Incidental Mutation 'R1835:Cacna1a'
ID |
205174 |
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 |
039862-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.924)
|
Stock # |
R1835 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
85065268-85366875 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 85307986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121390]
[ENSMUST00000122053]
|
AlphaFold |
P97445 |
Predicted Effect |
probably null
Transcript: ENSMUST00000121390
|
SMART Domains |
Protein: ENSMUSP00000112436 Gene: ENSMUSG00000034656
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 null
Transcript: ENSMUST00000122053
|
SMART Domains |
Protein: ENSMUSP00000114055 Gene: ENSMUSG00000034656
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 |
noncoding transcript
Transcript: ENSMUST00000126302
|
Predicted Effect |
probably null
Transcript: ENSMUST00000215756
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.0%
|
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: 97 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
T |
A |
2: 155,400,550 (GRCm39) |
Y530N |
probably damaging |
Het |
Adam4 |
T |
C |
12: 81,466,333 (GRCm39) |
I763V |
probably benign |
Het |
Aipl1 |
T |
G |
11: 71,921,325 (GRCm39) |
K190T |
possibly damaging |
Het |
Alms1 |
T |
A |
6: 85,655,485 (GRCm39) |
S3344T |
possibly damaging |
Het |
Alpi |
A |
G |
1: 87,027,136 (GRCm39) |
V381A |
possibly damaging |
Het |
Ankfn1 |
A |
T |
11: 89,338,444 (GRCm39) |
S365R |
probably benign |
Het |
Aox1 |
G |
A |
1: 58,348,150 (GRCm39) |
A623T |
probably benign |
Het |
Apc |
T |
A |
18: 34,450,130 (GRCm39) |
L2308Q |
probably damaging |
Het |
Atp9b |
C |
T |
18: 80,822,098 (GRCm39) |
V501I |
probably benign |
Het |
Baz2b |
T |
C |
2: 59,732,163 (GRCm39) |
E1994G |
probably benign |
Het |
Bltp2 |
G |
T |
11: 78,178,576 (GRCm39) |
V1993F |
probably damaging |
Het |
Cacna1h |
C |
A |
17: 25,611,050 (GRCm39) |
V583L |
probably benign |
Het |
Cd55 |
T |
C |
1: 130,375,346 (GRCm39) |
|
probably benign |
Het |
Cep192 |
T |
A |
18: 67,937,494 (GRCm39) |
S75T |
possibly damaging |
Het |
Cfap54 |
T |
A |
10: 92,798,237 (GRCm39) |
D1674V |
probably benign |
Het |
Churc1 |
T |
C |
12: 76,820,071 (GRCm39) |
F27L |
possibly damaging |
Het |
Coro1c |
A |
G |
5: 113,986,604 (GRCm39) |
I280T |
probably benign |
Het |
Creb1 |
C |
T |
1: 64,590,109 (GRCm39) |
Q32* |
probably null |
Het |
Cyp2b9 |
A |
G |
7: 25,900,208 (GRCm39) |
T339A |
probably benign |
Het |
Dctn3 |
T |
C |
4: 41,720,813 (GRCm39) |
R51G |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,603,957 (GRCm39) |
V888A |
probably damaging |
Het |
Disp1 |
A |
G |
1: 182,870,564 (GRCm39) |
Y619H |
probably damaging |
Het |
Dnajc9 |
T |
C |
14: 20,438,402 (GRCm39) |
D96G |
possibly damaging |
Het |
Eepd1 |
A |
G |
9: 25,394,164 (GRCm39) |
T143A |
possibly damaging |
Het |
Eps8 |
T |
A |
6: 137,499,277 (GRCm39) |
K204* |
probably null |
Het |
Ercc5 |
T |
A |
1: 44,220,035 (GRCm39) |
S1102R |
probably benign |
Het |
Ergic2 |
T |
A |
6: 148,091,079 (GRCm39) |
Y211F |
possibly damaging |
Het |
Fam135b |
G |
T |
15: 71,362,560 (GRCm39) |
L274M |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,384 (GRCm39) |
T2206I |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,037,720 (GRCm39) |
I3791V |
probably benign |
Het |
Gemin4 |
A |
G |
11: 76,104,122 (GRCm39) |
M213T |
possibly damaging |
Het |
Gnai3 |
T |
C |
3: 108,025,723 (GRCm39) |
M119V |
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,080,992 (GRCm39) |
L1420Q |
probably damaging |
Het |
Herc2 |
G |
T |
7: 55,856,513 (GRCm39) |
G3918* |
probably null |
Het |
Ints9 |
A |
G |
14: 65,269,705 (GRCm39) |
Y465C |
probably damaging |
Het |
Ist1 |
A |
G |
8: 110,405,515 (GRCm39) |
V175A |
probably damaging |
Het |
Kcnj12 |
T |
C |
11: 60,960,383 (GRCm39) |
L227P |
possibly damaging |
Het |
Kcnq5 |
T |
C |
1: 21,536,611 (GRCm39) |
S416G |
probably benign |
Het |
Kdm3a |
T |
A |
6: 71,590,940 (GRCm39) |
T295S |
probably benign |
Het |
Kif1c |
T |
A |
11: 70,599,797 (GRCm39) |
M479K |
probably damaging |
Het |
Kif20b |
T |
C |
19: 34,933,438 (GRCm39) |
L83P |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,507,624 (GRCm39) |
E1194G |
probably damaging |
Het |
Llgl1 |
A |
G |
11: 60,595,556 (GRCm39) |
M81V |
probably benign |
Het |
Map4k5 |
C |
A |
12: 69,871,436 (GRCm39) |
M495I |
probably damaging |
Het |
Mest |
C |
T |
6: 30,742,790 (GRCm39) |
R146C |
probably benign |
Het |
Mettl24 |
T |
A |
10: 40,613,812 (GRCm39) |
|
probably null |
Het |
Mical1 |
T |
C |
10: 41,359,531 (GRCm39) |
S586P |
probably benign |
Het |
Mrgpra3 |
G |
T |
7: 47,239,694 (GRCm39) |
Y77* |
probably null |
Het |
Mss51 |
A |
T |
14: 20,533,246 (GRCm39) |
C408* |
probably null |
Het |
Myh6 |
T |
C |
14: 55,194,858 (GRCm39) |
T666A |
probably benign |
Het |
Myo10 |
T |
C |
15: 25,805,673 (GRCm39) |
C1685R |
possibly damaging |
Het |
Naip5 |
A |
T |
13: 100,359,726 (GRCm39) |
Y503* |
probably null |
Het |
Neil1 |
A |
C |
9: 57,053,888 (GRCm39) |
F144C |
probably damaging |
Het |
Nipbl |
T |
A |
15: 8,373,001 (GRCm39) |
I1082F |
possibly damaging |
Het |
Nkiras1 |
T |
C |
14: 18,276,732 (GRCm38) |
V7A |
probably damaging |
Het |
Nt5el |
C |
A |
13: 105,218,702 (GRCm39) |
A12E |
unknown |
Het |
Ntng2 |
G |
A |
2: 29,087,069 (GRCm39) |
Q384* |
probably null |
Het |
Ocrl |
T |
A |
X: 47,050,993 (GRCm39) |
I74N |
probably damaging |
Het |
Or10j27 |
A |
G |
1: 172,958,382 (GRCm39) |
V134A |
probably benign |
Het |
Or13a22 |
A |
G |
7: 140,072,622 (GRCm39) |
S24G |
probably benign |
Het |
Or14j8 |
C |
T |
17: 38,263,276 (GRCm39) |
G213E |
possibly damaging |
Het |
Or1e22 |
A |
C |
11: 73,377,200 (GRCm39) |
V150G |
probably benign |
Het |
Or2j3 |
A |
T |
17: 38,616,203 (GRCm39) |
S50T |
probably benign |
Het |
Or2y1 |
A |
T |
11: 49,385,497 (GRCm39) |
I46F |
probably damaging |
Het |
Patj |
A |
G |
4: 98,379,827 (GRCm39) |
D151G |
probably benign |
Het |
Plpbp |
T |
C |
8: 27,539,259 (GRCm39) |
V126A |
probably damaging |
Het |
Pold2 |
A |
G |
11: 5,823,454 (GRCm39) |
L325P |
possibly damaging |
Het |
Ppp1r12c |
A |
C |
7: 4,486,650 (GRCm39) |
S480A |
probably damaging |
Het |
Pum1 |
T |
C |
4: 130,428,359 (GRCm39) |
S124P |
possibly damaging |
Het |
Pwp2 |
C |
G |
10: 78,014,925 (GRCm39) |
G353A |
probably damaging |
Het |
Reln |
C |
A |
5: 22,184,000 (GRCm39) |
Q1666H |
probably damaging |
Het |
Rnf19a |
T |
C |
15: 36,266,071 (GRCm39) |
I9V |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,784,764 (GRCm39) |
H1063R |
probably benign |
Het |
Samd14 |
C |
G |
11: 94,914,426 (GRCm39) |
D361E |
probably damaging |
Het |
Samd15 |
A |
T |
12: 87,248,617 (GRCm39) |
N365I |
probably damaging |
Het |
Sec16b |
A |
G |
1: 157,358,882 (GRCm39) |
H105R |
probably benign |
Het |
Sez6 |
T |
C |
11: 77,844,329 (GRCm39) |
S51P |
probably benign |
Het |
Sh3bp1 |
T |
A |
15: 78,789,350 (GRCm39) |
L236Q |
probably damaging |
Het |
Sspo |
C |
T |
6: 48,434,274 (GRCm39) |
T991I |
probably damaging |
Het |
Suco |
A |
T |
1: 161,687,069 (GRCm39) |
L97* |
probably null |
Het |
Tab1 |
C |
A |
15: 80,032,497 (GRCm39) |
R35S |
probably benign |
Het |
Tet3 |
C |
A |
6: 83,381,145 (GRCm39) |
S341I |
possibly damaging |
Het |
Tlr1 |
A |
T |
5: 65,083,043 (GRCm39) |
D511E |
probably benign |
Het |
Tmem132b |
A |
C |
5: 125,862,963 (GRCm39) |
D656A |
probably damaging |
Het |
Tmtc4 |
T |
A |
14: 123,179,400 (GRCm39) |
|
probably null |
Het |
Trmo |
T |
C |
4: 46,380,158 (GRCm39) |
T404A |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,880,016 (GRCm39) |
K790E |
probably damaging |
Het |
Ulk4 |
C |
A |
9: 120,997,250 (GRCm39) |
R774M |
probably null |
Het |
Ush2a |
C |
T |
1: 188,184,015 (GRCm39) |
L1440F |
probably benign |
Het |
Usp16 |
A |
G |
16: 87,277,795 (GRCm39) |
K682E |
probably damaging |
Het |
Virma |
T |
C |
4: 11,540,511 (GRCm39) |
S1471P |
probably benign |
Het |
Vmn1r177 |
A |
T |
7: 23,565,111 (GRCm39) |
I255N |
probably damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,916,076 (GRCm39) |
R230* |
probably null |
Het |
Vps13c |
T |
A |
9: 67,900,295 (GRCm39) |
F3671L |
probably benign |
Het |
Washc5 |
T |
C |
15: 59,231,189 (GRCm39) |
N358S |
possibly damaging |
Het |
Wdr72 |
A |
G |
9: 74,058,899 (GRCm39) |
K331E |
probably damaging |
Het |
Zfp986 |
A |
T |
4: 145,625,805 (GRCm39) |
K155I |
probably benign |
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 |
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 |
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'- TACACTCAAGCCAGGGTCTC -3'
(R):5'- AAGTCTGTGTTCACATTTGTGC -3'
Sequencing Primer
(F):5'- AGCACACGTGGCCTTAGG -3'
(R):5'- GGACCTGAGCTTCCCAACAG -3'
|
Posted On |
2014-06-23 |