Incidental Mutation 'R4816:Cacna1s'
| ID |
369760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1s
|
| Ensembl Gene |
ENSMUSG00000026407 |
| Gene Name |
calcium channel, voltage-dependent, L type, alpha 1S subunit |
| Synonyms |
mdg, muscle dysgenesis, sj, Cav1.1, Cchl1a3, DHPR alpha1s, fmd |
| MMRRC Submission |
042434-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4816 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
135980549-136047268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136043007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 1331
(I1331K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112064]
[ENSMUST00000112068]
[ENSMUST00000160641]
[ENSMUST00000161865]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112064
AA Change: I1597K
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107695
Gene: ENSMUSG00000026407
AA Change: I1597K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
50 |
345 |
4.3e-68 |
PFAM |
|
Pfam:Ion_trans
|
431 |
672 |
4.5e-56 |
PFAM |
|
Pfam:PKD_channel
|
516 |
667 |
1.9e-7 |
PFAM |
|
low complexity region
|
675 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
756 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
798 |
1076 |
2.6e-65 |
PFAM |
|
Pfam:Ion_trans
|
1117 |
1392 |
1.2e-71 |
PFAM |
|
Pfam:PKD_channel
|
1126 |
1387 |
8.4e-13 |
PFAM |
|
Pfam:GPHH
|
1394 |
1463 |
2.3e-38 |
PFAM |
|
Ca_chan_IQ
|
1515 |
1548 |
3.71e-14 |
SMART |
|
low complexity region
|
1657 |
1669 |
N/A |
INTRINSIC |
|
Pfam:CAC1F_C
|
1756 |
1845 |
2.8e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112068
AA Change: I1578K
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107699
Gene: ENSMUSG00000026407
AA Change: I1578K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
88 |
333 |
9.1e-57 |
PFAM |
|
PDB:4DEY|B
|
334 |
417 |
1e-20 |
PDB |
|
Pfam:Ion_trans
|
466 |
660 |
3.7e-46 |
PFAM |
|
Pfam:PKD_channel
|
513 |
667 |
6.7e-7 |
PFAM |
|
low complexity region
|
675 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
818 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
834 |
1064 |
3.9e-53 |
PFAM |
|
Pfam:Ion_trans
|
1152 |
1361 |
6.7e-66 |
PFAM |
|
Pfam:PKD_channel
|
1201 |
1368 |
8.4e-10 |
PFAM |
|
Blast:EFh
|
1382 |
1410 |
5e-8 |
BLAST |
|
Ca_chan_IQ
|
1496 |
1529 |
3.71e-14 |
SMART |
|
low complexity region
|
1638 |
1650 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159106
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160641
AA Change: I1597K
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125278
Gene: ENSMUSG00000026407
AA Change: I1597K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
88 |
333 |
9.3e-57 |
PFAM |
|
PDB:4DEY|B
|
334 |
417 |
1e-20 |
PDB |
|
Pfam:Ion_trans
|
466 |
660 |
3.8e-46 |
PFAM |
|
Pfam:PKD_channel
|
513 |
667 |
6.7e-7 |
PFAM |
|
low complexity region
|
675 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
818 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
834 |
1064 |
4e-53 |
PFAM |
|
Pfam:PKD_channel
|
1126 |
1387 |
6.1e-12 |
PFAM |
|
Pfam:Ion_trans
|
1152 |
1380 |
9e-65 |
PFAM |
|
Blast:EFh
|
1401 |
1429 |
5e-8 |
BLAST |
|
Ca_chan_IQ
|
1515 |
1548 |
3.71e-14 |
SMART |
|
low complexity region
|
1657 |
1669 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161700
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161865
AA Change: I1331K
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125262
Gene: ENSMUSG00000026407
AA Change: I1331K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
3 |
98 |
1.1e-21 |
PFAM |
|
Pfam:Ion_trans
|
184 |
425 |
3.3e-56 |
PFAM |
|
Pfam:PKD_channel
|
267 |
420 |
1.8e-7 |
PFAM |
|
low complexity region
|
428 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
509 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
551 |
829 |
1.9e-65 |
PFAM |
|
Pfam:Ion_trans
|
870 |
1126 |
5.4e-72 |
PFAM |
|
Pfam:PKD_channel
|
954 |
1121 |
7.2e-10 |
PFAM |
|
Pfam:GPHH
|
1128 |
1197 |
1.8e-38 |
PFAM |
|
Ca_chan_IQ
|
1249 |
1282 |
3.71e-14 |
SMART |
|
low complexity region
|
1391 |
1403 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194155
|
| Meta Mutation Damage Score |
0.4670 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
97% (113/116) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show edema and failure of myoblast differentiation by day 13 of embryonic development and die perinatally. All muscles degenerate and additional secondary anomalies of the skeleton, short jaw, and cleft palate are seen. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(3) Spontaneous(1)
|
| Other mutations in this stock |
Total: 107 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
A |
7: 45,754,131 (GRCm39) |
A1562S |
probably benign |
Het |
| Adam30 |
C |
A |
3: 98,070,061 (GRCm39) |
D631E |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,676,793 (GRCm39) |
T2013A |
probably damaging |
Het |
| Ark2n |
A |
T |
18: 77,740,995 (GRCm39) |
|
probably null |
Het |
| Baiap3 |
T |
A |
17: 25,466,269 (GRCm39) |
|
probably benign |
Het |
| Bicra |
T |
C |
7: 15,722,831 (GRCm39) |
T229A |
possibly damaging |
Het |
| C1qbp |
A |
G |
11: 70,873,190 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
C |
A |
7: 100,040,226 (GRCm39) |
T265K |
probably benign |
Het |
| Cdadc1 |
AGACGGA |
AGA |
14: 59,806,440 (GRCm39) |
|
probably null |
Het |
| Cdcp2 |
A |
G |
4: 106,963,969 (GRCm39) |
Y273C |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,244,856 (GRCm39) |
V1013G |
possibly damaging |
Het |
| Celf3 |
T |
A |
3: 94,386,529 (GRCm39) |
I39N |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,405,674 (GRCm39) |
S1619R |
probably damaging |
Het |
| Cfap36 |
A |
G |
11: 29,195,108 (GRCm39) |
I42T |
probably damaging |
Het |
| Cfap61 |
G |
T |
2: 145,985,020 (GRCm39) |
V955L |
probably damaging |
Het |
| Cit |
G |
A |
5: 116,046,750 (GRCm39) |
D388N |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,516,613 (GRCm39) |
M328V |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,527,458 (GRCm39) |
I447L |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,721,330 (GRCm39) |
T1538A |
possibly damaging |
Het |
| Cstf1 |
A |
G |
2: 172,214,905 (GRCm39) |
K9E |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,625,186 (GRCm39) |
M560K |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,466,779 (GRCm39) |
T550S |
probably benign |
Het |
| Dtnb |
A |
G |
12: 3,799,505 (GRCm39) |
E460G |
probably damaging |
Het |
| Dus1l |
GAGGTAAG |
GAG |
11: 120,680,584 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,320,927 (GRCm39) |
V120E |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,689,001 (GRCm39) |
Y769C |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,942,874 (GRCm39) |
Y22C |
probably damaging |
Het |
| Flacc1 |
G |
A |
1: 58,709,567 (GRCm39) |
A196V |
probably benign |
Het |
| Gbp3 |
T |
C |
3: 142,273,335 (GRCm39) |
V294A |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,239,104 (GRCm39) |
|
probably benign |
Het |
| Gm15130 |
A |
T |
2: 110,965,714 (GRCm39) |
|
probably benign |
Het |
| Gm6185 |
A |
T |
1: 161,040,728 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr171 |
T |
A |
3: 59,005,517 (GRCm39) |
H86L |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,230,074 (GRCm39) |
T694A |
probably damaging |
Het |
| H2-Aa |
A |
T |
17: 34,502,794 (GRCm39) |
V124E |
probably damaging |
Het |
| H2bc13 |
A |
G |
13: 21,900,135 (GRCm39) |
M60T |
probably benign |
Het |
| H2-M5 |
A |
G |
17: 37,300,309 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,902,984 (GRCm39) |
N2355K |
probably damaging |
Het |
| Il9r |
A |
C |
11: 32,142,654 (GRCm39) |
S295A |
possibly damaging |
Het |
| Ipo9 |
T |
C |
1: 135,334,288 (GRCm39) |
T313A |
probably benign |
Het |
| Kalrn |
C |
T |
16: 34,334,389 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,610,661 (GRCm39) |
V1175M |
possibly damaging |
Het |
| Lhpp |
T |
A |
7: 132,272,104 (GRCm39) |
C242* |
probably null |
Het |
| Lipe |
A |
G |
7: 25,079,568 (GRCm39) |
S1013P |
probably damaging |
Het |
| Lrrc25 |
C |
T |
8: 71,070,726 (GRCm39) |
T169I |
probably benign |
Het |
| Lrrc39 |
T |
C |
3: 116,362,515 (GRCm39) |
|
probably null |
Het |
| Lrrd1 |
T |
A |
5: 3,901,126 (GRCm39) |
L477* |
probably null |
Het |
| Lrriq4 |
A |
G |
3: 30,714,196 (GRCm39) |
I515V |
possibly damaging |
Het |
| Magel2 |
A |
G |
7: 62,030,840 (GRCm39) |
Y1248C |
unknown |
Het |
| Maml1 |
G |
T |
11: 50,149,162 (GRCm39) |
N859K |
possibly damaging |
Het |
| Mdm1 |
A |
T |
10: 117,982,782 (GRCm39) |
H139L |
possibly damaging |
Het |
| Mef2d |
C |
T |
3: 88,075,397 (GRCm39) |
P420S |
possibly damaging |
Het |
| Mgat4b |
A |
G |
11: 50,101,848 (GRCm39) |
K38E |
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,494,923 (GRCm39) |
V405A |
probably damaging |
Het |
| Naip5 |
G |
A |
13: 100,356,195 (GRCm39) |
T1140M |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
A |
13: 100,356,189 (GRCm39) |
S1142F |
probably benign |
Het |
| Nfe2l3 |
T |
C |
6: 51,433,604 (GRCm39) |
S239P |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,439,127 (GRCm39) |
I235V |
probably benign |
Het |
| Nyap2 |
T |
A |
1: 81,219,028 (GRCm39) |
L318Q |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,109,458 (GRCm39) |
V1522M |
probably damaging |
Het |
| Oog3 |
A |
G |
4: 143,885,731 (GRCm39) |
L289P |
probably damaging |
Het |
| Or52n20 |
C |
T |
7: 104,319,942 (GRCm39) |
P11L |
probably benign |
Het |
| Or5b107 |
A |
G |
19: 13,142,488 (GRCm39) |
I37V |
probably benign |
Het |
| Or6c69b |
T |
C |
10: 129,627,308 (GRCm39) |
D50G |
probably damaging |
Het |
| Or8b12b |
T |
A |
9: 37,684,726 (GRCm39) |
M257K |
possibly damaging |
Het |
| Or9g20 |
A |
T |
2: 85,630,391 (GRCm39) |
N74K |
probably benign |
Het |
| Pax6 |
T |
C |
2: 105,514,129 (GRCm39) |
|
probably benign |
Het |
| Pbrm1 |
G |
A |
14: 30,832,405 (GRCm39) |
R1441K |
probably benign |
Het |
| Pcdha9 |
C |
T |
18: 37,132,511 (GRCm39) |
R527W |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,450 (GRCm39) |
S747P |
probably benign |
Het |
| Pcnx3 |
A |
C |
19: 5,738,023 (GRCm39) |
|
probably null |
Het |
| Pds5a |
A |
T |
5: 65,808,632 (GRCm39) |
V413E |
probably damaging |
Het |
| Phpt1 |
G |
T |
2: 25,464,332 (GRCm39) |
|
probably benign |
Het |
| Phykpl |
A |
G |
11: 51,483,780 (GRCm39) |
E220G |
probably benign |
Het |
| Pias2 |
T |
C |
18: 77,193,587 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,269,639 (GRCm39) |
I3302L |
probably damaging |
Het |
| Poli |
A |
G |
18: 70,655,822 (GRCm39) |
L241P |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,515,284 (GRCm39) |
I65N |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,588,997 (GRCm39) |
L954P |
probably damaging |
Het |
| Pxk |
T |
G |
14: 8,136,893 (GRCm38) |
M138R |
probably damaging |
Het |
| Rasl11b |
G |
T |
5: 74,359,058 (GRCm39) |
D188Y |
probably damaging |
Het |
| Rtraf |
A |
G |
14: 19,872,644 (GRCm39) |
F59S |
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,565,243 (GRCm39) |
I248S |
possibly damaging |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Setdb2 |
G |
A |
14: 59,651,095 (GRCm39) |
T412I |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,606,043 (GRCm39) |
N75K |
probably damaging |
Het |
| Shank3 |
T |
A |
15: 89,427,318 (GRCm39) |
I791N |
probably damaging |
Het |
| Slc25a13 |
T |
A |
6: 6,114,274 (GRCm39) |
M213L |
possibly damaging |
Het |
| Slc25a21 |
T |
C |
12: 56,760,623 (GRCm39) |
Y298C |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,226,362 (GRCm39) |
N495S |
probably damaging |
Het |
| Smc2 |
A |
G |
4: 52,451,231 (GRCm39) |
T292A |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,939,425 (GRCm39) |
|
probably benign |
Het |
| Tas2r113 |
C |
T |
6: 132,870,745 (GRCm39) |
P258S |
probably benign |
Het |
| Tbkbp1 |
T |
C |
11: 97,029,567 (GRCm39) |
S530G |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,918,117 (GRCm39) |
V1881A |
probably damaging |
Het |
| Tm9sf1 |
C |
T |
14: 55,878,606 (GRCm39) |
R262Q |
possibly damaging |
Het |
| Tmcc3 |
G |
T |
10: 94,414,646 (GRCm39) |
G147V |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,972,264 (GRCm39) |
E195V |
probably damaging |
Het |
| Try5 |
T |
C |
6: 41,290,349 (GRCm39) |
Y45C |
probably benign |
Het |
| Umad1 |
A |
C |
6: 8,457,462 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
T |
C |
17: 20,428,953 (GRCm39) |
I708V |
probably benign |
Het |
| Zc3h12d |
A |
T |
10: 7,743,711 (GRCm39) |
S494C |
probably damaging |
Het |
| Zeb2 |
A |
G |
2: 44,887,780 (GRCm39) |
S382P |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,251,599 (GRCm39) |
S1304G |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,605,074 (GRCm39) |
T611K |
probably damaging |
Het |
| Zfp534 |
G |
A |
4: 147,758,743 (GRCm39) |
T642I |
possibly damaging |
Het |
|
| Other mutations in Cacna1s |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Cacna1s
|
APN |
1 |
136,012,011 (GRCm39) |
nonsense |
probably null |
|
|
IGL00517:Cacna1s
|
APN |
1 |
136,015,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01316:Cacna1s
|
APN |
1 |
136,046,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01348:Cacna1s
|
APN |
1 |
136,002,890 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01739:Cacna1s
|
APN |
1 |
136,024,870 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01773:Cacna1s
|
APN |
1 |
136,046,491 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02056:Cacna1s
|
APN |
1 |
136,046,738 (GRCm39) |
missense |
probably benign |
|
|
IGL02262:Cacna1s
|
APN |
1 |
136,035,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02324:Cacna1s
|
APN |
1 |
136,002,914 (GRCm39) |
splice site |
probably benign |
|
|
IGL02352:Cacna1s
|
APN |
1 |
136,020,990 (GRCm39) |
splice site |
probably benign |
|
|
IGL02359:Cacna1s
|
APN |
1 |
136,020,990 (GRCm39) |
splice site |
probably benign |
|
|
IGL02370:Cacna1s
|
APN |
1 |
136,013,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Cacna1s
|
APN |
1 |
135,996,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02474:Cacna1s
|
APN |
1 |
136,046,118 (GRCm39) |
missense |
probably benign |
|
|
IGL02606:Cacna1s
|
APN |
1 |
136,007,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02833:Cacna1s
|
APN |
1 |
135,998,743 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02974:Cacna1s
|
APN |
1 |
136,020,355 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03064:Cacna1s
|
APN |
1 |
136,039,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03093:Cacna1s
|
APN |
1 |
136,043,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03286:Cacna1s
|
APN |
1 |
136,005,397 (GRCm39) |
missense |
probably benign |
|
|
brookstone
|
UTSW |
1 |
136,020,432 (GRCm39) |
missense |
probably benign |
0.01 |
|
flyfish
|
UTSW |
1 |
136,043,799 (GRCm39) |
missense |
probably benign |
0.21 |
|
forelle
|
UTSW |
1 |
136,023,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
river
|
UTSW |
1 |
136,033,582 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
stream
|
UTSW |
1 |
136,033,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Cacna1s
|
UTSW |
1 |
136,012,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB019:Cacna1s
|
UTSW |
1 |
136,012,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
G1Funyon:Cacna1s
|
UTSW |
1 |
136,001,179 (GRCm39) |
unclassified |
probably benign |
|
|
N/A:Cacna1s
|
UTSW |
1 |
136,001,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0030:Cacna1s
|
UTSW |
1 |
136,022,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0030:Cacna1s
|
UTSW |
1 |
136,022,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0097:Cacna1s
|
UTSW |
1 |
136,028,360 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0097:Cacna1s
|
UTSW |
1 |
136,028,360 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0240:Cacna1s
|
UTSW |
1 |
136,001,234 (GRCm39) |
unclassified |
probably benign |
|
|
R0255:Cacna1s
|
UTSW |
1 |
136,046,544 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0302:Cacna1s
|
UTSW |
1 |
136,028,342 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0319:Cacna1s
|
UTSW |
1 |
135,998,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0411:Cacna1s
|
UTSW |
1 |
136,041,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Cacna1s
|
UTSW |
1 |
136,025,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0482:Cacna1s
|
UTSW |
1 |
136,041,132 (GRCm39) |
missense |
probably benign |
|
|
R0491:Cacna1s
|
UTSW |
1 |
136,016,746 (GRCm39) |
splice site |
probably benign |
|
|
R0518:Cacna1s
|
UTSW |
1 |
136,004,597 (GRCm39) |
missense |
probably benign |
|
|
R0717:Cacna1s
|
UTSW |
1 |
136,026,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0725:Cacna1s
|
UTSW |
1 |
136,026,264 (GRCm39) |
splice site |
probably benign |
|
|
R0815:Cacna1s
|
UTSW |
1 |
136,040,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1384:Cacna1s
|
UTSW |
1 |
136,022,709 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1518:Cacna1s
|
UTSW |
1 |
136,026,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1548:Cacna1s
|
UTSW |
1 |
136,038,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1725:Cacna1s
|
UTSW |
1 |
136,026,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Cacna1s
|
UTSW |
1 |
136,046,454 (GRCm39) |
missense |
probably benign |
|
|
R1729:Cacna1s
|
UTSW |
1 |
136,046,454 (GRCm39) |
missense |
probably benign |
|
|
R1730:Cacna1s
|
UTSW |
1 |
136,046,454 (GRCm39) |
missense |
probably benign |
|
|
R1739:Cacna1s
|
UTSW |
1 |
136,046,454 (GRCm39) |
missense |
probably benign |
|
|
R1762:Cacna1s
|
UTSW |
1 |
136,046,454 (GRCm39) |
missense |
probably benign |
|
|
R1783:Cacna1s
|
UTSW |
1 |
136,046,454 (GRCm39) |
missense |
probably benign |
|
|
R1784:Cacna1s
|
UTSW |
1 |
136,046,454 (GRCm39) |
missense |
probably benign |
|
|
R1785:Cacna1s
|
UTSW |
1 |
136,046,454 (GRCm39) |
missense |
probably benign |
|
|
R1800:Cacna1s
|
UTSW |
1 |
136,004,592 (GRCm39) |
missense |
probably benign |
|
|
R1924:Cacna1s
|
UTSW |
1 |
136,016,755 (GRCm39) |
splice site |
probably null |
|
|
R1969:Cacna1s
|
UTSW |
1 |
136,046,833 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2072:Cacna1s
|
UTSW |
1 |
136,007,242 (GRCm39) |
missense |
probably benign |
|
|
R2380:Cacna1s
|
UTSW |
1 |
136,023,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Cacna1s
|
UTSW |
1 |
136,002,831 (GRCm39) |
nonsense |
probably null |
|
|
R3112:Cacna1s
|
UTSW |
1 |
136,002,831 (GRCm39) |
nonsense |
probably null |
|
|
R3151:Cacna1s
|
UTSW |
1 |
136,033,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3696:Cacna1s
|
UTSW |
1 |
136,033,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Cacna1s
|
UTSW |
1 |
135,996,780 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3804:Cacna1s
|
UTSW |
1 |
136,034,756 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3813:Cacna1s
|
UTSW |
1 |
136,013,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3905:Cacna1s
|
UTSW |
1 |
136,012,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3907:Cacna1s
|
UTSW |
1 |
136,012,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3909:Cacna1s
|
UTSW |
1 |
136,012,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4170:Cacna1s
|
UTSW |
1 |
136,035,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4329:Cacna1s
|
UTSW |
1 |
136,046,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4485:Cacna1s
|
UTSW |
1 |
136,004,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4581:Cacna1s
|
UTSW |
1 |
135,998,708 (GRCm39) |
splice site |
probably null |
|
|
R4719:Cacna1s
|
UTSW |
1 |
136,046,390 (GRCm39) |
splice site |
probably benign |
|
|
R4909:Cacna1s
|
UTSW |
1 |
136,007,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4917:Cacna1s
|
UTSW |
1 |
136,029,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5296:Cacna1s
|
UTSW |
1 |
136,023,523 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5411:Cacna1s
|
UTSW |
1 |
136,033,549 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5503:Cacna1s
|
UTSW |
1 |
136,014,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5533:Cacna1s
|
UTSW |
1 |
136,026,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5714:Cacna1s
|
UTSW |
1 |
136,039,804 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5775:Cacna1s
|
UTSW |
1 |
136,035,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5814:Cacna1s
|
UTSW |
1 |
136,034,880 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5820:Cacna1s
|
UTSW |
1 |
136,007,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Cacna1s
|
UTSW |
1 |
136,039,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5877:Cacna1s
|
UTSW |
1 |
136,028,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5923:Cacna1s
|
UTSW |
1 |
136,004,560 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6021:Cacna1s
|
UTSW |
1 |
136,034,225 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6037:Cacna1s
|
UTSW |
1 |
135,998,705 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6037:Cacna1s
|
UTSW |
1 |
135,998,705 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6056:Cacna1s
|
UTSW |
1 |
136,033,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6143:Cacna1s
|
UTSW |
1 |
136,004,496 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6222:Cacna1s
|
UTSW |
1 |
136,032,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6237:Cacna1s
|
UTSW |
1 |
136,033,582 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6274:Cacna1s
|
UTSW |
1 |
136,016,783 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6609:Cacna1s
|
UTSW |
1 |
136,041,129 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6626:Cacna1s
|
UTSW |
1 |
136,022,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Cacna1s
|
UTSW |
1 |
136,012,175 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6848:Cacna1s
|
UTSW |
1 |
136,020,432 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6849:Cacna1s
|
UTSW |
1 |
136,020,432 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6850:Cacna1s
|
UTSW |
1 |
136,020,432 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6851:Cacna1s
|
UTSW |
1 |
136,020,432 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6868:Cacna1s
|
UTSW |
1 |
136,020,432 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6879:Cacna1s
|
UTSW |
1 |
136,043,697 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6893:Cacna1s
|
UTSW |
1 |
136,005,431 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7017:Cacna1s
|
UTSW |
1 |
136,023,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7228:Cacna1s
|
UTSW |
1 |
135,998,797 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7283:Cacna1s
|
UTSW |
1 |
136,001,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7357:Cacna1s
|
UTSW |
1 |
135,998,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7385:Cacna1s
|
UTSW |
1 |
136,020,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7421:Cacna1s
|
UTSW |
1 |
136,014,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7505:Cacna1s
|
UTSW |
1 |
136,013,187 (GRCm39) |
nonsense |
probably null |
|
|
R7519:Cacna1s
|
UTSW |
1 |
135,998,494 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7675:Cacna1s
|
UTSW |
1 |
136,038,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7746:Cacna1s
|
UTSW |
1 |
135,996,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7779:Cacna1s
|
UTSW |
1 |
136,046,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Cacna1s
|
UTSW |
1 |
135,998,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7932:Cacna1s
|
UTSW |
1 |
136,012,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7935:Cacna1s
|
UTSW |
1 |
136,020,333 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7950:Cacna1s
|
UTSW |
1 |
136,028,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7969:Cacna1s
|
UTSW |
1 |
136,004,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8083:Cacna1s
|
UTSW |
1 |
136,023,529 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8101:Cacna1s
|
UTSW |
1 |
136,046,403 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8123:Cacna1s
|
UTSW |
1 |
136,035,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Cacna1s
|
UTSW |
1 |
136,035,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Cacna1s
|
UTSW |
1 |
136,005,430 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8251:Cacna1s
|
UTSW |
1 |
136,014,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8265:Cacna1s
|
UTSW |
1 |
136,020,364 (GRCm39) |
nonsense |
probably null |
|
|
R8301:Cacna1s
|
UTSW |
1 |
136,001,179 (GRCm39) |
unclassified |
probably benign |
|
|
R8310:Cacna1s
|
UTSW |
1 |
136,015,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8359:Cacna1s
|
UTSW |
1 |
136,043,799 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8461:Cacna1s
|
UTSW |
1 |
136,001,440 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8553:Cacna1s
|
UTSW |
1 |
136,019,540 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8743:Cacna1s
|
UTSW |
1 |
136,033,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8766:Cacna1s
|
UTSW |
1 |
136,002,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8884:Cacna1s
|
UTSW |
1 |
136,042,981 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8897:Cacna1s
|
UTSW |
1 |
136,045,392 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8939:Cacna1s
|
UTSW |
1 |
136,014,544 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8953:Cacna1s
|
UTSW |
1 |
136,025,170 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9039:Cacna1s
|
UTSW |
1 |
136,016,057 (GRCm39) |
missense |
probably benign |
|
|
R9058:Cacna1s
|
UTSW |
1 |
135,998,436 (GRCm39) |
nonsense |
probably null |
|
|
R9137:Cacna1s
|
UTSW |
1 |
135,996,744 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9332:Cacna1s
|
UTSW |
1 |
136,020,452 (GRCm39) |
nonsense |
probably null |
|
|
R9416:Cacna1s
|
UTSW |
1 |
136,022,689 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9427:Cacna1s
|
UTSW |
1 |
136,012,090 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9446:Cacna1s
|
UTSW |
1 |
136,045,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9564:Cacna1s
|
UTSW |
1 |
136,046,516 (GRCm39) |
missense |
probably benign |
|
|
R9620:Cacna1s
|
UTSW |
1 |
136,035,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Cacna1s
|
UTSW |
1 |
136,043,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cacna1s
|
UTSW |
1 |
136,034,822 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Cacna1s
|
UTSW |
1 |
136,045,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAAAACAAGTGGGGCCAG -3'
(R):5'- ATGTAGGAAACGACCGTGTATC -3'
Sequencing Primer
(F):5'- GGAAAAGCATTTGTGGTCCCAACTC -3'
(R):5'- CGACCGTGTATCATATTTAGTGC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation