Incidental Mutation 'R1183:Cacna1a'
| ID |
101756 |
| 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 |
039255-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
R1183 (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 85306846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1367
(D1367G)
|
| 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: D1367G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112436
Gene: ENSMUSG00000034656
AA Change: D1367G
| 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: D1320G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114055
Gene: ENSMUSG00000034656
AA Change: D1320G
| 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: ENSMUST00000126302
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000215756
AA Change: D1319G
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
G |
8: 111,768,206 (GRCm39) |
Y192* |
probably null |
Het |
| Abcc6 |
T |
C |
7: 45,634,677 (GRCm39) |
Y1100C |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,974,092 (GRCm39) |
W132R |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,416 (GRCm39) |
V497E |
probably damaging |
Het |
| Adtrp |
T |
G |
13: 41,981,813 (GRCm39) |
|
probably benign |
Het |
| Alg9 |
T |
A |
9: 50,700,833 (GRCm39) |
L201Q |
possibly damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,856,121 (GRCm39) |
I84K |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,638,725 (GRCm39) |
S288P |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 36,949,452 (GRCm39) |
L366Q |
possibly damaging |
Het |
| Card19 |
C |
T |
13: 49,358,727 (GRCm39) |
R82Q |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,292,372 (GRCm39) |
I226V |
possibly damaging |
Het |
| Ces1f |
A |
C |
8: 93,994,633 (GRCm39) |
D259E |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,416,611 (GRCm39) |
M1072K |
probably benign |
Het |
| Dcpp2 |
T |
A |
17: 24,119,468 (GRCm39) |
V94D |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,337,474 (GRCm39) |
D3209G |
possibly damaging |
Het |
| Dsg1c |
A |
G |
18: 20,416,255 (GRCm39) |
T719A |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,375,716 (GRCm39) |
W1167* |
probably null |
Het |
| Eml5 |
T |
C |
12: 98,758,305 (GRCm39) |
I1874V |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,003,926 (GRCm39) |
T645A |
probably damaging |
Het |
| F2rl2 |
T |
C |
13: 95,837,621 (GRCm39) |
L222S |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,191,731 (GRCm39) |
C495S |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,163,537 (GRCm39) |
D2106E |
probably benign |
Het |
| Fgf14 |
T |
A |
14: 124,913,936 (GRCm39) |
N65I |
probably benign |
Het |
| Fip1l1 |
T |
C |
5: 74,755,763 (GRCm39) |
Y497H |
probably damaging |
Het |
| Fn1 |
A |
C |
1: 71,625,404 (GRCm39) |
D2376E |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,764,662 (GRCm39) |
T453A |
possibly damaging |
Het |
| Galnt1 |
G |
T |
18: 24,404,647 (GRCm39) |
W328L |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,372 (GRCm39) |
V97A |
possibly damaging |
Het |
| Gatad1 |
A |
G |
5: 3,693,707 (GRCm39) |
V154A |
possibly damaging |
Het |
| Gdf15 |
A |
G |
8: 71,084,202 (GRCm39) |
F21L |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,029,182 (GRCm39) |
F273S |
possibly damaging |
Het |
| Invs |
A |
T |
4: 48,421,725 (GRCm39) |
R786W |
possibly damaging |
Het |
| Itfg1 |
T |
G |
8: 86,507,152 (GRCm39) |
E236A |
probably benign |
Het |
| Jak3 |
A |
T |
8: 72,137,194 (GRCm39) |
I752F |
probably damaging |
Het |
| Kcnip3 |
C |
A |
2: 127,306,985 (GRCm39) |
G144W |
probably damaging |
Het |
| Kctd19 |
T |
C |
8: 106,109,598 (GRCm39) |
H925R |
probably benign |
Het |
| Kdr |
C |
T |
5: 76,107,511 (GRCm39) |
A1011T |
probably damaging |
Het |
| Kif13b |
C |
A |
14: 65,019,826 (GRCm39) |
H1398Q |
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,307,864 (GRCm39) |
|
probably null |
Het |
| Lrtm2 |
T |
C |
6: 119,297,846 (GRCm39) |
D65G |
probably benign |
Het |
| Lyz1 |
A |
G |
10: 117,128,715 (GRCm39) |
L10P |
probably damaging |
Het |
| Metap2 |
A |
T |
10: 93,706,046 (GRCm39) |
N245K |
probably damaging |
Het |
| Mms19 |
T |
C |
19: 41,943,270 (GRCm39) |
D297G |
possibly damaging |
Het |
| Mocs3 |
A |
G |
2: 168,073,573 (GRCm39) |
D340G |
possibly damaging |
Het |
| Mtfr1l |
A |
G |
4: 134,256,436 (GRCm39) |
L243P |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,842,897 (GRCm39) |
I105T |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,748,571 (GRCm39) |
S1967P |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,100,585 (GRCm39) |
N2248S |
possibly damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,432,008 (GRCm39) |
D35G |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,067,252 (GRCm39) |
M764K |
probably benign |
Het |
| Or10a3n |
A |
G |
7: 108,492,948 (GRCm39) |
L222P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,529,256 (GRCm39) |
S1753G |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,939,179 (GRCm39) |
V2070I |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,219,824 (GRCm39) |
V961A |
probably damaging |
Het |
| Pofut1 |
C |
T |
2: 153,103,158 (GRCm39) |
S169L |
probably benign |
Het |
| Ppp1r10 |
T |
A |
17: 36,240,335 (GRCm39) |
S542T |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,381,156 (GRCm39) |
Y219H |
possibly damaging |
Het |
| Ptges3l |
T |
C |
11: 101,312,731 (GRCm39) |
D113G |
possibly damaging |
Het |
| Pycr3 |
G |
A |
15: 75,790,647 (GRCm39) |
L71F |
probably benign |
Het |
| Ramp3 |
A |
G |
11: 6,624,867 (GRCm39) |
K54E |
possibly damaging |
Het |
| Rbpms |
C |
A |
8: 34,294,100 (GRCm39) |
Q214H |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
C |
A |
9: 37,319,348 (GRCm39) |
D565E |
probably damaging |
Het |
| S100a1 |
C |
T |
3: 90,418,641 (GRCm39) |
V58I |
probably benign |
Het |
| Setx |
T |
A |
2: 29,070,104 (GRCm39) |
D2636E |
probably benign |
Het |
| Sun2 |
A |
T |
15: 79,612,669 (GRCm39) |
V417E |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,660,519 (GRCm39) |
N99S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,064,893 (GRCm39) |
D1441G |
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,089,896 (GRCm39) |
M627K |
probably damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,628 (GRCm39) |
Y395C |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,759,398 (GRCm39) |
Y1129H |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,275,813 (GRCm39) |
R470S |
probably damaging |
Het |
| Tsg101 |
G |
T |
7: 46,539,372 (GRCm39) |
D389E |
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,882,406 (GRCm39) |
L46P |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 37,997,419 (GRCm39) |
I1745V |
possibly damaging |
Het |
| Usp20 |
T |
C |
2: 30,901,797 (GRCm39) |
Y521H |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,543,019 (GRCm39) |
H4Q |
probably null |
Het |
| Vmn2r27 |
T |
A |
6: 124,177,491 (GRCm39) |
E504D |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,086,867 (GRCm39) |
I612F |
probably benign |
Het |
| Zbtb8a |
T |
C |
4: 129,251,520 (GRCm39) |
H317R |
possibly damaging |
Het |
| Zfp507 |
T |
C |
7: 35,494,315 (GRCm39) |
S243G |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,005,419 (GRCm39) |
W73R |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,819,632 (GRCm39) |
D90E |
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 |
|
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 |
|
|
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'- AGGCAGAGCCGGAGCTATTTAAAAC -3'
(R):5'- AGGGGCAAACCCAGGTTCTCAAAC -3'
Sequencing Primer
(F):5'- cagaactcttgcctagtgtacc -3'
(R):5'- tgtgacaagtgctcactcc -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation