Incidental Mutation 'FR4340:Cacna1a'
ID |
511141 |
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 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.924)
|
Stock # |
FR4340 ()
|
Quality Score |
153.468 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
85065268-85366875 bp(+) (GRCm39) |
Type of Mutation |
small insertion (1 aa in frame mutation) |
DNA Base Change (assembly) |
ACC to ACCGCC
at 85365352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121390]
[ENSMUST00000122053]
|
AlphaFold |
P97445 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000121390
|
SMART Domains |
Protein: ENSMUSP00000112436 Gene: ENSMUSG00000034656
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
|
SMART Domains |
Protein: ENSMUSP00000114055 Gene: ENSMUSG00000034656
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: ENSMUST00000130507
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144879
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215756
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.4%
- 10x: 97.8%
- 20x: 94.3%
|
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: 115 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
AACC |
A |
7: 40,642,479 (GRCm39) |
|
probably benign |
Het |
4930578G10Rik |
G |
T |
4: 42,761,098 (GRCm39) |
|
probably benign |
Het |
7530416G11Rik |
T |
A |
15: 85,378,508 (GRCm39) |
E45V |
unknown |
Homo |
A530064D06Rik |
GTAGGAAGCTTAG |
GTAG |
17: 48,470,549 (GRCm39) |
|
probably benign |
Homo |
Arpc1b |
CC |
CCTGGTC |
5: 145,063,602 (GRCm39) |
|
probably null |
Het |
Arrb2 |
C |
T |
11: 70,329,497 (GRCm39) |
T269M |
probably damaging |
Homo |
Bcas3 |
G |
A |
11: 85,400,323 (GRCm39) |
V431I |
probably benign |
Homo |
Blm |
ACCT |
ACCTGCCT |
7: 80,113,515 (GRCm39) |
|
probably benign |
Het |
Blm |
TCCTCCTCCTCCTCCTCCTCCTCC |
TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,658 (GRCm39) |
|
probably benign |
Het |
Blm |
TCCTCCTCCTCCTCCTCCTCCTCC |
TCCTCCTCCTCCGCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,655 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
TATTATTAT |
TATTATTATTATTATCATTATTAT |
3: 37,104,901 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
AGG |
AGGCGG |
X: 7,486,306 (GRCm39) |
|
probably benign |
Het |
Calhm1 |
CTCTGTGGCTGTGGCTGTGGCTGTG |
CTCTGTGGCTGTGTCTGTGGCTGTGGCTGTGGCTGTG |
19: 47,129,690 (GRCm39) |
|
probably benign |
Het |
Casz1 |
ACCACAGCCACAGCCACAGCCAC |
ACCACAGCCACAGCCAC |
4: 149,036,759 (GRCm39) |
|
probably benign |
Homo |
Ccdc121 |
GAGAAG |
GAG |
5: 31,644,717 (GRCm39) |
|
probably benign |
Het |
Cd164 |
G |
T |
10: 41,397,922 (GRCm39) |
A59S |
probably benign |
Het |
Cd22 |
C |
T |
7: 30,577,507 (GRCm39) |
R2H |
possibly damaging |
Homo |
Cd80 |
GAA |
GAAAAA |
16: 38,306,678 (GRCm39) |
|
probably benign |
Homo |
Cimip2b |
CAGAG |
CAG |
4: 43,427,384 (GRCm39) |
|
probably null |
Homo |
Col2a1 |
C |
A |
15: 97,886,862 (GRCm39) |
|
probably null |
Het |
Col6a5 |
A |
T |
9: 105,811,373 (GRCm39) |
N715K |
unknown |
Homo |
Crygc |
A |
T |
1: 65,110,822 (GRCm39) |
F155Y |
probably benign |
Het |
Cul9 |
TCC |
TCCCCC |
17: 46,811,779 (GRCm39) |
|
probably benign |
Het |
Cyp2d11 |
T |
TGGGA |
15: 82,274,223 (GRCm39) |
|
probably null |
Homo |
Dbr1 |
AGG |
AGGAGGCGG |
9: 99,465,754 (GRCm39) |
|
probably benign |
Het |
Dennd10 |
CT |
CTTTT |
19: 60,803,059 (GRCm39) |
|
probably benign |
Homo |
Dennd2b |
CACCACACTGGGGCAGCCCACACTGGGGCAG |
CCCCACACTGGGGCAG |
7: 109,156,128 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,571,342 (GRCm39) |
G2817V |
probably damaging |
Homo |
Dnah8 |
ACACTGCC |
AC |
17: 30,854,437 (GRCm39) |
|
probably benign |
Het |
Dthd1 |
C |
CTTA |
5: 63,000,369 (GRCm39) |
|
probably benign |
Homo |
Frem3 |
CT |
CTTTT |
8: 81,341,870 (GRCm39) |
|
probably benign |
Homo |
Frmpd2 |
G |
T |
14: 33,232,978 (GRCm39) |
L399F |
probably damaging |
Homo |
G530012D18Rik |
CACACAGAGAGAGAGAGAGAGAGAGA |
CA |
1: 85,504,873 (GRCm39) |
|
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,309,413 (GRCm39) |
I175V |
probably benign |
Het |
Gm14393 |
T |
C |
2: 174,903,427 (GRCm39) |
E160G |
possibly damaging |
Het |
Gm16519 |
A |
AGAAC |
17: 71,236,333 (GRCm39) |
|
probably null |
Homo |
Gm4340 |
GCAG |
GCAACAG |
10: 104,031,959 (GRCm39) |
|
probably benign |
Het |
Gm4340 |
CAGAAG |
CAGAAGAAG |
10: 104,031,960 (GRCm39) |
|
probably benign |
Het |
Gm4340 |
CAG |
CAGTAG |
10: 104,031,936 (GRCm39) |
|
probably null |
Het |
Gpatch11 |
AGGAAG |
AGGAAGGGGAAG |
17: 79,149,603 (GRCm39) |
|
probably benign |
Het |
H2-Q4 |
G |
A |
17: 35,599,381 (GRCm39) |
D155N |
probably damaging |
Het |
Ifi208 |
ATGGTG |
ATG |
1: 173,505,264 (GRCm39) |
|
probably benign |
Homo |
Ighv5-9 |
C |
T |
12: 113,625,497 (GRCm39) |
S82N |
probably benign |
Homo |
Ipo9 |
TCC |
TCCCCC |
1: 135,314,007 (GRCm39) |
|
probably benign |
Het |
Ipo9 |
CTC |
CTCTTC |
1: 135,314,009 (GRCm39) |
|
probably benign |
Het |
Isg20l2 |
AAG |
AAGTAG |
3: 87,839,019 (GRCm39) |
|
probably null |
Het |
Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,285,800 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,285,788 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,285,794 (GRCm39) |
|
probably benign |
Het |
Krt10 |
CCTCCT |
CCTCCTTCTCCT |
11: 99,280,100 (GRCm39) |
|
probably benign |
Het |
Krt10 |
CAC |
CACGAC |
11: 99,277,028 (GRCm39) |
|
probably benign |
Het |
Krt10 |
ACCG |
ACCGCCG |
11: 99,277,029 (GRCm39) |
|
probably benign |
Homo |
Las1l |
TCCTC |
TCCTCTACCTC |
X: 94,984,228 (GRCm39) |
|
probably benign |
Het |
Lce1a1 |
C |
T |
3: 92,554,151 (GRCm39) |
G108S |
unknown |
Het |
Lkaaear1 |
CCAGCTCCAG |
CCAGCTCCAGCTGCAGCTCCAG |
2: 181,339,387 (GRCm39) |
|
probably benign |
Het |
Lrit3 |
CTG |
CTGTTG |
3: 129,582,457 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
CAG |
CAGAAG |
X: 70,162,452 (GRCm39) |
|
probably benign |
Het |
Mapk7 |
TGCTGGCGCTGGTGCTGGCGCTGG |
TGCTGGCGCTGGCGCTGGTGCTGGCGCTGG |
11: 61,381,032 (GRCm39) |
|
probably benign |
Het |
Mast4 |
GCA |
GCAGTGTCA |
13: 102,872,825 (GRCm39) |
|
probably benign |
Homo |
Mast4 |
TTTT |
TTTTATTT |
13: 102,871,365 (GRCm39) |
|
probably null |
Het |
Med12l |
AGC |
AGCCGC |
3: 59,183,406 (GRCm39) |
|
probably benign |
Het |
Mfsd5 |
G |
A |
15: 102,189,596 (GRCm39) |
V323I |
probably benign |
Het |
Nacad |
GTC |
GTCAGGATC |
11: 6,549,761 (GRCm39) |
|
probably benign |
Het |
Naip1 |
A |
C |
13: 100,559,584 (GRCm39) |
M1140R |
probably benign |
Het |
Nbea |
TTTA |
T |
3: 55,916,633 (GRCm39) |
|
probably benign |
Homo |
Nefh |
CTCACCTGGGGACTTGGCCTC |
CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,040 (GRCm39) |
|
probably benign |
Homo |
Nefh |
ACTTGGCCTCACCTGGGG |
ACTTGGCCTCACCTGGGGCCTTGGCCTCACCTGGGG |
11: 4,891,033 (GRCm39) |
|
probably benign |
Het |
Nefh |
GCCTCACCTGGGGACTTGGCCTC |
GCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,038 (GRCm39) |
|
probably benign |
Homo |
Neu1 |
TCTTCTA |
T |
17: 35,151,534 (GRCm39) |
|
probably benign |
Het |
Nutf2 |
G |
T |
8: 106,603,202 (GRCm39) |
D78Y |
probably damaging |
Het |
Or51q1 |
TCC |
TCCC |
7: 103,629,110 (GRCm39) |
|
probably null |
Het |
Or5e1 |
AT |
ATGATATT |
7: 108,354,161 (GRCm39) |
|
probably benign |
Homo |
Or5p70 |
G |
A |
7: 107,995,105 (GRCm39) |
M259I |
probably benign |
Het |
Or5p70 |
A |
G |
7: 107,995,100 (GRCm39) |
T258A |
probably benign |
Het |
Pdik1l |
ACCAC |
ACCACCCCCAC |
4: 134,006,823 (GRCm39) |
|
probably benign |
Het |
Phaf1 |
G |
A |
8: 105,967,730 (GRCm39) |
G207E |
probably benign |
Homo |
Pik3c2g |
AG |
AGAGGG |
6: 139,612,654 (GRCm39) |
|
probably null |
Homo |
Plekhs1 |
TCCAGAC |
TCCAGACCTCCCCCCAGAC |
19: 56,468,290 (GRCm39) |
|
probably benign |
Homo |
Prag1 |
C |
CAGT |
8: 36,571,040 (GRCm39) |
|
probably benign |
Homo |
Pramel16 |
G |
A |
4: 143,676,312 (GRCm39) |
T264M |
probably damaging |
Het |
Prkn |
G |
A |
17: 12,073,650 (GRCm39) |
V323M |
probably damaging |
Homo |
Raet1d |
A |
G |
10: 22,247,458 (GRCm39) |
Q178R |
probably benign |
Het |
Serac1 |
T |
A |
17: 6,121,083 (GRCm39) |
K70N |
probably damaging |
Homo |
Serpina3i |
CGG |
CGGTGG |
12: 104,231,423 (GRCm39) |
|
probably benign |
Het |
Sfswap |
ACTCAGCCC |
ACTCAGCCCCCTCAGCCC |
5: 129,646,815 (GRCm39) |
|
probably benign |
Het |
Six3 |
CGG |
CGGGGG |
17: 85,928,784 (GRCm39) |
|
probably benign |
Het |
Sp140l1 |
A |
C |
1: 85,087,072 (GRCm39) |
N6K |
probably damaging |
Het |
Speer4a1 |
C |
A |
5: 26,241,746 (GRCm39) |
E127* |
probably null |
Het |
Sry |
GCTGCTGCTGCTG |
GCTGCTGCTGCTGCTG |
Y: 2,662,824 (GRCm39) |
|
probably benign |
Het |
Tbr1 |
A |
C |
2: 61,636,691 (GRCm39) |
|
probably benign |
Het |
Tdpoz2 |
T |
TCC |
3: 93,558,922 (GRCm39) |
|
probably null |
Homo |
Tdpoz4 |
GAA |
GA |
3: 93,704,187 (GRCm39) |
|
probably null |
Het |
Tgoln1 |
AAG |
AAGCCTCAG |
6: 72,593,334 (GRCm39) |
|
probably benign |
Homo |
Tmbim7 |
C |
T |
5: 3,720,064 (GRCm39) |
R100C |
possibly damaging |
Het |
Tob1 |
CA |
CAGAA |
11: 94,105,303 (GRCm39) |
|
probably benign |
Het |
Tob1 |
AGC |
AGCCGC |
11: 94,105,280 (GRCm39) |
|
probably benign |
Het |
Tob1 |
AGC |
AGCCGC |
11: 94,105,286 (GRCm39) |
|
probably benign |
Het |
Tomm5 |
GCATCTTCC |
GCATCTTCCACATCTTCC |
4: 45,107,973 (GRCm39) |
|
probably benign |
Het |
Triobp |
TCGG |
TCGGCGG |
15: 78,877,590 (GRCm39) |
|
probably benign |
Homo |
Tsbp1 |
GC |
GCAAC |
17: 34,679,051 (GRCm39) |
|
probably benign |
Het |
Tsbp1 |
CAG |
CAGTAG |
17: 34,679,034 (GRCm39) |
|
probably null |
Het |
Tsbp1 |
GCA |
GCATCA |
17: 34,679,042 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
AGG |
AGGGGG |
6: 115,537,027 (GRCm39) |
|
probably benign |
Homo |
Tsen2 |
AGG |
AGGGGG |
6: 115,537,030 (GRCm39) |
|
probably benign |
Homo |
Ubtf |
TCC |
TCCCCC |
11: 102,197,776 (GRCm39) |
|
probably benign |
Het |
Vmn2r87 |
C |
T |
10: 130,314,583 (GRCm39) |
M334I |
probably benign |
Homo |
Zc3h13 |
CGGGATGTGCG |
CGGGATGTGCGGGATGTGCG |
14: 75,561,032 (GRCm39) |
|
probably benign |
Homo |
Zfp28 |
G |
A |
7: 6,397,862 (GRCm39) |
G766R |
probably damaging |
Het |
Zfp384 |
AAGCCCAGGCCCAGGCCCAGGCCCA |
AAGCCCAGGCCCAAGCCCAGGCCCAGGCCCAGGCCCA |
6: 125,013,426 (GRCm39) |
|
probably benign |
Het |
Zfp428 |
G |
A |
7: 24,214,506 (GRCm39) |
D41N |
probably damaging |
Homo |
Zfp598 |
CCACAGGC |
CC |
17: 24,898,346 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
CCACCA |
CCACCAACACCA |
17: 24,899,757 (GRCm39) |
|
probably benign |
Het |
Zfp831 |
TCC |
TCCCCC |
2: 174,487,273 (GRCm39) |
|
probably benign |
Het |
Zfp933 |
GCTT |
GCTTTTCTT |
4: 147,910,186 (GRCm39) |
|
probably null |
Homo |
Zfp936 |
G |
A |
7: 42,838,913 (GRCm39) |
G127R |
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 |
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 |
|
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'- GGGGTGCTCTAGCTGAAAAG -3'
(R):5'- TTCCGAAGTCACTCACAGGC -3'
Sequencing Primer
(F):5'- GAAACCAGGGGCTGCTG -3'
(R):5'- AAGTCACTCACAGGCGTCCG -3'
|
Posted On |
2018-04-05 |