Incidental Mutation 'R7491:Cacna1a'
| ID |
580767 |
| 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 |
045565-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
R7491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85065268-85366875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85285922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 856
(R856S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121390]
[ENSMUST00000122053]
|
| AlphaFold |
P97445 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121390
AA Change: R856S
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112436
Gene: ENSMUSG00000034656
AA Change: R856S
| 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: R809S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114055
Gene: ENSMUSG00000034656
AA Change: R809S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
G |
T |
2: 68,445,099 (GRCm39) |
|
probably null |
Het |
| 5730522E02Rik |
A |
T |
11: 25,719,014 (GRCm39) |
V44E |
unknown |
Het |
| Adcy9 |
A |
G |
16: 4,236,673 (GRCm39) |
L246S |
possibly damaging |
Het |
| Adk |
C |
T |
14: 21,284,997 (GRCm39) |
H123Y |
probably damaging |
Het |
| Adra1b |
T |
A |
11: 43,726,794 (GRCm39) |
D41V |
probably benign |
Het |
| Ankib1 |
T |
G |
5: 3,751,911 (GRCm39) |
K710Q |
probably damaging |
Het |
| Aoc2 |
T |
A |
11: 101,219,203 (GRCm39) |
V542D |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,081,194 (GRCm39) |
N1221S |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT |
CACTGGTTCTGTGGTTACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT |
3: 95,795,450 (GRCm39) |
|
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,898,631 (GRCm39) |
V353A |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,590,304 (GRCm39) |
M1559V |
|
Het |
| Cdh10 |
G |
C |
15: 19,013,445 (GRCm39) |
E682Q |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,916,719 (GRCm39) |
D418G |
possibly damaging |
Het |
| Cfap44 |
T |
C |
16: 44,291,111 (GRCm39) |
L1537P |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,519,340 (GRCm39) |
S279P |
probably damaging |
Het |
| Col2a1 |
C |
T |
15: 97,874,040 (GRCm39) |
V1449I |
not run |
Het |
| Cpt2 |
A |
G |
4: 107,764,339 (GRCm39) |
F475S |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,235,487 (GRCm39) |
T502A |
probably benign |
Het |
| Creb3l2 |
G |
T |
6: 37,356,794 (GRCm39) |
T91N |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,119,601 (GRCm39) |
S1714T |
possibly damaging |
Het |
| Dennd1c |
C |
A |
17: 57,379,379 (GRCm39) |
V246F |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,028,561 (GRCm39) |
V843A |
probably benign |
Het |
| Ern2 |
C |
A |
7: 121,769,756 (GRCm39) |
W810L |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,472,281 (GRCm39) |
D906N |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,389,791 (GRCm39) |
E140G |
|
Het |
| Galnt7 |
A |
G |
8: 58,005,552 (GRCm39) |
V227A |
probably damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,249,763 (GRCm39) |
S452P |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gm826 |
A |
T |
2: 160,153,942 (GRCm39) |
S34T |
unknown |
Het |
| Gzmk |
A |
T |
13: 113,308,535 (GRCm39) |
I222N |
probably benign |
Het |
| Hivep3 |
A |
T |
4: 119,956,027 (GRCm39) |
T1448S |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,131,524 (GRCm39) |
D278G |
probably damaging |
Het |
| Ipo7 |
C |
A |
7: 109,638,401 (GRCm39) |
Q223K |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,598,179 (GRCm39) |
I571N |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,450,720 (GRCm39) |
Y573C |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,489,562 (GRCm39) |
H4459L |
probably damaging |
Het |
| Limch1 |
T |
G |
5: 67,211,580 (GRCm39) |
S894R |
probably damaging |
Het |
| Lrit2 |
A |
T |
14: 36,790,867 (GRCm39) |
Q182L |
possibly damaging |
Het |
| Mlph |
A |
T |
1: 90,867,100 (GRCm39) |
H374L |
possibly damaging |
Het |
| Mmrn2 |
A |
G |
14: 34,121,374 (GRCm39) |
H748R |
probably damaging |
Het |
| Mrpl58 |
T |
C |
11: 115,301,092 (GRCm39) |
V134A |
possibly damaging |
Het |
| Nae1 |
A |
T |
8: 105,244,871 (GRCm39) |
D353E |
probably benign |
Het |
| Naip5 |
A |
C |
13: 100,353,579 (GRCm39) |
F1227V |
probably benign |
Het |
| Nln |
A |
T |
13: 104,205,831 (GRCm39) |
F108I |
probably damaging |
Het |
| Nop16 |
C |
T |
13: 54,736,417 (GRCm39) |
V94I |
probably benign |
Het |
| Nt5c1b |
A |
T |
12: 10,424,903 (GRCm39) |
T150S |
probably benign |
Het |
| Or10d4b |
T |
G |
9: 39,535,268 (GRCm39) |
I281S |
possibly damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,087,689 (GRCm39) |
V624A |
probably damaging |
Het |
| Pcdhga8 |
T |
C |
18: 37,860,483 (GRCm39) |
I513T |
probably benign |
Het |
| Prc1 |
A |
T |
7: 79,959,239 (GRCm39) |
|
probably null |
Het |
| Prpf4 |
T |
A |
4: 62,336,113 (GRCm39) |
F280Y |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,051,392 (GRCm39) |
E43G |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,446,485 (GRCm39) |
D181E |
probably benign |
Het |
| Rab7 |
A |
G |
6: 87,990,624 (GRCm39) |
S17P |
probably damaging |
Het |
| Rgs1 |
T |
C |
1: 144,121,134 (GRCm39) |
Y179C |
probably damaging |
Het |
| Rrm1 |
T |
C |
7: 102,103,764 (GRCm39) |
C238R |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,426,528 (GRCm39) |
L1484Q |
probably damaging |
Het |
| Sall3 |
C |
T |
18: 81,015,920 (GRCm39) |
M669I |
probably benign |
Het |
| Saxo1 |
A |
C |
4: 86,363,644 (GRCm39) |
F280V |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,532,352 (GRCm39) |
S655P |
probably damaging |
Het |
| Senp6 |
G |
T |
9: 80,031,010 (GRCm39) |
E571* |
probably null |
Het |
| Sin3b |
C |
G |
8: 73,473,069 (GRCm39) |
T463S |
probably damaging |
Het |
| Sirt7 |
C |
A |
11: 120,509,837 (GRCm39) |
R349L |
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,053,730 (GRCm39) |
T80A |
probably damaging |
Het |
| Slc12a9 |
C |
A |
5: 137,321,082 (GRCm39) |
A478S |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,822 (GRCm39) |
R310* |
probably null |
Het |
| Slco6c1 |
A |
T |
1: 97,055,579 (GRCm39) |
H107Q |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,377,336 (GRCm39) |
E455G |
probably benign |
Het |
| Smo |
G |
C |
6: 29,736,119 (GRCm39) |
G37A |
probably damaging |
Het |
| St6galnac1 |
T |
C |
11: 116,660,010 (GRCm39) |
K101R |
probably benign |
Het |
| Stat1 |
C |
A |
1: 52,191,530 (GRCm39) |
N628K |
probably benign |
Het |
| Syn2 |
A |
T |
6: 115,231,615 (GRCm39) |
Y302F |
probably benign |
Het |
| Tapt1 |
T |
G |
5: 44,345,978 (GRCm39) |
Q324P |
probably damaging |
Het |
| Tgoln1 |
C |
T |
6: 72,593,403 (GRCm39) |
A26T |
unknown |
Het |
| Timm13 |
T |
A |
10: 80,736,378 (GRCm39) |
T43S |
probably benign |
Het |
| Tnfrsf19 |
G |
A |
14: 61,242,654 (GRCm39) |
P77S |
possibly damaging |
Het |
| Trem3 |
T |
G |
17: 48,564,969 (GRCm39) |
F157V |
probably benign |
Het |
| Trgv3 |
T |
A |
13: 19,427,016 (GRCm39) |
M1K |
probably null |
Het |
| Trim33 |
T |
A |
3: 103,233,464 (GRCm39) |
S420T |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,851,694 (GRCm39) |
K790R |
probably damaging |
Het |
| Trnt1 |
A |
G |
6: 106,755,865 (GRCm39) |
T307A |
probably benign |
Het |
| Tshz1 |
T |
C |
18: 84,033,766 (GRCm39) |
Y214C |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,827 (GRCm39) |
T117S |
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,484,342 (GRCm39) |
Y488H |
probably benign |
Het |
| Vwa8 |
A |
T |
14: 79,320,254 (GRCm39) |
K1088N |
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,036,000 (GRCm39) |
V257A |
probably benign |
Het |
| Zfp189 |
T |
A |
4: 49,521,569 (GRCm39) |
S3T |
probably benign |
Het |
| Zscan22 |
G |
A |
7: 12,640,833 (GRCm39) |
C359Y |
probably damaging |
Het |
| Zscan4-ps2 |
A |
T |
7: 11,251,812 (GRCm39) |
R283* |
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 |
|
R7409:Cacna1a
|
UTSW |
8 |
85,260,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGAATCCACTGGAGTTGCGG -3'
(R):5'- ACTCACTTTCTGCGTCGGTG -3'
Sequencing Primer
(F):5'- TCCTTGCCTTGCAGGAAG -3'
(R):5'- CCTGTCGTCGGGTTCGTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation