Incidental Mutation 'R4713:Cacna1a'
| ID |
353373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1a
|
| Ensembl Gene |
ENSMUSG00000034656 |
| Gene Name |
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
| Synonyms |
Cacnl1a4, alpha1A, SCA6, nmf352, Ccha1a |
| MMRRC Submission |
041601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R4713 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84388440-84640246 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 84549514 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 532
(F532V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121390]
[ENSMUST00000122053]
|
| AlphaFold |
P97445 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121390
AA Change: F579V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112436
Gene: ENSMUSG00000034656
AA Change: F579V
| 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: F532V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114055
Gene: ENSMUSG00000034656
AA Change: F532V
| 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: F531V
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.0%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
G |
T |
1: 25,547,532 (GRCm38) |
T360K |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,597,153 (GRCm38) |
K356E |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,881,193 (GRCm38) |
V123E |
probably damaging |
Het |
| Cct8 |
C |
A |
16: 87,487,688 (GRCm38) |
E204* |
probably null |
Het |
| Cd163 |
T |
A |
6: 124,317,618 (GRCm38) |
|
probably null |
Het |
| Cep152 |
C |
A |
2: 125,587,948 (GRCm38) |
A685S |
possibly damaging |
Het |
| Chdh |
A |
G |
14: 30,036,841 (GRCm38) |
D581G |
probably benign |
Het |
| Cnpy3 |
A |
C |
17: 46,747,465 (GRCm38) |
Y77* |
probably null |
Het |
| Col5a3 |
T |
C |
9: 20,793,574 (GRCm38) |
E762G |
unknown |
Het |
| Creb3 |
A |
G |
4: 43,563,247 (GRCm38) |
T115A |
probably benign |
Het |
| Dlat |
G |
T |
9: 50,644,481 (GRCm38) |
A412E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,476,688 (GRCm38) |
N1789S |
probably damaging |
Het |
| Dzank1 |
C |
T |
2: 144,491,804 (GRCm38) |
E370K |
probably benign |
Het |
| Eif3m |
A |
T |
2: 105,006,839 (GRCm38) |
|
probably null |
Het |
| Gimap8 |
A |
T |
6: 48,658,986 (GRCm38) |
M562L |
probably benign |
Het |
| Gprc6a |
T |
A |
10: 51,631,457 (GRCm38) |
|
probably benign |
Het |
| Gsr |
T |
G |
8: 33,680,319 (GRCm38) |
|
probably null |
Het |
| Gstcd |
A |
G |
3: 132,983,099 (GRCm38) |
V630A |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 123,989,980 (GRCm38) |
I116T |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 120,131,803 (GRCm38) |
E1817G |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,663,725 (GRCm38) |
T135P |
probably damaging |
Het |
| Ism2 |
A |
G |
12: 87,285,027 (GRCm38) |
|
silent |
Het |
| Itga11 |
A |
G |
9: 62,765,788 (GRCm38) |
D784G |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,373,173 (GRCm38) |
F837S |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,396,958 (GRCm38) |
E10G |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 119,069,137 (GRCm38) |
K440* |
probably null |
Het |
| Lonp2 |
T |
C |
8: 86,713,315 (GRCm38) |
S648P |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,359,868 (GRCm38) |
S1622P |
probably benign |
Het |
| Lrp2 |
G |
T |
2: 69,487,966 (GRCm38) |
A2047D |
probably damaging |
Het |
| Mcm3 |
G |
A |
1: 20,803,577 (GRCm38) |
T773I |
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,695,469 (GRCm38) |
V2612A |
probably benign |
Het |
| Mnx1 |
C |
A |
5: 29,478,131 (GRCm38) |
G49W |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,849,079 (GRCm38) |
Y673* |
probably null |
Het |
| Myo15a |
A |
G |
11: 60,479,930 (GRCm38) |
H1172R |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,516,080 (GRCm38) |
K363R |
probably null |
Het |
| Ncoa4 |
T |
A |
14: 32,176,641 (GRCm38) |
C473S |
probably benign |
Het |
| Nefh |
T |
C |
11: 4,939,656 (GRCm38) |
T988A |
unknown |
Het |
| Nwd2 |
T |
A |
5: 63,804,460 (GRCm38) |
D462E |
probably benign |
Het |
| Or2av9 |
T |
C |
11: 58,490,087 (GRCm38) |
T223A |
probably benign |
Het |
| Pira13 |
G |
T |
7: 3,822,681 (GRCm38) |
Y396* |
probably null |
Het |
| Plec |
T |
C |
15: 76,181,067 (GRCm38) |
E1466G |
unknown |
Het |
| Prl3d2 |
G |
T |
13: 27,122,396 (GRCm38) |
M35I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,152,463 (GRCm38) |
I202F |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,225,602 (GRCm38) |
D78E |
probably benign |
Het |
| Rsph3b |
T |
C |
17: 6,905,129 (GRCm38) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,609,651 (GRCm38) |
M1717I |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,249,296 (GRCm38) |
H728L |
possibly damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,457,080 (GRCm38) |
A345S |
possibly damaging |
Het |
| Slc35d2 |
A |
G |
13: 64,099,283 (GRCm38) |
V261A |
possibly damaging |
Het |
| Slc49a3 |
T |
C |
5: 108,442,079 (GRCm38) |
T486A |
probably damaging |
Het |
| Ssmem1 |
A |
G |
6: 30,519,514 (GRCm38) |
D66G |
probably damaging |
Het |
| Sult2a8 |
A |
T |
7: 14,425,477 (GRCm38) |
N72K |
probably benign |
Het |
| Tbx10 |
T |
C |
19: 3,996,921 (GRCm38) |
L108P |
probably damaging |
Het |
| Tex14 |
T |
C |
11: 87,536,865 (GRCm38) |
S48P |
probably damaging |
Het |
| Tmie |
A |
G |
9: 110,867,528 (GRCm38) |
L95P |
probably damaging |
Het |
| Tom1l2 |
C |
G |
11: 60,270,433 (GRCm38) |
R84P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,889,435 (GRCm38) |
D543E |
possibly damaging |
Het |
| Vipr2 |
A |
C |
12: 116,080,131 (GRCm38) |
R49S |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,442,439 (GRCm38) |
S110C |
probably damaging |
Het |
| Zfp791 |
T |
A |
8: 85,110,968 (GRCm38) |
N89I |
probably damaging |
Het |
|
| Other mutations in Cacna1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Cacna1a
|
APN |
8 |
84,571,208 (GRCm38) |
nonsense |
probably null |
|
|
IGL00513:Cacna1a
|
APN |
8 |
84,553,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00569:Cacna1a
|
APN |
8 |
84,462,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00981:Cacna1a
|
APN |
8 |
84,548,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01122:Cacna1a
|
APN |
8 |
84,614,793 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01309:Cacna1a
|
APN |
8 |
84,523,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01380:Cacna1a
|
APN |
8 |
84,559,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01638:Cacna1a
|
APN |
8 |
84,571,827 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01682:Cacna1a
|
APN |
8 |
84,536,438 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL02751:Cacna1a
|
APN |
8 |
84,569,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02904:Cacna1a
|
APN |
8 |
84,579,520 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03122:Cacna1a
|
APN |
8 |
84,462,676 (GRCm38) |
splice site |
probably benign |
|
|
totter
|
UTSW |
8 |
84,588,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
totter2
|
UTSW |
8 |
84,588,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
FR4340:Cacna1a
|
UTSW |
8 |
84,638,723 (GRCm38) |
small insertion |
probably benign |
|
|
FR4449:Cacna1a
|
UTSW |
8 |
84,638,723 (GRCm38) |
small insertion |
probably benign |
|
|
FR4449:Cacna1a
|
UTSW |
8 |
84,638,720 (GRCm38) |
small insertion |
probably benign |
|
|
FR4449:Cacna1a
|
UTSW |
8 |
84,638,714 (GRCm38) |
small insertion |
probably benign |
|
|
FR4548:Cacna1a
|
UTSW |
8 |
84,638,717 (GRCm38) |
small insertion |
probably benign |
|
|
FR4737:Cacna1a
|
UTSW |
8 |
84,638,726 (GRCm38) |
small insertion |
probably benign |
|
|
FR4737:Cacna1a
|
UTSW |
8 |
84,638,720 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Cacna1a
|
UTSW |
8 |
84,638,726 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Cacna1a
|
UTSW |
8 |
84,638,717 (GRCm38) |
small insertion |
probably benign |
|
|
IGL03134:Cacna1a
|
UTSW |
8 |
84,559,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0055:Cacna1a
|
UTSW |
8 |
84,580,058 (GRCm38) |
splice site |
probably benign |
|
|
R0118:Cacna1a
|
UTSW |
8 |
84,536,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0284:Cacna1a
|
UTSW |
8 |
84,612,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0581:Cacna1a
|
UTSW |
8 |
84,601,936 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R0607:Cacna1a
|
UTSW |
8 |
84,629,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1168:Cacna1a
|
UTSW |
8 |
84,579,501 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1183:Cacna1a
|
UTSW |
8 |
84,580,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1470:Cacna1a
|
UTSW |
8 |
84,514,950 (GRCm38) |
splice site |
probably benign |
|
|
R1503:Cacna1a
|
UTSW |
8 |
84,601,946 (GRCm38) |
missense |
probably benign |
0.23 |
|
R1522:Cacna1a
|
UTSW |
8 |
84,633,433 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1835:Cacna1a
|
UTSW |
8 |
84,581,357 (GRCm38) |
splice site |
probably null |
|
|
R1862:Cacna1a
|
UTSW |
8 |
84,415,930 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R2148:Cacna1a
|
UTSW |
8 |
84,629,675 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2237:Cacna1a
|
UTSW |
8 |
84,633,765 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2567:Cacna1a
|
UTSW |
8 |
84,549,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2999:Cacna1a
|
UTSW |
8 |
84,567,742 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3025:Cacna1a
|
UTSW |
8 |
84,580,225 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3610:Cacna1a
|
UTSW |
8 |
84,559,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3702:Cacna1a
|
UTSW |
8 |
84,617,846 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3763:Cacna1a
|
UTSW |
8 |
84,583,642 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4025:Cacna1a
|
UTSW |
8 |
84,581,333 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4026:Cacna1a
|
UTSW |
8 |
84,581,333 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4106:Cacna1a
|
UTSW |
8 |
84,583,695 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4296:Cacna1a
|
UTSW |
8 |
84,559,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4664:Cacna1a
|
UTSW |
8 |
84,601,767 (GRCm38) |
nonsense |
probably null |
|
|
R5223:Cacna1a
|
UTSW |
8 |
84,587,195 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5408:Cacna1a
|
UTSW |
8 |
84,549,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5644:Cacna1a
|
UTSW |
8 |
84,462,777 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5734:Cacna1a
|
UTSW |
8 |
84,583,731 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5786:Cacna1a
|
UTSW |
8 |
84,415,721 (GRCm38) |
unclassified |
probably benign |
|
|
R5833:Cacna1a
|
UTSW |
8 |
84,518,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5886:Cacna1a
|
UTSW |
8 |
84,523,022 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6049:Cacna1a
|
UTSW |
8 |
84,638,846 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6054:Cacna1a
|
UTSW |
8 |
84,556,785 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6117:Cacna1a
|
UTSW |
8 |
84,614,721 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6149:Cacna1a
|
UTSW |
8 |
84,569,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6195:Cacna1a
|
UTSW |
8 |
84,588,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6233:Cacna1a
|
UTSW |
8 |
84,588,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6607:Cacna1a
|
UTSW |
8 |
84,579,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6753:Cacna1a
|
UTSW |
8 |
84,580,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6798:Cacna1a
|
UTSW |
8 |
84,611,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6831:Cacna1a
|
UTSW |
8 |
84,571,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6980:Cacna1a
|
UTSW |
8 |
84,612,285 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7051:Cacna1a
|
UTSW |
8 |
84,629,915 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7270:Cacna1a
|
UTSW |
8 |
84,571,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7409:Cacna1a
|
UTSW |
8 |
84,533,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7491:Cacna1a
|
UTSW |
8 |
84,559,293 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7511:Cacna1a
|
UTSW |
8 |
84,567,682 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7745:Cacna1a
|
UTSW |
8 |
84,559,394 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7872:Cacna1a
|
UTSW |
8 |
84,583,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7899:Cacna1a
|
UTSW |
8 |
84,594,173 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7986:Cacna1a
|
UTSW |
8 |
84,638,779 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8126:Cacna1a
|
UTSW |
8 |
84,633,252 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8266:Cacna1a
|
UTSW |
8 |
84,559,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8458:Cacna1a
|
UTSW |
8 |
84,549,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8504:Cacna1a
|
UTSW |
8 |
84,638,741 (GRCm38) |
missense |
probably benign |
|
|
R8530:Cacna1a
|
UTSW |
8 |
84,612,414 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8750:Cacna1a
|
UTSW |
8 |
84,559,155 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8817:Cacna1a
|
UTSW |
8 |
84,638,797 (GRCm38) |
missense |
probably benign |
0.44 |
|
R8856:Cacna1a
|
UTSW |
8 |
84,559,441 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8893:Cacna1a
|
UTSW |
8 |
84,587,135 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9083:Cacna1a
|
UTSW |
8 |
84,617,882 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9087:Cacna1a
|
UTSW |
8 |
84,638,803 (GRCm38) |
missense |
probably benign |
0.44 |
|
R9118:Cacna1a
|
UTSW |
8 |
84,536,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9133:Cacna1a
|
UTSW |
8 |
84,549,523 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9175:Cacna1a
|
UTSW |
8 |
84,570,015 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9233:Cacna1a
|
UTSW |
8 |
84,544,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9310:Cacna1a
|
UTSW |
8 |
84,536,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9331:Cacna1a
|
UTSW |
8 |
84,415,817 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9334:Cacna1a
|
UTSW |
8 |
84,569,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9531:Cacna1a
|
UTSW |
8 |
84,594,172 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9532:Cacna1a
|
UTSW |
8 |
84,611,617 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9590:Cacna1a
|
UTSW |
8 |
84,601,981 (GRCm38) |
nonsense |
probably null |
|
|
R9710:Cacna1a
|
UTSW |
8 |
84,594,179 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
RF029:Cacna1a
|
UTSW |
8 |
84,638,724 (GRCm38) |
small insertion |
probably benign |
|
|
X0022:Cacna1a
|
UTSW |
8 |
84,633,699 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
Z1176:Cacna1a
|
UTSW |
8 |
84,415,676 (GRCm38) |
missense |
unknown |
|
|
Z1177:Cacna1a
|
UTSW |
8 |
84,579,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1188:Cacna1a
|
UTSW |
8 |
84,515,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAAGCAGCCTAACTCTGAGGGG -3'
(R):5'- CAGGTTTCTGAGAGATGCCC -3'
Sequencing Primer
(F):5'- TAACTCTGAGGGGGCCTG -3'
(R):5'- CAGGTTTCTGAGAGATGCCCAGTAC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation