Incidental Mutation 'FR4449:Cacna1a'
ID |
511487 |
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 # |
FR4449 ()
|
Quality Score |
217.468 |
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 ACCCCC
at 85365349 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: 99.5%
- 10x: 98.3%
- 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: 126 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
GGTATTGCATTTCTTATCT |
G |
5: 4,031,214 (GRCm39) |
|
probably benign |
Homo |
Amfr |
C |
G |
8: 94,731,787 (GRCm39) |
G30R |
probably damaging |
Homo |
Anxa7 |
C |
T |
14: 20,519,479 (GRCm39) |
G113E |
probably damaging |
Homo |
Apc |
AGC |
AGCCAATAACGC |
18: 34,415,058 (GRCm39) |
|
probably benign |
Het |
Apc |
AATAAAGC |
AATAAAGCCGATAAAGC |
18: 34,415,053 (GRCm39) |
|
probably benign |
Het |
Apol6 |
TTT |
TTTGATT |
15: 76,935,643 (GRCm39) |
|
probably null |
Homo |
Arid1b |
CGG |
CGGTGG |
17: 5,045,864 (GRCm39) |
|
probably benign |
Het |
B430218F22Rik |
CGGCG |
CGGCGATGGCG |
13: 118,523,387 (GRCm39) |
|
probably benign |
Homo |
Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,656 (GRCm39) |
|
probably benign |
Het |
Brd2 |
CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
CAAAAAAAAAAAAAAA |
17: 34,335,310 (GRCm39) |
|
probably benign |
Het |
Btnl10 |
AAG |
AAGGAG |
11: 58,814,754 (GRCm39) |
|
probably benign |
Homo |
Calhm1 |
TGGC |
TGGCTGTGGCTGCGGC |
19: 47,129,713 (GRCm39) |
|
probably benign |
Het |
Ccdc15 |
C |
CTTTAT |
9: 37,226,454 (GRCm39) |
|
probably null |
Het |
Ccdc85c |
CCG |
CCGACG |
12: 108,240,875 (GRCm39) |
|
probably benign |
Het |
Ccnk |
TTCCCAC |
T |
12: 108,168,766 (GRCm39) |
|
probably benign |
Het |
Cdhr2 |
AGTC |
AGTCGTC |
13: 54,873,737 (GRCm39) |
|
probably benign |
Homo |
Cdk15 |
A |
ATCTAAAAGG |
1: 59,296,982 (GRCm39) |
|
probably benign |
Homo |
Cdx1 |
GCTG |
GCTGCTCCTG |
18: 61,152,953 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
T |
C |
7: 139,218,711 (GRCm39) |
|
probably benign |
Homo |
Cgref1 |
TTC |
TTCGTC |
5: 31,091,120 (GRCm39) |
|
probably benign |
Het |
Cgref1 |
CTT |
CTTATT |
5: 31,091,122 (GRCm39) |
|
probably null |
Homo |
Cluh |
G |
GACTGAA |
11: 74,560,358 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
AGCCCC |
AGCCCCCGCCCC |
11: 101,080,395 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
AGCC |
AGCCCCCGCC |
11: 101,080,419 (GRCm39) |
|
probably benign |
Het |
Cpne1 |
CCTACT |
CCT |
2: 155,915,422 (GRCm39) |
|
probably benign |
Homo |
Cracdl |
T |
A |
1: 37,664,116 (GRCm39) |
E594V |
probably benign |
Homo |
Cracdl |
C |
A |
1: 37,664,117 (GRCm39) |
E594* |
probably null |
Homo |
Cttnbp2 |
CTGCTG |
CTGCTGTTGCTG |
6: 18,367,461 (GRCm39) |
|
probably benign |
Het |
Cul9 |
TCC |
TCCGCC |
17: 46,811,782 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
GGAGGA |
GGAGGAAGAGGA |
9: 99,465,749 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
AGGAGG |
AGGAGGCGGAGG |
9: 99,465,739 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
AGGAGG |
AGGAGGGGGAGG |
9: 99,465,727 (GRCm39) |
|
probably benign |
Het |
Dhx8 |
AGACCGGGACCGGGACCGGGACCGGGAC |
AGACCGGGACCGGGAC |
11: 101,629,016 (GRCm39) |
|
probably benign |
Het |
Dhx8 |
CG |
CGAGACAG |
11: 101,629,020 (GRCm39) |
|
probably benign |
Homo |
Dhx8 |
CG |
CGAGACAG |
11: 101,629,032 (GRCm39) |
|
probably benign |
Het |
Dhx8 |
G |
GAGACCC |
11: 101,629,033 (GRCm39) |
|
probably benign |
Het |
Dhx8 |
AGACCG |
AGACCGTGACCG |
11: 101,629,010 (GRCm39) |
|
probably benign |
Homo |
Dspp |
CGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG |
CGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG |
5: 104,326,254 (GRCm39) |
|
probably benign |
Het |
Dusp10 |
G |
T |
1: 183,769,253 (GRCm39) |
C73F |
probably damaging |
Homo |
Erich3 |
GA |
GAGAA |
3: 154,469,150 (GRCm39) |
|
probably benign |
Homo |
Ermn |
CTT |
CTTGTT |
2: 57,938,086 (GRCm39) |
|
probably benign |
Het |
Fgd6 |
GGAT |
G |
10: 93,880,182 (GRCm39) |
|
probably benign |
Homo |
G530012D18Rik |
GAGAGAGAGAGAGAGAGACAGAGA |
GAGAGA |
1: 85,504,901 (GRCm39) |
|
probably benign |
Homo |
Gar1 |
GCCGCCTCCGCC |
GCCGCC |
3: 129,624,353 (GRCm39) |
|
probably benign |
Homo |
Gatad2b |
AGAC |
A |
3: 90,249,224 (GRCm39) |
|
probably benign |
Het |
Gigyf2 |
C |
T |
1: 87,356,307 (GRCm39) |
|
probably benign |
Het |
Gm16519 |
A |
AGAT |
17: 71,236,333 (GRCm39) |
|
probably benign |
Homo |
Gm4340 |
AGC |
AGCGGC |
10: 104,031,946 (GRCm39) |
|
probably benign |
Het |
Gm4340 |
GCA |
GCATCA |
10: 104,031,947 (GRCm39) |
|
probably benign |
Het |
Gm4340 |
AGC |
AGCGGC |
10: 104,031,943 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
AGGAAG |
AGGAAGCGGAAG |
17: 79,149,597 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
GAAGAG |
GAAGAGCAAGAG |
17: 79,149,605 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
GG |
GGCAGACG |
17: 79,149,610 (GRCm39) |
|
probably benign |
Het |
Hoxa10 |
T |
A |
6: 52,211,166 (GRCm39) |
Q250L |
possibly damaging |
Homo |
Igkv12-89 |
GCA |
GCAGCAGCAACA |
6: 68,812,264 (GRCm39) |
|
probably benign |
Homo |
Igsf10 |
G |
A |
3: 59,226,531 (GRCm39) |
R2381C |
probably damaging |
Homo |
Il17rd |
GGC |
GGCAGC |
14: 26,804,635 (GRCm39) |
|
probably benign |
Het |
Ints5 |
G |
A |
19: 8,874,594 (GRCm39) |
R851Q |
probably benign |
Het |
Isg20l2 |
AGA |
AGAGGA |
3: 87,839,020 (GRCm39) |
|
probably benign |
Het |
Kcng4 |
G |
T |
8: 120,360,258 (GRCm39) |
Y39* |
probably null |
Homo |
Kifc5b |
A |
C |
17: 27,143,191 (GRCm39) |
E321A |
probably benign |
Het |
Klra2 |
TCCACAG |
TCCACAGAAACCCACAG |
6: 131,198,809 (GRCm39) |
|
probably null |
Homo |
Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,285,794 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
CCTCCT |
CCTCCTGCTCCT |
7: 30,285,786 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
TCCTCC |
TCCTCCACCTCC |
7: 30,285,791 (GRCm39) |
|
probably benign |
Het |
Krt10 |
ACC |
ACCACCTCC |
11: 99,280,093 (GRCm39) |
|
probably benign |
Het |
Las1l |
GA |
GAGAA |
X: 94,984,438 (GRCm39) |
|
probably benign |
Het |
Lce1m |
AC |
ACTGCTGCTGCCGC |
3: 92,925,459 (GRCm39) |
|
probably benign |
Het |
Leo1 |
GTACCATGCA |
G |
9: 75,357,855 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
CA |
CATCTCCAGCTCTA |
2: 181,339,364 (GRCm39) |
|
probably benign |
Het |
Maml2 |
ACAGCAGCAGCAACAGCAGCAGCAGCAGCA |
ACAGCAACAGCAGCAGCAGCAGCA |
9: 13,532,752 (GRCm39) |
|
probably benign |
Homo |
Med12l |
CAG |
CAGTAG |
3: 59,183,384 (GRCm39) |
|
probably null |
Het |
Mgat4e |
GTCGTAGTCATCGT |
GTCGT |
1: 134,468,735 (GRCm39) |
|
probably benign |
Homo |
Mn1 |
GCA |
GCAACA |
5: 111,567,576 (GRCm39) |
|
probably benign |
Het |
Morn4 |
AGGCAGTGAG |
AGGCAGTGAGTCTGGCAGTGAG |
19: 42,064,548 (GRCm39) |
|
probably benign |
Het |
Nat8f2 |
T |
A |
6: 85,844,668 (GRCm39) |
L231F |
possibly damaging |
Homo |
Noc2l |
C |
CTGA |
4: 156,324,558 (GRCm39) |
|
probably benign |
Het |
Nrg3 |
T |
TAGACAC |
14: 38,119,228 (GRCm39) |
|
probably benign |
Het |
Or8b41 |
A |
G |
9: 38,054,484 (GRCm39) |
I13V |
probably benign |
Homo |
Piezo1 |
G |
A |
8: 123,222,308 (GRCm39) |
R503W |
probably damaging |
Homo |
Pih1d2 |
CTCTTGCGAGGATC |
CTC |
9: 50,532,927 (GRCm39) |
|
probably null |
Homo |
Pik3ap1 |
G |
GGAA |
19: 41,270,385 (GRCm39) |
|
probably benign |
Het |
Ppp1r3f |
C |
A |
X: 7,426,575 (GRCm39) |
G562V |
probably damaging |
Homo |
Ptms |
TTC |
TTCGTC |
6: 124,891,422 (GRCm39) |
|
probably benign |
Het |
Ptpn23 |
G |
T |
9: 110,216,701 (GRCm39) |
P1052T |
probably benign |
Homo |
Qrich2 |
AACT |
A |
11: 116,347,025 (GRCm39) |
|
probably benign |
Homo |
Raet1d |
A |
ATATCCTCTCTGG |
10: 22,246,814 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
AGCAGCAGCAGCACCAGCCGCAGCAGCAGCA |
AGCAGCAGCAGCA |
5: 28,599,166 (GRCm39) |
|
probably benign |
Homo |
Rrbp1 |
TGCTTCTCAAAGGTGGCTGCCTTGGCTTC |
TGCTTC |
2: 143,809,376 (GRCm39) |
|
probably null |
Het |
Sbp |
CAACAAAGATGCTGA |
CAACAAAGATGCTGAGAACAAAGATGCTGA |
17: 24,164,338 (GRCm39) |
|
probably benign |
Het |
Setd1a |
G |
A |
7: 127,384,498 (GRCm39) |
|
probably benign |
Het |
Sfswap |
CCCACTCAG |
CCCACTCAGTCCACTCAG |
5: 129,646,812 (GRCm39) |
|
probably benign |
Het |
Sfswap |
CCACTCAGC |
CCACTCAGCTCACTCAGC |
5: 129,646,813 (GRCm39) |
|
probably benign |
Het |
Sh3pxd2b |
T |
TGTCTGC |
11: 32,373,065 (GRCm39) |
|
probably benign |
Homo |
Six3 |
CGG |
CGGGGG |
17: 85,928,790 (GRCm39) |
|
probably benign |
Het |
Slc12a1 |
C |
CTTTGGCCACAACACG |
2: 124,996,136 (GRCm39) |
|
probably benign |
Homo |
Slc26a8 |
CTCTCTG |
C |
17: 28,857,290 (GRCm39) |
|
probably benign |
Het |
Spata31h1 |
TTCAGT |
TT |
10: 82,121,303 (GRCm39) |
|
probably null |
Homo |
Srebf2 |
G |
T |
15: 82,069,536 (GRCm39) |
A693S |
probably damaging |
Homo |
Sry |
ACTG |
ACTGCTG |
Y: 2,662,818 (GRCm39) |
|
probably benign |
Het |
Sry |
TGCTG |
TGCTGCTG |
Y: 2,662,832 (GRCm39) |
|
probably benign |
Homo |
Ston1 |
G |
A |
17: 88,942,953 (GRCm39) |
V120M |
probably benign |
Homo |
Supt20 |
CAGCAG |
CAGCAGGAGCAG |
3: 54,635,070 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
TG |
TGTGG |
17: 24,921,518 (GRCm39) |
|
probably benign |
Homo |
Tctn3 |
AG |
AGAAGCCG |
19: 40,595,646 (GRCm39) |
|
probably benign |
Het |
Tesk1 |
CCC |
CCCACC |
4: 43,447,002 (GRCm39) |
|
probably benign |
Homo |
Tmc2 |
T |
G |
2: 130,082,116 (GRCm39) |
V433G |
probably damaging |
Het |
Tmprss13 |
G |
A |
9: 45,239,856 (GRCm39) |
A55T |
unknown |
Het |
Tnfaip8 |
ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
AC |
18: 50,179,906 (GRCm39) |
|
probably null |
Homo |
Tob1 |
CAG |
CAGAAG |
11: 94,105,294 (GRCm39) |
|
probably benign |
Het |
Tob1 |
AGC |
AGCCGC |
11: 94,105,301 (GRCm39) |
|
probably benign |
Het |
Tpsab1 |
TTGCACCTCCT |
TT |
17: 25,562,756 (GRCm39) |
|
probably benign |
Homo |
Triobp |
GTC |
GTCTTC |
15: 78,877,589 (GRCm39) |
|
probably benign |
Het |
Ubtf |
CCT |
CCTACT |
11: 102,197,774 (GRCm39) |
|
probably null |
Het |
Vps13b |
G |
T |
15: 35,847,103 (GRCm39) |
A2629S |
probably damaging |
Homo |
Xpnpep3 |
G |
C |
15: 81,311,623 (GRCm39) |
D110H |
possibly damaging |
Het |
Zc3h13 |
CGAGATGTG |
CGAGATGTGTGAGATGTG |
14: 75,561,041 (GRCm39) |
|
probably null |
Homo |
Zfhx3 |
GCAACAGCA |
GCAACAGCAACAACAGCA |
8: 109,682,726 (GRCm39) |
|
probably benign |
Homo |
Zfp26 |
C |
A |
9: 20,349,842 (GRCm39) |
A241S |
probably benign |
Homo |
Zfp335 |
CTC |
CTCATC |
2: 164,749,397 (GRCm39) |
|
probably benign |
Het |
Zfp335 |
CTCT |
CTCTTCT |
2: 164,749,403 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
ACCACC |
ACCACCTCCACC |
17: 24,899,750 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
ACCACC |
ACCACCCCCACC |
17: 24,899,759 (GRCm39) |
|
probably benign |
Het |
Zfp831 |
TCC |
TCCACC |
2: 174,487,264 (GRCm39) |
|
probably benign |
Het |
Zfp831 |
CTC |
CTCGTC |
2: 174,487,275 (GRCm39) |
|
probably benign |
Het |
Zfp978 |
G |
T |
4: 147,475,401 (GRCm39) |
S316I |
probably benign |
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 |
85,365,343 (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 |