
G |
1: 140,028,621 (GRCm39) |
S1043P |
probably benign |
Het |
| Chil3 |
T |
C |
3: 106,063,072 (GRCm39) |
K173E |
probably benign |
Het |
| Cib2 |
T |
C |
9: 54,461,780 (GRCm39) |
D26G |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,019,881 (GRCm39) |
V84A |
probably damaging |
Het |
| Csn3 |
T |
C |
5: 88,077,730 (GRCm39) |
Y79H |
probably benign |
Het |
| Ddx47 |
T |
A |
6: 134,994,085 (GRCm39) |
V149E |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 148,934,760 (GRCm39) |
|
probably benign |
Het |
| Desi1 |
T |
C |
15: 81,882,399 (GRCm39) |
N109D |
probably damaging |
Het |
| Fam13c |
T |
C |
10: 70,372,182 (GRCm39) |
|
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,435,591 (GRCm39) |
D264E |
probably benign |
Het |
| Fanca |
A |
G |
8: 124,014,809 (GRCm39) |
F831S |
probably damaging |
Het |
| Fancm |
C |
T |
12: 65,144,091 (GRCm39) |
R518* |
probably null |
Het |
| Fat2 |
A |
G |
11: 55,202,669 (GRCm39) |
V135A |
possibly damaging |
Het |
| Fbxl17 |
A |
C |
17: 63,691,987 (GRCm39) |
F42V |
probably damaging |
Het |
| Fgd3 |
A |
T |
13: 49,418,173 (GRCm39) |
V631E |
possibly damaging |
Het |
| Fhod3 |
G |
A |
18: 25,245,736 (GRCm39) |
|
probably benign |
Het |
| Focad |
T |
C |
4: 88,039,525 (GRCm39) |
|
probably benign |
Het |
| Foxn4 |
C |
A |
5: 114,399,129 (GRCm39) |
|
probably benign |
Het |
| Gm2381 |
A |
T |
7: 42,469,402 (GRCm39) |
C241S |
probably damaging |
Het |
| Gm6483 |
T |
G |
8: 19,743,725 (GRCm39) |
F117V |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,481,295 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,455,027 (GRCm39) |
Q676L |
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,724,420 (GRCm39) |
R437C |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,298,570 (GRCm39) |
Y396H |
probably damaging |
Het |
| Ints5 |
A |
T |
19: 8,873,383 (GRCm39) |
K447N |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,666,952 (GRCm39) |
Y495C |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,264,742 (GRCm39) |
|
probably null |
Het |
| Kcnk4 |
T |
A |
19: 6,905,528 (GRCm39) |
|
probably benign |
Het |
| Kmo |
A |
G |
1: 175,474,756 (GRCm39) |
T174A |
possibly damaging |
Het |
| Krt36 |
T |
C |
11: 99,993,101 (GRCm39) |
D458G |
probably damaging |
Het |
| Krtap16-1 |
G |
T |
11: 99,877,321 (GRCm39) |
P28T |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,552,315 (GRCm39) |
|
probably null |
Het |
| Lrrc9 |
T |
C |
12: 72,529,788 (GRCm39) |
S920P |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,636,481 (GRCm39) |
Y1485F |
probably benign |
Het |
| Mical1 |
C |
T |
10: 41,357,311 (GRCm39) |
A372V |
probably damaging |
Het |
| Ms4a20 |
C |
A |
19: 11,089,764 (GRCm39) |
L40F |
probably damaging |
Het |
| Mtr |
C |
T |
13: 12,236,318 (GRCm39) |
R636Q |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,570,925 (GRCm39) |
T662S |
possibly damaging |
Het |
| Myo10 |
G |
A |
15: 25,738,091 (GRCm39) |
V546M |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,320,991 (GRCm39) |
W2034* |
probably null |
Het |
| Nhlrc3 |
T |
C |
3: 53,366,044 (GRCm39) |
T150A |
probably damaging |
Het |
| Nicol1 |
T |
C |
5: 34,140,896 (GRCm39) |
|
probably benign |
Het |
| Nkx2-1 |
T |
C |
12: 56,581,640 (GRCm39) |
H69R |
possibly damaging |
Het |
| Nlrp4g |
A |
T |
9: 124,349,540 (GRCm38) |
|
noncoding transcript |
Het |
| Nod2 |
A |
G |
8: 89,379,859 (GRCm39) |
N120S |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,807,921 (GRCm39) |
F46L |
possibly damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,691,240 (GRCm39) |
D308G |
possibly damaging |
Het |
| Oog3 |
A |
T |
4: 143,886,784 (GRCm39) |
V112D |
probably benign |
Het |
| Or10ag58 |
A |
G |
2: 87,265,005 (GRCm39) |
D58G |
probably damaging |
Het |
| Or4a66 |
A |
G |
2: 88,531,040 (GRCm39) |
V211A |
probably damaging |
Het |
| Or51i1 |
A |
T |
7: 103,671,196 (GRCm39) |
S110T |
probably damaging |
Het |
| Or5af2 |
T |
C |
11: 58,707,975 (GRCm39) |
V47A |
probably damaging |
Het |
| Or5b106 |
T |
C |
19: 13,123,727 (GRCm39) |
M99V |
probably benign |
Het |
| Or5b120 |
C |
A |
19: 13,479,900 (GRCm39) |
N64K |
probably damaging |
Het |
| Or5m9b |
A |
G |
2: 85,905,485 (GRCm39) |
M134V |
probably benign |
Het |
| Or9s18 |
A |
T |
13: 65,300,692 (GRCm39) |
Y218F |
possibly damaging |
Het |
| Pakap |
T |
C |
4: 57,829,434 (GRCm39) |
|
probably benign |
Het |
| Pcdhb8 |
C |
T |
18: 37,490,100 (GRCm39) |
R593C |
probably benign |
Het |
| Pgm3 |
A |
G |
9: 86,438,243 (GRCm39) |
|
probably null |
Het |
| Pirt |
T |
A |
11: 66,816,998 (GRCm39) |
V103E |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,635,230 (GRCm39) |
D1332V |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,256,518 (GRCm39) |
V122E |
probably damaging |
Het |
| Pramel14 |
A |
G |
4: 143,720,088 (GRCm39) |
|
probably benign |
Het |
| Prmt2 |
C |
T |
10: 76,044,517 (GRCm39) |
|
probably benign |
Het |
| Prrc2a |
G |
T |
17: 35,372,536 (GRCm39) |
P1702T |
probably damaging |
Het |
| Prss39 |
A |
T |
1: 34,539,279 (GRCm39) |
H173L |
probably damaging |
Het |
| Rabl6 |
A |
G |
2: 25,476,878 (GRCm39) |
|
probably null |
Het |
| Rb1cc1 |
T |
A |
1: 6,319,014 (GRCm39) |
I794K |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,125,535 (GRCm39) |
D2716G |
probably damaging |
Het |
| Sbf2 |
ACC |
AC |
7: 109,929,890 (GRCm39) |
|
probably null |
Het |
| Sema6d |
T |
A |
2: 124,502,665 (GRCm39) |
F583L |
possibly damaging |
Het |
| Setx |
T |
A |
2: 29,036,819 (GRCm39) |
H1101Q |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,872,938 (GRCm39) |
C67R |
probably damaging |
Het |
| Skint1 |
T |
A |
4: 111,886,596 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
C |
A |
11: 75,053,757 (GRCm39) |
T1413K |
probably benign |
Het |
| Spata31d1a |
A |
T |
13: 59,850,073 (GRCm39) |
I685N |
possibly damaging |
Het |
| Spef2 |
T |
A |
15: 9,592,844 (GRCm39) |
N1499I |
probably damaging |
Het |
| Stk11ip |
T |
A |
1: 75,508,932 (GRCm39) |
|
probably null |
Het |
| Stxbp1 |
A |
C |
2: 32,692,795 (GRCm39) |
I407S |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,117,002 (GRCm39) |
S2059P |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 5,300,933 (GRCm39) |
V932M |
probably damaging |
Het |
| Tacc1 |
A |
C |
8: 25,668,020 (GRCm39) |
|
probably benign |
Het |
| Tbc1d13 |
C |
A |
2: 30,025,576 (GRCm39) |
|
probably benign |
Het |
| Tbc1d15 |
A |
C |
10: 115,075,204 (GRCm39) |
D59E |
probably damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,619,445 (GRCm39) |
F194S |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,127 (GRCm39) |
M5K |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,987,388 (GRCm39) |
D40E |
probably benign |
Het |
| Tm4sf5 |
T |
A |
11: 70,401,495 (GRCm39) |
S165T |
probably damaging |
Het |
| Tmprss3 |
A |
T |
17: 31,412,886 (GRCm39) |
C129S |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,502,740 (GRCm39) |
D256G |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,695,673 (GRCm39) |
D532G |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,762,494 (GRCm39) |
H465L |
unknown |
Het |
| Togaram2 |
A |
T |
17: 72,007,504 (GRCm39) |
Q350L |
possibly damaging |
Het |
| Topaz1 |
G |
A |
9: 122,578,971 (GRCm39) |
C627Y |
possibly damaging |
Het |
| Tpx2 |
A |
T |
2: 152,715,058 (GRCm39) |
Q93L |
probably benign |
Het |
| Trim54 |
T |
C |
5: 31,293,526 (GRCm39) |
|
probably null |
Het |
| Troap |
T |
A |
15: 98,980,541 (GRCm39) |
C574S |
probably damaging |
Het |
| Tut7 |
A |
T |
13: 59,964,669 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,206,373 (GRCm39) |
|
probably null |
Het |
| Vmn2r51 |
A |
G |
7: 9,834,396 (GRCm39) |
V214A |
possibly damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,484 (GRCm39) |
M642K |
probably benign |
Het |
| Vwa5a |
T |
A |
9: 38,635,191 (GRCm39) |
I232N |
probably damaging |
Het |
| Zfp820 |
A |
T |
17: 22,038,685 (GRCm39) |
S214R |
probably damaging |
Het |
| Zfp955b |
A |
T |
17: 33,524,437 (GRCm39) |
S43R |
probably damaging |
Het |
| Zgrf1 |
C |
T |
3: 127,381,687 (GRCm39) |
T1162M |
probably benign |
Het |
|
| Other mutations in Cacna1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Cacna1c
|
APN |
6 |
118,653,405 (GRCm39) |
splice site |
probably benign |
|
|
IGL00990:Cacna1c
|
APN |
6 |
118,590,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01352:Cacna1c
|
APN |
6 |
118,633,518 (GRCm39) |
nonsense |
probably null |
|
|
IGL01922:Cacna1c
|
APN |
6 |
118,629,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02008:Cacna1c
|
APN |
6 |
118,692,885 (GRCm39) |
missense |
probably null |
0.25 |
|
IGL02049:Cacna1c
|
APN |
6 |
118,580,880 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02320:Cacna1c
|
APN |
6 |
118,614,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02375:Cacna1c
|
APN |
6 |
118,652,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02454:Cacna1c
|
APN |
6 |
118,579,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02544:Cacna1c
|
APN |
6 |
118,728,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02648:Cacna1c
|
APN |
6 |
118,734,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03191:Cacna1c
|
APN |
6 |
118,718,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Being
|
UTSW |
6 |
118,629,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Kundera
|
UTSW |
6 |
118,590,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
unbearable
|
UTSW |
6 |
118,575,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4418001:Cacna1c
|
UTSW |
6 |
118,631,384 (GRCm39) |
missense |
|
|
|
PIT4469001:Cacna1c
|
UTSW |
6 |
118,572,933 (GRCm39) |
missense |
unknown |
|
|
R0041:Cacna1c
|
UTSW |
6 |
118,570,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0062:Cacna1c
|
UTSW |
6 |
118,579,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Cacna1c
|
UTSW |
6 |
118,579,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0083:Cacna1c
|
UTSW |
6 |
118,602,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Cacna1c
|
UTSW |
6 |
118,602,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Cacna1c
|
UTSW |
6 |
118,580,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Cacna1c
|
UTSW |
6 |
118,579,363 (GRCm39) |
splice site |
probably benign |
|
|
R0245:Cacna1c
|
UTSW |
6 |
118,581,415 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0394:Cacna1c
|
UTSW |
6 |
118,602,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Cacna1c
|
UTSW |
6 |
118,579,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Cacna1c
|
UTSW |
6 |
118,607,224 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0828:Cacna1c
|
UTSW |
6 |
118,734,347 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0837:Cacna1c
|
UTSW |
6 |
118,607,231 (GRCm39) |
nonsense |
probably null |
|
|
R0881:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0882:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Cacna1c
|
UTSW |
6 |
118,652,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0930:Cacna1c
|
UTSW |
6 |
118,652,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1157:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1158:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1159:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1237:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1238:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1239:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1337:Cacna1c
|
UTSW |
6 |
118,604,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Cacna1c
|
UTSW |
6 |
118,629,754 (GRCm39) |
nonsense |
probably null |
|
|
R1463:Cacna1c
|
UTSW |
6 |
118,570,955 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1517:Cacna1c
|
UTSW |
6 |
118,575,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1619:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1704:Cacna1c
|
UTSW |
6 |
118,579,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1739:Cacna1c
|
UTSW |
6 |
118,587,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1804:Cacna1c
|
UTSW |
6 |
118,664,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Cacna1c
|
UTSW |
6 |
118,753,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Cacna1c
|
UTSW |
6 |
118,583,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1961:Cacna1c
|
UTSW |
6 |
118,607,283 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2043:Cacna1c
|
UTSW |
6 |
118,573,049 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2045:Cacna1c
|
UTSW |
6 |
118,633,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2217:Cacna1c
|
UTSW |
6 |
118,647,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2237:Cacna1c
|
UTSW |
6 |
118,629,704 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2509:Cacna1c
|
UTSW |
6 |
118,711,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3157:Cacna1c
|
UTSW |
6 |
118,728,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3739:Cacna1c
|
UTSW |
6 |
118,718,913 (GRCm39) |
missense |
probably benign |
|
|
R3831:Cacna1c
|
UTSW |
6 |
118,581,424 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4319:Cacna1c
|
UTSW |
6 |
118,631,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4477:Cacna1c
|
UTSW |
6 |
118,607,200 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4571:Cacna1c
|
UTSW |
6 |
118,607,341 (GRCm39) |
missense |
probably benign |
|
|
R4671:Cacna1c
|
UTSW |
6 |
118,629,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Cacna1c
|
UTSW |
6 |
118,633,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4741:Cacna1c
|
UTSW |
6 |
118,590,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Cacna1c
|
UTSW |
6 |
118,607,263 (GRCm39) |
nonsense |
probably null |
|
|
R4803:Cacna1c
|
UTSW |
6 |
118,728,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4821:Cacna1c
|
UTSW |
6 |
118,673,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Cacna1c
|
UTSW |
6 |
118,728,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Cacna1c
|
UTSW |
6 |
118,728,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5253:Cacna1c
|
UTSW |
6 |
118,574,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5297:Cacna1c
|
UTSW |
6 |
118,719,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5345:Cacna1c
|
UTSW |
6 |
118,633,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5364:Cacna1c
|
UTSW |
6 |
118,633,504 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5439:Cacna1c
|
UTSW |
6 |
118,631,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5472:Cacna1c
|
UTSW |
6 |
118,615,407 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5516:Cacna1c
|
UTSW |
6 |
119,034,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Cacna1c
|
UTSW |
6 |
118,664,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Cacna1c
|
UTSW |
6 |
118,719,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5684:Cacna1c
|
UTSW |
6 |
118,664,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5737:Cacna1c
|
UTSW |
6 |
118,718,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5768:Cacna1c
|
UTSW |
6 |
118,674,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Cacna1c
|
UTSW |
6 |
118,589,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5965:Cacna1c
|
UTSW |
6 |
118,579,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Cacna1c
|
UTSW |
6 |
118,573,101 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6161:Cacna1c
|
UTSW |
6 |
119,034,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Cacna1c
|
UTSW |
6 |
118,629,675 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6267:Cacna1c
|
UTSW |
6 |
118,575,684 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6296:Cacna1c
|
UTSW |
6 |
118,629,675 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6296:Cacna1c
|
UTSW |
6 |
118,575,684 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6307:Cacna1c
|
UTSW |
6 |
118,590,914 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6431:Cacna1c
|
UTSW |
6 |
118,728,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6467:Cacna1c
|
UTSW |
6 |
118,629,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Cacna1c
|
UTSW |
6 |
118,614,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7049:Cacna1c
|
UTSW |
6 |
118,578,124 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7072:Cacna1c
|
UTSW |
6 |
118,573,067 (GRCm39) |
missense |
|
|
|
R7192:Cacna1c
|
UTSW |
6 |
118,633,210 (GRCm39) |
missense |
|
|
|
R7243:Cacna1c
|
UTSW |
6 |
118,614,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7250:Cacna1c
|
UTSW |
6 |
118,673,412 (GRCm39) |
missense |
|
|
|
R7250:Cacna1c
|
UTSW |
6 |
118,574,966 (GRCm39) |
missense |
|
|
|
R7264:Cacna1c
|
UTSW |
6 |
118,579,156 (GRCm39) |
missense |
|
|
|
R7312:Cacna1c
|
UTSW |
6 |
119,034,172 (GRCm39) |
missense |
|
|
|
R7392:Cacna1c
|
UTSW |
6 |
118,718,881 (GRCm39) |
missense |
|
|
|
R7401:Cacna1c
|
UTSW |
6 |
119,029,669 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7449:Cacna1c
|
UTSW |
6 |
118,579,310 (GRCm39) |
missense |
|
|
|
R7451:Cacna1c
|
UTSW |
6 |
118,570,981 (GRCm39) |
missense |
unknown |
|
|
R7491:Cacna1c
|
UTSW |
6 |
118,590,304 (GRCm39) |
missense |
|
|
|
R7507:Cacna1c
|
UTSW |
6 |
119,034,200 (GRCm39) |
missense |
|
|
|
R7573:Cacna1c
|
UTSW |
6 |
118,581,406 (GRCm39) |
missense |
|
|
|
R7702:Cacna1c
|
UTSW |
6 |
118,575,727 (GRCm39) |
missense |
|
|
|
R7745:Cacna1c
|
UTSW |
6 |
119,029,587 (GRCm39) |
missense |
|
|
|
R7834:Cacna1c
|
UTSW |
6 |
118,587,542 (GRCm39) |
missense |
|
|
|
R7867:Cacna1c
|
UTSW |
6 |
118,753,407 (GRCm39) |
missense |
|
|
|
R8199:Cacna1c
|
UTSW |
6 |
118,651,545 (GRCm39) |
missense |
probably benign |
|
|
R8252:Cacna1c
|
UTSW |
6 |
118,634,335 (GRCm39) |
missense |
|
|
|
R8300:Cacna1c
|
UTSW |
6 |
118,575,717 (GRCm39) |
missense |
|
|
|
R8319:Cacna1c
|
UTSW |
6 |
118,614,735 (GRCm39) |
missense |
|
|
|
R8331:Cacna1c
|
UTSW |
6 |
118,607,290 (GRCm39) |
missense |
|
|
|
R8446:Cacna1c
|
UTSW |
6 |
118,604,411 (GRCm39) |
missense |
|
|
|
R8708:Cacna1c
|
UTSW |
6 |
118,604,416 (GRCm39) |
missense |
|
|
|
R8717:Cacna1c
|
UTSW |
6 |
119,034,314 (GRCm39) |
missense |
|
|
|
R8765:Cacna1c
|
UTSW |
6 |
118,580,844 (GRCm39) |
missense |
|
|
|
R8772:Cacna1c
|
UTSW |
6 |
118,579,283 (GRCm39) |
missense |
|
|
|
R8826:Cacna1c
|
UTSW |
6 |
118,711,836 (GRCm39) |
missense |
|
|
|
R8859:Cacna1c
|
UTSW |
6 |
118,653,280 (GRCm39) |
missense |
|
|
|
R8951:Cacna1c
|
UTSW |
6 |
118,590,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Cacna1c
|
UTSW |
6 |
118,719,232 (GRCm39) |
nonsense |
probably null |
|
|
R9013:Cacna1c
|
UTSW |
6 |
118,719,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Cacna1c
|
UTSW |
6 |
118,615,466 (GRCm39) |
nonsense |
probably null |
|
|
R9034:Cacna1c
|
UTSW |
6 |
118,728,359 (GRCm39) |
missense |
|
|
|
R9085:Cacna1c
|
UTSW |
6 |
118,615,466 (GRCm39) |
nonsense |
probably null |
|
|
R9130:Cacna1c
|
UTSW |
6 |
118,590,907 (GRCm39) |
missense |
|
|
|
R9197:Cacna1c
|
UTSW |
6 |
118,590,950 (GRCm39) |
missense |
|
|
|
R9249:Cacna1c
|
UTSW |
6 |
118,590,288 (GRCm39) |
missense |
|
|
|
R9276:Cacna1c
|
UTSW |
6 |
118,601,394 (GRCm39) |
missense |
|
|
|
R9331:Cacna1c
|
UTSW |
6 |
119,084,909 (GRCm39) |
missense |
|
|
|
R9342:Cacna1c
|
UTSW |
6 |
119,034,335 (GRCm39) |
missense |
|
|
|
R9606:Cacna1c
|
UTSW |
6 |
118,587,455 (GRCm39) |
missense |
|
|
|
R9697:Cacna1c
|
UTSW |
6 |
118,589,598 (GRCm39) |
missense |
|
|
|
R9755:Cacna1c
|
UTSW |
6 |
118,651,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9773:Cacna1c
|
UTSW |
6 |
118,647,371 (GRCm39) |
missense |
|
|
|
X0065:Cacna1c
|
UTSW |
6 |
118,634,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cacna1c
|
UTSW |
6 |
118,674,698 (GRCm39) |
missense |
|
|
|
Z1177:Cacna1c
|
UTSW |
6 |
118,734,622 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTAGGAGATGGCTTGACCCAAC -3'
(R):5'- TGTTCGGCAACCATGTCACCTAC -3'
Sequencing Primer
(F):5'- CTGTTCTGACCCTGAAGGGAAG -3'
(R):5'- GTCACCTACTATCAGAGTGACAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation