Incidental Mutation 'R9310:Cacna1a'
| ID |
705476 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
R9310 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85065268-85366875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85263046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 407
(A407E)
|
| 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: A407E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112436
Gene: ENSMUSG00000034656
AA Change: A407E
| 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: A360E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114055
Gene: ENSMUSG00000034656
AA Change: A360E
| 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: 99.6%
- 20x: 98.7%
|
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
T |
C |
8: 117,698,859 (GRCm39) |
I83V |
possibly damaging |
Het |
| Abcf1 |
G |
A |
17: 36,272,621 (GRCm39) |
A288V |
probably null |
Het |
| Acer1 |
A |
T |
17: 57,262,598 (GRCm39) |
V184D |
probably damaging |
Het |
| Apoh |
T |
C |
11: 108,298,307 (GRCm39) |
|
probably null |
Het |
| Arid1a |
T |
C |
4: 133,413,625 (GRCm39) |
Y959C |
unknown |
Het |
| Asb3 |
A |
T |
11: 30,978,962 (GRCm39) |
H84L |
probably benign |
Het |
| Atxn1 |
A |
C |
13: 45,721,494 (GRCm39) |
Y134D |
probably damaging |
Het |
| Btbd1 |
T |
C |
7: 81,478,985 (GRCm39) |
Y52C |
probably damaging |
Het |
| Cabp2 |
A |
G |
19: 4,136,464 (GRCm39) |
D170G |
probably damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,248,914 (GRCm39) |
|
probably null |
Het |
| Cc2d2a |
T |
C |
5: 43,852,488 (GRCm39) |
F404S |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,875,061 (GRCm39) |
M281T |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,798,177 (GRCm39) |
M1694K |
unknown |
Het |
| Chd6 |
G |
T |
2: 160,881,181 (GRCm39) |
T261K |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 133,956,330 (GRCm39) |
S585G |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 45,978,281 (GRCm39) |
Y312F |
probably damaging |
Het |
| Coa7 |
T |
A |
4: 108,195,510 (GRCm39) |
Y146* |
probably null |
Het |
| Col28a1 |
T |
C |
6: 8,175,414 (GRCm39) |
K145E |
unknown |
Het |
| Coq8b |
T |
A |
7: 26,941,486 (GRCm39) |
I221N |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,705,607 (GRCm39) |
L375* |
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,448,579 (GRCm39) |
F4214S |
probably damaging |
Het |
| Dnai3 |
C |
T |
3: 145,802,895 (GRCm39) |
|
probably null |
Het |
| Dock2 |
A |
G |
11: 34,244,139 (GRCm39) |
F1067S |
possibly damaging |
Het |
| Dpp6 |
G |
A |
5: 27,836,439 (GRCm39) |
A310T |
probably damaging |
Het |
| Dpp6 |
C |
A |
5: 27,930,642 (GRCm39) |
L825I |
probably benign |
Het |
| Efcab5 |
A |
G |
11: 77,004,531 (GRCm39) |
V929A |
probably benign |
Het |
| Ephx3 |
C |
G |
17: 32,408,290 (GRCm39) |
D45H |
probably benign |
Het |
| Espl1 |
G |
A |
15: 102,205,285 (GRCm39) |
|
probably null |
Het |
| Firrm |
A |
G |
1: 163,792,089 (GRCm39) |
C610R |
probably damaging |
Het |
| Gm4847 |
T |
C |
1: 166,460,281 (GRCm39) |
R402G |
probably benign |
Het |
| Grid1 |
T |
C |
14: 34,748,762 (GRCm39) |
L194S |
probably damaging |
Het |
| Heatr1 |
A |
T |
13: 12,453,491 (GRCm39) |
H2122L |
probably benign |
Het |
| Il17b |
T |
A |
18: 61,825,334 (GRCm39) |
C123* |
probably null |
Het |
| Il17rc |
T |
C |
6: 113,451,210 (GRCm39) |
L181P |
probably damaging |
Het |
| Inpp5e |
T |
A |
2: 26,287,940 (GRCm39) |
I619L |
probably benign |
Het |
| Itgax |
C |
A |
7: 127,741,432 (GRCm39) |
Y814* |
probably null |
Het |
| Marcks |
C |
T |
10: 37,012,487 (GRCm39) |
E183K |
unknown |
Het |
| Mefv |
T |
C |
16: 3,533,252 (GRCm39) |
T340A |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,950,920 (GRCm39) |
K958R |
probably benign |
Het |
| Mrtfb |
T |
A |
16: 13,218,954 (GRCm39) |
D533E |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,553,834 (GRCm39) |
L811Q |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,145,570 (GRCm39) |
Y1351C |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,153,708 (GRCm39) |
M2406V |
probably benign |
Het |
| Nebl |
T |
C |
2: 17,353,678 (GRCm39) |
T214A |
probably benign |
Het |
| Nlrx1 |
A |
T |
9: 44,164,705 (GRCm39) |
I913N |
probably damaging |
Het |
| Npr2 |
G |
T |
4: 43,632,404 (GRCm39) |
A74S |
probably benign |
Het |
| Or4c115 |
T |
A |
2: 88,928,257 (GRCm39) |
S5C |
probably damaging |
Het |
| Or6b6 |
C |
A |
7: 106,570,678 (GRCm39) |
C291F |
probably damaging |
Het |
| Or6c88 |
T |
A |
10: 129,406,687 (GRCm39) |
N54K |
probably benign |
Het |
| Pard3b |
G |
T |
1: 62,205,528 (GRCm39) |
V441F |
probably damaging |
Het |
| Pcsk1 |
G |
A |
13: 75,238,191 (GRCm39) |
R4K |
probably benign |
Het |
| Pisd |
G |
T |
5: 32,894,784 (GRCm39) |
N337K |
possibly damaging |
Het |
| Pml |
T |
C |
9: 58,156,945 (GRCm39) |
K10R |
probably benign |
Het |
| Prkci |
T |
C |
3: 31,083,664 (GRCm39) |
W132R |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,374,975 (GRCm39) |
M1225K |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,142 (GRCm39) |
D309G |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,052,051 (GRCm39) |
G743S |
probably damaging |
Het |
| Rab29 |
A |
T |
1: 131,799,860 (GRCm39) |
E145V |
probably damaging |
Het |
| Rasef |
C |
T |
4: 73,653,956 (GRCm39) |
|
probably null |
Het |
| Rcbtb1 |
T |
G |
14: 59,472,699 (GRCm39) |
I496S |
probably benign |
Het |
| Rcor1 |
T |
C |
12: 111,066,393 (GRCm39) |
Y228H |
|
Het |
| Reep5 |
C |
T |
18: 34,490,222 (GRCm39) |
V92I |
probably damaging |
Het |
| Rfx3 |
T |
C |
19: 27,827,329 (GRCm39) |
S86G |
probably benign |
Het |
| Rptn |
T |
A |
3: 93,304,384 (GRCm39) |
D572E |
probably benign |
Het |
| Rsl1 |
A |
T |
13: 67,324,510 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
T |
C |
7: 109,914,292 (GRCm39) |
E1630G |
possibly damaging |
Het |
| Sele |
G |
A |
1: 163,876,975 (GRCm39) |
V84I |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,698,756 (GRCm39) |
D31G |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,115,813 (GRCm39) |
I244V |
probably benign |
Het |
| Serpinb6e |
A |
G |
13: 34,017,204 (GRCm39) |
V272A |
probably benign |
Het |
| Serpinb9b |
A |
G |
13: 33,219,523 (GRCm39) |
D150G |
probably benign |
Het |
| Sgpp1 |
T |
C |
12: 75,769,374 (GRCm39) |
T265A |
probably benign |
Het |
| Slc9a1 |
T |
A |
4: 133,143,681 (GRCm39) |
M389K |
probably damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,204,236 (GRCm39) |
C35S |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,427,619 (GRCm39) |
V650E |
possibly damaging |
Het |
| Slit2 |
T |
C |
5: 48,349,568 (GRCm39) |
V274A |
possibly damaging |
Het |
| Snd1 |
A |
G |
6: 28,795,936 (GRCm39) |
E593G |
probably null |
Het |
| Spata2l |
C |
T |
8: 123,960,873 (GRCm39) |
V139M |
probably benign |
Het |
| Suco |
T |
C |
1: 161,684,427 (GRCm39) |
K231R |
probably damaging |
Het |
| Tenm3 |
C |
A |
8: 49,008,935 (GRCm39) |
|
probably benign |
Het |
| Tg |
T |
C |
15: 66,699,118 (GRCm39) |
S2415P |
possibly damaging |
Het |
| Traf6 |
C |
A |
2: 101,527,072 (GRCm39) |
A274D |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 9,996,239 (GRCm39) |
I447T |
possibly damaging |
Het |
| Usp32 |
G |
A |
11: 84,942,028 (GRCm39) |
L355F |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,817,927 (GRCm39) |
N152S |
possibly damaging |
Het |
| Vgf |
A |
G |
5: 137,061,110 (GRCm39) |
Q424R |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,993 (GRCm39) |
M81K |
possibly damaging |
Het |
| Washc5 |
G |
A |
15: 59,218,067 (GRCm39) |
A732V |
possibly damaging |
Het |
| Xrcc3 |
T |
G |
12: 111,771,485 (GRCm39) |
D213A |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,886,988 (GRCm39) |
T690A |
probably benign |
Het |
| Zfat |
G |
A |
15: 67,956,250 (GRCm39) |
S1212L |
probably damaging |
Het |
| Zfp623 |
C |
T |
15: 75,819,949 (GRCm39) |
L302F |
probably damaging |
Het |
| Zfp799 |
A |
C |
17: 33,039,733 (GRCm39) |
C178G |
possibly damaging |
Het |
| Zfy1 |
T |
C |
Y: 727,634 (GRCm39) |
E348G |
unknown |
Het |
| Zhx3 |
A |
G |
2: 160,621,393 (GRCm39) |
W925R |
possibly 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 |
|
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 |
|
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'- AGTCACACCTGCAAGGGAAG -3'
(R):5'- TCTGAAATCCCTTCCAGAAGC -3'
Sequencing Primer
(F):5'- CACACCTGCAAGGGAAGTTGATG -3'
(R):5'- TCCAGAAGCCCATGACTCAATTATTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation