Incidental Mutation 'R1863:Cacna1i'
| ID |
204159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1i
|
| Ensembl Gene |
ENSMUSG00000022416 |
| Gene Name |
calcium channel, voltage-dependent, alpha 1I subunit |
| Synonyms |
|
| MMRRC Submission |
039886-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1863 (G1)
|
| Quality Score |
187 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
80171439-80282480 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80243132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 430
(G430S)
|
| 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: G430S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: G430S
| 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 |
possibly damaging
Transcript: ENSMUST00000162155
AA Change: G430S
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: G430S
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.0%
- 20x: 90.8%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,527,746 (GRCm39) |
S1015T |
probably damaging |
Het |
| Adamts10 |
T |
A |
17: 33,770,406 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,711,685 (GRCm39) |
T1097I |
probably damaging |
Het |
| Apeh |
T |
C |
9: 107,969,302 (GRCm39) |
Y274C |
possibly damaging |
Het |
| Apobec3 |
A |
G |
15: 79,782,068 (GRCm39) |
D26G |
possibly damaging |
Het |
| Arg2 |
C |
T |
12: 79,196,794 (GRCm39) |
Q172* |
probably null |
Het |
| Asb18 |
C |
T |
1: 89,942,104 (GRCm39) |
V66I |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,449,802 (GRCm38) |
S1136P |
possibly damaging |
Het |
| Cadps |
A |
G |
14: 12,505,796 (GRCm38) |
V758A |
probably benign |
Het |
| Calhm3 |
A |
G |
19: 47,140,539 (GRCm39) |
W185R |
probably damaging |
Het |
| Car5b |
T |
C |
X: 162,774,369 (GRCm39) |
D146G |
probably damaging |
Het |
| Card10 |
G |
A |
15: 78,664,714 (GRCm39) |
R747W |
probably damaging |
Het |
| Cd300lg |
T |
G |
11: 101,932,430 (GRCm39) |
V5G |
probably damaging |
Het |
| Cd46 |
C |
A |
1: 194,765,931 (GRCm39) |
G145C |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,078,988 (GRCm39) |
S433P |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,008,131 (GRCm39) |
E182K |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,817,400 (GRCm39) |
M304L |
unknown |
Het |
| Cplane1 |
A |
G |
15: 8,258,077 (GRCm39) |
I2108V |
probably benign |
Het |
| Cpxm2 |
C |
T |
7: 131,745,392 (GRCm39) |
|
probably null |
Het |
| Dbf4 |
G |
A |
5: 8,447,375 (GRCm39) |
Q612* |
probably null |
Het |
| Dnah11 |
G |
C |
12: 118,027,587 (GRCm39) |
Q1835E |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,767,882 (GRCm39) |
N1140K |
probably benign |
Het |
| Eps8l1 |
C |
A |
7: 4,468,359 (GRCm39) |
|
probably benign |
Het |
| Fbxl21 |
A |
T |
13: 56,674,876 (GRCm39) |
I76L |
probably benign |
Het |
| Gcnt2 |
A |
T |
13: 41,014,577 (GRCm39) |
K249N |
possibly damaging |
Het |
| Gm5819 |
A |
G |
18: 8,694,179 (GRCm39) |
T35A |
probably benign |
Het |
| Gm8180 |
T |
C |
14: 44,021,139 (GRCm39) |
E23G |
probably benign |
Het |
| Gorab |
A |
G |
1: 163,231,131 (GRCm39) |
F8L |
probably damaging |
Het |
| Hlf |
A |
G |
11: 90,231,652 (GRCm39) |
L274S |
probably damaging |
Het |
| Il15ra |
T |
A |
2: 11,728,247 (GRCm39) |
S137T |
possibly damaging |
Het |
| Krt78 |
A |
T |
15: 101,855,004 (GRCm39) |
C936S |
possibly damaging |
Het |
| Lamb2 |
T |
C |
9: 108,358,583 (GRCm39) |
S207P |
probably benign |
Het |
| Lce1a1 |
T |
C |
3: 92,554,118 (GRCm39) |
S119G |
unknown |
Het |
| Lipo3 |
A |
G |
19: 33,762,092 (GRCm39) |
F135S |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,328,708 (GRCm39) |
L1536Q |
probably benign |
Het |
| Lrrc25 |
T |
C |
8: 71,070,596 (GRCm39) |
S126P |
possibly damaging |
Het |
| Mbd3l2 |
T |
C |
9: 18,356,217 (GRCm39) |
S181P |
possibly damaging |
Het |
| Msantd5f6 |
A |
T |
4: 73,320,037 (GRCm39) |
Y247* |
probably null |
Het |
| Mss51 |
C |
T |
14: 20,534,936 (GRCm39) |
R278H |
probably damaging |
Het |
| Myom3 |
G |
A |
4: 135,505,348 (GRCm39) |
M412I |
probably benign |
Het |
| Naa25 |
T |
C |
5: 121,573,611 (GRCm39) |
V780A |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,437,067 (GRCm39) |
F485L |
probably benign |
Het |
| Notch1 |
T |
C |
2: 26,359,962 (GRCm39) |
Y1251C |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,115,609 (GRCm39) |
N826D |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or2t47 |
T |
C |
11: 58,442,849 (GRCm39) |
Y72C |
probably benign |
Het |
| Or4a74 |
A |
T |
2: 89,440,053 (GRCm39) |
L131* |
probably null |
Het |
| Or4c35 |
A |
T |
2: 89,808,754 (GRCm39) |
I211F |
probably benign |
Het |
| Or5p57 |
A |
C |
7: 107,665,932 (GRCm39) |
Y24* |
probably null |
Het |
| Or6c66 |
T |
C |
10: 129,461,217 (GRCm39) |
T238A |
probably damaging |
Het |
| Or8c8 |
T |
G |
9: 38,165,016 (GRCm39) |
M101R |
probably damaging |
Het |
| Or8s16 |
G |
T |
15: 98,211,372 (GRCm39) |
Q20K |
probably benign |
Het |
| Osbpl6 |
G |
A |
2: 76,415,402 (GRCm39) |
R588H |
probably damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,164 (GRCm39) |
D318V |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,545,525 (GRCm39) |
E1162V |
probably damaging |
Het |
| Pde2a |
G |
A |
7: 101,160,361 (GRCm39) |
R845H |
probably damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,621,244 (GRCm39) |
R805S |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,905,844 (GRCm39) |
K1484E |
possibly damaging |
Het |
| Pramel7 |
T |
C |
2: 87,321,675 (GRCm39) |
E120G |
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,336,420 (GRCm39) |
D60V |
probably damaging |
Het |
| Prpf6 |
T |
A |
2: 181,249,967 (GRCm39) |
D42E |
possibly damaging |
Het |
| Rbm5 |
C |
T |
9: 107,627,718 (GRCm39) |
V408I |
possibly damaging |
Het |
| Rsrp1 |
G |
T |
4: 134,651,388 (GRCm39) |
D51Y |
unknown |
Het |
| Sec22a |
A |
G |
16: 35,168,088 (GRCm39) |
M141T |
probably damaging |
Het |
| Spryd3 |
A |
G |
15: 102,026,094 (GRCm39) |
S417P |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,782,713 (GRCm39) |
M550V |
possibly damaging |
Het |
| Sugt1 |
C |
T |
14: 79,846,434 (GRCm39) |
T157I |
probably damaging |
Het |
| Syne4 |
T |
C |
7: 30,016,308 (GRCm39) |
V168A |
probably benign |
Het |
| Tas2r122 |
A |
T |
6: 132,688,065 (GRCm39) |
L276* |
probably null |
Het |
| Tbc1d14 |
G |
A |
5: 36,665,037 (GRCm39) |
S231F |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,729,381 (GRCm39) |
I1526F |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,966,139 (GRCm39) |
C505Y |
probably damaging |
Het |
| Thop1 |
T |
C |
10: 80,909,151 (GRCm39) |
Y61H |
probably damaging |
Het |
| Ticam1 |
G |
A |
17: 56,578,436 (GRCm39) |
H220Y |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,427,755 (GRCm39) |
D500G |
possibly damaging |
Het |
| Tm6sf2 |
T |
A |
8: 70,532,375 (GRCm39) |
L345Q |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,889,848 (GRCm39) |
C114R |
probably damaging |
Het |
| Topors |
G |
T |
4: 40,262,149 (GRCm39) |
C378* |
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,760,881 (GRCm39) |
G1544R |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,314,410 (GRCm39) |
N190K |
probably benign |
Het |
| Wdr70 |
C |
A |
15: 7,950,054 (GRCm39) |
V447F |
probably benign |
Het |
| Xpa |
A |
G |
4: 46,155,730 (GRCm39) |
|
probably benign |
Het |
| Xrcc1 |
T |
C |
7: 24,270,000 (GRCm39) |
S474P |
possibly damaging |
Het |
| Zfp658 |
T |
G |
7: 43,223,323 (GRCm39) |
F533V |
possibly damaging |
Het |
| Zfp799 |
G |
A |
17: 33,038,374 (GRCm39) |
H631Y |
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 |
|
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'- GTACCCTGGTTGTCCTCTGT -3'
(R):5'- GAGTCAAGGCCACTTACTGC -3'
Sequencing Primer
(F):5'- TGCATCGCTGATCTGTCC -3'
(R):5'- CACTTACTGCAGTGGCTGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation