Incidental Mutation 'R0131:Cacna1c'
| ID |
21638 |
| 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 |
038416-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.453)
|
| Stock # |
R0131 (G1)
|
| Quality Score |
132 |
|
Status
|
Validated
(trace)
|
| Chromosome |
6 |
| Chromosomal Location |
118564201-119173851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118602473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1428
(I1428V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075591]
[ENSMUST00000078320]
[ENSMUST00000112790]
[ENSMUST00000112793]
[ENSMUST00000112825]
[ENSMUST00000185345]
[ENSMUST00000186889]
[ENSMUST00000187474]
[ENSMUST00000188106]
[ENSMUST00000188865]
[ENSMUST00000189389]
[ENSMUST00000187940]
[ENSMUST00000187386]
[ENSMUST00000189520]
[ENSMUST00000188078]
[ENSMUST00000187317]
[ENSMUST00000188522]
[ENSMUST00000190285]
[ENSMUST00000219018]
[ENSMUST00000220022]
[ENSMUST00000219223]
[ENSMUST00000219833]
|
| AlphaFold |
Q01815 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075591
AA Change: I1373V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075021
Gene: ENSMUSG00000051331
AA Change: I1373V
| 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: I1373V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077433
Gene: ENSMUSG00000051331
AA Change: I1373V
| 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: I1373V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108410
Gene: ENSMUSG00000051331
AA Change: I1373V
| 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: I1456V
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108413
Gene: ENSMUSG00000051331
AA Change: I1456V
| 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: I1103V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108444
Gene: ENSMUSG00000051331
AA Change: I1103V
| 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: I1393V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140833
Gene: ENSMUSG00000051331
AA Change: I1393V
| 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: I1403V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140056
Gene: ENSMUSG00000051331
AA Change: I1403V
| 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 |
probably damaging
Transcript: ENSMUST00000187474
AA Change: I1403V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140961
Gene: ENSMUSG00000051331
AA Change: I1403V
| 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: ENSMUST00000188106
AA Change: I1387V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140886
Gene: ENSMUSG00000051331
AA Change: I1387V
| 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: I1373V
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139981
Gene: ENSMUSG00000051331
AA Change: I1373V
| 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: I1401V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139855
Gene: ENSMUSG00000051331
AA Change: I1401V
| 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: ENSMUST00000187940
AA Change: I1403V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141033
Gene: ENSMUSG00000051331
AA Change: I1403V
| 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: I1369V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140341
Gene: ENSMUSG00000051331
AA Change: I1369V
| 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: ENSMUST00000189520
AA Change: I1390V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140220
Gene: ENSMUSG00000051331
AA Change: I1390V
| 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 |
probably damaging
Transcript: ENSMUST00000188078
AA Change: I1373V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140415
Gene: ENSMUSG00000051331
AA Change: I1373V
| 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 damaging
Transcript: ENSMUST00000187317
AA Change: I1421V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140693
Gene: ENSMUSG00000051331
AA Change: I1421V
| 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: ENSMUST00000188522
AA Change: I1398V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140920
Gene: ENSMUSG00000051331
AA Change: I1398V
| 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: ENSMUST00000190285
AA Change: I1428V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141015
Gene: ENSMUSG00000051331
AA Change: I1428V
| 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 |
noncoding transcript
Transcript: ENSMUST00000187849
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188181
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219018
AA Change: I1214V
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220022
AA Change: I1297V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219223
AA Change: I1203V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219833
AA Change: I1239V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.4322 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.2%
- 10x: 90.2%
- 20x: 71.5%
|
| Validation Efficiency |
87% (52/60) |
| 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: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,833,115 (GRCm39) |
Q1195L |
possibly damaging |
Het |
| Abcc12 |
A |
G |
8: 87,258,197 (GRCm39) |
I773T |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,260,960 (GRCm39) |
I1057N |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,651,114 (GRCm39) |
|
probably benign |
Het |
| Anxa5 |
G |
A |
3: 36,504,821 (GRCm39) |
A247V |
probably damaging |
Het |
| Ascc3 |
T |
G |
10: 50,611,425 (GRCm39) |
W1589G |
probably damaging |
Het |
| Atp2b2 |
G |
A |
6: 113,770,743 (GRCm39) |
P389S |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,414,445 (GRCm39) |
E386G |
probably damaging |
Het |
| Bmal2 |
C |
A |
6: 146,729,601 (GRCm39) |
H471N |
probably benign |
Het |
| Bpifa6 |
T |
A |
2: 153,824,851 (GRCm39) |
S9T |
probably benign |
Het |
| Cfhr4 |
T |
A |
1: 139,682,009 (GRCm39) |
T196S |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,442,783 (GRCm39) |
V589A |
probably benign |
Het |
| Chrnb2 |
T |
C |
3: 89,671,713 (GRCm39) |
M1V |
probably null |
Het |
| Cldnd1 |
T |
C |
16: 58,553,355 (GRCm39) |
L232P |
probably damaging |
Het |
| Col16a1 |
T |
A |
4: 129,960,889 (GRCm39) |
V449E |
unknown |
Het |
| Col3a1 |
T |
A |
1: 45,368,028 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
T |
G |
3: 104,913,173 (GRCm39) |
K237T |
probably damaging |
Het |
| Cyc1 |
G |
A |
15: 76,229,159 (GRCm39) |
V142I |
probably benign |
Het |
| Dapk3 |
A |
G |
10: 81,028,141 (GRCm39) |
T265A |
probably benign |
Het |
| Ddx21 |
A |
T |
10: 62,420,531 (GRCm39) |
M711K |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,188,717 (GRCm39) |
L1735Q |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,029,660 (GRCm39) |
Y341H |
probably damaging |
Het |
| Elmod2 |
A |
G |
8: 84,046,133 (GRCm39) |
I148T |
probably damaging |
Het |
| Fam187b |
T |
A |
7: 30,688,545 (GRCm39) |
V22E |
probably damaging |
Het |
| Faxc |
A |
G |
4: 21,936,659 (GRCm39) |
D98G |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,837,040 (GRCm39) |
R320G |
probably damaging |
Het |
| Fcrl2 |
A |
G |
3: 87,166,266 (GRCm39) |
S170P |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,821,465 (GRCm39) |
D5733N |
probably benign |
Het |
| Gbe1 |
T |
C |
16: 70,157,740 (GRCm39) |
|
probably benign |
Het |
| Gm6327 |
T |
C |
16: 12,578,909 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T24 |
T |
A |
17: 36,325,878 (GRCm39) |
I238F |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,471,087 (GRCm39) |
E2658G |
probably benign |
Het |
| Herc1 |
A |
C |
9: 66,388,192 (GRCm39) |
I3826L |
probably benign |
Het |
| Hinfp |
A |
G |
9: 44,211,060 (GRCm39) |
C67R |
probably damaging |
Het |
| Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,279,198 (GRCm39) |
Y3094H |
probably damaging |
Het |
| Htr1f |
A |
G |
16: 64,747,091 (GRCm39) |
V67A |
probably damaging |
Het |
| Idi2l |
T |
A |
13: 8,990,563 (GRCm39) |
|
probably benign |
Het |
| Iqcc |
T |
G |
4: 129,510,392 (GRCm39) |
E374D |
probably damaging |
Het |
| Kcnj9 |
T |
C |
1: 172,153,765 (GRCm39) |
T120A |
probably damaging |
Het |
| Kitl |
C |
T |
10: 99,923,226 (GRCm39) |
P208S |
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,283,346 (GRCm39) |
C296S |
probably damaging |
Het |
| Lgals4 |
A |
G |
7: 28,533,657 (GRCm39) |
|
probably null |
Het |
| Lpcat4 |
A |
G |
2: 112,077,093 (GRCm39) |
Y479C |
probably damaging |
Het |
| Lrrc74b |
T |
C |
16: 17,371,016 (GRCm39) |
N227S |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,163,473 (GRCm39) |
V1007D |
probably damaging |
Het |
| Mocos |
T |
G |
18: 24,812,819 (GRCm39) |
I571S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,183,014 (GRCm39) |
N659D |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,695,874 (GRCm39) |
V203A |
probably benign |
Het |
| Myom2 |
A |
G |
8: 15,133,329 (GRCm39) |
N407S |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,320,296 (GRCm39) |
V240A |
probably benign |
Het |
| Nap1l1 |
T |
C |
10: 111,321,370 (GRCm39) |
S37P |
probably benign |
Het |
| Nin |
T |
G |
12: 70,097,915 (GRCm39) |
K515T |
probably damaging |
Het |
| Npl |
T |
A |
1: 153,384,864 (GRCm39) |
K258* |
probably null |
Het |
| Ntn4 |
T |
A |
10: 93,480,569 (GRCm39) |
S98T |
possibly damaging |
Het |
| Or10x1 |
T |
C |
1: 174,197,152 (GRCm39) |
V223A |
probably damaging |
Het |
| Or2t6 |
T |
C |
14: 14,175,620 (GRCm38) |
D154G |
probably benign |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5k14 |
C |
A |
16: 58,693,269 (GRCm39) |
M81I |
probably benign |
Het |
| Or8u10 |
T |
C |
2: 85,915,844 (GRCm39) |
I92M |
probably damaging |
Het |
| Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
| Pate3 |
A |
G |
9: 35,557,453 (GRCm39) |
C68R |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,006,440 (GRCm39) |
D106G |
probably null |
Het |
| Ppox |
C |
A |
1: 171,106,849 (GRCm39) |
A192S |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,531,517 (GRCm39) |
L1380S |
probably benign |
Het |
| Proc |
C |
T |
18: 32,268,951 (GRCm39) |
M11I |
probably benign |
Het |
| Psd4 |
C |
A |
2: 24,295,363 (GRCm39) |
A839E |
probably damaging |
Het |
| Psg21 |
A |
G |
7: 18,388,793 (GRCm39) |
Y100H |
probably benign |
Het |
| Pten |
T |
A |
19: 32,753,469 (GRCm39) |
V45E |
probably benign |
Het |
| Ptprn2 |
T |
G |
12: 116,685,711 (GRCm39) |
F57V |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 162,120,030 (GRCm39) |
V146I |
probably benign |
Het |
| R3hdm2 |
T |
A |
10: 127,334,322 (GRCm39) |
M915K |
probably damaging |
Het |
| Rab26 |
C |
T |
17: 24,749,759 (GRCm39) |
|
probably null |
Het |
| Rab7b |
T |
C |
1: 131,626,293 (GRCm39) |
L107P |
probably damaging |
Het |
| Rbm47 |
T |
A |
5: 66,183,872 (GRCm39) |
T244S |
possibly damaging |
Het |
| Rhbdf2 |
C |
A |
11: 116,496,170 (GRCm39) |
G122C |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Rprd2 |
T |
C |
3: 95,681,673 (GRCm39) |
K407E |
probably damaging |
Het |
| Siah3 |
G |
A |
14: 75,693,574 (GRCm39) |
V27I |
possibly damaging |
Het |
| Slc12a3 |
G |
A |
8: 95,067,511 (GRCm39) |
|
probably benign |
Het |
| Slc14a2 |
T |
A |
18: 78,235,338 (GRCm39) |
N280Y |
probably damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc25a35 |
A |
G |
11: 68,862,786 (GRCm39) |
Y247C |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,691,285 (GRCm39) |
D55G |
probably benign |
Het |
| Slc35d1 |
C |
T |
4: 103,065,378 (GRCm39) |
V189I |
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,901,449 (GRCm39) |
E1497G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,067,884 (GRCm39) |
R322* |
probably null |
Het |
| Stac3 |
A |
T |
10: 127,339,519 (GRCm39) |
R138S |
probably damaging |
Het |
| Tet3 |
C |
G |
6: 83,345,770 (GRCm39) |
G1556R |
probably damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,280,682 (GRCm39) |
S693P |
probably benign |
Het |
| Tmcc2 |
C |
T |
1: 132,308,444 (GRCm39) |
G150D |
probably benign |
Het |
| Tmem216 |
T |
C |
19: 10,531,970 (GRCm39) |
Y44C |
probably damaging |
Het |
| Tmem260 |
T |
A |
14: 48,720,779 (GRCm39) |
C306* |
probably null |
Het |
| Tspyl1 |
A |
G |
10: 34,159,085 (GRCm39) |
N270S |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,191,362 (GRCm39) |
T4127A |
possibly damaging |
Het |
| Ugt2a2 |
T |
A |
5: 87,622,720 (GRCm39) |
K293* |
probably null |
Het |
| Vmn2r102 |
A |
C |
17: 19,899,025 (GRCm39) |
T456P |
probably benign |
Het |
| Vmn2r90 |
T |
A |
17: 17,932,511 (GRCm39) |
S139R |
probably benign |
Het |
| Wrnip1 |
G |
A |
13: 32,990,847 (GRCm39) |
V369I |
probably damaging |
Het |
| Zc3h12c |
T |
A |
9: 52,037,923 (GRCm39) |
I305F |
possibly damaging |
Het |
| Zmym2 |
A |
G |
14: 57,180,715 (GRCm39) |
N876D |
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 |
|
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 |
|
R0617:Cacna1c
|
UTSW |
6 |
118,579,174 (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'- TGTTCTCCCATTGCAGAACCCAAG -3'
(R):5'- TGAATTGGAAAGCCAGAGCCCAC -3'
Sequencing Primer
(F):5'- ACCCAAGCCTGGTTCTGTAAG -3'
(R):5'- gttctctccttgatgctcagtcc -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation