Incidental Mutation 'R1563:Cacna1i'
| ID |
170793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1i
|
| Ensembl Gene |
ENSMUSG00000022416 |
| Gene Name |
calcium channel, voltage-dependent, alpha 1I subunit |
| Synonyms |
|
| MMRRC Submission |
039602-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80171439-80282480 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80205389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 115
(V115A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160424]
[ENSMUST00000162155]
|
| AlphaFold |
E9Q7P2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160424
AA Change: V115A
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: V115A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
76 |
407 |
1.4e-79 |
PFAM |
|
low complexity region
|
464 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
554 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
597 |
830 |
7.4e-58 |
PFAM |
|
low complexity region
|
870 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
919 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
984 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1069 |
1080 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1128 |
1401 |
7.8e-65 |
PFAM |
|
Pfam:Ion_trans
|
1445 |
1700 |
9.4e-58 |
PFAM |
|
Pfam:PKD_channel
|
1538 |
1694 |
1.4e-10 |
PFAM |
|
low complexity region
|
1718 |
1739 |
N/A |
INTRINSIC |
|
low complexity region
|
1744 |
1760 |
N/A |
INTRINSIC |
|
low complexity region
|
1837 |
1853 |
N/A |
INTRINSIC |
|
low complexity region
|
1922 |
1933 |
N/A |
INTRINSIC |
|
low complexity region
|
1990 |
2005 |
N/A |
INTRINSIC |
|
low complexity region
|
2041 |
2058 |
N/A |
INTRINSIC |
|
low complexity region
|
2087 |
2097 |
N/A |
INTRINSIC |
|
low complexity region
|
2103 |
2126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162155
AA Change: V115A
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: V115A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
115 |
395 |
1.9e-66 |
PFAM |
|
low complexity region
|
464 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
554 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
632 |
819 |
2.4e-45 |
PFAM |
|
low complexity region
|
870 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
919 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
984 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1069 |
1080 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1165 |
1389 |
6.2e-55 |
PFAM |
|
coiled coil region
|
1394 |
1426 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1480 |
1688 |
1.9e-47 |
PFAM |
|
Pfam:PKD_channel
|
1538 |
1694 |
4.8e-10 |
PFAM |
|
low complexity region
|
1718 |
1739 |
N/A |
INTRINSIC |
|
low complexity region
|
1744 |
1760 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0941 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
98% (82/84) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
T |
C |
5: 115,001,569 (GRCm39) |
M22T |
probably benign |
Het |
| A930018M24Rik |
A |
G |
14: 51,134,576 (GRCm39) |
L22P |
probably damaging |
Het |
| Aipl1 |
A |
T |
11: 71,927,538 (GRCm39) |
M59K |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,589,747 (GRCm39) |
I1835V |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,554,361 (GRCm39) |
M685K |
probably damaging |
Het |
| Cdh10 |
T |
A |
15: 18,986,853 (GRCm39) |
Y361* |
probably null |
Het |
| Clcn4 |
C |
T |
7: 7,296,981 (GRCm39) |
C219Y |
probably damaging |
Het |
| Cpeb2 |
G |
A |
5: 43,443,080 (GRCm39) |
V924M |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,745,411 (GRCm39) |
E138G |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,748,441 (GRCm39) |
Y346C |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,854,638 (GRCm39) |
L100Q |
probably benign |
Het |
| Dnajc6 |
A |
C |
4: 101,456,334 (GRCm39) |
N76T |
probably damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,009,231 (GRCm39) |
L954P |
probably damaging |
Het |
| Eral1 |
A |
T |
11: 77,966,232 (GRCm39) |
D315E |
probably benign |
Het |
| Fbln2 |
G |
T |
6: 91,240,365 (GRCm39) |
E724* |
probably null |
Het |
| Fyco1 |
A |
G |
9: 123,656,247 (GRCm39) |
|
probably benign |
Het |
| Fzd3 |
T |
A |
14: 65,473,173 (GRCm39) |
E198D |
probably damaging |
Het |
| Fzd9 |
T |
C |
5: 135,279,408 (GRCm39) |
N159S |
probably damaging |
Het |
| Galnt6 |
T |
A |
15: 100,601,259 (GRCm39) |
Q340L |
probably benign |
Het |
| Gm20939 |
C |
T |
17: 95,184,522 (GRCm39) |
A390V |
probably damaging |
Het |
| Gm5435 |
T |
G |
12: 82,542,464 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9949 |
A |
C |
18: 62,317,089 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
G |
A |
7: 118,582,984 (GRCm39) |
T295I |
probably benign |
Het |
| Gria2 |
G |
T |
3: 80,598,704 (GRCm39) |
Q777K |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Haao |
T |
C |
17: 84,142,318 (GRCm39) |
T174A |
probably benign |
Het |
| Hes6 |
A |
T |
1: 91,340,858 (GRCm39) |
M1K |
probably null |
Het |
| Hook3 |
G |
T |
8: 26,600,780 (GRCm39) |
Q43K |
probably benign |
Het |
| Klhl35 |
T |
C |
7: 99,120,902 (GRCm39) |
V390A |
probably damaging |
Het |
| Myh9 |
G |
T |
15: 77,656,057 (GRCm39) |
T1151K |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,981,668 (GRCm39) |
I587F |
possibly damaging |
Het |
| Nek4 |
A |
G |
14: 30,704,408 (GRCm39) |
D696G |
probably damaging |
Het |
| Niban1 |
A |
T |
1: 151,591,424 (GRCm39) |
Y522F |
possibly damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,311,724 (GRCm39) |
D52G |
probably damaging |
Het |
| Oit3 |
G |
T |
10: 59,263,896 (GRCm39) |
R413S |
probably damaging |
Het |
| Or4k48 |
T |
A |
2: 111,476,027 (GRCm39) |
H105L |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,273,580 (GRCm39) |
M300V |
probably benign |
Het |
| Otof |
T |
C |
5: 30,528,349 (GRCm39) |
T1870A |
probably benign |
Het |
| Pdgfd |
T |
C |
9: 6,293,939 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
T |
C |
13: 6,613,506 (GRCm39) |
V526A |
possibly damaging |
Het |
| Pknox1 |
T |
C |
17: 31,814,256 (GRCm39) |
S194P |
probably damaging |
Het |
| Plekhg5 |
T |
C |
4: 152,181,266 (GRCm39) |
S8P |
probably benign |
Het |
| Ppp1r13b |
T |
C |
12: 111,807,416 (GRCm39) |
E157G |
probably damaging |
Het |
| Psmd3 |
C |
T |
11: 98,585,051 (GRCm39) |
R466W |
probably damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,967,967 (GRCm39) |
F542S |
possibly damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,135,214 (GRCm39) |
M393L |
possibly damaging |
Het |
| Qpct |
T |
A |
17: 79,371,492 (GRCm39) |
S87T |
probably benign |
Het |
| Qtrt1 |
T |
A |
9: 21,330,607 (GRCm39) |
V269D |
probably benign |
Het |
| Rassf9 |
C |
G |
10: 102,380,821 (GRCm39) |
R68G |
probably damaging |
Het |
| Relch |
A |
G |
1: 105,647,259 (GRCm39) |
Y707C |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,963,235 (GRCm39) |
E25G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,305,352 (GRCm39) |
F528L |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,823,457 (GRCm39) |
S693P |
probably benign |
Het |
| She |
A |
G |
3: 89,761,921 (GRCm39) |
D460G |
probably benign |
Het |
| Sipa1l1 |
G |
T |
12: 82,387,935 (GRCm39) |
V54L |
probably benign |
Het |
| Slc8a3 |
T |
A |
12: 81,251,781 (GRCm39) |
D640V |
possibly damaging |
Het |
| Smurf1 |
T |
A |
5: 144,819,323 (GRCm39) |
E601D |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Synpo2l |
A |
G |
14: 20,711,346 (GRCm39) |
S425P |
probably damaging |
Het |
| Tbck |
T |
C |
3: 132,421,454 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcf23 |
A |
T |
5: 31,126,175 (GRCm39) |
H18L |
probably benign |
Het |
| Tcp11l2 |
A |
G |
10: 84,420,808 (GRCm39) |
S16G |
probably damaging |
Het |
| Tekt2 |
T |
A |
4: 126,217,200 (GRCm39) |
M233L |
probably benign |
Het |
| Tex14 |
T |
C |
11: 87,427,634 (GRCm39) |
S29P |
probably damaging |
Het |
| Tjp2 |
T |
A |
19: 24,110,067 (GRCm39) |
N59I |
probably damaging |
Het |
| Tlr5 |
G |
A |
1: 182,802,575 (GRCm39) |
M626I |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,952,985 (GRCm39) |
V685D |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trhr |
G |
A |
15: 44,060,497 (GRCm39) |
V6I |
probably benign |
Het |
| Trim30c |
C |
T |
7: 104,032,158 (GRCm39) |
R301Q |
probably benign |
Het |
| Usp51 |
T |
C |
X: 151,790,988 (GRCm39) |
I194T |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,550 (GRCm39) |
S569P |
probably benign |
Het |
| Vps26a |
T |
G |
10: 62,300,459 (GRCm39) |
I236L |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,661,289 (GRCm39) |
P376L |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,330,718 (GRCm39) |
M882V |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,302,545 (GRCm39) |
V1813A |
probably benign |
Het |
| Zswim2 |
C |
T |
2: 83,745,626 (GRCm39) |
G604D |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,739,559 (GRCm39) |
Q669* |
probably null |
Het |
|
| Other mutations in Cacna1i |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Cacna1i
|
APN |
15 |
80,266,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00976:Cacna1i
|
APN |
15 |
80,239,846 (GRCm39) |
missense |
probably benign |
|
|
IGL01338:Cacna1i
|
APN |
15 |
80,232,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01589:Cacna1i
|
APN |
15 |
80,271,960 (GRCm39) |
splice site |
probably benign |
|
|
IGL01669:Cacna1i
|
APN |
15 |
80,275,958 (GRCm39) |
missense |
probably benign |
|
|
IGL01807:Cacna1i
|
APN |
15 |
80,258,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01911:Cacna1i
|
APN |
15 |
80,275,933 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01973:Cacna1i
|
APN |
15 |
80,266,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02205:Cacna1i
|
APN |
15 |
80,257,152 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02519:Cacna1i
|
APN |
15 |
80,246,075 (GRCm39) |
nonsense |
probably null |
|
|
IGL02648:Cacna1i
|
APN |
15 |
80,182,839 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03033:Cacna1i
|
APN |
15 |
80,246,440 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03214:Cacna1i
|
APN |
15 |
80,239,917 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0067:Cacna1i
|
UTSW |
15 |
80,265,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Cacna1i
|
UTSW |
15 |
80,265,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Cacna1i
|
UTSW |
15 |
80,240,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0345:Cacna1i
|
UTSW |
15 |
80,256,663 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0415:Cacna1i
|
UTSW |
15 |
80,253,031 (GRCm39) |
splice site |
probably benign |
|
|
R0637:Cacna1i
|
UTSW |
15 |
80,256,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0638:Cacna1i
|
UTSW |
15 |
80,265,281 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0840:Cacna1i
|
UTSW |
15 |
80,243,150 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1463:Cacna1i
|
UTSW |
15 |
80,263,255 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1528:Cacna1i
|
UTSW |
15 |
80,275,975 (GRCm39) |
splice site |
probably null |
|
|
R1563:Cacna1i
|
UTSW |
15 |
80,274,056 (GRCm39) |
splice site |
probably benign |
|
|
R1573:Cacna1i
|
UTSW |
15 |
80,277,869 (GRCm39) |
splice site |
probably null |
|
|
R1654:Cacna1i
|
UTSW |
15 |
80,273,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Cacna1i
|
UTSW |
15 |
80,255,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1794:Cacna1i
|
UTSW |
15 |
80,273,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Cacna1i
|
UTSW |
15 |
80,260,990 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1863:Cacna1i
|
UTSW |
15 |
80,243,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1885:Cacna1i
|
UTSW |
15 |
80,243,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1886:Cacna1i
|
UTSW |
15 |
80,243,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1899:Cacna1i
|
UTSW |
15 |
80,275,843 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1907:Cacna1i
|
UTSW |
15 |
80,259,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Cacna1i
|
UTSW |
15 |
80,279,245 (GRCm39) |
missense |
probably benign |
|
|
R2162:Cacna1i
|
UTSW |
15 |
80,240,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2888:Cacna1i
|
UTSW |
15 |
80,258,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3701:Cacna1i
|
UTSW |
15 |
80,265,272 (GRCm39) |
splice site |
probably benign |
|
|
R3702:Cacna1i
|
UTSW |
15 |
80,265,272 (GRCm39) |
splice site |
probably benign |
|
|
R3832:Cacna1i
|
UTSW |
15 |
80,240,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4852:Cacna1i
|
UTSW |
15 |
80,272,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4857:Cacna1i
|
UTSW |
15 |
80,253,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4950:Cacna1i
|
UTSW |
15 |
80,252,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Cacna1i
|
UTSW |
15 |
80,232,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5217:Cacna1i
|
UTSW |
15 |
80,275,041 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5437:Cacna1i
|
UTSW |
15 |
80,255,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5519:Cacna1i
|
UTSW |
15 |
80,255,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Cacna1i
|
UTSW |
15 |
80,279,279 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6217:Cacna1i
|
UTSW |
15 |
80,273,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6225:Cacna1i
|
UTSW |
15 |
80,205,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Cacna1i
|
UTSW |
15 |
80,220,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6463:Cacna1i
|
UTSW |
15 |
80,239,959 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6490:Cacna1i
|
UTSW |
15 |
80,262,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6613:Cacna1i
|
UTSW |
15 |
80,205,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6884:Cacna1i
|
UTSW |
15 |
80,259,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6904:Cacna1i
|
UTSW |
15 |
80,259,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7017:Cacna1i
|
UTSW |
15 |
80,264,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Cacna1i
|
UTSW |
15 |
80,279,439 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7274:Cacna1i
|
UTSW |
15 |
80,261,023 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7323:Cacna1i
|
UTSW |
15 |
80,275,854 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7335:Cacna1i
|
UTSW |
15 |
80,259,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Cacna1i
|
UTSW |
15 |
80,259,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Cacna1i
|
UTSW |
15 |
80,265,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7820:Cacna1i
|
UTSW |
15 |
80,256,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7987:Cacna1i
|
UTSW |
15 |
80,204,553 (GRCm39) |
splice site |
probably null |
|
|
R8150:Cacna1i
|
UTSW |
15 |
80,259,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8206:Cacna1i
|
UTSW |
15 |
80,274,016 (GRCm39) |
splice site |
probably null |
|
|
R8270:Cacna1i
|
UTSW |
15 |
80,257,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8382:Cacna1i
|
UTSW |
15 |
80,261,017 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8501:Cacna1i
|
UTSW |
15 |
80,266,247 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8518:Cacna1i
|
UTSW |
15 |
80,243,095 (GRCm39) |
nonsense |
probably null |
|
|
R8552:Cacna1i
|
UTSW |
15 |
80,204,598 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8679:Cacna1i
|
UTSW |
15 |
80,260,011 (GRCm39) |
intron |
probably benign |
|
|
R8696:Cacna1i
|
UTSW |
15 |
80,266,175 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8887:Cacna1i
|
UTSW |
15 |
80,258,894 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9274:Cacna1i
|
UTSW |
15 |
80,254,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Cacna1i
|
UTSW |
15 |
80,259,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9508:Cacna1i
|
UTSW |
15 |
80,279,372 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9518:Cacna1i
|
UTSW |
15 |
80,271,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Cacna1i
|
UTSW |
15 |
80,264,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Cacna1i
|
UTSW |
15 |
80,246,318 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9769:Cacna1i
|
UTSW |
15 |
80,253,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Cacna1i
|
UTSW |
15 |
80,246,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0024:Cacna1i
|
UTSW |
15 |
80,246,340 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0058:Cacna1i
|
UTSW |
15 |
80,263,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cacna1i
|
UTSW |
15 |
80,273,584 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Cacna1i
|
UTSW |
15 |
80,265,380 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAGAGCTAAAGCCATGAGCAG -3'
(R):5'- AACAGATGCTTACAGCGGCCAC -3'
Sequencing Primer
(F):5'- CAGAATGGGCTGTGGAACC -3'
(R):5'- GTCTTCTAGGGCCATCTACAGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation