Incidental Mutation 'R1503:Cacna1a'
ID |
169454 |
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 |
039553-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.924)
|
Stock # |
R1503 (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 85328575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1624
(D1624G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121390]
[ENSMUST00000122053]
|
AlphaFold |
P97445 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000121390
AA Change: D1671G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000112436 Gene: ENSMUSG00000034656 AA Change: D1671G
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
AA Change: D1624G
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000114055 Gene: ENSMUSG00000034656 AA Change: D1624G
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: ENSMUST00000141981
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143215
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144879
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153691
|
Predicted Effect |
unknown
Transcript: ENSMUST00000215756
AA Change: D1623G
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Atf7ip |
G |
T |
6: 136,583,865 (GRCm39) |
V1299L |
probably damaging |
Het |
Atp12a |
A |
T |
14: 56,610,881 (GRCm39) |
N342Y |
probably damaging |
Het |
Atp8b5 |
G |
A |
4: 43,344,430 (GRCm39) |
G439D |
probably damaging |
Het |
Bpifb2 |
G |
A |
2: 153,731,430 (GRCm39) |
D269N |
possibly damaging |
Het |
Btd |
T |
G |
14: 31,389,612 (GRCm39) |
C444W |
probably damaging |
Het |
Carmil3 |
A |
C |
14: 55,735,737 (GRCm39) |
N563T |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,122,726 (GRCm39) |
R538G |
probably benign |
Het |
Catsperd |
A |
G |
17: 56,961,525 (GRCm39) |
K416E |
possibly damaging |
Het |
Cc2d2a |
A |
T |
5: 43,852,581 (GRCm39) |
Y386F |
probably damaging |
Het |
Ccpg1 |
A |
G |
9: 72,906,760 (GRCm39) |
N66S |
probably benign |
Het |
Cd48 |
T |
A |
1: 171,523,415 (GRCm39) |
L86H |
probably damaging |
Het |
Cdan1 |
A |
T |
2: 120,560,056 (GRCm39) |
H369Q |
probably damaging |
Het |
Chil4 |
T |
C |
3: 106,113,350 (GRCm39) |
D189G |
probably benign |
Het |
Cit |
T |
A |
5: 116,011,959 (GRCm39) |
Y189N |
possibly damaging |
Het |
Cntn3 |
G |
A |
6: 102,441,526 (GRCm39) |
Q7* |
probably null |
Het |
Csn1s2a |
A |
T |
5: 87,923,658 (GRCm39) |
I5F |
possibly damaging |
Het |
Ctnnd1 |
C |
T |
2: 84,435,523 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
A |
T |
9: 54,354,272 (GRCm39) |
Y391* |
probably null |
Het |
Dnah12 |
T |
C |
14: 26,495,649 (GRCm39) |
S1426P |
probably damaging |
Het |
Dnhd1 |
T |
G |
7: 105,342,867 (GRCm39) |
S1404A |
possibly damaging |
Het |
Drosha |
T |
A |
15: 12,848,159 (GRCm39) |
C484S |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,582,736 (GRCm39) |
I125F |
probably damaging |
Het |
Egfr |
T |
A |
11: 16,819,301 (GRCm39) |
M277K |
possibly damaging |
Het |
Eml5 |
G |
T |
12: 98,797,433 (GRCm39) |
L1059I |
probably damaging |
Het |
Erbb4 |
G |
T |
1: 68,385,705 (GRCm39) |
H295N |
probably benign |
Het |
Etl4 |
T |
G |
2: 20,748,685 (GRCm39) |
V139G |
possibly damaging |
Het |
Fhip1a |
T |
A |
3: 85,579,784 (GRCm39) |
Y807F |
possibly damaging |
Het |
Frem3 |
A |
T |
8: 81,413,647 (GRCm39) |
E1969D |
probably damaging |
Het |
Gdf3 |
T |
A |
6: 122,583,296 (GRCm39) |
D357V |
probably damaging |
Het |
Gimap8 |
T |
A |
6: 48,624,463 (GRCm39) |
|
probably null |
Het |
Gml2 |
C |
A |
15: 74,693,201 (GRCm39) |
S68* |
probably null |
Het |
Gphn |
A |
G |
12: 78,551,403 (GRCm39) |
I248V |
possibly damaging |
Het |
Greb1 |
A |
T |
12: 16,774,820 (GRCm39) |
Y192* |
probably null |
Het |
Hmbs |
A |
C |
9: 44,248,729 (GRCm39) |
L215W |
probably benign |
Het |
Iglon5 |
T |
A |
7: 43,128,449 (GRCm39) |
T123S |
probably benign |
Het |
Ints2 |
C |
T |
11: 86,117,607 (GRCm39) |
R705H |
probably damaging |
Het |
Ints8 |
A |
T |
4: 11,245,842 (GRCm39) |
L212Q |
probably damaging |
Het |
Itgad |
A |
G |
7: 127,797,293 (GRCm39) |
Y846C |
probably benign |
Het |
Kcnj1 |
A |
G |
9: 32,307,788 (GRCm39) |
T51A |
probably damaging |
Het |
Kif9 |
A |
T |
9: 110,339,506 (GRCm39) |
K449N |
possibly damaging |
Het |
Kifbp |
A |
G |
10: 62,395,187 (GRCm39) |
V485A |
probably damaging |
Het |
Klk1b11 |
G |
A |
7: 43,428,333 (GRCm39) |
W241* |
probably null |
Het |
Krt32 |
T |
C |
11: 99,974,936 (GRCm39) |
|
probably null |
Het |
Loxl1 |
A |
G |
9: 58,200,923 (GRCm39) |
F513S |
probably damaging |
Het |
Mapk8ip3 |
A |
T |
17: 25,123,897 (GRCm39) |
S571T |
probably damaging |
Het |
Mcam |
C |
T |
9: 44,052,588 (GRCm39) |
R606C |
probably damaging |
Het |
Mtss1 |
T |
C |
15: 58,823,521 (GRCm39) |
N282S |
probably damaging |
Het |
Myh13 |
T |
A |
11: 67,244,500 (GRCm39) |
D1012E |
probably benign |
Het |
Myo16 |
A |
G |
8: 10,552,817 (GRCm39) |
T952A |
probably benign |
Het |
Neb |
T |
C |
2: 52,188,632 (GRCm39) |
D874G |
probably damaging |
Het |
Nek11 |
A |
G |
9: 105,040,403 (GRCm39) |
Y553H |
probably damaging |
Het |
Nr2c2 |
T |
A |
6: 92,082,312 (GRCm39) |
V9D |
probably benign |
Het |
Nxf1 |
T |
A |
19: 8,739,800 (GRCm39) |
F51L |
probably benign |
Het |
Or1e1f |
T |
G |
11: 73,855,394 (GRCm39) |
|
probably null |
Het |
Or1j15 |
A |
T |
2: 36,458,885 (GRCm39) |
I92F |
probably damaging |
Het |
Or2aj5 |
A |
G |
16: 19,425,062 (GRCm39) |
S119P |
probably benign |
Het |
Or4c35 |
T |
C |
2: 89,808,872 (GRCm39) |
V250A |
probably damaging |
Het |
Or5bw2 |
A |
G |
7: 6,573,470 (GRCm39) |
N160S |
probably damaging |
Het |
Or6s1 |
A |
G |
14: 51,308,191 (GRCm39) |
S220P |
probably damaging |
Het |
Or6z6 |
T |
C |
7: 6,491,178 (GRCm39) |
I232V |
probably damaging |
Het |
Pcdhb8 |
A |
T |
18: 37,489,572 (GRCm39) |
N76Y |
probably damaging |
Het |
Pdzrn4 |
T |
A |
15: 92,297,685 (GRCm39) |
F217I |
probably damaging |
Het |
Ppp1r16a |
T |
A |
15: 76,578,599 (GRCm39) |
H434Q |
probably benign |
Het |
Prpf19 |
T |
A |
19: 10,878,386 (GRCm39) |
F291I |
possibly damaging |
Het |
R3hdm2 |
G |
T |
10: 127,307,695 (GRCm39) |
E319* |
probably null |
Het |
Sel1l3 |
A |
G |
5: 53,295,271 (GRCm39) |
Y777H |
probably damaging |
Het |
Serpinb5 |
G |
A |
1: 106,798,019 (GRCm39) |
A3T |
possibly damaging |
Het |
Skp2 |
C |
A |
15: 9,127,998 (GRCm39) |
V88F |
probably damaging |
Het |
Slc25a16 |
T |
C |
10: 62,764,155 (GRCm39) |
Y71H |
probably damaging |
Het |
Slc6a6 |
T |
A |
6: 91,717,973 (GRCm39) |
I304N |
probably damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Sox17 |
C |
A |
1: 4,562,151 (GRCm39) |
G222C |
probably damaging |
Het |
Trmu |
T |
A |
15: 85,779,220 (GRCm39) |
V289E |
possibly damaging |
Het |
Vdac2 |
A |
G |
14: 21,887,945 (GRCm39) |
E96G |
probably damaging |
Het |
Wdhd1 |
A |
T |
14: 47,484,857 (GRCm39) |
D885E |
probably benign |
Het |
Zfp646 |
A |
G |
7: 127,479,308 (GRCm39) |
N495S |
probably damaging |
Het |
Zfp663 |
T |
C |
2: 165,194,573 (GRCm39) |
T549A |
probably damaging |
Het |
Zfp935 |
G |
A |
13: 62,602,951 (GRCm39) |
A83V |
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 |
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 |
|
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'- TGTCTACACCCAGCGTCTACAGAG -3'
(R):5'- TTCACCCCAACTGGAGAGTCAGAG -3'
Sequencing Primer
(F):5'- TGACCCAGTTCAGAAGGCTC -3'
(R):5'- TCAGAGGGATCATATTCTCAGGC -3'
|
Posted On |
2014-04-13 |