Incidental Mutation 'R1522:Cacna1a'
ID |
167532 |
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 |
040871-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.924)
|
Stock # |
R1522 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
85065268-85366875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 85360062 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1976
(M1976K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112436
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121390]
[ENSMUST00000122053]
|
AlphaFold |
P97445 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000121390
AA Change: M1976K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112436 Gene: ENSMUSG00000034656 AA Change: M1976K
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: M1929K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114055 Gene: ENSMUSG00000034656 AA Change: M1929K
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: ENSMUST00000144879
|
Predicted Effect |
unknown
Transcript: ENSMUST00000215756
AA Change: M1928K
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.1%
|
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: 99 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
T |
C |
6: 83,139,568 (GRCm39) |
S498P |
probably damaging |
Het |
3100002H09Rik |
A |
G |
4: 124,504,487 (GRCm39) |
W22R |
probably damaging |
Het |
AA986860 |
A |
G |
1: 130,670,831 (GRCm39) |
E351G |
probably damaging |
Het |
Acsl5 |
T |
C |
19: 55,268,924 (GRCm39) |
V195A |
probably benign |
Het |
Actmap |
A |
G |
7: 26,902,105 (GRCm39) |
H244R |
probably damaging |
Het |
Adamts10 |
A |
G |
17: 33,756,293 (GRCm39) |
D312G |
probably benign |
Het |
Adgrb1 |
A |
G |
15: 74,452,466 (GRCm39) |
M211V |
probably damaging |
Het |
Ankfy1 |
C |
T |
11: 72,646,693 (GRCm39) |
R859* |
probably null |
Het |
Atp8b1 |
T |
A |
18: 64,683,503 (GRCm39) |
I742L |
probably benign |
Het |
B3galnt2 |
T |
A |
13: 14,145,354 (GRCm39) |
V89E |
probably damaging |
Het |
Brinp3 |
A |
C |
1: 146,777,628 (GRCm39) |
T692P |
probably damaging |
Het |
C9 |
T |
A |
15: 6,516,243 (GRCm39) |
F349I |
probably damaging |
Het |
Castor2 |
T |
G |
5: 134,154,726 (GRCm39) |
S43R |
probably damaging |
Het |
Ccdc180 |
T |
C |
4: 45,927,975 (GRCm39) |
V1170A |
possibly damaging |
Het |
Celsr1 |
A |
G |
15: 85,815,477 (GRCm39) |
V1846A |
probably benign |
Het |
Ces1f |
A |
T |
8: 93,998,517 (GRCm39) |
Y160N |
possibly damaging |
Het |
Cfap45 |
A |
G |
1: 172,368,139 (GRCm39) |
E377G |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,460,932 (GRCm39) |
M240L |
probably benign |
Het |
Clnk |
G |
A |
5: 38,952,309 (GRCm39) |
T10M |
probably damaging |
Het |
Cntrl |
T |
A |
2: 35,045,291 (GRCm39) |
I781K |
possibly damaging |
Het |
Col11a2 |
G |
A |
17: 34,274,228 (GRCm39) |
G375S |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,817,193 (GRCm39) |
I373F |
unknown |
Het |
Dmxl1 |
C |
T |
18: 49,985,434 (GRCm39) |
A227V |
probably benign |
Het |
Dok5 |
A |
G |
2: 170,574,052 (GRCm39) |
N4D |
probably benign |
Het |
Dpysl3 |
A |
T |
18: 43,496,622 (GRCm39) |
V138D |
probably damaging |
Het |
Efs |
A |
T |
14: 55,157,172 (GRCm39) |
Y380N |
probably damaging |
Het |
Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,546,275 (GRCm39) |
Q855R |
possibly damaging |
Het |
Fcrl2 |
A |
C |
3: 87,164,014 (GRCm39) |
S372A |
possibly damaging |
Het |
Gadl1 |
C |
T |
9: 115,773,297 (GRCm39) |
A113V |
probably damaging |
Het |
Gda |
T |
A |
19: 21,389,903 (GRCm39) |
E219D |
probably benign |
Het |
Gli1 |
A |
T |
10: 127,168,446 (GRCm39) |
M469K |
probably damaging |
Het |
Gm4847 |
A |
T |
1: 166,469,219 (GRCm39) |
S148R |
probably damaging |
Het |
Golga2 |
T |
C |
2: 32,192,216 (GRCm39) |
V325A |
probably benign |
Het |
Hpf1 |
A |
G |
8: 61,349,783 (GRCm39) |
D137G |
probably damaging |
Het |
Htr2a |
C |
G |
14: 74,943,293 (GRCm39) |
S291* |
probably null |
Het |
Itga5 |
G |
A |
15: 103,265,209 (GRCm39) |
Q233* |
probably null |
Het |
Jazf1 |
C |
A |
6: 52,789,168 (GRCm39) |
R102L |
probably damaging |
Het |
Kif6 |
T |
G |
17: 50,021,141 (GRCm39) |
L322R |
probably damaging |
Het |
Ktn1 |
A |
C |
14: 47,904,873 (GRCm39) |
K217T |
probably damaging |
Het |
Lig4 |
A |
T |
8: 10,023,012 (GRCm39) |
V256E |
possibly damaging |
Het |
Lrp1 |
G |
T |
10: 127,403,233 (GRCm39) |
D2113E |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,411,155 (GRCm39) |
D1399E |
probably benign |
Het |
Mmel1 |
A |
G |
4: 154,979,443 (GRCm39) |
E717G |
probably damaging |
Het |
Mndal |
G |
T |
1: 173,699,032 (GRCm39) |
P155H |
possibly damaging |
Het |
Mycbpap |
A |
G |
11: 94,402,449 (GRCm39) |
|
probably null |
Het |
Nedd1 |
T |
C |
10: 92,555,476 (GRCm39) |
E3G |
probably damaging |
Het |
Nlgn1 |
A |
T |
3: 25,490,073 (GRCm39) |
N551K |
probably damaging |
Het |
Nup210 |
G |
A |
6: 91,046,148 (GRCm39) |
P595L |
possibly damaging |
Het |
Or2ag15 |
A |
G |
7: 106,340,212 (GRCm39) |
C310R |
probably benign |
Het |
Or2g25 |
A |
T |
17: 37,970,661 (GRCm39) |
C188S |
probably damaging |
Het |
Or4k52 |
A |
T |
2: 111,610,693 (GRCm39) |
|
probably null |
Het |
Or5ac17 |
T |
G |
16: 59,036,347 (GRCm39) |
T210P |
probably damaging |
Het |
Or5p56 |
A |
G |
7: 107,589,740 (GRCm39) |
H56R |
probably benign |
Het |
Pank3 |
G |
A |
11: 35,672,508 (GRCm39) |
V304M |
probably benign |
Het |
Phf3 |
G |
A |
1: 30,844,729 (GRCm39) |
T1410I |
probably benign |
Het |
Ppm1k |
A |
G |
6: 57,502,142 (GRCm39) |
I7T |
possibly damaging |
Het |
Ppp1r12c |
T |
C |
7: 4,500,424 (GRCm39) |
D73G |
probably damaging |
Het |
Prelid2 |
T |
G |
18: 42,014,332 (GRCm39) |
M165L |
probably benign |
Het |
Prkd3 |
A |
C |
17: 79,260,125 (GRCm39) |
L826R |
probably damaging |
Het |
Ptchd4 |
A |
T |
17: 42,814,433 (GRCm39) |
N778I |
probably damaging |
Het |
Ptprm |
T |
C |
17: 67,000,866 (GRCm39) |
D1063G |
possibly damaging |
Het |
Rab27a |
C |
A |
9: 72,982,764 (GRCm39) |
T23N |
probably damaging |
Het |
Rasgrf2 |
A |
T |
13: 92,044,205 (GRCm39) |
F949L |
probably benign |
Het |
Rbm33 |
A |
G |
5: 28,542,002 (GRCm39) |
N68D |
probably damaging |
Het |
Rgl1 |
A |
T |
1: 152,462,284 (GRCm39) |
L109Q |
probably damaging |
Het |
Rnf20 |
A |
G |
4: 49,638,197 (GRCm39) |
N103S |
possibly damaging |
Het |
Sbno1 |
G |
A |
5: 124,530,675 (GRCm39) |
L875F |
probably damaging |
Het |
Scube1 |
T |
A |
15: 83,512,277 (GRCm39) |
|
probably null |
Het |
Selenbp1 |
G |
A |
3: 94,844,669 (GRCm39) |
V109M |
probably damaging |
Het |
Serpina3c |
T |
A |
12: 104,117,805 (GRCm39) |
I178F |
probably damaging |
Het |
Shisa8 |
C |
T |
15: 82,092,702 (GRCm39) |
G63D |
probably damaging |
Het |
Snx14 |
T |
C |
9: 88,284,277 (GRCm39) |
R464G |
possibly damaging |
Het |
Snx25 |
A |
T |
8: 46,577,119 (GRCm39) |
M1K |
probably null |
Het |
Sorcs3 |
C |
A |
19: 48,694,448 (GRCm39) |
T574K |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,150,557 (GRCm39) |
E6528G |
probably damaging |
Het |
Syt5 |
T |
C |
7: 4,543,245 (GRCm39) |
E338G |
probably damaging |
Het |
Tbk1 |
T |
C |
10: 121,387,223 (GRCm39) |
K691E |
probably benign |
Het |
Tenm3 |
G |
A |
8: 48,848,611 (GRCm39) |
T11I |
probably damaging |
Het |
Thrb |
A |
G |
14: 18,002,597 (GRCm38) |
H87R |
probably damaging |
Het |
Tlr4 |
T |
A |
4: 66,757,933 (GRCm39) |
M242K |
possibly damaging |
Het |
Tm4sf19 |
T |
C |
16: 32,224,820 (GRCm39) |
M56T |
possibly damaging |
Het |
Tmem212 |
T |
A |
3: 27,940,620 (GRCm39) |
R66* |
probably null |
Het |
Tmem39b |
G |
T |
4: 129,578,275 (GRCm39) |
D315E |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,937,612 (GRCm39) |
F3834L |
probably damaging |
Het |
Trim36 |
A |
T |
18: 46,319,250 (GRCm39) |
L225* |
probably null |
Het |
Trim42 |
A |
T |
9: 97,247,732 (GRCm39) |
H321Q |
probably damaging |
Het |
Trio |
G |
T |
15: 27,732,726 (GRCm39) |
Q3052K |
probably benign |
Het |
Trpm3 |
T |
C |
19: 22,955,698 (GRCm39) |
I1091T |
probably benign |
Het |
Tst |
T |
C |
15: 78,284,143 (GRCm39) |
E228G |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,702,060 (GRCm39) |
|
probably benign |
Het |
Uap1 |
A |
C |
1: 169,978,510 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
C |
1: 188,530,011 (GRCm39) |
S3267P |
possibly damaging |
Het |
Usp5 |
T |
C |
6: 124,802,129 (GRCm39) |
T38A |
probably benign |
Het |
Uvssa |
A |
T |
5: 33,545,152 (GRCm39) |
Q84L |
probably damaging |
Het |
Vmn1r159 |
T |
G |
7: 22,542,693 (GRCm39) |
H113P |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,824,742 (GRCm39) |
|
probably null |
Het |
Zfp182 |
T |
A |
X: 20,897,799 (GRCm39) |
I166L |
probably benign |
Het |
Zfp811 |
A |
T |
17: 33,016,622 (GRCm39) |
Y472N |
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 |
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 |
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'- AGAGCAGACCCACCTGTGTGTAAG -3'
(R):5'- TGGGAGAACCCTTTCTGCCTGAAC -3'
Sequencing Primer
(F):5'- TACGTTCCTAAAACAAGGTCCTGG -3'
(R):5'- TTCTGCCTGAACCACCCAG -3'
|
Posted On |
2014-04-13 |