Incidental Mutation 'R4664:Cacna1a'
| ID |
353107 |
| 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 |
041922-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
R4664 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85065268-85366875 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 85328396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 1597
(Y1597*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121390]
[ENSMUST00000122053]
|
| AlphaFold |
P97445 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000121390
AA Change: Y1645*
|
| SMART Domains |
Protein: ENSMUSP00000112436
Gene: ENSMUSG00000034656
AA Change: Y1645*
| 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
AA Change: Y1598*
|
| SMART Domains |
Protein: ENSMUSP00000114055
Gene: ENSMUSG00000034656
AA Change: Y1598*
| 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: ENSMUST00000141981
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144879
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153691
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215756
AA Change: Y1597*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (110/115) |
| 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: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano2 |
A |
G |
6: 125,840,501 (GRCm39) |
I391V |
probably benign |
Het |
| Apc |
T |
A |
18: 34,431,647 (GRCm39) |
L349M |
probably damaging |
Het |
| Atmin |
A |
G |
8: 117,684,698 (GRCm39) |
D786G |
probably damaging |
Het |
| Atp8a1 |
T |
A |
5: 67,919,929 (GRCm39) |
D379V |
possibly damaging |
Het |
| Aurkb |
A |
G |
11: 68,939,435 (GRCm39) |
K173E |
probably damaging |
Het |
| Bak1 |
T |
C |
17: 27,241,510 (GRCm39) |
I83V |
possibly damaging |
Het |
| Btbd17 |
A |
C |
11: 114,684,832 (GRCm39) |
V69G |
probably damaging |
Het |
| Camk2a |
C |
A |
18: 61,088,696 (GRCm39) |
Q167K |
possibly damaging |
Het |
| Capn1 |
A |
T |
19: 6,061,045 (GRCm39) |
N253K |
probably benign |
Het |
| Ccer2 |
A |
G |
7: 28,455,928 (GRCm39) |
E40G |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,972,130 (GRCm39) |
T527A |
probably damaging |
Het |
| Cdkl2 |
T |
C |
5: 92,185,124 (GRCm39) |
D89G |
probably damaging |
Het |
| Cep128 |
G |
T |
12: 91,263,027 (GRCm39) |
R291S |
probably damaging |
Het |
| Cert1 |
T |
C |
13: 96,735,965 (GRCm39) |
V175A |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,078,465 (GRCm39) |
M203V |
possibly damaging |
Het |
| Chrna4 |
A |
G |
2: 180,679,286 (GRCm39) |
S54P |
probably damaging |
Het |
| Cic |
TGTTGCCCTC |
T |
7: 24,990,099 (GRCm39) |
|
probably benign |
Het |
| Cntn5 |
T |
A |
9: 10,144,214 (GRCm39) |
I152L |
possibly damaging |
Het |
| Cntn6 |
A |
G |
6: 104,705,245 (GRCm39) |
E154G |
probably benign |
Het |
| Col16a1 |
A |
C |
4: 129,955,883 (GRCm39) |
|
probably benign |
Het |
| Cpvl |
C |
T |
6: 53,908,918 (GRCm39) |
E282K |
probably benign |
Het |
| Cyth2 |
T |
C |
7: 45,460,143 (GRCm39) |
D183G |
probably damaging |
Het |
| Ddx47 |
A |
T |
6: 134,989,319 (GRCm39) |
T48S |
possibly damaging |
Het |
| Dgkk |
A |
G |
X: 6,794,751 (GRCm39) |
D685G |
probably benign |
Het |
| Dis3l |
C |
T |
9: 64,238,080 (GRCm39) |
S29N |
unknown |
Het |
| Dlg5 |
T |
C |
14: 24,187,249 (GRCm39) |
H1834R |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,905,536 (GRCm39) |
M4060T |
possibly damaging |
Het |
| Dock3 |
T |
A |
9: 106,870,743 (GRCm39) |
N557I |
possibly damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,219,831 (GRCm39) |
E37G |
probably damaging |
Het |
| Eprs1 |
A |
T |
1: 185,105,273 (GRCm39) |
|
probably benign |
Het |
| Faim2 |
C |
A |
15: 99,422,581 (GRCm39) |
|
probably null |
Het |
| Faim2 |
T |
G |
15: 99,422,582 (GRCm39) |
S72R |
probably benign |
Het |
| Fanca |
T |
C |
8: 123,995,711 (GRCm39) |
T1364A |
probably damaging |
Het |
| Fance |
T |
C |
17: 28,534,636 (GRCm39) |
|
probably benign |
Het |
| Farsb |
A |
T |
1: 78,420,402 (GRCm39) |
H496Q |
possibly damaging |
Het |
| Fryl |
C |
T |
5: 73,248,022 (GRCm39) |
E1032K |
possibly damaging |
Het |
| Galnt14 |
A |
T |
17: 73,814,808 (GRCm39) |
|
probably benign |
Het |
| Gba2 |
A |
T |
4: 43,568,619 (GRCm39) |
|
probably benign |
Het |
| Gjb4 |
C |
A |
4: 127,245,571 (GRCm39) |
K123N |
probably damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,709,980 (GRCm39) |
T56I |
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,412,756 (GRCm39) |
E55V |
probably damaging |
Het |
| Gtpbp2 |
T |
C |
17: 46,472,080 (GRCm39) |
V5A |
probably benign |
Het |
| Hnrnpr |
A |
G |
4: 136,044,486 (GRCm39) |
|
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Hsd3b3 |
T |
C |
3: 98,649,532 (GRCm39) |
S264G |
probably damaging |
Het |
| Ints8 |
T |
C |
4: 11,227,152 (GRCm39) |
M574V |
probably benign |
Het |
| Kif4-ps |
G |
A |
12: 101,115,477 (GRCm39) |
|
noncoding transcript |
Het |
| Klhl14 |
A |
T |
18: 21,687,765 (GRCm39) |
N552K |
probably benign |
Het |
| Klhl40 |
A |
G |
9: 121,609,799 (GRCm39) |
E528G |
probably damaging |
Het |
| Lactb2 |
T |
C |
1: 13,717,624 (GRCm39) |
E133G |
probably damaging |
Het |
| Lratd2 |
A |
T |
15: 60,695,478 (GRCm39) |
D89E |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,347,310 (GRCm39) |
|
probably null |
Het |
| Mab21l2 |
T |
A |
3: 86,454,811 (GRCm39) |
Y63F |
probably benign |
Het |
| Mbd1 |
T |
A |
18: 74,402,597 (GRCm39) |
I33N |
possibly damaging |
Het |
| Mertk |
G |
A |
2: 128,643,132 (GRCm39) |
V844M |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,044,448 (GRCm39) |
T652A |
possibly damaging |
Het |
| Nlrp4a |
C |
A |
7: 26,148,943 (GRCm39) |
Y183* |
probably null |
Het |
| Noa1 |
T |
A |
5: 77,447,600 (GRCm39) |
T558S |
probably benign |
Het |
| Nol11 |
A |
T |
11: 107,071,826 (GRCm39) |
S256T |
possibly damaging |
Het |
| Nr1d1 |
G |
T |
11: 98,662,086 (GRCm39) |
R183S |
possibly damaging |
Het |
| Nrg2 |
G |
T |
18: 36,185,948 (GRCm39) |
Q264K |
possibly damaging |
Het |
| Nsd3 |
T |
A |
8: 26,188,894 (GRCm39) |
F1027I |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,110,847 (GRCm39) |
I285F |
probably damaging |
Het |
| Obox8 |
T |
C |
7: 14,066,771 (GRCm39) |
N91S |
possibly damaging |
Het |
| Oga |
T |
C |
19: 45,760,384 (GRCm39) |
E258G |
probably benign |
Het |
| Orc5 |
C |
T |
5: 22,751,520 (GRCm39) |
S63N |
probably benign |
Het |
| Osbpl6 |
C |
T |
2: 76,398,552 (GRCm39) |
T412I |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,022,563 (GRCm39) |
C308Y |
probably damaging |
Het |
| Pacsin1 |
T |
C |
17: 27,926,038 (GRCm39) |
F127L |
probably damaging |
Het |
| Pex11b |
T |
C |
3: 96,551,151 (GRCm39) |
L198P |
possibly damaging |
Het |
| Pla2g4e |
A |
T |
2: 120,001,669 (GRCm39) |
V660E |
probably damaging |
Het |
| Plxna4 |
C |
A |
6: 32,493,885 (GRCm39) |
V244F |
possibly damaging |
Het |
| Polr3b |
A |
G |
10: 84,550,233 (GRCm39) |
Y981C |
probably damaging |
Het |
| Popdc2 |
T |
A |
16: 38,194,649 (GRCm39) |
S357T |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,267,159 (GRCm39) |
H58R |
probably damaging |
Het |
| Pyy |
T |
A |
11: 101,998,178 (GRCm39) |
M1L |
possibly damaging |
Het |
| Rasd2 |
T |
C |
8: 75,948,556 (GRCm39) |
S161P |
possibly damaging |
Het |
| Ryr3 |
C |
T |
2: 112,826,900 (GRCm39) |
|
probably benign |
Het |
| Sectm1a |
G |
A |
11: 120,960,552 (GRCm39) |
R88C |
possibly damaging |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Siglecf |
A |
T |
7: 43,005,837 (GRCm39) |
I465F |
possibly damaging |
Het |
| Sorl1 |
A |
T |
9: 41,915,347 (GRCm39) |
M1294K |
probably damaging |
Het |
| Spam1 |
A |
T |
6: 24,796,661 (GRCm39) |
H204L |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,450,468 (GRCm39) |
N2586Y |
possibly damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,700,263 (GRCm39) |
|
probably benign |
Het |
| Tceanc2 |
A |
T |
4: 107,022,757 (GRCm39) |
S77T |
probably damaging |
Het |
| Tedc2 |
A |
G |
17: 24,439,114 (GRCm39) |
|
probably benign |
Het |
| Tgm6 |
A |
G |
2: 129,979,314 (GRCm39) |
D148G |
probably benign |
Het |
| Tgm6 |
A |
T |
2: 129,983,128 (GRCm39) |
Q239L |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,337,313 (GRCm39) |
T1235S |
possibly damaging |
Het |
| Thsd7a |
T |
A |
6: 12,504,012 (GRCm39) |
I381F |
possibly damaging |
Het |
| Tmc4 |
T |
C |
7: 3,674,270 (GRCm39) |
|
probably null |
Het |
| Tmem54 |
A |
T |
4: 129,004,704 (GRCm39) |
E186D |
possibly damaging |
Het |
| Tpk1 |
A |
T |
6: 43,588,269 (GRCm39) |
F32I |
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,514,917 (GRCm39) |
I97T |
probably benign |
Het |
| Tut7 |
G |
A |
13: 59,948,413 (GRCm39) |
T636I |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,942 (GRCm39) |
E591G |
probably damaging |
Het |
| Tyk2 |
C |
T |
9: 21,025,503 (GRCm39) |
A741T |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,133,829 (GRCm39) |
E742K |
possibly damaging |
Het |
| Uckl1 |
A |
T |
2: 181,216,661 (GRCm39) |
S95T |
possibly damaging |
Het |
| Uevld |
T |
A |
7: 46,587,734 (GRCm39) |
D322V |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn1r238 |
G |
T |
18: 3,123,300 (GRCm39) |
T38K |
probably damaging |
Het |
| Vps8 |
T |
A |
16: 21,262,938 (GRCm39) |
|
probably null |
Het |
| Wdr83 |
T |
C |
8: 85,806,680 (GRCm39) |
|
probably benign |
Het |
| Zfp619 |
A |
G |
7: 39,183,559 (GRCm39) |
T51A |
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 |
|
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 |
|
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'- AAGTGCTTCTGTAATCGTCTGATG -3'
(R):5'- TCCGGAAGTTATTGTGCTCCG -3'
Sequencing Primer
(F):5'- GTAATCGTCTGATGTCTACACCCAG -3'
(R):5'- CGTCAATGCCGATGTTGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation