Incidental Mutation 'R2126:Cacna1d'
| ID |
229933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1d
|
| Ensembl Gene |
ENSMUSG00000015968 |
| Gene Name |
calcium channel, voltage-dependent, L type, alpha 1D subunit |
| Synonyms |
Cacnl1a2, Cchl1a2, C79217, Cchl1a, Cav1.3alpha1, 8430418G19Rik, D-LTCC |
| MMRRC Submission |
040129-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R2126 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
29761898-30213113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29845120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 655
(L655I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112249]
[ENSMUST00000112250]
[ENSMUST00000223803]
[ENSMUST00000224198]
[ENSMUST00000224395]
[ENSMUST00000224785]
|
| AlphaFold |
Q99246 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112249
AA Change: L655I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107868
Gene: ENSMUSG00000015968
AA Change: L655I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
10 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
163 |
405 |
4.8e-59 |
PFAM |
|
PDB:4DEY|B
|
406 |
502 |
3e-38 |
PDB |
|
low complexity region
|
503 |
517 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
557 |
751 |
5.5e-46 |
PFAM |
|
low complexity region
|
766 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
840 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
921 |
1151 |
7.2e-51 |
PFAM |
|
Pfam:Ion_trans
|
1239 |
1448 |
3.6e-67 |
PFAM |
|
Pfam:PKD_channel
|
1285 |
1455 |
1.9e-9 |
PFAM |
|
Blast:EFh
|
1469 |
1497 |
2e-9 |
BLAST |
|
Ca_chan_IQ
|
1583 |
1617 |
5.05e-16 |
SMART |
|
low complexity region
|
1649 |
1661 |
N/A |
INTRINSIC |
|
low complexity region
|
1722 |
1728 |
N/A |
INTRINSIC |
|
low complexity region
|
1830 |
1840 |
N/A |
INTRINSIC |
|
low complexity region
|
1885 |
1905 |
N/A |
INTRINSIC |
|
low complexity region
|
1921 |
1936 |
N/A |
INTRINSIC |
|
low complexity region
|
2122 |
2133 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112250
AA Change: L677I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107869
Gene: ENSMUSG00000015968
AA Change: L677I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
147 |
439 |
5.6e-72 |
PFAM |
|
low complexity region
|
473 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
539 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
544 |
784 |
2e-56 |
PFAM |
|
low complexity region
|
788 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
862 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
907 |
1185 |
2.6e-63 |
PFAM |
|
Pfam:Ion_trans
|
1226 |
1482 |
1.7e-70 |
PFAM |
|
Pfam:PKD_channel
|
1306 |
1477 |
1.2e-9 |
PFAM |
|
Pfam:GPHH
|
1484 |
1553 |
2.3e-38 |
PFAM |
|
Ca_chan_IQ
|
1605 |
1639 |
5.05e-16 |
SMART |
|
Pfam:CAC1F_C
|
1649 |
2165 |
1.1e-68 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223803
AA Change: L655I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224073
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224198
AA Change: L675I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224395
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224785
AA Change: L655I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a pore-forming subunit of the L-type, voltage-activated calcium channel family. These channels have been found to play a role in heart and smooth muscle contraction and in the transmission of auditory information. Homozygous knockout mice for this gene exhibit deafness and heart defects. These channels have also been linked to mitochondrial oxidative stress in a mouse model of Parkinson's disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 116 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,947,066 (GRCm39) |
T255A |
possibly damaging |
Het |
| Acat3 |
C |
T |
17: 13,146,294 (GRCm39) |
A230T |
probably benign |
Het |
| Acsl1 |
C |
A |
8: 46,986,663 (GRCm39) |
P650Q |
probably benign |
Het |
| Adgrl3 |
T |
A |
5: 81,660,383 (GRCm39) |
I316N |
probably damaging |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| AI429214 |
T |
A |
8: 37,461,362 (GRCm39) |
V170E |
probably benign |
Het |
| Akap13 |
G |
A |
7: 75,375,052 (GRCm39) |
G1895S |
possibly damaging |
Het |
| Alpk2 |
G |
A |
18: 65,483,439 (GRCm39) |
Q190* |
probably null |
Het |
| Aox3 |
C |
A |
1: 58,197,375 (GRCm39) |
Q574K |
probably benign |
Het |
| Apeh |
A |
G |
9: 107,962,866 (GRCm39) |
Y702H |
probably damaging |
Het |
| Aqp11 |
A |
G |
7: 97,386,692 (GRCm39) |
I151T |
probably benign |
Het |
| Arhgap28 |
A |
G |
17: 68,176,010 (GRCm39) |
V363A |
possibly damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,501,939 (GRCm39) |
N699S |
probably damaging |
Het |
| Asnsd1 |
A |
G |
1: 53,386,476 (GRCm39) |
S384P |
probably benign |
Het |
| Atl1 |
G |
T |
12: 69,978,431 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
A |
T |
4: 140,722,702 (GRCm39) |
D203V |
possibly damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,160,784 (GRCm39) |
N164K |
probably benign |
Het |
| Bnipl |
T |
A |
3: 95,152,994 (GRCm39) |
I162F |
probably damaging |
Het |
| Canx |
T |
C |
11: 50,195,185 (GRCm39) |
I294M |
probably damaging |
Het |
| Casz1 |
T |
C |
4: 149,030,521 (GRCm39) |
F1180S |
probably damaging |
Het |
| Cav3 |
T |
C |
6: 112,449,344 (GRCm39) |
Y121H |
probably benign |
Het |
| Cd4 |
A |
C |
6: 124,847,499 (GRCm39) |
S222A |
probably benign |
Het |
| Cds1 |
T |
C |
5: 101,960,416 (GRCm39) |
I289T |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,399,084 (GRCm39) |
F328L |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cfap44 |
A |
T |
16: 44,230,838 (GRCm39) |
D273V |
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,162,124 (GRCm39) |
T6A |
probably benign |
Het |
| Clec7a |
C |
T |
6: 129,447,918 (GRCm39) |
G49D |
probably benign |
Het |
| Col22a1 |
G |
A |
15: 71,729,102 (GRCm39) |
Q599* |
probably null |
Het |
| Col6a5 |
T |
A |
9: 105,822,799 (GRCm39) |
H186L |
unknown |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dnah12 |
A |
T |
14: 26,445,613 (GRCm39) |
R725* |
probably null |
Het |
| Dnajc10 |
G |
A |
2: 80,181,078 (GRCm39) |
|
probably null |
Het |
| Edem3 |
A |
T |
1: 151,670,482 (GRCm39) |
H337L |
possibly damaging |
Het |
| Eif2ak4 |
A |
T |
2: 118,252,604 (GRCm39) |
H392L |
probably benign |
Het |
| Ercc6l2 |
G |
A |
13: 63,996,585 (GRCm39) |
V365I |
probably damaging |
Het |
| Fan1 |
T |
C |
7: 63,996,636 (GRCm39) |
E978G |
probably damaging |
Het |
| Fcrl6 |
C |
T |
1: 172,426,815 (GRCm39) |
V44M |
probably benign |
Het |
| Gaa |
G |
A |
11: 119,161,108 (GRCm39) |
W50* |
probably null |
Het |
| Gm10032 |
T |
C |
14: 67,030,227 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10985 |
CTCTAT |
CT |
3: 53,752,670 (GRCm39) |
|
probably null |
Het |
| Gprc5b |
G |
T |
7: 118,583,398 (GRCm39) |
P157Q |
probably damaging |
Het |
| Gsdmc3 |
G |
A |
15: 63,730,383 (GRCm39) |
Q394* |
probably null |
Het |
| Gucd1 |
A |
G |
10: 75,347,922 (GRCm39) |
S38P |
probably damaging |
Het |
| Higd1a |
A |
T |
9: 121,679,313 (GRCm39) |
I58N |
probably damaging |
Het |
| Hmx3 |
G |
C |
7: 131,146,278 (GRCm39) |
V329L |
possibly damaging |
Het |
| Hnrnpul2 |
A |
T |
19: 8,801,802 (GRCm39) |
R337* |
probably null |
Het |
| Idua |
T |
A |
5: 108,829,304 (GRCm39) |
H368Q |
possibly damaging |
Het |
| Ifih1 |
A |
G |
2: 62,453,811 (GRCm39) |
V218A |
probably benign |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
| Klhl30 |
T |
A |
1: 91,286,499 (GRCm39) |
|
probably null |
Het |
| Lasp1 |
T |
A |
11: 97,726,960 (GRCm39) |
D227E |
probably benign |
Het |
| Lhx6 |
A |
G |
2: 35,981,336 (GRCm39) |
I85T |
possibly damaging |
Het |
| Limch1 |
A |
G |
5: 67,187,103 (GRCm39) |
D840G |
probably damaging |
Het |
| Loxl4 |
C |
G |
19: 42,592,402 (GRCm39) |
E385D |
probably damaging |
Het |
| Lrrtm4 |
A |
T |
6: 79,998,722 (GRCm39) |
I44F |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,832,483 (GRCm39) |
|
probably null |
Het |
| Lyg1 |
T |
C |
1: 37,989,755 (GRCm39) |
Y44C |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,129,122 (GRCm39) |
I129V |
probably damaging |
Het |
| Med27 |
C |
T |
2: 29,414,442 (GRCm39) |
Q150* |
probably null |
Het |
| Ms4a5 |
A |
T |
19: 11,256,732 (GRCm39) |
I55N |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,364,479 (GRCm39) |
S2597P |
possibly damaging |
Het |
| Mxd1 |
A |
C |
6: 86,628,422 (GRCm39) |
|
probably null |
Het |
| Myo3a |
A |
G |
2: 22,468,186 (GRCm39) |
D480G |
probably benign |
Het |
| Neb |
T |
C |
2: 52,200,650 (GRCm39) |
Y343C |
probably damaging |
Het |
| Niban1 |
A |
C |
1: 151,571,886 (GRCm39) |
E277A |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,584,884 (GRCm39) |
I494V |
possibly damaging |
Het |
| Nrn1 |
A |
C |
13: 36,914,180 (GRCm39) |
V34G |
probably damaging |
Het |
| Or4k52 |
A |
G |
2: 111,610,841 (GRCm39) |
M59V |
probably damaging |
Het |
| Or4n5 |
A |
G |
14: 50,132,524 (GRCm39) |
I245T |
probably benign |
Het |
| Or52b1 |
C |
T |
7: 104,978,459 (GRCm39) |
W313* |
probably null |
Het |
| Or56a3 |
A |
G |
7: 104,735,822 (GRCm39) |
T300A |
probably damaging |
Het |
| Or8b39 |
G |
T |
9: 37,996,572 (GRCm39) |
V147L |
probably benign |
Het |
| Or8h9 |
T |
C |
2: 86,789,442 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Or8k40 |
A |
T |
2: 86,584,796 (GRCm39) |
N95K |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,773,771 (GRCm39) |
V526E |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,328,546 (GRCm39) |
V167A |
probably damaging |
Het |
| Pgk2 |
A |
G |
17: 40,518,400 (GRCm39) |
F343L |
probably damaging |
Het |
| Piwil1 |
T |
C |
5: 128,831,160 (GRCm39) |
V827A |
probably damaging |
Het |
| Plag1 |
A |
T |
4: 3,904,169 (GRCm39) |
Y341N |
possibly damaging |
Het |
| Plch2 |
T |
C |
4: 155,083,456 (GRCm39) |
E393G |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,154,355 (GRCm38) |
M692K |
probably benign |
Het |
| Rassf8 |
G |
A |
6: 145,760,908 (GRCm39) |
R78H |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,341,027 (GRCm39) |
Q3556R |
probably damaging |
Het |
| Rpa2 |
T |
C |
4: 132,496,099 (GRCm39) |
|
probably null |
Het |
| Rpe |
T |
G |
1: 66,755,139 (GRCm39) |
F174V |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 110,159,502 (GRCm39) |
D36G |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,582,423 (GRCm39) |
Y1590* |
probably null |
Het |
| Slc24a4 |
T |
C |
12: 102,189,018 (GRCm39) |
V151A |
probably damaging |
Het |
| Slc30a8 |
A |
T |
15: 52,159,330 (GRCm39) |
M17L |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,579,506 (GRCm39) |
Y1228H |
probably damaging |
Het |
| Smad4 |
G |
A |
18: 73,795,815 (GRCm39) |
T193M |
probably benign |
Het |
| Smtn |
T |
A |
11: 3,480,045 (GRCm39) |
H392L |
probably benign |
Het |
| St8sia3 |
A |
G |
18: 64,402,745 (GRCm39) |
D128G |
probably damaging |
Het |
| Sucla2 |
A |
T |
14: 73,830,108 (GRCm39) |
M382L |
possibly damaging |
Het |
| Tbx5 |
A |
G |
5: 119,974,988 (GRCm39) |
T4A |
probably benign |
Het |
| Tdrd5 |
T |
C |
1: 156,104,143 (GRCm39) |
R528G |
probably damaging |
Het |
| Tex44 |
T |
C |
1: 86,354,811 (GRCm39) |
L240P |
probably benign |
Het |
| Tns4 |
A |
T |
11: 98,970,904 (GRCm39) |
|
probably null |
Het |
| Trappc10 |
A |
T |
10: 78,039,758 (GRCm39) |
V731E |
possibly damaging |
Het |
| Ttf1 |
A |
G |
2: 28,961,357 (GRCm39) |
K582E |
probably damaging |
Het |
| Ttf2 |
C |
A |
3: 100,855,509 (GRCm39) |
Q895H |
possibly damaging |
Het |
| Ttll6 |
A |
G |
11: 96,038,358 (GRCm39) |
E402G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,720,436 (GRCm39) |
|
probably null |
Het |
| Ugt8a |
T |
C |
3: 125,669,195 (GRCm39) |
D303G |
probably damaging |
Het |
| Ulk1 |
G |
T |
5: 110,940,302 (GRCm39) |
A373D |
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,306,058 (GRCm39) |
S507P |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,293,033 (GRCm39) |
D358E |
possibly damaging |
Het |
| Vmn2r88 |
T |
C |
14: 51,651,264 (GRCm39) |
S201P |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,494,403 (GRCm39) |
F78S |
probably damaging |
Het |
| Zfp454 |
A |
C |
11: 50,764,822 (GRCm39) |
S203R |
probably benign |
Het |
| Zfp616 |
C |
A |
11: 73,976,229 (GRCm39) |
Q833K |
probably benign |
Het |
| Znhit2 |
A |
G |
19: 6,112,091 (GRCm39) |
T279A |
probably benign |
Het |
| Zswim3 |
T |
A |
2: 164,661,913 (GRCm39) |
I131N |
probably benign |
Het |
|
| Other mutations in Cacna1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Cacna1d
|
APN |
14 |
29,818,907 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00857:Cacna1d
|
APN |
14 |
30,072,638 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01015:Cacna1d
|
APN |
14 |
29,773,699 (GRCm39) |
splice site |
probably benign |
|
|
IGL01420:Cacna1d
|
APN |
14 |
29,773,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01470:Cacna1d
|
APN |
14 |
29,821,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01560:Cacna1d
|
APN |
14 |
29,821,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01617:Cacna1d
|
APN |
14 |
29,824,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01820:Cacna1d
|
APN |
14 |
29,764,823 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01948:Cacna1d
|
APN |
14 |
29,846,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02702:Cacna1d
|
APN |
14 |
29,845,490 (GRCm39) |
nonsense |
probably null |
|
|
IGL02864:Cacna1d
|
APN |
14 |
29,773,663 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03082:Cacna1d
|
APN |
14 |
29,821,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Brisk
|
UTSW |
14 |
29,893,271 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Troppo
|
UTSW |
14 |
29,845,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4651001:Cacna1d
|
UTSW |
14 |
29,900,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Cacna1d
|
UTSW |
14 |
29,836,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0015:Cacna1d
|
UTSW |
14 |
29,836,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0033:Cacna1d
|
UTSW |
14 |
29,827,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0047:Cacna1d
|
UTSW |
14 |
30,068,747 (GRCm39) |
splice site |
probably benign |
|
|
R0047:Cacna1d
|
UTSW |
14 |
30,068,747 (GRCm39) |
splice site |
probably benign |
|
|
R0051:Cacna1d
|
UTSW |
14 |
29,833,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Cacna1d
|
UTSW |
14 |
29,833,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Cacna1d
|
UTSW |
14 |
29,796,967 (GRCm39) |
unclassified |
probably benign |
|
|
R0067:Cacna1d
|
UTSW |
14 |
29,796,967 (GRCm39) |
unclassified |
probably benign |
|
|
R0238:Cacna1d
|
UTSW |
14 |
29,845,453 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0238:Cacna1d
|
UTSW |
14 |
29,845,453 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0239:Cacna1d
|
UTSW |
14 |
29,845,453 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0239:Cacna1d
|
UTSW |
14 |
29,845,453 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0240:Cacna1d
|
UTSW |
14 |
29,818,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Cacna1d
|
UTSW |
14 |
29,818,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0284:Cacna1d
|
UTSW |
14 |
29,794,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0416:Cacna1d
|
UTSW |
14 |
29,822,645 (GRCm39) |
splice site |
probably benign |
|
|
R0427:Cacna1d
|
UTSW |
14 |
30,068,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0517:Cacna1d
|
UTSW |
14 |
29,901,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Cacna1d
|
UTSW |
14 |
29,893,251 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0727:Cacna1d
|
UTSW |
14 |
29,852,072 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0732:Cacna1d
|
UTSW |
14 |
29,764,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0843:Cacna1d
|
UTSW |
14 |
29,846,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0900:Cacna1d
|
UTSW |
14 |
29,833,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1278:Cacna1d
|
UTSW |
14 |
29,900,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1340:Cacna1d
|
UTSW |
14 |
29,794,024 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1527:Cacna1d
|
UTSW |
14 |
29,829,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Cacna1d
|
UTSW |
14 |
29,788,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1736:Cacna1d
|
UTSW |
14 |
29,811,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Cacna1d
|
UTSW |
14 |
29,821,153 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2034:Cacna1d
|
UTSW |
14 |
29,811,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Cacna1d
|
UTSW |
14 |
29,769,314 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2218:Cacna1d
|
UTSW |
14 |
29,845,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2219:Cacna1d
|
UTSW |
14 |
29,764,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2262:Cacna1d
|
UTSW |
14 |
30,212,973 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2291:Cacna1d
|
UTSW |
14 |
29,764,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2399:Cacna1d
|
UTSW |
14 |
29,774,444 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2424:Cacna1d
|
UTSW |
14 |
29,770,980 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2568:Cacna1d
|
UTSW |
14 |
29,804,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4038:Cacna1d
|
UTSW |
14 |
29,788,040 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4509:Cacna1d
|
UTSW |
14 |
29,818,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Cacna1d
|
UTSW |
14 |
29,817,365 (GRCm39) |
missense |
probably benign |
|
|
R4650:Cacna1d
|
UTSW |
14 |
29,817,365 (GRCm39) |
missense |
probably benign |
|
|
R4652:Cacna1d
|
UTSW |
14 |
29,817,365 (GRCm39) |
missense |
probably benign |
|
|
R5009:Cacna1d
|
UTSW |
14 |
29,801,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5058:Cacna1d
|
UTSW |
14 |
29,836,201 (GRCm39) |
nonsense |
probably null |
|
|
R5063:Cacna1d
|
UTSW |
14 |
29,773,340 (GRCm39) |
missense |
probably benign |
|
|
R5138:Cacna1d
|
UTSW |
14 |
30,212,929 (GRCm39) |
missense |
probably benign |
|
|
R5151:Cacna1d
|
UTSW |
14 |
29,845,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5278:Cacna1d
|
UTSW |
14 |
30,074,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5286:Cacna1d
|
UTSW |
14 |
30,072,682 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5313:Cacna1d
|
UTSW |
14 |
30,068,798 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5383:Cacna1d
|
UTSW |
14 |
29,767,236 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5387:Cacna1d
|
UTSW |
14 |
29,822,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Cacna1d
|
UTSW |
14 |
30,072,790 (GRCm39) |
nonsense |
probably null |
|
|
R5524:Cacna1d
|
UTSW |
14 |
29,764,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5663:Cacna1d
|
UTSW |
14 |
29,845,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5712:Cacna1d
|
UTSW |
14 |
29,796,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5796:Cacna1d
|
UTSW |
14 |
29,788,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Cacna1d
|
UTSW |
14 |
29,818,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5923:Cacna1d
|
UTSW |
14 |
29,833,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Cacna1d
|
UTSW |
14 |
29,893,271 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5938:Cacna1d
|
UTSW |
14 |
29,825,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Cacna1d
|
UTSW |
14 |
29,764,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6432:Cacna1d
|
UTSW |
14 |
29,845,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6486:Cacna1d
|
UTSW |
14 |
29,836,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6600:Cacna1d
|
UTSW |
14 |
29,836,192 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6661:Cacna1d
|
UTSW |
14 |
29,811,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Cacna1d
|
UTSW |
14 |
29,764,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:Cacna1d
|
UTSW |
14 |
29,773,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6851:Cacna1d
|
UTSW |
14 |
29,764,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6863:Cacna1d
|
UTSW |
14 |
29,797,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6916:Cacna1d
|
UTSW |
14 |
29,817,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Cacna1d
|
UTSW |
14 |
29,773,594 (GRCm39) |
missense |
probably benign |
|
|
R7066:Cacna1d
|
UTSW |
14 |
30,074,935 (GRCm39) |
intron |
probably benign |
|
|
R7188:Cacna1d
|
UTSW |
14 |
29,811,790 (GRCm39) |
missense |
probably benign |
|
|
R7242:Cacna1d
|
UTSW |
14 |
29,900,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7249:Cacna1d
|
UTSW |
14 |
29,864,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Cacna1d
|
UTSW |
14 |
29,797,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Cacna1d
|
UTSW |
14 |
29,864,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7336:Cacna1d
|
UTSW |
14 |
29,767,239 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7343:Cacna1d
|
UTSW |
14 |
29,845,014 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7411:Cacna1d
|
UTSW |
14 |
30,074,947 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7461:Cacna1d
|
UTSW |
14 |
29,788,120 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7534:Cacna1d
|
UTSW |
14 |
29,801,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7613:Cacna1d
|
UTSW |
14 |
29,788,120 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7661:Cacna1d
|
UTSW |
14 |
29,769,177 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7754:Cacna1d
|
UTSW |
14 |
29,797,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7759:Cacna1d
|
UTSW |
14 |
29,821,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7784:Cacna1d
|
UTSW |
14 |
29,845,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7808:Cacna1d
|
UTSW |
14 |
29,833,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7965:Cacna1d
|
UTSW |
14 |
29,769,270 (GRCm39) |
nonsense |
probably null |
|
|
R8225:Cacna1d
|
UTSW |
14 |
29,844,990 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8259:Cacna1d
|
UTSW |
14 |
29,773,475 (GRCm39) |
missense |
probably benign |
|
|
R8348:Cacna1d
|
UTSW |
14 |
29,824,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8448:Cacna1d
|
UTSW |
14 |
29,824,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8822:Cacna1d
|
UTSW |
14 |
29,900,692 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8848:Cacna1d
|
UTSW |
14 |
29,845,283 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9122:Cacna1d
|
UTSW |
14 |
29,852,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9122:Cacna1d
|
UTSW |
14 |
29,845,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Cacna1d
|
UTSW |
14 |
29,796,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9199:Cacna1d
|
UTSW |
14 |
29,764,893 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9203:Cacna1d
|
UTSW |
14 |
29,773,669 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9263:Cacna1d
|
UTSW |
14 |
29,796,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9346:Cacna1d
|
UTSW |
14 |
29,818,880 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9444:Cacna1d
|
UTSW |
14 |
29,829,741 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9487:Cacna1d
|
UTSW |
14 |
29,845,419 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9542:Cacna1d
|
UTSW |
14 |
29,845,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9651:Cacna1d
|
UTSW |
14 |
29,764,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9785:Cacna1d
|
UTSW |
14 |
29,824,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Cacna1d
|
UTSW |
14 |
29,833,073 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1176:Cacna1d
|
UTSW |
14 |
29,901,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTAAGCTCTGGACAGACC -3'
(R):5'- CCTCCTGAGAATCTTCAAAGTGAC -3'
Sequencing Primer
(F):5'- AGACCCAAGAAGGCTCTCTGG -3'
(R):5'- TCTTCAAAGTGACCAGGTAAAGGC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation