Incidental Mutation 'R7409:Cacna1a'
| ID |
574930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1a
|
| Ensembl Gene |
ENSMUSG00000034656 |
| Gene Name |
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
| Synonyms |
Cacnl1a4, Ccha1a, SCA6, alpha1A, smrl, nmf352 |
| MMRRC Submission |
045490-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R7409 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85065268-85366875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 85260031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 331
(D331E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121390]
[ENSMUST00000122053]
|
| AlphaFold |
P97445 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121390
AA Change: D331E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112436
Gene: ENSMUSG00000034656
AA Change: D331E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
47 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
99 |
373 |
1.5e-69 |
PFAM |
|
Pfam:Ion_trans
|
488 |
727 |
1.2e-54 |
PFAM |
|
Pfam:PKD_channel
|
578 |
721 |
6.6e-8 |
PFAM |
|
low complexity region
|
920 |
959 |
N/A |
INTRINSIC |
|
low complexity region
|
977 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
1074 |
1093 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1168 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1194 |
1472 |
4.9e-64 |
PFAM |
|
Pfam:Ion_trans
|
1516 |
1773 |
2.8e-64 |
PFAM |
|
Pfam:GPHH
|
1775 |
1844 |
5.6e-39 |
PFAM |
|
Ca_chan_IQ
|
1899 |
1933 |
1.8e-12 |
SMART |
|
AT_hook
|
2053 |
2065 |
2.02e0 |
SMART |
|
low complexity region
|
2101 |
2113 |
N/A |
INTRINSIC |
|
low complexity region
|
2153 |
2179 |
N/A |
INTRINSIC |
|
low complexity region
|
2213 |
2236 |
N/A |
INTRINSIC |
|
low complexity region
|
2253 |
2282 |
N/A |
INTRINSIC |
|
low complexity region
|
2314 |
2325 |
N/A |
INTRINSIC |
|
low complexity region
|
2342 |
2357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122053
AA Change: D284E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114055
Gene: ENSMUSG00000034656
AA Change: D284E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
47 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
91 |
314 |
4.5e-58 |
PFAM |
|
PDB:4DEX|B
|
317 |
427 |
5e-45 |
PDB |
|
Pfam:Ion_trans
|
476 |
668 |
6.4e-46 |
PFAM |
|
Pfam:PKD_channel
|
530 |
675 |
7.7e-8 |
PFAM |
|
low complexity region
|
873 |
912 |
N/A |
INTRINSIC |
|
low complexity region
|
930 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
1027 |
1046 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1121 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1183 |
1414 |
2.8e-54 |
PFAM |
|
Pfam:Ion_trans
|
1504 |
1714 |
3.2e-60 |
PFAM |
|
Ca_chan_IQ
|
1852 |
1886 |
1.8e-12 |
SMART |
|
AT_hook
|
2006 |
2018 |
2.02e0 |
SMART |
|
low complexity region
|
2054 |
2066 |
N/A |
INTRINSIC |
|
low complexity region
|
2106 |
2132 |
N/A |
INTRINSIC |
|
low complexity region
|
2166 |
2189 |
N/A |
INTRINSIC |
|
low complexity region
|
2206 |
2235 |
N/A |
INTRINSIC |
|
low complexity region
|
2267 |
2278 |
N/A |
INTRINSIC |
|
low complexity region
|
2295 |
2310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.2258 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (82/84) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
T |
4: 129,912,862 (GRCm39) |
A1329V |
probably benign |
Het |
| Aida |
A |
G |
1: 183,099,809 (GRCm39) |
T215A |
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,440,023 (GRCm39) |
S457P |
probably benign |
Het |
| Ap4b1 |
G |
A |
3: 103,719,474 (GRCm39) |
V63I |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,903,108 (GRCm39) |
V182A |
probably damaging |
Het |
| B4galnt4 |
G |
A |
7: 140,646,916 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
G |
T |
11: 78,159,583 (GRCm39) |
R544L |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,419,423 (GRCm39) |
|
probably null |
Het |
| Cdkn1b |
A |
T |
6: 134,898,280 (GRCm39) |
Q133L |
probably benign |
Het |
| Cep192 |
G |
C |
18: 67,967,874 (GRCm39) |
S786T |
possibly damaging |
Het |
| Cfap418 |
T |
A |
4: 10,881,834 (GRCm39) |
C94S |
probably benign |
Het |
| Cfap97 |
G |
A |
8: 46,645,733 (GRCm39) |
R537H |
probably benign |
Het |
| Clpx |
C |
G |
9: 65,231,529 (GRCm39) |
A552G |
possibly damaging |
Het |
| Cryl1 |
G |
A |
14: 57,523,842 (GRCm39) |
T240I |
probably damaging |
Het |
| Ddx60 |
C |
A |
8: 62,411,612 (GRCm39) |
T488K |
probably benign |
Het |
| Dennd4b |
A |
G |
3: 90,181,259 (GRCm39) |
H805R |
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,878,996 (GRCm39) |
D25G |
unknown |
Het |
| Dysf |
A |
C |
6: 84,126,664 (GRCm39) |
D1293A |
probably benign |
Het |
| Efl1 |
T |
C |
7: 82,347,121 (GRCm39) |
L549P |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,506,697 (GRCm39) |
|
probably benign |
Het |
| Eva1c |
A |
G |
16: 90,666,544 (GRCm39) |
K156E |
probably damaging |
Het |
| Fbxw10 |
T |
G |
11: 62,767,606 (GRCm39) |
V814G |
possibly damaging |
Het |
| Gfap |
C |
T |
11: 102,785,358 (GRCm39) |
R206Q |
probably benign |
Het |
| Gjb6 |
A |
T |
14: 57,361,610 (GRCm39) |
L217* |
probably null |
Het |
| Gpatch11 |
T |
A |
17: 79,146,595 (GRCm39) |
L80Q |
probably damaging |
Het |
| Gramd1b |
T |
C |
9: 40,238,727 (GRCm39) |
Q225R |
probably damaging |
Het |
| Gsdmc2 |
A |
G |
15: 63,705,195 (GRCm39) |
S173P |
possibly damaging |
Het |
| Hars1 |
C |
G |
18: 36,903,166 (GRCm39) |
R388P |
probably damaging |
Het |
| Ighm |
C |
T |
12: 113,385,852 (GRCm39) |
R129H |
|
Het |
| Igsf9 |
A |
G |
1: 172,322,841 (GRCm39) |
I602V |
probably benign |
Het |
| Inpp4b |
T |
G |
8: 82,679,314 (GRCm39) |
|
probably null |
Het |
| Itch |
C |
A |
2: 155,041,302 (GRCm39) |
T450K |
probably damaging |
Het |
| Kcnq1 |
T |
C |
7: 142,663,152 (GRCm39) |
F20L |
unknown |
Het |
| Kmt2d |
G |
T |
15: 98,753,235 (GRCm39) |
A153E |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,398,263 (GRCm39) |
N750I |
probably damaging |
Het |
| Marveld2 |
T |
A |
13: 100,747,984 (GRCm39) |
H365L |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
| Mettl8 |
A |
T |
2: 70,803,687 (GRCm39) |
V200E |
probably damaging |
Het |
| Mrgbp |
T |
G |
2: 180,227,135 (GRCm39) |
S157A |
possibly damaging |
Het |
| Mrps35 |
A |
G |
6: 146,957,481 (GRCm39) |
T169A |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,526,180 (GRCm39) |
Y551N |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,021,971 (GRCm39) |
R474G |
probably benign |
Het |
| Nfx1 |
T |
A |
4: 41,021,830 (GRCm39) |
S979R |
possibly damaging |
Het |
| Nlrp1a |
T |
C |
11: 71,013,634 (GRCm39) |
T539A |
probably benign |
Het |
| Oca2 |
T |
A |
7: 56,064,145 (GRCm39) |
D713E |
probably benign |
Het |
| Omt2b |
A |
C |
9: 78,235,894 (GRCm39) |
Y73S |
probably benign |
Het |
| Or10aa1 |
T |
A |
1: 173,870,099 (GRCm39) |
H194Q |
probably benign |
Het |
| Or13a27 |
C |
T |
7: 139,925,318 (GRCm39) |
V195I |
probably benign |
Het |
| Or6c38 |
A |
G |
10: 128,929,081 (GRCm39) |
I254T |
probably damaging |
Het |
| Or6c69 |
A |
T |
10: 129,748,120 (GRCm39) |
V9D |
possibly damaging |
Het |
| Pde11a |
G |
T |
2: 75,836,328 (GRCm39) |
Q20K |
|
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phrf1 |
C |
A |
7: 140,839,205 (GRCm39) |
T800K |
unknown |
Het |
| Polr1f |
T |
G |
12: 33,486,988 (GRCm39) |
C150W |
possibly damaging |
Het |
| Pramel4 |
T |
C |
4: 143,795,061 (GRCm39) |
S486P |
probably benign |
Het |
| Proc |
T |
C |
18: 32,260,513 (GRCm39) |
D204G |
probably benign |
Het |
| Rasgrp3 |
T |
A |
17: 75,823,411 (GRCm39) |
I494N |
possibly damaging |
Het |
| Samm50 |
A |
G |
15: 84,081,231 (GRCm39) |
D53G |
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,116,217 (GRCm39) |
D22G |
possibly damaging |
Het |
| Scarf2 |
T |
C |
16: 17,624,918 (GRCm39) |
S658P |
probably damaging |
Het |
| Sfta2 |
T |
A |
17: 35,925,410 (GRCm39) |
I29K |
unknown |
Het |
| Slc15a4 |
A |
T |
5: 127,681,742 (GRCm39) |
S292T |
probably benign |
Het |
| Slc37a1 |
C |
T |
17: 31,559,237 (GRCm39) |
T439I |
probably damaging |
Het |
| Slc4a9 |
C |
A |
18: 36,663,858 (GRCm39) |
P294Q |
probably damaging |
Het |
| Slc52a3 |
T |
C |
2: 151,846,086 (GRCm39) |
S16P |
probably damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,244,163 (GRCm39) |
I468V |
probably benign |
Het |
| Spag17 |
T |
C |
3: 99,934,547 (GRCm39) |
S610P |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,941,475 (GRCm39) |
D738V |
probably benign |
Het |
| Ssbp4 |
T |
C |
8: 71,050,617 (GRCm39) |
R269G |
unknown |
Het |
| Tbl1xr1 |
A |
G |
3: 22,257,354 (GRCm39) |
T406A |
possibly damaging |
Het |
| Tep1 |
A |
T |
14: 51,104,312 (GRCm39) |
V194D |
possibly damaging |
Het |
| Thbs4 |
A |
T |
13: 92,909,767 (GRCm39) |
C343* |
probably null |
Het |
| Tmed10 |
A |
T |
12: 85,391,065 (GRCm39) |
S158T |
possibly damaging |
Het |
| Trbv3 |
T |
A |
6: 41,025,524 (GRCm39) |
V38E |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,743,772 (GRCm39) |
M1258T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,589,320 (GRCm39) |
D21281G |
probably damaging |
Het |
| Usp54 |
T |
C |
14: 20,602,313 (GRCm39) |
R1346G |
probably damaging |
Het |
| Vmn2r8 |
C |
A |
5: 108,956,449 (GRCm39) |
E58* |
probably null |
Het |
| Vps13d |
C |
T |
4: 144,867,824 (GRCm39) |
E2009K |
|
Het |
| Vps33b |
T |
C |
7: 79,935,017 (GRCm39) |
I320T |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Ythdf1 |
T |
C |
2: 180,553,786 (GRCm39) |
Y143C |
probably damaging |
Het |
| Zfp213 |
C |
T |
17: 23,778,603 (GRCm39) |
|
probably null |
Het |
| Zfp219 |
A |
T |
14: 52,244,570 (GRCm39) |
Y536* |
probably null |
Het |
|
| Other mutations in Cacna1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Cacna1a
|
APN |
8 |
85,297,837 (GRCm39) |
nonsense |
probably null |
|
|
IGL00513:Cacna1a
|
APN |
8 |
85,279,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00569:Cacna1a
|
APN |
8 |
85,189,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00981:Cacna1a
|
APN |
8 |
85,275,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01122:Cacna1a
|
APN |
8 |
85,341,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01309:Cacna1a
|
APN |
8 |
85,249,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01380:Cacna1a
|
APN |
8 |
85,285,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01638:Cacna1a
|
APN |
8 |
85,298,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01682:Cacna1a
|
APN |
8 |
85,263,067 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02751:Cacna1a
|
APN |
8 |
85,296,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02904:Cacna1a
|
APN |
8 |
85,306,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03122:Cacna1a
|
APN |
8 |
85,189,305 (GRCm39) |
splice site |
probably benign |
|
|
totter
|
UTSW |
8 |
85,315,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
totter2
|
UTSW |
8 |
85,315,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4340:Cacna1a
|
UTSW |
8 |
85,365,352 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Cacna1a
|
UTSW |
8 |
85,365,352 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Cacna1a
|
UTSW |
8 |
85,365,349 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Cacna1a
|
UTSW |
8 |
85,365,343 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Cacna1a
|
UTSW |
8 |
85,365,346 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Cacna1a
|
UTSW |
8 |
85,365,355 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Cacna1a
|
UTSW |
8 |
85,365,349 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Cacna1a
|
UTSW |
8 |
85,365,355 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Cacna1a
|
UTSW |
8 |
85,365,346 (GRCm39) |
small insertion |
probably benign |
|
|
IGL03134:Cacna1a
|
UTSW |
8 |
85,285,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Cacna1a
|
UTSW |
8 |
85,306,687 (GRCm39) |
splice site |
probably benign |
|
|
R0118:Cacna1a
|
UTSW |
8 |
85,262,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0284:Cacna1a
|
UTSW |
8 |
85,338,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0581:Cacna1a
|
UTSW |
8 |
85,328,565 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0607:Cacna1a
|
UTSW |
8 |
85,356,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Cacna1a
|
UTSW |
8 |
85,306,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Cacna1a
|
UTSW |
8 |
85,306,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Cacna1a
|
UTSW |
8 |
85,241,579 (GRCm39) |
splice site |
probably benign |
|
|
R1503:Cacna1a
|
UTSW |
8 |
85,328,575 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1522:Cacna1a
|
UTSW |
8 |
85,360,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1835:Cacna1a
|
UTSW |
8 |
85,307,986 (GRCm39) |
splice site |
probably null |
|
|
R1862:Cacna1a
|
UTSW |
8 |
85,142,559 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2148:Cacna1a
|
UTSW |
8 |
85,356,304 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2237:Cacna1a
|
UTSW |
8 |
85,360,394 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2567:Cacna1a
|
UTSW |
8 |
85,276,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2999:Cacna1a
|
UTSW |
8 |
85,294,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3025:Cacna1a
|
UTSW |
8 |
85,306,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3610:Cacna1a
|
UTSW |
8 |
85,285,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3702:Cacna1a
|
UTSW |
8 |
85,344,475 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3763:Cacna1a
|
UTSW |
8 |
85,310,271 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4025:Cacna1a
|
UTSW |
8 |
85,307,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4026:Cacna1a
|
UTSW |
8 |
85,307,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4106:Cacna1a
|
UTSW |
8 |
85,310,324 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4296:Cacna1a
|
UTSW |
8 |
85,285,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Cacna1a
|
UTSW |
8 |
85,328,396 (GRCm39) |
nonsense |
probably null |
|
|
R4713:Cacna1a
|
UTSW |
8 |
85,276,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Cacna1a
|
UTSW |
8 |
85,313,824 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5408:Cacna1a
|
UTSW |
8 |
85,276,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Cacna1a
|
UTSW |
8 |
85,189,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5734:Cacna1a
|
UTSW |
8 |
85,310,360 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5786:Cacna1a
|
UTSW |
8 |
85,142,350 (GRCm39) |
unclassified |
probably benign |
|
|
R5833:Cacna1a
|
UTSW |
8 |
85,245,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5886:Cacna1a
|
UTSW |
8 |
85,249,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6049:Cacna1a
|
UTSW |
8 |
85,365,475 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6054:Cacna1a
|
UTSW |
8 |
85,283,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6117:Cacna1a
|
UTSW |
8 |
85,341,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Cacna1a
|
UTSW |
8 |
85,296,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Cacna1a
|
UTSW |
8 |
85,315,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6233:Cacna1a
|
UTSW |
8 |
85,315,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6607:Cacna1a
|
UTSW |
8 |
85,306,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Cacna1a
|
UTSW |
8 |
85,306,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Cacna1a
|
UTSW |
8 |
85,338,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6831:Cacna1a
|
UTSW |
8 |
85,297,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Cacna1a
|
UTSW |
8 |
85,338,914 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7051:Cacna1a
|
UTSW |
8 |
85,356,544 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7270:Cacna1a
|
UTSW |
8 |
85,297,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7491:Cacna1a
|
UTSW |
8 |
85,285,922 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7511:Cacna1a
|
UTSW |
8 |
85,294,311 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7745:Cacna1a
|
UTSW |
8 |
85,286,023 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7872:Cacna1a
|
UTSW |
8 |
85,310,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7899:Cacna1a
|
UTSW |
8 |
85,320,802 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7986:Cacna1a
|
UTSW |
8 |
85,365,408 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8126:Cacna1a
|
UTSW |
8 |
85,359,881 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8266:Cacna1a
|
UTSW |
8 |
85,285,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Cacna1a
|
UTSW |
8 |
85,276,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8504:Cacna1a
|
UTSW |
8 |
85,365,370 (GRCm39) |
missense |
probably benign |
|
|
R8530:Cacna1a
|
UTSW |
8 |
85,339,043 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8750:Cacna1a
|
UTSW |
8 |
85,285,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8817:Cacna1a
|
UTSW |
8 |
85,365,426 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8856:Cacna1a
|
UTSW |
8 |
85,286,070 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8893:Cacna1a
|
UTSW |
8 |
85,313,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9083:Cacna1a
|
UTSW |
8 |
85,344,511 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9087:Cacna1a
|
UTSW |
8 |
85,365,432 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9118:Cacna1a
|
UTSW |
8 |
85,262,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9133:Cacna1a
|
UTSW |
8 |
85,276,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9175:Cacna1a
|
UTSW |
8 |
85,296,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9233:Cacna1a
|
UTSW |
8 |
85,271,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Cacna1a
|
UTSW |
8 |
85,263,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9331:Cacna1a
|
UTSW |
8 |
85,142,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Cacna1a
|
UTSW |
8 |
85,296,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9531:Cacna1a
|
UTSW |
8 |
85,320,801 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9532:Cacna1a
|
UTSW |
8 |
85,338,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9590:Cacna1a
|
UTSW |
8 |
85,328,610 (GRCm39) |
nonsense |
probably null |
|
|
R9710:Cacna1a
|
UTSW |
8 |
85,320,808 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
RF029:Cacna1a
|
UTSW |
8 |
85,365,353 (GRCm39) |
small insertion |
probably benign |
|
|
X0022:Cacna1a
|
UTSW |
8 |
85,360,328 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1176:Cacna1a
|
UTSW |
8 |
85,142,305 (GRCm39) |
missense |
unknown |
|
|
Z1177:Cacna1a
|
UTSW |
8 |
85,306,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1188:Cacna1a
|
UTSW |
8 |
85,241,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGACATGAGACAGCTTTGTCC -3'
(R):5'- CTTGCTGACTGAAACCAGGAAG -3'
Sequencing Primer
(F):5'- GTATCTTGGTGATAGCCCCCAAAC -3'
(R):5'- CTGAAACCAGGAAGGAAGTTTCTTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation