Incidental Mutation 'R1885:Cacna1i'
| ID |
209489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1i
|
| Ensembl Gene |
ENSMUSG00000022416 |
| Gene Name |
calcium channel, voltage-dependent, alpha 1I subunit |
| Synonyms |
|
| MMRRC Submission |
039906-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1885 (G1)
|
| Quality Score |
184 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
80171439-80282480 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80243145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 434
(E434G)
|
| 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: E434G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: E434G
| 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: E434G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: E434G
| 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: 97.0%
- 3x: 96.1%
- 10x: 92.7%
- 20x: 85.1%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
T |
A |
9: 108,270,809 (GRCm39) |
D124E |
possibly damaging |
Het |
| Aarsd1 |
T |
C |
11: 101,302,227 (GRCm39) |
T278A |
probably benign |
Het |
| Acox2 |
C |
T |
14: 8,248,102 (GRCm38) |
M393I |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,398,377 (GRCm39) |
I1491M |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,184,951 (GRCm39) |
V209E |
probably damaging |
Het |
| Adora3 |
A |
C |
3: 105,812,152 (GRCm39) |
N13H |
possibly damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,281,561 (GRCm39) |
N822K |
probably damaging |
Het |
| Apobec3 |
A |
T |
15: 79,781,906 (GRCm39) |
H82L |
probably damaging |
Het |
| Atg9b |
A |
T |
5: 24,593,252 (GRCm39) |
W384R |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,904,661 (GRCm39) |
V506A |
possibly damaging |
Het |
| Atxn1 |
G |
T |
13: 45,721,280 (GRCm39) |
A205D |
probably benign |
Het |
| B4galnt3 |
T |
C |
6: 120,200,601 (GRCm39) |
E223G |
probably damaging |
Het |
| Brip1 |
C |
A |
11: 86,029,641 (GRCm39) |
G631V |
probably damaging |
Het |
| Caprin2 |
A |
T |
6: 148,779,383 (GRCm39) |
|
probably null |
Het |
| Cblif |
G |
A |
19: 11,729,688 (GRCm39) |
A216T |
probably benign |
Het |
| Ccdc80 |
A |
C |
16: 44,917,083 (GRCm39) |
D613A |
probably benign |
Het |
| Ccdc81 |
T |
C |
7: 89,515,819 (GRCm39) |
E620G |
possibly damaging |
Het |
| Cdhr18 |
A |
C |
14: 13,828,607 (GRCm38) |
Y718D |
probably damaging |
Het |
| Cebpz |
A |
T |
17: 79,239,545 (GRCm39) |
D625E |
probably benign |
Het |
| Coq6 |
C |
A |
12: 84,419,238 (GRCm39) |
N388K |
probably damaging |
Het |
| Cracd |
A |
G |
5: 77,004,589 (GRCm39) |
T317A |
unknown |
Het |
| D430041D05Rik |
T |
C |
2: 104,060,800 (GRCm39) |
M1365V |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dap3 |
A |
G |
3: 88,838,281 (GRCm39) |
L86P |
probably damaging |
Het |
| Dpysl4 |
T |
G |
7: 138,676,723 (GRCm39) |
V391G |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,854,144 (GRCm39) |
Q550K |
probably benign |
Het |
| Epas1 |
A |
G |
17: 87,112,723 (GRCm39) |
D107G |
probably damaging |
Het |
| Esrp2 |
A |
G |
8: 106,858,453 (GRCm39) |
V636A |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,748,795 (GRCm39) |
Y176N |
probably damaging |
Het |
| Etnppl |
T |
C |
3: 130,423,111 (GRCm39) |
V264A |
probably benign |
Het |
| Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
| Fer |
T |
A |
17: 64,445,909 (GRCm39) |
V790D |
probably damaging |
Het |
| Gdpd5 |
G |
A |
7: 99,109,204 (GRCm39) |
V575I |
probably benign |
Het |
| Gfus |
G |
T |
15: 75,798,838 (GRCm39) |
T123N |
possibly damaging |
Het |
| Gipc3 |
T |
C |
10: 81,177,181 (GRCm39) |
I130V |
probably benign |
Het |
| Iqsec3 |
G |
A |
6: 121,405,326 (GRCm39) |
|
probably benign |
Het |
| Kdm5d |
G |
T |
Y: 940,781 (GRCm39) |
|
probably null |
Het |
| Kl |
A |
G |
5: 150,876,959 (GRCm39) |
R260G |
possibly damaging |
Het |
| Kras |
T |
C |
6: 145,177,843 (GRCm39) |
E143G |
probably damaging |
Het |
| Ksr1 |
C |
A |
11: 78,911,204 (GRCm39) |
V11F |
probably null |
Het |
| Ksr1 |
T |
C |
11: 78,927,347 (GRCm39) |
T329A |
probably damaging |
Het |
| Marchf6 |
A |
G |
15: 31,502,952 (GRCm39) |
V83A |
probably benign |
Het |
| Mettl2 |
T |
C |
11: 105,022,446 (GRCm39) |
I212T |
possibly damaging |
Het |
| Mgat3 |
A |
G |
15: 80,095,820 (GRCm39) |
I216V |
probably benign |
Het |
| Mkrn3 |
G |
A |
7: 62,068,486 (GRCm39) |
A435V |
probably benign |
Het |
| Mlh1 |
C |
A |
9: 111,087,624 (GRCm39) |
S24I |
probably benign |
Het |
| Mmel1 |
G |
A |
4: 154,975,333 (GRCm39) |
R424Q |
possibly damaging |
Het |
| Mob3a |
G |
A |
10: 80,527,068 (GRCm39) |
Q86* |
probably null |
Het |
| Myh3 |
A |
G |
11: 66,977,453 (GRCm39) |
K368E |
probably benign |
Het |
| Myo16 |
T |
A |
8: 10,372,656 (GRCm39) |
N118K |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,157,043 (GRCm39) |
S160G |
probably damaging |
Het |
| Nat1 |
A |
T |
8: 67,943,653 (GRCm39) |
I13F |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,524,448 (GRCm39) |
N823S |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,431,622 (GRCm39) |
S1207P |
probably benign |
Het |
| Or2y17 |
T |
C |
11: 49,231,662 (GRCm39) |
L101P |
probably damaging |
Het |
| Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
| Or5p57 |
T |
C |
7: 107,665,985 (GRCm39) |
N7D |
probably benign |
Het |
| Or5w22 |
T |
C |
2: 87,363,168 (GRCm39) |
S264P |
probably damaging |
Het |
| Paqr8 |
A |
T |
1: 21,005,704 (GRCm39) |
H286L |
probably damaging |
Het |
| Pdzd4 |
G |
A |
X: 72,839,052 (GRCm39) |
R419C |
probably damaging |
Het |
| Pes1 |
A |
G |
11: 3,919,482 (GRCm39) |
K52E |
probably damaging |
Het |
| Ppp1r13l |
T |
C |
7: 19,111,496 (GRCm39) |
S774P |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,713,033 (GRCm39) |
D1283G |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,265,839 (GRCm39) |
V475A |
probably benign |
Het |
| Scml4 |
A |
G |
10: 42,788,223 (GRCm39) |
Y51C |
probably damaging |
Het |
| Skic3 |
A |
T |
13: 76,261,166 (GRCm39) |
R112S |
probably benign |
Het |
| Skic3 |
A |
G |
13: 76,278,354 (GRCm39) |
Q556R |
probably benign |
Het |
| Slc2a4 |
C |
T |
11: 69,835,833 (GRCm39) |
V339I |
probably benign |
Het |
| Slc39a6 |
G |
A |
18: 24,734,539 (GRCm39) |
|
probably null |
Het |
| Slco1b2 |
A |
T |
6: 141,628,951 (GRCm39) |
Y551F |
probably damaging |
Het |
| Snx33 |
T |
C |
9: 56,833,121 (GRCm39) |
H316R |
probably benign |
Het |
| Spata31d1a |
T |
G |
13: 59,849,821 (GRCm39) |
D769A |
probably damaging |
Het |
| Stmn2 |
A |
T |
3: 8,606,964 (GRCm39) |
E28V |
probably damaging |
Het |
| Syt9 |
A |
G |
7: 107,035,736 (GRCm39) |
D251G |
probably damaging |
Het |
| Tjap1 |
T |
C |
17: 46,573,347 (GRCm39) |
T37A |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,160,310 (GRCm39) |
F176I |
possibly damaging |
Het |
| Tprg1 |
A |
G |
16: 25,231,641 (GRCm39) |
T206A |
probably benign |
Het |
| Ubqlnl |
A |
T |
7: 103,799,272 (GRCm39) |
M75K |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmn2r12 |
C |
T |
5: 109,239,942 (GRCm39) |
G207E |
probably damaging |
Het |
| Xrn2 |
T |
G |
2: 146,891,281 (GRCm39) |
L697* |
probably null |
Het |
| Zfp764 |
A |
G |
7: 127,004,211 (GRCm39) |
F307L |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,820,376 (GRCm39) |
R860G |
probably damaging |
Het |
| Zranb2 |
A |
T |
3: 157,248,793 (GRCm39) |
|
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 |
|
|
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 |
|
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'- TGCATCGCTGATCTGTCCC -3'
(R):5'- GGCATGACCCACTTGCACTA -3'
Sequencing Primer
(F):5'- TGCTGGTTCTACCCCTCTG -3'
(R):5'- GCACTATTGCCATTCTGAGAC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation