Incidental Mutation 'R9710:Cacna1a'
| ID |
730071 |
| 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 # |
R9710 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85065268-85366875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 85320808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 1589
(V1589F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121390]
[ENSMUST00000122053]
|
| AlphaFold |
P97445 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121390
AA Change: V1589F
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112436
Gene: ENSMUSG00000034656
AA Change: V1589F
| 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: V1542F
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000114055
Gene: ENSMUSG00000034656
AA Change: V1542F
| 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: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,946,852 (GRCm39) |
S250P |
probably benign |
Het |
| Ahcyl1 |
T |
A |
3: 107,578,494 (GRCm39) |
I248F |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,482,646 (GRCm39) |
E454V |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,829,070 (GRCm39) |
T2580S |
|
Het |
| Anks1 |
G |
A |
17: 28,128,571 (GRCm39) |
G46R |
possibly damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,857,635 (GRCm39) |
E322G |
probably damaging |
Het |
| Arhgef2 |
T |
C |
3: 88,528,576 (GRCm39) |
I4T |
probably benign |
Het |
| C1qtnf4 |
T |
C |
2: 90,720,351 (GRCm39) |
I208T |
probably damaging |
Het |
| Cachd1 |
T |
A |
4: 100,832,092 (GRCm39) |
N751K |
probably benign |
Het |
| Cacnb1 |
T |
C |
11: 97,902,197 (GRCm39) |
H205R |
probably benign |
Het |
| Castor1 |
A |
G |
11: 4,169,015 (GRCm39) |
K61E |
probably benign |
Het |
| Ccdc9b |
G |
T |
2: 118,591,077 (GRCm39) |
A152E |
probably benign |
Het |
| Clvs2 |
C |
A |
10: 33,389,307 (GRCm39) |
R311L |
probably benign |
Het |
| Crim1 |
G |
T |
17: 78,610,504 (GRCm39) |
G320* |
probably null |
Het |
| Crtam |
A |
T |
9: 40,895,671 (GRCm39) |
D218E |
probably benign |
Het |
| Cwc27 |
G |
A |
13: 104,943,158 (GRCm39) |
T128I |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,349,347 (GRCm39) |
I238F |
probably benign |
Het |
| D930020B18Rik |
A |
C |
10: 121,503,563 (GRCm39) |
E246A |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,410,044 (GRCm39) |
V504E |
probably benign |
Het |
| Enpp6 |
T |
A |
8: 47,518,948 (GRCm39) |
S239T |
probably damaging |
Het |
| Eri2 |
A |
T |
7: 119,384,824 (GRCm39) |
I559N |
probably benign |
Het |
| Fbxo34 |
T |
C |
14: 47,768,724 (GRCm39) |
Y746H |
probably damaging |
Het |
| Galr1 |
A |
T |
18: 82,424,103 (GRCm39) |
L58Q |
probably damaging |
Het |
| Ghdc |
A |
G |
11: 100,658,863 (GRCm39) |
V423A |
probably benign |
Het |
| Glt28d2 |
T |
C |
3: 85,779,059 (GRCm39) |
D138G |
probably benign |
Het |
| Gm266 |
A |
T |
12: 111,451,763 (GRCm39) |
C148S |
probably benign |
Het |
| Gnas |
C |
T |
2: 174,141,132 (GRCm39) |
T493M |
unknown |
Het |
| Hivep2 |
T |
C |
10: 14,015,203 (GRCm39) |
I1790T |
probably damaging |
Het |
| Impg1 |
A |
G |
9: 80,287,276 (GRCm39) |
V390A |
probably benign |
Het |
| Isy1 |
A |
G |
6: 87,796,574 (GRCm39) |
F239L |
possibly damaging |
Het |
| Itgb5 |
A |
G |
16: 33,685,917 (GRCm39) |
T86A |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,382,481 (GRCm39) |
C1458R |
possibly damaging |
Het |
| Krt28 |
T |
C |
11: 99,255,921 (GRCm39) |
E446G |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,129,404 (GRCm39) |
Q3071L |
|
Het |
| Lasp1 |
A |
G |
11: 97,697,593 (GRCm39) |
|
probably benign |
Het |
| Lmf2 |
T |
C |
15: 89,237,419 (GRCm39) |
K348E |
probably benign |
Het |
| Lrch3 |
G |
T |
16: 32,796,108 (GRCm39) |
E331* |
probably null |
Het |
| Lzic |
T |
A |
4: 149,573,141 (GRCm39) |
F98I |
probably damaging |
Het |
| Map7d1 |
C |
A |
4: 126,127,440 (GRCm39) |
|
probably null |
Het |
| Marchf8 |
C |
T |
6: 116,378,405 (GRCm39) |
T113I |
possibly damaging |
Het |
| Mgrn1 |
A |
T |
16: 4,745,740 (GRCm39) |
K423* |
probably null |
Het |
| Muc20 |
G |
A |
16: 32,615,266 (GRCm39) |
T37I |
possibly damaging |
Het |
| Myh15 |
A |
G |
16: 48,959,044 (GRCm39) |
E972G |
probably damaging |
Het |
| Myocd |
T |
A |
11: 65,087,167 (GRCm39) |
K253N |
probably damaging |
Het |
| Myod1 |
T |
G |
7: 46,026,575 (GRCm39) |
L160R |
probably damaging |
Het |
| Nanog |
T |
C |
6: 122,684,799 (GRCm39) |
S20P |
probably benign |
Het |
| Nat8f2 |
A |
T |
6: 85,844,683 (GRCm39) |
Y226* |
probably null |
Het |
| Nsmf |
A |
G |
2: 24,949,077 (GRCm39) |
K277R |
probably null |
Het |
| Nsrp1 |
C |
T |
11: 76,967,503 (GRCm39) |
G30R |
probably damaging |
Het |
| Nsun6 |
C |
A |
2: 15,003,009 (GRCm39) |
R389L |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,943,397 (GRCm39) |
R4251C |
probably benign |
Het |
| Or10g9 |
A |
T |
9: 39,912,172 (GRCm39) |
M117K |
probably damaging |
Het |
| Or11h4 |
C |
T |
14: 50,974,199 (GRCm39) |
C140Y |
probably benign |
Het |
| Or51h1 |
A |
G |
7: 102,308,441 (GRCm39) |
T138A |
probably damaging |
Het |
| Or5w20 |
G |
A |
2: 87,726,902 (GRCm39) |
D120N |
probably damaging |
Het |
| Pgm1 |
T |
C |
4: 99,843,918 (GRCm39) |
L567P |
probably damaging |
Het |
| Polrmt |
G |
T |
10: 79,576,535 (GRCm39) |
H474N |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,664,885 (GRCm39) |
I374V |
probably benign |
Het |
| Pramel5 |
T |
A |
4: 143,999,545 (GRCm39) |
I181F |
probably benign |
Het |
| Prpf4b |
T |
A |
13: 35,083,870 (GRCm39) |
Y880N |
probably damaging |
Het |
| Ptpn3 |
G |
A |
4: 57,249,957 (GRCm39) |
Q180* |
probably null |
Het |
| Ptprc |
T |
C |
1: 138,008,627 (GRCm39) |
R687G |
probably damaging |
Het |
| Rnaseh2a |
T |
C |
8: 85,684,638 (GRCm39) |
T241A |
probably damaging |
Het |
| Rnf148 |
T |
A |
6: 23,654,802 (GRCm39) |
I65F |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,331,831 (GRCm39) |
I2348V |
|
Het |
| Rttn |
A |
G |
18: 89,035,334 (GRCm39) |
N736S |
possibly damaging |
Het |
| Ryr3 |
A |
C |
2: 112,633,534 (GRCm39) |
V2093G |
probably damaging |
Het |
| Selenof |
T |
A |
3: 144,283,370 (GRCm39) |
F33L |
probably benign |
Het |
| Sh2d3c |
C |
T |
2: 32,635,889 (GRCm39) |
R238* |
probably null |
Het |
| Slc23a4 |
T |
C |
6: 34,923,235 (GRCm39) |
K543R |
probably benign |
Het |
| Smn1 |
A |
T |
13: 100,272,210 (GRCm39) |
N278I |
possibly damaging |
Het |
| Sox7 |
G |
A |
14: 64,185,509 (GRCm39) |
A182T |
probably benign |
Het |
| Spata31e5 |
T |
A |
1: 28,817,120 (GRCm39) |
Y304F |
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,359,533 (GRCm39) |
I501N |
probably benign |
Het |
| Srf |
T |
C |
17: 46,866,271 (GRCm39) |
T162A |
probably benign |
Het |
| Srm |
C |
T |
4: 148,676,039 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
CAGCGCCTGACGGAGC |
CAGC |
7: 102,080,118 (GRCm39) |
|
probably benign |
Het |
| Taar8a |
T |
C |
10: 23,952,714 (GRCm39) |
L106P |
probably damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,798 (GRCm39) |
H358R |
possibly damaging |
Het |
| Tmem205 |
A |
G |
9: 21,837,587 (GRCm39) |
S20P |
probably damaging |
Het |
| Trav16 |
T |
A |
14: 53,980,910 (GRCm39) |
V33E |
possibly damaging |
Het |
| Trf |
T |
A |
9: 103,103,217 (GRCm39) |
I149F |
probably damaging |
Het |
| Trmt2a |
C |
T |
16: 18,070,041 (GRCm39) |
Q419* |
probably null |
Het |
| Ttc19 |
A |
G |
11: 62,203,997 (GRCm39) |
I319M |
probably benign |
Het |
| Txndc16 |
T |
C |
14: 45,400,467 (GRCm39) |
I345V |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,553,370 (GRCm39) |
I914T |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,727,957 (GRCm39) |
F107L |
possibly damaging |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,407 (GRCm39) |
F75S |
possibly damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,363,753 (GRCm39) |
M380K |
possibly damaging |
Het |
| Wdr7 |
T |
A |
18: 63,927,317 (GRCm39) |
M989K |
possibly damaging |
Het |
| Zcchc3 |
A |
G |
2: 152,256,385 (GRCm39) |
S105P |
probably benign |
Het |
| Zfp735 |
T |
A |
11: 73,601,806 (GRCm39) |
V250E |
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 |
|
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 |
|
|
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'- TCTGGGGCAAGCCATCAAAG -3'
(R):5'- CCCAGCTTTGGACATACCTC -3'
Sequencing Primer
(F):5'- AGCCATCAAAGATGAAGGTTTG -3'
(R):5'- AACCTTAAAAACTGTTTTCGTACCCC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation