Incidental Mutation 'R2567:Cacna1a'
ID |
254557 |
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 |
040426-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.924)
|
Stock # |
R2567 (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 85276354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 613
(M613K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112436
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121390]
[ENSMUST00000122053]
|
AlphaFold |
P97445 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121390
AA Change: M613K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112436 Gene: ENSMUSG00000034656 AA Change: M613K
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: M566K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114055 Gene: ENSMUSG00000034656 AA Change: M566K
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: ENSMUST00000129620
|
Predicted Effect |
unknown
Transcript: ENSMUST00000215756
AA Change: M565K
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
A |
G |
3: 59,836,475 (GRCm39) |
|
probably benign |
Het |
Aebp1 |
A |
G |
11: 5,820,251 (GRCm39) |
D409G |
probably benign |
Het |
Akap10 |
A |
G |
11: 61,784,175 (GRCm39) |
|
probably benign |
Het |
Akap6 |
G |
T |
12: 52,985,156 (GRCm39) |
S863I |
probably damaging |
Het |
Ap1s3 |
T |
C |
1: 79,602,921 (GRCm39) |
K29E |
possibly damaging |
Het |
Atm |
T |
A |
9: 53,368,770 (GRCm39) |
I2341L |
possibly damaging |
Het |
Atp12a |
A |
T |
14: 56,624,384 (GRCm39) |
D944V |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,744,255 (GRCm39) |
S1417T |
possibly damaging |
Het |
Ccdc191 |
A |
C |
16: 43,764,330 (GRCm39) |
|
probably null |
Het |
Cd209d |
T |
A |
8: 3,926,327 (GRCm39) |
N96I |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cdk4 |
T |
G |
10: 126,900,145 (GRCm39) |
V14G |
probably benign |
Het |
Chrna10 |
C |
A |
7: 101,761,276 (GRCm39) |
M438I |
probably benign |
Het |
Clec10a |
T |
C |
11: 70,060,358 (GRCm39) |
|
probably null |
Het |
Cog3 |
A |
G |
14: 75,991,730 (GRCm39) |
V40A |
probably benign |
Het |
Creb3l3 |
T |
C |
10: 80,921,883 (GRCm39) |
H315R |
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
G |
2: 13,283,167 (GRCm39) |
|
probably null |
Het |
Cygb |
T |
C |
11: 116,540,692 (GRCm39) |
D98G |
probably damaging |
Het |
Dmbx1 |
T |
C |
4: 115,777,489 (GRCm39) |
K120E |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,551,920 (GRCm39) |
I2800F |
possibly damaging |
Het |
Dntt |
G |
T |
19: 41,029,775 (GRCm39) |
R245L |
possibly damaging |
Het |
Dock1 |
T |
G |
7: 134,747,213 (GRCm39) |
V1508G |
probably damaging |
Het |
Enpp4 |
A |
C |
17: 44,412,736 (GRCm39) |
I266R |
probably damaging |
Het |
Fhl4 |
T |
C |
10: 84,934,644 (GRCm39) |
I46V |
possibly damaging |
Het |
Fn1 |
G |
A |
1: 71,636,895 (GRCm39) |
Q1995* |
probably null |
Het |
Foxl3 |
A |
G |
5: 138,805,940 (GRCm39) |
S36G |
probably null |
Het |
Foxo1 |
T |
A |
3: 52,176,755 (GRCm39) |
L178H |
probably damaging |
Het |
Galnt18 |
C |
T |
7: 111,153,823 (GRCm39) |
R267H |
probably damaging |
Het |
Gm1110 |
T |
C |
9: 26,831,992 (GRCm39) |
D53G |
probably benign |
Het |
Gm7104 |
A |
T |
12: 88,252,242 (GRCm39) |
|
noncoding transcript |
Het |
H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
Haus6 |
C |
A |
4: 86,504,122 (GRCm39) |
E501* |
probably null |
Het |
Ifna5 |
T |
C |
4: 88,754,147 (GRCm39) |
V129A |
probably benign |
Het |
Kdelr3 |
A |
G |
15: 79,407,032 (GRCm39) |
I38V |
probably benign |
Het |
Lamb1 |
A |
G |
12: 31,319,054 (GRCm39) |
|
probably null |
Het |
Larp7-ps |
T |
C |
4: 92,079,560 (GRCm39) |
E87G |
probably benign |
Het |
Mgat4c |
T |
A |
10: 102,214,123 (GRCm39) |
F35L |
probably benign |
Het |
Mmab |
A |
T |
5: 114,571,378 (GRCm39) |
M166K |
probably benign |
Het |
Mrpl2 |
A |
G |
17: 46,958,427 (GRCm39) |
T70A |
probably benign |
Het |
Naa11 |
C |
T |
5: 97,539,618 (GRCm39) |
G180D |
probably benign |
Het |
Npy6r |
T |
C |
18: 44,408,888 (GRCm39) |
V103A |
possibly damaging |
Het |
Nup188 |
A |
T |
2: 30,231,794 (GRCm39) |
R1463W |
possibly damaging |
Het |
Nusap1 |
T |
A |
2: 119,474,311 (GRCm39) |
S336R |
possibly damaging |
Het |
Or8b12c |
T |
A |
9: 37,715,509 (GRCm39) |
F101I |
probably damaging |
Het |
Pabpc4 |
T |
A |
4: 123,191,744 (GRCm39) |
L589Q |
probably damaging |
Het |
Pcdh12 |
T |
A |
18: 38,415,149 (GRCm39) |
N659Y |
probably damaging |
Het |
Perm1 |
T |
C |
4: 156,301,575 (GRCm39) |
S40P |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,637,322 (GRCm39) |
T114A |
probably damaging |
Het |
Pirt |
C |
T |
11: 66,816,985 (GRCm39) |
L99F |
probably damaging |
Het |
Plxdc2 |
A |
G |
2: 16,716,995 (GRCm39) |
R360G |
probably benign |
Het |
Rhpn2 |
G |
A |
7: 35,080,957 (GRCm39) |
|
probably null |
Het |
Rpusd2 |
T |
A |
2: 118,867,556 (GRCm39) |
I268N |
probably damaging |
Het |
Sds |
G |
T |
5: 120,619,646 (GRCm39) |
W185L |
probably damaging |
Het |
Serpinb5 |
A |
G |
1: 106,802,876 (GRCm39) |
K137R |
probably benign |
Het |
Sh3pxd2a |
A |
G |
19: 47,413,008 (GRCm39) |
V25A |
possibly damaging |
Het |
Slc1a2 |
C |
T |
2: 102,597,355 (GRCm39) |
T454I |
probably damaging |
Het |
Slc25a40 |
T |
C |
5: 8,480,459 (GRCm39) |
C70R |
probably damaging |
Het |
Smoc1 |
G |
A |
12: 81,214,364 (GRCm39) |
E260K |
probably damaging |
Het |
Sparcl1 |
A |
T |
5: 104,232,954 (GRCm39) |
F616I |
probably damaging |
Het |
Ssc5d |
A |
T |
7: 4,939,334 (GRCm39) |
D590V |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,777,008 (GRCm39) |
V430M |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,574,672 (GRCm39) |
D25407G |
probably damaging |
Het |
Vmn2r68 |
T |
C |
7: 84,883,803 (GRCm39) |
I101V |
probably benign |
Het |
Xrcc4 |
A |
T |
13: 90,210,261 (GRCm39) |
M61K |
probably damaging |
Het |
Zfp648 |
A |
G |
1: 154,080,695 (GRCm39) |
T285A |
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 |
|
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'- CCTTTGGAATCAGTGTGTTACG -3'
(R):5'- GAGTGTAGTTGTGCAGTGCA -3'
Sequencing Primer
(F):5'- AATCAGTGTGTTACGAGCTCTCAG -3'
(R):5'- CATGTCTGTGTGTCTGTACATGTAC -3'
|
Posted On |
2014-12-04 |