Incidental Mutation 'R0193:Cacna1c'
ID |
23221 |
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 |
038452-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.453)
|
Stock # |
R0193 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
118564201-119173851 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 118579363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075591]
[ENSMUST00000078320]
[ENSMUST00000112790]
[ENSMUST00000112793]
[ENSMUST00000112825]
[ENSMUST00000185345]
[ENSMUST00000186889]
[ENSMUST00000187386]
[ENSMUST00000187474]
[ENSMUST00000188106]
[ENSMUST00000187317]
[ENSMUST00000188078]
[ENSMUST00000188522]
[ENSMUST00000190285]
[ENSMUST00000187940]
[ENSMUST00000188865]
[ENSMUST00000189389]
[ENSMUST00000189520]
[ENSMUST00000219018]
[ENSMUST00000219223]
[ENSMUST00000220022]
[ENSMUST00000219833]
|
AlphaFold |
Q01815 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075591
|
SMART Domains |
Protein: ENSMUSP00000075021 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000078320
|
SMART Domains |
Protein: ENSMUSP00000077433 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000112790
|
SMART Domains |
Protein: ENSMUSP00000108410 Gene: ENSMUSG00000051331
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 |
probably benign
Transcript: ENSMUST00000112793
|
SMART Domains |
Protein: ENSMUSP00000108413 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000112825
|
SMART Domains |
Protein: ENSMUSP00000108444 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000185345
|
SMART Domains |
Protein: ENSMUSP00000140833 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000186889
|
SMART Domains |
Protein: ENSMUSP00000140056 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000187386
|
SMART Domains |
Protein: ENSMUSP00000140341 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000187474
|
SMART Domains |
Protein: ENSMUSP00000140961 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000188106
|
SMART Domains |
Protein: ENSMUSP00000140886 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000187317
|
SMART Domains |
Protein: ENSMUSP00000140693 Gene: ENSMUSG00000051331
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 |
noncoding transcript
Transcript: ENSMUST00000188181
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188078
|
SMART Domains |
Protein: ENSMUSP00000140415 Gene: ENSMUSG00000051331
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: ENSMUST00000188522
|
SMART Domains |
Protein: ENSMUSP00000140920 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000190285
|
SMART Domains |
Protein: ENSMUSP00000141015 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000187940
|
SMART Domains |
Protein: ENSMUSP00000141033 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000188865
|
SMART Domains |
Protein: ENSMUSP00000139981 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000189389
|
SMART Domains |
Protein: ENSMUSP00000139855 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000189520
|
SMART Domains |
Protein: ENSMUSP00000140220 Gene: ENSMUSG00000051331
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 benign
Transcript: ENSMUST00000219018
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219223
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220022
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219833
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 94.7%
- 20x: 85.3%
|
Validation Efficiency |
95% (186/196) |
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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
T |
C |
15: 74,444,005 (GRCm39) |
S96P |
probably damaging |
Het |
Akr1c20 |
A |
G |
13: 4,561,292 (GRCm39) |
|
probably benign |
Het |
Atp2a3 |
G |
T |
11: 72,863,046 (GRCm39) |
V99L |
possibly damaging |
Het |
Atp6v0a1 |
T |
A |
11: 100,939,308 (GRCm39) |
I691N |
possibly damaging |
Het |
Atp8b1 |
C |
T |
18: 64,694,707 (GRCm39) |
R525Q |
probably benign |
Het |
Aurkb |
A |
G |
11: 68,939,370 (GRCm39) |
D151G |
probably damaging |
Het |
Bank1 |
A |
T |
3: 135,772,279 (GRCm39) |
|
probably benign |
Het |
Bcl9l |
T |
C |
9: 44,418,703 (GRCm39) |
L847P |
probably damaging |
Het |
Bscl2 |
T |
A |
19: 8,824,793 (GRCm39) |
M292K |
probably benign |
Het |
Cadps2 |
T |
C |
6: 23,599,439 (GRCm39) |
K260R |
probably benign |
Het |
Cc2d2a |
T |
C |
5: 43,893,460 (GRCm39) |
S1419P |
probably damaging |
Het |
Ccdc180 |
G |
A |
4: 45,914,803 (GRCm39) |
E145K |
probably benign |
Het |
Ccno |
C |
T |
13: 113,125,418 (GRCm39) |
|
probably benign |
Het |
Cd300a |
A |
G |
11: 114,784,202 (GRCm39) |
D70G |
probably benign |
Het |
Cenpc1 |
T |
C |
5: 86,180,262 (GRCm39) |
D670G |
probably benign |
Het |
Cenpl |
A |
G |
1: 160,913,558 (GRCm39) |
I323V |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,269,573 (GRCm39) |
|
probably null |
Het |
Cfap74 |
C |
T |
4: 155,510,572 (GRCm39) |
R386C |
probably benign |
Het |
Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
Clcnkb |
T |
C |
4: 141,139,627 (GRCm39) |
E125G |
possibly damaging |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Coro7 |
G |
A |
16: 4,445,368 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
C |
T |
7: 105,414,190 (GRCm39) |
R875H |
probably benign |
Het |
Eif3j1 |
A |
C |
2: 121,882,508 (GRCm39) |
M239L |
probably benign |
Het |
Eif4g3 |
G |
T |
4: 137,873,687 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
A |
T |
5: 9,472,359 (GRCm39) |
Q352L |
probably damaging |
Het |
Erbb4 |
T |
C |
1: 68,083,119 (GRCm39) |
|
probably benign |
Het |
Erlin2 |
T |
G |
8: 27,521,792 (GRCm39) |
V164G |
possibly damaging |
Het |
Fbxo43 |
G |
T |
15: 36,162,029 (GRCm39) |
Q393K |
probably benign |
Het |
Fcgr4 |
A |
T |
1: 170,853,329 (GRCm39) |
N178I |
possibly damaging |
Het |
Grid2 |
A |
G |
6: 64,040,937 (GRCm39) |
N293S |
possibly damaging |
Het |
H2-M1 |
C |
T |
17: 36,982,224 (GRCm39) |
V126I |
probably benign |
Het |
Htr1f |
T |
A |
16: 64,747,112 (GRCm39) |
Y60F |
probably damaging |
Het |
Ilf2 |
A |
G |
3: 90,388,646 (GRCm39) |
|
probably null |
Het |
Impg2 |
A |
T |
16: 56,085,412 (GRCm39) |
K931* |
probably null |
Het |
Ints1 |
T |
C |
5: 139,737,485 (GRCm39) |
E2176G |
probably damaging |
Het |
Iqsec2 |
T |
C |
X: 151,006,399 (GRCm39) |
V1319A |
probably benign |
Het |
Iqsec3 |
G |
T |
6: 121,387,683 (GRCm39) |
D685E |
probably damaging |
Het |
Itgbl1 |
G |
A |
14: 124,083,958 (GRCm39) |
V279I |
probably benign |
Het |
Kdm4b |
C |
T |
17: 56,700,952 (GRCm39) |
A541V |
probably benign |
Het |
Kif14 |
A |
T |
1: 136,396,176 (GRCm39) |
T161S |
probably benign |
Het |
Krt86 |
T |
C |
15: 101,377,244 (GRCm39) |
|
probably benign |
Het |
Kyat1 |
C |
T |
2: 30,077,198 (GRCm39) |
|
probably null |
Het |
Limch1 |
T |
C |
5: 67,184,882 (GRCm39) |
W791R |
probably damaging |
Het |
Map3k11 |
T |
A |
19: 5,745,874 (GRCm39) |
M396K |
probably damaging |
Het |
Mat2a |
A |
G |
6: 72,413,178 (GRCm39) |
|
probably null |
Het |
Mbnl2 |
A |
G |
14: 120,616,649 (GRCm39) |
I88V |
possibly damaging |
Het |
Mib2 |
T |
C |
4: 155,740,130 (GRCm39) |
T708A |
probably benign |
Het |
Mix23 |
T |
C |
16: 35,903,184 (GRCm39) |
S59P |
probably damaging |
Het |
Mkks |
T |
C |
2: 136,719,526 (GRCm39) |
|
probably null |
Het |
Mtss1 |
T |
C |
15: 58,815,866 (GRCm39) |
M565V |
probably damaging |
Het |
Myoc |
A |
G |
1: 162,476,604 (GRCm39) |
N436S |
probably damaging |
Het |
Myod1 |
T |
A |
7: 46,026,536 (GRCm39) |
V147E |
probably damaging |
Het |
Ngef |
A |
G |
1: 87,437,056 (GRCm39) |
L144P |
probably benign |
Het |
Ngrn |
C |
T |
7: 79,911,678 (GRCm39) |
R92W |
probably damaging |
Het |
Nup153 |
G |
A |
13: 46,863,130 (GRCm39) |
T349I |
probably benign |
Het |
Or4c15 |
T |
A |
2: 88,760,627 (GRCm39) |
I11L |
probably benign |
Het |
Or52ad1 |
G |
T |
7: 102,995,411 (GRCm39) |
S241R |
possibly damaging |
Het |
Pigl |
A |
G |
11: 62,394,574 (GRCm39) |
I135M |
probably damaging |
Het |
Pitpnm3 |
A |
G |
11: 71,961,318 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,429,141 (GRCm39) |
F2420I |
probably damaging |
Het |
Polr2b |
C |
T |
5: 77,467,923 (GRCm39) |
T119M |
probably damaging |
Het |
Prr29 |
A |
G |
11: 106,267,722 (GRCm39) |
Y130C |
probably damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,209,973 (GRCm39) |
I1048V |
probably damaging |
Het |
Rab12 |
G |
A |
17: 66,807,357 (GRCm39) |
T124I |
probably damaging |
Het |
Rab44 |
A |
G |
17: 29,359,281 (GRCm39) |
S490G |
probably benign |
Het |
Rasa3 |
A |
G |
8: 13,620,233 (GRCm39) |
|
probably null |
Het |
Rhbdl3 |
C |
T |
11: 80,244,400 (GRCm39) |
S369L |
possibly damaging |
Het |
Rimbp2 |
A |
T |
5: 128,865,420 (GRCm39) |
S643T |
probably benign |
Het |
Rin1 |
T |
G |
19: 5,102,680 (GRCm39) |
S396R |
probably damaging |
Het |
Rpusd3 |
C |
T |
6: 113,396,198 (GRCm39) |
G28S |
probably damaging |
Het |
Rtl9 |
T |
A |
X: 141,883,274 (GRCm39) |
S229T |
probably damaging |
Het |
Rufy1 |
G |
T |
11: 50,280,679 (GRCm39) |
T701N |
probably benign |
Het |
Scn4a |
A |
T |
11: 106,211,364 (GRCm39) |
L1551* |
probably null |
Het |
Sec24b |
T |
C |
3: 129,782,633 (GRCm39) |
N1119S |
probably null |
Het |
Serbp1 |
T |
A |
6: 67,249,868 (GRCm39) |
*75R |
probably null |
Het |
Setx |
C |
T |
2: 29,069,685 (GRCm39) |
P2497S |
probably benign |
Het |
Slc26a11 |
A |
T |
11: 119,250,140 (GRCm39) |
I132F |
probably damaging |
Het |
Slc4a1 |
A |
G |
11: 102,243,510 (GRCm39) |
V707A |
possibly damaging |
Het |
Slfn1 |
A |
G |
11: 83,012,669 (GRCm39) |
I262V |
probably damaging |
Het |
Tmem168 |
T |
A |
6: 13,583,312 (GRCm39) |
D523V |
possibly damaging |
Het |
Traf7 |
G |
T |
17: 24,729,525 (GRCm39) |
Q469K |
probably benign |
Het |
Trdmt1 |
C |
A |
2: 13,549,428 (GRCm39) |
V6F |
probably damaging |
Het |
Tsacc |
A |
T |
3: 88,194,395 (GRCm39) |
|
probably benign |
Het |
Vmn2r5 |
A |
G |
3: 64,398,951 (GRCm39) |
I589T |
possibly damaging |
Het |
Vmn2r7 |
T |
C |
3: 64,598,460 (GRCm39) |
D699G |
probably damaging |
Het |
Vmn2r82 |
T |
C |
10: 79,217,129 (GRCm39) |
V487A |
probably damaging |
Het |
Zbtb47 |
T |
C |
9: 121,596,732 (GRCm39) |
V696A |
probably damaging |
Het |
Zfp287 |
A |
T |
11: 62,605,855 (GRCm39) |
S351T |
probably benign |
Het |
Zfp654 |
T |
C |
16: 64,606,051 (GRCm39) |
H176R |
possibly damaging |
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 |
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'- TTAGAGCTGAGCTTCCATGCTGCC -3'
(R):5'- ATCAGCAACCACTTGCCTGTCC -3'
Sequencing Primer
(F):5'- CTGTACTCGGACAGCAGG -3'
(R):5'- GGCCACGAGCATCTAAGTC -3'
|
Posted On |
2013-04-16 |