Incidental Mutation 'R6980:Cacna1a'
ID |
543776 |
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 |
045088-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.936)
|
Stock # |
R6980 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
85065268-85366875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85338914 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1753
(M1753V)
|
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: M1753V
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112436 Gene: ENSMUSG00000034656 AA Change: M1753V
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 benign
Transcript: ENSMUST00000122053
AA Change: M1706V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000114055 Gene: ENSMUSG00000034656 AA Change: M1706V
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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
C |
A |
2: 25,330,878 (GRCm39) |
R1189S |
possibly damaging |
Het |
Abcf2 |
T |
C |
5: 24,770,970 (GRCm39) |
Q594R |
probably benign |
Het |
Abhd18 |
G |
A |
3: 40,888,215 (GRCm39) |
S353N |
probably benign |
Het |
Adrb1 |
G |
T |
19: 56,712,046 (GRCm39) |
A415S |
probably benign |
Het |
Art2b |
T |
C |
7: 101,229,680 (GRCm39) |
N73S |
probably benign |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
BC028528 |
CACTGGTTCTGTGGT |
CACTGGTTCTGTGGTTACTGGTTCTGTGGT |
3: 95,795,480 (GRCm39) |
|
probably benign |
Het |
BC028528 |
ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCTCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC |
3: 95,795,451 (GRCm39) |
|
probably benign |
Het |
Cbx8 |
A |
T |
11: 118,930,287 (GRCm39) |
I102N |
possibly damaging |
Het |
Ccdc178 |
T |
A |
18: 22,238,620 (GRCm39) |
E332D |
probably benign |
Het |
Cdhr17 |
T |
A |
5: 17,031,944 (GRCm39) |
V533D |
possibly damaging |
Het |
Cfap74 |
G |
A |
4: 155,550,809 (GRCm39) |
|
probably benign |
Het |
Chat |
A |
T |
14: 32,146,111 (GRCm39) |
M354K |
probably benign |
Het |
Cmas |
A |
G |
6: 142,702,526 (GRCm39) |
T10A |
probably damaging |
Het |
Cyb561d1 |
A |
T |
3: 108,107,475 (GRCm39) |
L51H |
probably benign |
Het |
D030056L22Rik |
A |
T |
19: 18,694,629 (GRCm39) |
N128I |
probably damaging |
Het |
D130043K22Rik |
G |
T |
13: 25,048,764 (GRCm39) |
A423S |
probably damaging |
Het |
Dnah14 |
T |
C |
1: 181,475,795 (GRCm39) |
I1349T |
probably benign |
Het |
Dnajb3 |
T |
G |
1: 88,132,736 (GRCm39) |
D222A |
probably damaging |
Het |
Dtx1 |
T |
C |
5: 120,819,422 (GRCm39) |
E592G |
probably damaging |
Het |
Dzank1 |
C |
T |
2: 144,332,056 (GRCm39) |
G427R |
possibly damaging |
Het |
E130308A19Rik |
A |
C |
4: 59,719,991 (GRCm39) |
K508Q |
probably damaging |
Het |
Eif4e1b |
T |
A |
13: 54,931,916 (GRCm39) |
|
probably null |
Het |
Ell2 |
A |
G |
13: 75,904,495 (GRCm39) |
M159V |
probably null |
Het |
Eml4 |
G |
A |
17: 83,758,446 (GRCm39) |
V377I |
probably benign |
Het |
Fryl |
A |
T |
5: 73,207,773 (GRCm39) |
S2466T |
probably benign |
Het |
Gfpt1 |
C |
A |
6: 87,054,071 (GRCm39) |
T426K |
probably damaging |
Het |
Gm49355 |
T |
C |
14: 12,307,173 (GRCm38) |
|
probably benign |
Het |
Gm5114 |
T |
C |
7: 39,058,624 (GRCm39) |
I332V |
probably benign |
Het |
Gpr15 |
T |
A |
16: 58,539,105 (GRCm39) |
|
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,225,684 (GRCm39) |
E2157G |
probably benign |
Het |
Gramd4 |
A |
G |
15: 86,016,170 (GRCm39) |
N482S |
probably benign |
Het |
Hfm1 |
A |
T |
5: 107,028,343 (GRCm39) |
I829K |
probably benign |
Het |
Hydin |
A |
T |
8: 111,139,916 (GRCm39) |
E728D |
possibly damaging |
Het |
Ifngr2 |
T |
A |
16: 91,356,895 (GRCm39) |
V143E |
probably damaging |
Het |
Ift172 |
T |
C |
5: 31,414,730 (GRCm39) |
D1390G |
probably benign |
Het |
Kdf1 |
A |
T |
4: 133,256,138 (GRCm39) |
D285V |
probably damaging |
Het |
Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
Mdn1 |
G |
A |
4: 32,726,942 (GRCm39) |
|
probably null |
Het |
Megf11 |
A |
G |
9: 64,613,132 (GRCm39) |
E1016G |
probably damaging |
Het |
Mixl1 |
G |
A |
1: 180,524,453 (GRCm39) |
A42V |
possibly damaging |
Het |
Mpp2 |
A |
G |
11: 101,950,154 (GRCm39) |
W567R |
probably damaging |
Het |
Mrgpra6 |
A |
G |
7: 46,838,697 (GRCm39) |
L136P |
probably damaging |
Het |
Mroh7 |
T |
A |
4: 106,557,434 (GRCm39) |
I759L |
probably benign |
Het |
Nrxn2 |
A |
G |
19: 6,500,609 (GRCm39) |
D277G |
probably benign |
Het |
Nup210l |
A |
T |
3: 90,027,234 (GRCm39) |
K205N |
probably benign |
Het |
Or4g17 |
A |
G |
2: 111,209,620 (GRCm39) |
I92V |
possibly damaging |
Het |
Or4p4b-ps1 |
A |
G |
2: 88,453,939 (GRCm39) |
*97W |
probably null |
Het |
Or52e19b |
T |
C |
7: 103,032,303 (GRCm39) |
E302G |
probably benign |
Het |
Or5al6 |
A |
T |
2: 85,976,681 (GRCm39) |
Y132* |
probably null |
Het |
Oxnad1 |
C |
T |
14: 31,807,576 (GRCm39) |
|
probably benign |
Het |
Pamr1 |
C |
T |
2: 102,472,549 (GRCm39) |
T616I |
probably benign |
Het |
Pcdhgb5 |
C |
T |
18: 37,866,592 (GRCm39) |
H796Y |
possibly damaging |
Het |
Pdlim7 |
G |
T |
13: 55,656,041 (GRCm39) |
D126E |
probably benign |
Het |
Pfdn2 |
C |
T |
1: 171,185,465 (GRCm39) |
|
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,216,032 (GRCm39) |
|
probably null |
Het |
Pms2 |
A |
T |
5: 143,848,842 (GRCm39) |
I43L |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
Ptpn4 |
T |
A |
1: 119,671,151 (GRCm39) |
E202D |
possibly damaging |
Het |
Rnf40 |
T |
A |
7: 127,193,849 (GRCm39) |
V455E |
probably damaging |
Het |
Rp1l1 |
A |
G |
14: 64,266,169 (GRCm39) |
N585S |
probably benign |
Het |
Rrp12 |
A |
G |
19: 41,878,582 (GRCm39) |
S188P |
probably damaging |
Het |
Rsbn1l |
T |
A |
5: 21,101,482 (GRCm39) |
H686L |
probably benign |
Het |
Runx2 |
C |
T |
17: 45,046,203 (GRCm39) |
V107I |
possibly damaging |
Het |
Rusc2 |
A |
G |
4: 43,422,846 (GRCm39) |
I994M |
probably benign |
Het |
Ryr1 |
T |
A |
7: 28,808,812 (GRCm39) |
D420V |
probably benign |
Het |
Sash1 |
T |
C |
10: 8,605,612 (GRCm39) |
Q926R |
probably benign |
Het |
Scgb3a2 |
T |
A |
18: 43,897,499 (GRCm39) |
I6N |
probably damaging |
Het |
Sdc3 |
T |
A |
4: 130,544,233 (GRCm39) |
|
probably benign |
Het |
Sik2 |
A |
G |
9: 50,808,755 (GRCm39) |
V658A |
probably benign |
Het |
Slc25a39 |
A |
G |
11: 102,296,601 (GRCm39) |
V81A |
probably damaging |
Het |
Snai2 |
T |
A |
16: 14,526,113 (GRCm39) |
S255T |
possibly damaging |
Het |
Sorbs1 |
A |
T |
19: 40,316,060 (GRCm39) |
Y371* |
probably null |
Het |
Spata31d1b |
A |
T |
13: 59,863,236 (GRCm39) |
H128L |
probably benign |
Het |
Spdl1 |
A |
T |
11: 34,721,706 (GRCm39) |
M1K |
probably null |
Het |
Tgm3 |
T |
A |
2: 129,868,697 (GRCm39) |
N211K |
probably benign |
Het |
Tmem116 |
T |
C |
5: 121,606,050 (GRCm39) |
|
probably null |
Het |
Tmem132e |
T |
A |
11: 82,329,212 (GRCm39) |
|
probably null |
Het |
Tmem53 |
T |
C |
4: 117,125,705 (GRCm39) |
C251R |
probably damaging |
Het |
Trcg1 |
A |
C |
9: 57,152,856 (GRCm39) |
D551A |
probably damaging |
Het |
Trp63 |
T |
A |
16: 25,620,843 (GRCm39) |
F12I |
probably benign |
Het |
Ttn |
C |
T |
2: 76,709,401 (GRCm39) |
|
probably null |
Het |
Tubgcp4 |
T |
C |
2: 121,025,946 (GRCm39) |
V596A |
probably benign |
Het |
Ugt2a3 |
A |
C |
5: 87,473,491 (GRCm39) |
H475Q |
probably damaging |
Het |
Unc79 |
G |
A |
12: 103,025,759 (GRCm39) |
R382K |
probably damaging |
Het |
Vmn2r58 |
T |
C |
7: 41,513,662 (GRCm39) |
H327R |
possibly damaging |
Het |
Vmn2r7 |
G |
A |
3: 64,623,987 (GRCm39) |
T111I |
possibly damaging |
Het |
Zfp318 |
T |
A |
17: 46,708,138 (GRCm39) |
Y399N |
probably damaging |
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 |
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'- AAGCCCTTACCTCTGACTGTG -3'
(R):5'- TCTTGTCCCCGTTTCAGGAG -3'
Sequencing Primer
(F):5'- GACTGTGCCTTCTCTCAGG -3'
(R):5'- CCGTTTCAGGAGGAGGTGAC -3'
|
Posted On |
2019-05-13 |