Incidental Mutation 'R9087:Cacna1a'
| ID |
690692 |
| 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 |
068906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
R9087 (G1)
|
| Quality Score |
99.0078 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85065268-85366875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85365432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 2192
(A2192T)
|
| 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: A2192T
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112436
Gene: ENSMUSG00000034656
AA Change: A2192T
| 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 |
possibly damaging
Transcript: ENSMUST00000122053
AA Change: A2145T
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114055
Gene: ENSMUSG00000034656
AA Change: A2145T
| 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: 98.6%
|
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,768,169 (GRCm39) |
D180G |
probably damaging |
Het |
| Abcb6 |
A |
T |
1: 75,150,211 (GRCm39) |
I649K |
probably damaging |
Het |
| Ace |
T |
C |
11: 105,872,745 (GRCm39) |
F969S |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,536,230 (GRCm39) |
|
probably null |
Het |
| Apobec1 |
A |
T |
6: 122,558,700 (GRCm39) |
L9* |
probably null |
Het |
| Atp13a1 |
A |
G |
8: 70,256,457 (GRCm39) |
D865G |
probably damaging |
Het |
| Barhl1 |
T |
C |
2: 28,805,231 (GRCm39) |
Y154C |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,094,998 (GRCm39) |
D106G |
probably damaging |
Het |
| Cacnb1 |
T |
C |
11: 97,893,833 (GRCm39) |
N563S |
possibly damaging |
Het |
| Capn5 |
A |
T |
7: 97,775,531 (GRCm39) |
I470N |
probably damaging |
Het |
| Cd300c |
T |
C |
11: 114,850,591 (GRCm39) |
T71A |
probably damaging |
Het |
| Celf4 |
T |
A |
18: 25,637,327 (GRCm39) |
S223C |
probably damaging |
Het |
| Cftr |
A |
C |
6: 18,214,180 (GRCm39) |
I119L |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,233,711 (GRCm39) |
E459G |
possibly damaging |
Het |
| Cntn2 |
A |
G |
1: 132,453,108 (GRCm39) |
Y395H |
probably damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,899,532 (GRCm39) |
D987G |
probably damaging |
Het |
| Col5a2 |
T |
A |
1: 45,481,818 (GRCm39) |
D102V |
unknown |
Het |
| Cpeb2 |
T |
C |
5: 43,438,461 (GRCm39) |
F812L |
|
Het |
| Cpsf3 |
T |
A |
12: 21,358,995 (GRCm39) |
L565Q |
probably damaging |
Het |
| Ctnnd1 |
A |
C |
2: 84,439,922 (GRCm39) |
L796R |
probably damaging |
Het |
| Dach1 |
A |
G |
14: 98,406,267 (GRCm39) |
L160P |
probably benign |
Het |
| Dennd1a |
A |
C |
2: 37,911,366 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,546,503 (GRCm39) |
I2431T |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,815,430 (GRCm39) |
Y2887* |
probably null |
Het |
| Erich1 |
T |
C |
8: 14,083,623 (GRCm39) |
D149G |
probably damaging |
Het |
| Fut2 |
T |
C |
7: 45,300,493 (GRCm39) |
N93S |
probably damaging |
Het |
| Gba2 |
C |
T |
4: 43,568,304 (GRCm39) |
A688T |
probably benign |
Het |
| Gcm2 |
C |
G |
13: 41,263,406 (GRCm39) |
E9Q |
|
Het |
| Gfod1 |
T |
C |
13: 43,353,838 (GRCm39) |
E379G |
probably damaging |
Het |
| Gfod2 |
A |
G |
8: 106,454,851 (GRCm39) |
F10L |
probably damaging |
Het |
| Gm4871 |
T |
G |
5: 144,969,088 (GRCm39) |
H75P |
possibly damaging |
Het |
| Gtpbp3 |
T |
A |
8: 71,944,999 (GRCm39) |
V418E |
probably benign |
Het |
| Hif1a |
T |
A |
12: 73,989,099 (GRCm39) |
I688K |
probably benign |
Het |
| Ifi44 |
G |
T |
3: 151,451,517 (GRCm39) |
S196R |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,902,606 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kl |
A |
G |
5: 150,911,957 (GRCm39) |
K569E |
probably benign |
Het |
| Klkb1 |
G |
A |
8: 45,728,515 (GRCm39) |
Q415* |
probably null |
Het |
| L1td1 |
A |
G |
4: 98,624,699 (GRCm39) |
D298G |
possibly damaging |
Het |
| L2hgdh |
C |
T |
12: 69,749,131 (GRCm39) |
R252Q |
probably benign |
Het |
| Lipc |
C |
G |
9: 70,709,390 (GRCm39) |
K452N |
probably benign |
Het |
| Lrp10 |
C |
A |
14: 54,705,621 (GRCm39) |
S270R |
probably damaging |
Het |
| Ly6e |
T |
G |
15: 74,829,649 (GRCm39) |
L14R |
probably benign |
Het |
| Mast3 |
T |
C |
8: 71,242,330 (GRCm39) |
D90G |
possibly damaging |
Het |
| Mmp27 |
T |
C |
9: 7,579,858 (GRCm39) |
F444S |
probably damaging |
Het |
| Mrgpra2b |
A |
T |
7: 47,114,518 (GRCm39) |
N71K |
probably benign |
Het |
| Nbea |
C |
A |
3: 55,550,157 (GRCm39) |
|
probably null |
Het |
| Ndufb10 |
A |
G |
17: 24,943,159 (GRCm39) |
|
probably null |
Het |
| Ndufb9 |
C |
T |
15: 58,811,151 (GRCm39) |
P146S |
probably benign |
Het |
| Nhsl1 |
T |
C |
10: 18,407,030 (GRCm39) |
V1388A |
probably damaging |
Het |
| Nomo1 |
C |
A |
7: 45,732,748 (GRCm39) |
D1170E |
probably benign |
Het |
| Nop2 |
G |
T |
6: 125,114,391 (GRCm39) |
R254L |
probably benign |
Het |
| Nup160 |
A |
T |
2: 90,514,429 (GRCm39) |
T126S |
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,437,053 (GRCm39) |
D654G |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,459,345 (GRCm39) |
L245P |
probably damaging |
Het |
| Or2j6 |
A |
T |
7: 139,980,547 (GRCm39) |
C137* |
probably null |
Het |
| Or51h1 |
A |
G |
7: 102,308,964 (GRCm39) |
K312R |
probably benign |
Het |
| Or52e8b |
C |
T |
7: 104,673,910 (GRCm39) |
W92* |
probably null |
Het |
| Or5aq1b |
A |
G |
2: 86,902,299 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p68 |
A |
G |
7: 107,945,958 (GRCm39) |
S77P |
probably damaging |
Het |
| Or8b52 |
A |
G |
9: 38,576,711 (GRCm39) |
L143P |
probably damaging |
Het |
| Or8k18 |
A |
G |
2: 86,085,380 (GRCm39) |
M219T |
probably benign |
Het |
| Osbp2 |
T |
A |
11: 3,667,976 (GRCm39) |
D7V |
probably damaging |
Het |
| Osr2 |
A |
T |
15: 35,301,010 (GRCm39) |
I189F |
probably damaging |
Het |
| Pdlim5 |
A |
G |
3: 142,058,594 (GRCm39) |
V50A |
possibly damaging |
Het |
| Pik3r3 |
A |
G |
4: 116,148,931 (GRCm39) |
N334S |
probably benign |
Het |
| Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
| Ppfia4 |
A |
G |
1: 134,240,326 (GRCm39) |
I889T |
probably damaging |
Het |
| Prpf38b |
T |
C |
3: 108,811,657 (GRCm39) |
K403E |
unknown |
Het |
| Rgs20 |
T |
G |
1: 4,994,190 (GRCm39) |
E31A |
possibly damaging |
Het |
| Rpl11 |
A |
T |
4: 135,780,000 (GRCm39) |
M12K |
possibly damaging |
Het |
| Rreb1 |
C |
A |
13: 38,115,644 (GRCm39) |
T1001K |
probably benign |
Het |
| Ruvbl1 |
A |
G |
6: 88,474,355 (GRCm39) |
K453E |
probably benign |
Het |
| Sdc4 |
A |
T |
2: 164,270,959 (GRCm39) |
V100D |
probably benign |
Het |
| Simc1 |
C |
A |
13: 54,672,147 (GRCm39) |
T165K |
probably benign |
Het |
| Slc2a3 |
A |
G |
6: 122,717,408 (GRCm39) |
V16A |
probably benign |
Het |
| Smbd1 |
A |
T |
16: 32,627,130 (GRCm39) |
S53T |
possibly damaging |
Het |
| Smndc1 |
A |
T |
19: 53,372,074 (GRCm39) |
N113K |
possibly damaging |
Het |
| Tas2r139 |
T |
G |
6: 42,118,168 (GRCm39) |
F100C |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,467,106 (GRCm39) |
Y692C |
probably damaging |
Het |
| Ube2d2a |
T |
C |
18: 35,933,197 (GRCm39) |
I78T |
probably benign |
Het |
| Ugt2b37 |
C |
T |
5: 87,401,996 (GRCm39) |
V212I |
probably benign |
Het |
| Wars2 |
A |
G |
3: 99,124,063 (GRCm39) |
D308G |
possibly damaging |
Het |
| Yeats2 |
G |
A |
16: 20,030,500 (GRCm39) |
|
probably null |
Het |
| Zfp385a |
G |
T |
15: 103,224,318 (GRCm39) |
H219N |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,227,982 (GRCm39) |
T1876A |
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 |
|
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 |
|
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'- TGAGCATGACCACCCAATCG -3'
(R):5'- AGTTTCCGAAGTCACTCACAGG -3'
Sequencing Primer
(F):5'- caccatcatcatcaTCCC -3'
(R):5'- GAAGTCACTCACAGGCGTCC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation