Incidental Mutation 'R5644:Cacna1a'
| ID |
440972 |
| 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 |
043292-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R5644 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85065268-85366875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85189406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 119
(Y119C)
|
| 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: Y166C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112436
Gene: ENSMUSG00000034656
AA Change: Y166C
| 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: Y119C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114055
Gene: ENSMUSG00000034656
AA Change: Y119C
| 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: ENSMUST00000135382
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000215756
AA Change: Y119C
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
T |
10: 14,308,678 (GRCm39) |
D805E |
probably damaging |
Het |
| Adrb2 |
A |
T |
18: 62,311,753 (GRCm39) |
N357K |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,988,021 (GRCm39) |
K3102E |
possibly damaging |
Het |
| Alkal2 |
T |
A |
12: 30,934,889 (GRCm39) |
L36Q |
probably damaging |
Het |
| Alkbh8 |
G |
T |
9: 3,385,384 (GRCm39) |
V559F |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,365,259 (GRCm39) |
T346A |
probably benign |
Het |
| Arhgap10 |
C |
T |
8: 78,137,684 (GRCm39) |
M302I |
probably benign |
Het |
| Asah1 |
G |
T |
8: 41,813,332 (GRCm39) |
T27K |
possibly damaging |
Het |
| Bag2 |
A |
G |
1: 33,786,034 (GRCm39) |
V96A |
probably damaging |
Het |
| Bicd1 |
C |
T |
6: 149,421,901 (GRCm39) |
A874V |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,961,391 (GRCm39) |
I189M |
probably benign |
Het |
| Calcr |
A |
G |
6: 3,708,538 (GRCm39) |
I216T |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,607,757 (GRCm39) |
N302S |
probably benign |
Het |
| Ccdc93 |
A |
G |
1: 121,411,065 (GRCm39) |
H446R |
probably benign |
Het |
| Cct6b |
A |
T |
11: 82,613,281 (GRCm39) |
L420Q |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,638,392 (GRCm39) |
T273A |
probably benign |
Het |
| Cep128 |
A |
T |
12: 91,315,625 (GRCm39) |
I87K |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,860,532 (GRCm39) |
L698P |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,784,114 (GRCm39) |
N473I |
possibly damaging |
Het |
| Clec12b |
T |
A |
6: 129,356,923 (GRCm39) |
I172L |
probably benign |
Het |
| Cntnap5b |
A |
C |
1: 100,311,326 (GRCm39) |
E606D |
probably benign |
Het |
| Cyp2c67 |
A |
C |
19: 39,604,138 (GRCm39) |
V406G |
possibly damaging |
Het |
| Dhx57 |
T |
C |
17: 80,546,302 (GRCm39) |
I1308V |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,580,138 (GRCm39) |
M1599K |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,462,001 (GRCm39) |
D133E |
probably benign |
Het |
| Dpp8 |
G |
A |
9: 64,953,017 (GRCm39) |
W231* |
probably null |
Het |
| Dvl3 |
T |
A |
16: 20,345,026 (GRCm39) |
I353N |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,969,912 (GRCm39) |
I1187N |
possibly damaging |
Het |
| Fn1 |
A |
T |
1: 71,666,409 (GRCm39) |
Y875N |
probably damaging |
Het |
| Gaa |
T |
A |
11: 119,171,361 (GRCm39) |
M671K |
possibly damaging |
Het |
| Gm11939 |
T |
C |
11: 99,450,138 (GRCm39) |
D52G |
probably damaging |
Het |
| Gm14403 |
A |
T |
2: 177,199,054 (GRCm39) |
H50L |
possibly damaging |
Het |
| Gpam |
A |
T |
19: 55,077,331 (GRCm39) |
D153E |
probably benign |
Het |
| Gzma |
T |
C |
13: 113,234,794 (GRCm39) |
T66A |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,904,251 (GRCm39) |
W137R |
probably damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,783,517 (GRCm39) |
V297D |
probably damaging |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,680 (GRCm39) |
S107T |
possibly damaging |
Het |
| Kif12 |
T |
A |
4: 63,084,130 (GRCm39) |
Q624L |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,322,939 (GRCm39) |
D660G |
probably damaging |
Het |
| Klf13 |
T |
C |
7: 63,541,308 (GRCm39) |
|
probably benign |
Het |
| Klhl41 |
A |
G |
2: 69,500,815 (GRCm39) |
Y92C |
probably damaging |
Het |
| Klrc2 |
A |
T |
6: 129,633,420 (GRCm39) |
C186S |
probably damaging |
Het |
| Lao1 |
T |
A |
4: 118,822,433 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
A |
G |
14: 102,166,772 (GRCm39) |
|
probably benign |
Het |
| Lyst |
A |
T |
13: 13,812,081 (GRCm39) |
Q831L |
possibly damaging |
Het |
| Lzts1 |
A |
G |
8: 69,591,729 (GRCm39) |
S140P |
possibly damaging |
Het |
| Man2b1 |
T |
A |
8: 85,820,839 (GRCm39) |
I679N |
possibly damaging |
Het |
| Mgat5b |
T |
A |
11: 116,864,226 (GRCm39) |
V464E |
probably damaging |
Het |
| Mrgprb5 |
G |
A |
7: 47,817,955 (GRCm39) |
T260I |
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,156,477 (GRCm39) |
T825A |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,524,770 (GRCm39) |
K597I |
probably damaging |
Het |
| Naalad2 |
G |
T |
9: 18,246,227 (GRCm39) |
N568K |
possibly damaging |
Het |
| Neurl1a |
A |
G |
19: 47,167,916 (GRCm39) |
N4S |
probably benign |
Het |
| Nfx1 |
T |
C |
4: 40,984,973 (GRCm39) |
W366R |
probably null |
Het |
| Nipbl |
C |
T |
15: 8,388,391 (GRCm39) |
V410I |
probably benign |
Het |
| Nlrp9a |
A |
T |
7: 26,257,993 (GRCm39) |
H537L |
possibly damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,304,050 (GRCm39) |
N46D |
probably benign |
Het |
| Or14j10 |
T |
A |
17: 37,935,323 (GRCm39) |
I68F |
probably benign |
Het |
| Or4c101 |
T |
A |
2: 88,389,849 (GRCm39) |
M1K |
probably null |
Het |
| Or4f60 |
A |
T |
2: 111,902,013 (GRCm39) |
M305K |
probably benign |
Het |
| Or5ae1 |
C |
A |
7: 84,565,327 (GRCm39) |
F113L |
probably benign |
Het |
| Or5b95 |
A |
T |
19: 12,658,336 (GRCm39) |
Y288F |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,011 (GRCm39) |
Y255* |
probably null |
Het |
| Or5p60 |
A |
G |
7: 107,723,858 (GRCm39) |
F204S |
probably benign |
Het |
| Or6c2 |
A |
T |
10: 129,362,972 (GRCm39) |
N292I |
probably damaging |
Het |
| Or6c76b |
T |
A |
10: 129,693,296 (GRCm39) |
V303E |
probably benign |
Het |
| Or8u10 |
T |
C |
2: 85,915,503 (GRCm39) |
N206S |
probably damaging |
Het |
| P2ry12 |
A |
T |
3: 59,125,516 (GRCm39) |
M53K |
possibly damaging |
Het |
| Pcca |
G |
A |
14: 123,124,481 (GRCm39) |
C684Y |
probably damaging |
Het |
| Pdzd7 |
A |
G |
19: 45,028,619 (GRCm39) |
S175P |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,607,322 (GRCm39) |
C291R |
probably damaging |
Het |
| Plekhg5 |
T |
C |
4: 152,188,797 (GRCm39) |
V200A |
probably benign |
Het |
| Pola2 |
A |
G |
19: 6,011,198 (GRCm39) |
V42A |
probably benign |
Het |
| Pramel16 |
C |
T |
4: 143,675,374 (GRCm39) |
G484D |
probably benign |
Het |
| Prkcd |
C |
A |
14: 30,329,370 (GRCm39) |
K23N |
probably benign |
Het |
| Ptdss1 |
T |
C |
13: 67,120,604 (GRCm39) |
F267L |
probably damaging |
Het |
| Rad54l |
C |
T |
4: 115,956,144 (GRCm39) |
S561N |
probably benign |
Het |
| Rai14 |
T |
A |
15: 10,593,137 (GRCm39) |
H169L |
probably benign |
Het |
| Rfc3 |
C |
T |
5: 151,573,444 (GRCm39) |
V40I |
probably benign |
Het |
| Rpl31 |
C |
T |
1: 39,409,108 (GRCm39) |
R41C |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,558,013 (GRCm39) |
M1275I |
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,610,468 (GRCm39) |
E4119D |
probably damaging |
Het |
| Senp7 |
T |
C |
16: 56,004,512 (GRCm39) |
|
silent |
Het |
| Sfmbt2 |
A |
T |
2: 10,573,184 (GRCm39) |
I571F |
probably damaging |
Het |
| Sit1 |
T |
A |
4: 43,483,562 (GRCm39) |
T8S |
probably benign |
Het |
| Slc22a30 |
T |
C |
19: 8,381,980 (GRCm39) |
H97R |
possibly damaging |
Het |
| Slco1a5 |
A |
C |
6: 142,183,320 (GRCm39) |
|
probably null |
Het |
| Smc6 |
T |
A |
12: 11,339,995 (GRCm39) |
N434K |
probably benign |
Het |
| Snap91 |
G |
T |
9: 86,672,206 (GRCm39) |
|
probably null |
Het |
| Srsf10 |
T |
C |
4: 135,591,131 (GRCm39) |
S194P |
possibly damaging |
Het |
| St14 |
T |
C |
9: 31,017,806 (GRCm39) |
M205V |
probably benign |
Het |
| Syndig1 |
A |
T |
2: 149,741,428 (GRCm39) |
I5F |
possibly damaging |
Het |
| Tbrg1 |
T |
C |
9: 37,560,709 (GRCm39) |
D389G |
probably benign |
Het |
| Tcaf2 |
G |
A |
6: 42,619,707 (GRCm39) |
R107C |
possibly damaging |
Het |
| Tpmt |
T |
A |
13: 47,182,435 (GRCm39) |
D163V |
probably benign |
Het |
| Trim15 |
T |
C |
17: 37,177,713 (GRCm39) |
E94G |
probably damaging |
Het |
| Trit1 |
T |
C |
4: 122,942,965 (GRCm39) |
I279T |
probably damaging |
Het |
| Trpm8 |
T |
A |
1: 88,287,461 (GRCm39) |
F815I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,768,867 (GRCm39) |
T2856S |
probably damaging |
Het |
| Ugdh |
A |
T |
5: 65,574,204 (GRCm39) |
D446E |
probably benign |
Het |
| Unc5c |
C |
T |
3: 141,383,886 (GRCm39) |
A88V |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,847,354 (GRCm39) |
N44S |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,831,977 (GRCm39) |
M271L |
probably benign |
Het |
| Wdr74 |
T |
A |
19: 8,715,240 (GRCm39) |
V133E |
probably damaging |
Het |
| Zfp607b |
T |
C |
7: 27,403,194 (GRCm39) |
L550P |
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 |
|
|
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 |
|
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'- GACTAGGCCCATTGGAAAGG -3'
(R):5'- TCTCTGCTATGAAGGGTGAAGAC -3'
Sequencing Primer
(F):5'- GGGAGATGGGCACACATCTAC -3'
(R):5'- TAGGTAGGAGACAGAGTGTGCTAAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation