Incidental Mutation 'R8856:Cacna1a'
| ID |
675342 |
| 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 |
068737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
R8856 (G1)
|
| Quality Score |
135.008 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85065268-85366875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85286070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 905
(A905V)
|
| 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: A905V
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112436
Gene: ENSMUSG00000034656
AA Change: A905V
| 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: A858V
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114055
Gene: ENSMUSG00000034656
AA Change: A858V
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
A |
6: 121,618,349 (GRCm39) |
R214H |
probably benign |
Het |
| Abca4 |
A |
G |
3: 121,906,096 (GRCm39) |
S822G |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,707,621 (GRCm39) |
I1262F |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,632,088 (GRCm39) |
D482G |
probably damaging |
Het |
| Asph |
T |
A |
4: 9,630,947 (GRCm39) |
T134S |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,569,530 (GRCm39) |
R798H |
probably benign |
Het |
| Cpne8 |
G |
T |
15: 90,486,044 (GRCm39) |
Q140K |
probably benign |
Het |
| Crocc2 |
A |
T |
1: 93,120,847 (GRCm39) |
N538I |
probably benign |
Het |
| Cyp2j9 |
T |
A |
4: 96,462,184 (GRCm39) |
I366F |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,410,064 (GRCm39) |
D1769E |
probably damaging |
Het |
| Def6 |
A |
T |
17: 28,435,972 (GRCm39) |
I44F |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,462,422 (GRCm39) |
T3723M |
probably damaging |
Het |
| Ecd |
T |
A |
14: 20,387,140 (GRCm39) |
Y198F |
probably damaging |
Het |
| Ecel1 |
A |
C |
1: 87,079,760 (GRCm39) |
M451R |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,831,506 (GRCm39) |
D199G |
probably benign |
Het |
| Efna5 |
A |
T |
17: 62,914,374 (GRCm39) |
I217N |
unknown |
Het |
| F13a1 |
A |
T |
13: 37,100,859 (GRCm39) |
D428E |
probably damaging |
Het |
| Fads1 |
T |
G |
19: 10,170,276 (GRCm39) |
I272S |
probably benign |
Het |
| Fam149a |
C |
T |
8: 45,834,611 (GRCm39) |
A63T |
|
Het |
| Fam83a |
A |
T |
15: 57,872,977 (GRCm39) |
N269Y |
probably damaging |
Het |
| Fasn |
G |
A |
11: 120,708,979 (GRCm39) |
T568I |
possibly damaging |
Het |
| Fbn1 |
A |
G |
2: 125,156,637 (GRCm39) |
S2363P |
probably damaging |
Het |
| Fbxl4 |
T |
A |
4: 22,390,803 (GRCm39) |
W329R |
probably damaging |
Het |
| Fgf12 |
A |
T |
16: 28,008,233 (GRCm39) |
V189E |
probably damaging |
Het |
| Frmd4b |
A |
T |
6: 97,269,359 (GRCm39) |
Y984* |
probably null |
Het |
| Galm |
A |
G |
17: 80,490,661 (GRCm39) |
T273A |
possibly damaging |
Het |
| Gm43302 |
A |
G |
5: 105,438,739 (GRCm39) |
S50P |
probably damaging |
Het |
| Gm45861 |
C |
T |
8: 28,010,788 (GRCm39) |
S561L |
unknown |
Het |
| Gnao1 |
A |
G |
8: 94,538,045 (GRCm39) |
I28V |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,385,779 (GRCm39) |
N967S |
probably damaging |
Het |
| Gpr155 |
A |
T |
2: 73,203,993 (GRCm39) |
F274I |
probably benign |
Het |
| Grm1 |
A |
C |
10: 10,595,092 (GRCm39) |
N845K |
probably damaging |
Het |
| Hnrnpa2b1 |
A |
T |
6: 51,443,120 (GRCm39) |
|
probably null |
Het |
| Hsf4 |
G |
T |
8: 105,996,628 (GRCm39) |
D18Y |
probably null |
Het |
| Htt |
T |
A |
5: 35,060,675 (GRCm39) |
D2774E |
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,028,621 (GRCm39) |
I679T |
probably benign |
Het |
| Irf4 |
T |
C |
13: 30,945,414 (GRCm39) |
F387L |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,720,962 (GRCm39) |
Y342C |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,282,299 (GRCm39) |
W133R |
possibly damaging |
Het |
| Ldhc |
A |
T |
7: 46,525,999 (GRCm39) |
H271L |
probably benign |
Het |
| Lmtk2 |
C |
A |
5: 144,113,079 (GRCm39) |
D1266E |
probably damaging |
Het |
| Lrrtm1 |
C |
A |
6: 77,221,807 (GRCm39) |
N421K |
possibly damaging |
Het |
| Ly9 |
G |
A |
1: 171,432,587 (GRCm39) |
T142I |
probably benign |
Het |
| Manba |
A |
G |
3: 135,223,764 (GRCm39) |
Y217C |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,845,109 (GRCm39) |
L330P |
probably damaging |
Het |
| Marchf2 |
A |
T |
17: 33,915,165 (GRCm39) |
V143E |
probably benign |
Het |
| Mmel1 |
A |
T |
4: 154,969,478 (GRCm39) |
D191V |
possibly damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,583 (GRCm39) |
I32N |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,960,510 (GRCm39) |
Q748* |
probably null |
Het |
| Mrpl34 |
T |
G |
8: 71,918,024 (GRCm39) |
W66G |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,931,865 (GRCm39) |
T774A |
unknown |
Het |
| Nde1 |
T |
A |
16: 14,001,446 (GRCm39) |
S165T |
|
Het |
| Nek10 |
T |
G |
14: 14,937,610 (GRCm38) |
I776M |
probably damaging |
Het |
| Nell2 |
A |
G |
15: 95,281,552 (GRCm39) |
S385P |
probably damaging |
Het |
| Nsf |
A |
T |
11: 103,821,568 (GRCm39) |
F29Y |
possibly damaging |
Het |
| Nsmaf |
A |
T |
4: 6,433,320 (GRCm39) |
Y133* |
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,091 (GRCm39) |
S275T |
possibly damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,776 (GRCm39) |
I485V |
probably benign |
Het |
| Poteg |
T |
A |
8: 27,938,033 (GRCm39) |
M1K |
probably null |
Het |
| Pramel24 |
A |
T |
4: 143,453,303 (GRCm39) |
N137I |
probably benign |
Het |
| Prdm5 |
G |
A |
6: 65,860,569 (GRCm39) |
V418I |
possibly damaging |
Het |
| Psmc6 |
T |
A |
14: 45,578,320 (GRCm39) |
C228S |
probably damaging |
Het |
| Ptgfrn |
C |
T |
3: 100,963,927 (GRCm39) |
A562T |
possibly damaging |
Het |
| Ralgapa2 |
G |
T |
2: 146,184,139 (GRCm39) |
Q1576K |
probably benign |
Het |
| Ranbp9 |
C |
T |
13: 43,567,506 (GRCm39) |
G400D |
probably damaging |
Het |
| Rgs11 |
A |
T |
17: 26,423,484 (GRCm39) |
I134F |
probably damaging |
Het |
| Rnf150 |
T |
A |
8: 83,762,715 (GRCm39) |
C317S |
probably damaging |
Het |
| Rrm2b |
G |
A |
15: 37,960,858 (GRCm39) |
|
probably benign |
Het |
| Scai |
T |
C |
2: 38,996,978 (GRCm39) |
Q272R |
probably benign |
Het |
| Sec62 |
C |
T |
3: 30,847,506 (GRCm39) |
R4C |
possibly damaging |
Het |
| Sgo2b |
C |
A |
8: 64,393,091 (GRCm39) |
L115F |
probably null |
Het |
| Slc44a3 |
G |
A |
3: 121,307,456 (GRCm39) |
P177S |
probably damaging |
Het |
| Slc45a4 |
G |
A |
15: 73,457,966 (GRCm39) |
L528F |
probably damaging |
Het |
| Slco1a1 |
G |
T |
6: 141,857,624 (GRCm39) |
A569D |
probably damaging |
Het |
| Stam2 |
G |
T |
2: 52,604,984 (GRCm39) |
Q184K |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,641,166 (GRCm39) |
L79Q |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tecta |
A |
T |
9: 42,284,597 (GRCm39) |
D829E |
probably benign |
Het |
| Tepsin |
A |
G |
11: 119,982,654 (GRCm39) |
V472A |
probably benign |
Het |
| Tnfrsf1a |
G |
A |
6: 125,334,688 (GRCm39) |
M109I |
possibly damaging |
Het |
| Trim42 |
A |
T |
9: 97,245,275 (GRCm39) |
Y508* |
probably null |
Het |
| Trmo |
T |
G |
4: 46,387,625 (GRCm39) |
N65T |
probably benign |
Het |
| Tspear |
G |
T |
10: 77,665,471 (GRCm39) |
E86* |
probably null |
Het |
| Ubr1 |
A |
T |
2: 120,734,523 (GRCm39) |
S1126T |
probably damaging |
Het |
| Usp50 |
C |
A |
2: 126,622,477 (GRCm39) |
D28Y |
probably damaging |
Het |
| Utp6 |
T |
A |
11: 79,842,455 (GRCm39) |
I225F |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,543,351 (GRCm39) |
T1766A |
probably benign |
Het |
| Vcl |
T |
A |
14: 21,045,160 (GRCm39) |
N288K |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,061,663 (GRCm39) |
N104D |
probably benign |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,455,484 (GRCm39) |
S1159R |
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 |
|
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 |
|
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'- TGAAGACTCACTTGGACCGG -3'
(R):5'- ACTCACTTTCTGCGTCGGTG -3'
Sequencing Primer
(F):5'- CAACAAGAGCCGTGCGC -3'
(R):5'- GGTGTCTGCGCTCCCTGTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation