Incidental Mutation 'R8696:Cacna1i'
| ID |
668736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1i
|
| Ensembl Gene |
ENSMUSG00000022416 |
| Gene Name |
calcium channel, voltage-dependent, alpha 1I subunit |
| Synonyms |
|
| MMRRC Submission |
068550-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8696 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
80171439-80282480 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80266175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1554
(V1554A)
|
| 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: V1554A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: V1554A
| 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 damaging
Transcript: ENSMUST00000162155
AA Change: V1554A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: V1554A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
C |
15: 64,687,235 (GRCm39) |
N423S |
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,248,344 (GRCm39) |
L672P |
probably damaging |
Het |
| Akr1b10 |
C |
T |
6: 34,369,067 (GRCm39) |
T182I |
possibly damaging |
Het |
| Ankrd33 |
A |
G |
15: 101,014,864 (GRCm39) |
I84V |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,159,799 (GRCm39) |
Y272C |
possibly damaging |
Het |
| Arid4a |
T |
C |
12: 71,110,090 (GRCm39) |
S144P |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,415,285 (GRCm39) |
D666G |
probably damaging |
Het |
| Blk |
A |
T |
14: 63,618,149 (GRCm39) |
|
probably benign |
Het |
| Btbd2 |
C |
T |
10: 80,480,515 (GRCm39) |
R366Q |
possibly damaging |
Het |
| Camsap3 |
T |
C |
8: 3,653,614 (GRCm39) |
L428P |
probably damaging |
Het |
| Ccdc30 |
T |
G |
4: 119,234,505 (GRCm39) |
Y69S |
possibly damaging |
Het |
| Ccdc7a |
T |
A |
8: 129,715,244 (GRCm39) |
E280V |
probably damaging |
Het |
| Cdk11b |
T |
C |
4: 155,732,779 (GRCm39) |
V539A |
unknown |
Het |
| Ceacam3 |
A |
T |
7: 16,893,937 (GRCm39) |
N483Y |
|
Het |
| Cenpf |
C |
T |
1: 189,390,194 (GRCm39) |
A1213T |
probably benign |
Het |
| Chrna6 |
G |
T |
8: 27,897,195 (GRCm39) |
Y227* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,601,294 (GRCm39) |
D814V |
probably damaging |
Het |
| Csl |
A |
T |
10: 99,594,826 (GRCm39) |
Y80N |
probably damaging |
Het |
| Ctsm |
A |
G |
13: 61,685,521 (GRCm39) |
L297P |
probably damaging |
Het |
| Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,623,958 (GRCm39) |
V31A |
unknown |
Het |
| Dis3l2 |
G |
T |
1: 86,719,162 (GRCm39) |
G131* |
probably null |
Het |
| Dkk1 |
G |
A |
19: 30,526,688 (GRCm39) |
A31V |
probably damaging |
Het |
| Dlx3 |
C |
T |
11: 95,012,596 (GRCm39) |
R130* |
probably null |
Het |
| Dnajc24 |
T |
C |
2: 105,832,315 (GRCm39) |
M23V |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,862,662 (GRCm39) |
N76I |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,100,305 (GRCm39) |
N226S |
probably benign |
Het |
| Fabp9 |
C |
T |
3: 10,259,047 (GRCm39) |
V120M |
possibly damaging |
Het |
| Fcrlb |
A |
G |
1: 170,739,648 (GRCm39) |
C85R |
probably damaging |
Het |
| Gnai2 |
A |
C |
9: 107,496,968 (GRCm39) |
L131R |
|
Het |
| Gprin1 |
A |
G |
13: 54,885,764 (GRCm39) |
W837R |
probably damaging |
Het |
| Grm3 |
C |
T |
5: 9,562,311 (GRCm39) |
C513Y |
probably damaging |
Het |
| H60c |
T |
A |
10: 3,210,265 (GRCm39) |
I95F |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,531,743 (GRCm39) |
V177A |
possibly damaging |
Het |
| Herc6 |
T |
A |
6: 57,624,134 (GRCm39) |
C635S |
probably benign |
Het |
| Itga4 |
A |
T |
2: 79,112,125 (GRCm39) |
M347L |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,914,752 (GRCm39) |
H436R |
probably benign |
Het |
| Klrg2 |
G |
T |
6: 38,613,430 (GRCm39) |
P191Q |
possibly damaging |
Het |
| Krt5 |
A |
G |
15: 101,618,742 (GRCm39) |
Y340H |
probably damaging |
Het |
| Map9 |
T |
A |
3: 82,270,668 (GRCm39) |
H77Q |
possibly damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,356,557 (GRCm39) |
T221A |
probably benign |
Het |
| Myo10 |
C |
G |
15: 25,799,572 (GRCm39) |
H1378Q |
probably damaging |
Het |
| Nkx6-1 |
T |
C |
5: 101,807,513 (GRCm39) |
T290A |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Notch1 |
T |
A |
2: 26,368,004 (GRCm39) |
|
probably benign |
Het |
| Nr1d2 |
A |
T |
14: 18,216,661 (GRCm38) |
M169K |
probably damaging |
Het |
| Or10ak8 |
C |
T |
4: 118,774,635 (GRCm39) |
V10I |
probably benign |
Het |
| Or11g1 |
A |
G |
14: 50,651,420 (GRCm39) |
M140V |
possibly damaging |
Het |
| Or13c7c |
A |
G |
4: 43,836,193 (GRCm39) |
V99A |
probably benign |
Het |
| Or6c69b |
A |
T |
10: 129,626,562 (GRCm39) |
F299I |
possibly damaging |
Het |
| Or8b41 |
A |
G |
9: 38,054,433 (GRCm39) |
M1V |
probably null |
Het |
| Pdia6 |
T |
A |
12: 17,329,662 (GRCm39) |
I266K |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,091,105 (GRCm39) |
|
probably null |
Het |
| Polr1b |
T |
A |
2: 128,967,571 (GRCm39) |
L988Q |
probably damaging |
Het |
| Por |
A |
T |
5: 135,763,112 (GRCm39) |
M541L |
probably benign |
Het |
| Ppid |
T |
C |
3: 79,498,689 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
A |
T |
6: 132,577,322 (GRCm39) |
Q203L |
unknown |
Het |
| Psme4 |
T |
G |
11: 30,759,896 (GRCm39) |
F340V |
probably damaging |
Het |
| Ptges2 |
T |
C |
2: 32,290,077 (GRCm39) |
S164P |
probably damaging |
Het |
| Rab18 |
G |
A |
18: 6,788,635 (GRCm39) |
G201S |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,265,132 (GRCm39) |
E391G |
probably damaging |
Het |
| Rcbtb2 |
T |
G |
14: 73,404,305 (GRCm39) |
V259G |
probably damaging |
Het |
| Rpn1 |
C |
A |
6: 88,080,359 (GRCm39) |
Q553K |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,609,459 (GRCm39) |
S697P |
probably damaging |
Het |
| Sdad1 |
T |
G |
5: 92,437,645 (GRCm39) |
H603P |
probably damaging |
Het |
| Serpini1 |
T |
C |
3: 75,520,544 (GRCm39) |
L47P |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,248,686 (GRCm39) |
S646T |
possibly damaging |
Het |
| Spdye4a |
T |
A |
5: 143,210,754 (GRCm39) |
E105D |
probably benign |
Het |
| Srsf12 |
G |
A |
4: 33,231,181 (GRCm39) |
C230Y |
possibly damaging |
Het |
| Stard9 |
A |
T |
2: 120,531,595 (GRCm39) |
R2617S |
probably benign |
Het |
| Tas2r118 |
G |
T |
6: 23,969,344 (GRCm39) |
T239K |
probably damaging |
Het |
| Tlr1 |
A |
G |
5: 65,084,094 (GRCm39) |
L161P |
probably benign |
Het |
| Ttc21a |
T |
G |
9: 119,772,977 (GRCm39) |
V218G |
possibly damaging |
Het |
| Ttc6 |
T |
C |
12: 57,784,492 (GRCm39) |
S1854P |
probably benign |
Het |
| Unc93a |
A |
G |
17: 13,341,852 (GRCm39) |
L93P |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,839,217 (GRCm39) |
I2109N |
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,723,419 (GRCm39) |
S287C |
probably damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,847,321 (GRCm39) |
F55S |
probably damaging |
Het |
| Zfp772 |
T |
C |
7: 7,208,518 (GRCm39) |
T109A |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 74,520,599 (GRCm39) |
Y160H |
probably damaging |
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 |
|
|
R1563:Cacna1i
|
UTSW |
15 |
80,205,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
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'- TTTCAAAACTCTTACTGCCACAGC -3'
(R):5'- GGTTCAAACAACTCCCCAGG -3'
Sequencing Primer
(F):5'- TGGGATTGAACTCAGGACCTC -3'
(R):5'- ACTCCCCAGGGAAGAGACTGTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation