Incidental Mutation 'R4852:Cacna1i'
| ID |
373667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1i
|
| Ensembl Gene |
ENSMUSG00000022416 |
| Gene Name |
calcium channel, voltage-dependent, alpha 1I subunit |
| Synonyms |
|
| MMRRC Submission |
042464-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4852 (G1)
|
| Quality Score |
183 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
80171439-80282480 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80272680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1631
(F1631L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160424]
[ENSMUST00000162155]
|
| AlphaFold |
E9Q7P2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160175
|
| SMART Domains |
Protein: ENSMUSP00000123881
Gene: ENSMUSG00000022416
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160424
AA Change: F1631L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: F1631L
| 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: ENSMUST00000161863
|
| SMART Domains |
Protein: ENSMUSP00000124367
Gene: ENSMUSG00000022416
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162025
|
| SMART Domains |
Protein: ENSMUSP00000125530
Gene: ENSMUSG00000022416
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
103 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162155
AA Change: F1631L
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: F1631L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162913
|
| SMART Domains |
Protein: ENSMUSP00000125617
Gene: ENSMUSG00000022416
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.0%
|
| 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 |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4921524L21Rik |
C |
G |
18: 6,623,487 (GRCm39) |
L66V |
possibly damaging |
Het |
| 4921524L21Rik |
T |
A |
18: 6,623,488 (GRCm39) |
L66Q |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,135,029 (GRCm39) |
V252A |
probably benign |
Het |
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Acap1 |
C |
T |
11: 69,775,202 (GRCm39) |
V354M |
probably benign |
Het |
| Accs |
T |
C |
2: 93,674,605 (GRCm39) |
D99G |
probably damaging |
Het |
| Adam9 |
T |
C |
8: 25,493,317 (GRCm39) |
Y97C |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,151,458 (GRCm39) |
V1174A |
probably damaging |
Het |
| Aknad1 |
C |
A |
3: 108,659,056 (GRCm39) |
D23E |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 125,959,886 (GRCm39) |
C666R |
possibly damaging |
Het |
| Atp4a |
G |
A |
7: 30,423,693 (GRCm39) |
A933T |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,952,474 (GRCm39) |
L224P |
probably damaging |
Het |
| Bin2 |
T |
C |
15: 100,543,169 (GRCm39) |
E338G |
probably damaging |
Het |
| Bloc1s5 |
T |
C |
13: 38,818,960 (GRCm39) |
K20E |
probably damaging |
Het |
| Bst1 |
A |
T |
5: 43,977,867 (GRCm39) |
D72V |
probably benign |
Het |
| Capn13 |
GCA |
G |
17: 73,658,501 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
A |
G |
19: 47,885,550 (GRCm39) |
I355T |
possibly damaging |
Het |
| Chuk |
A |
T |
19: 44,077,197 (GRCm39) |
M383K |
possibly damaging |
Het |
| Cnga4 |
A |
G |
7: 105,054,937 (GRCm39) |
I174V |
probably benign |
Het |
| Cpd |
T |
C |
11: 76,675,976 (GRCm39) |
K1226E |
probably benign |
Het |
| Crip2 |
T |
C |
12: 113,104,204 (GRCm39) |
C5R |
probably damaging |
Het |
| Cyp3a11 |
T |
A |
5: 145,797,305 (GRCm39) |
D358V |
probably damaging |
Het |
| Ebag9 |
T |
C |
15: 44,487,915 (GRCm39) |
F21S |
probably damaging |
Het |
| Ercc1 |
A |
T |
7: 19,084,629 (GRCm39) |
H70L |
probably damaging |
Het |
| Exoc3 |
G |
A |
13: 74,347,764 (GRCm39) |
R69C |
probably damaging |
Het |
| Fgfr4 |
A |
T |
13: 55,308,969 (GRCm39) |
R363S |
possibly damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm7489 |
T |
A |
15: 53,749,434 (GRCm39) |
|
probably benign |
Het |
| Gphn |
G |
A |
12: 78,673,984 (GRCm39) |
V526M |
probably damaging |
Het |
| Gpr152 |
G |
A |
19: 4,193,790 (GRCm39) |
V444I |
probably benign |
Het |
| Gss |
T |
C |
2: 155,406,785 (GRCm39) |
E330G |
probably benign |
Het |
| Hbs1l |
A |
G |
10: 21,234,287 (GRCm39) |
D556G |
possibly damaging |
Het |
| Helz2 |
T |
C |
2: 180,871,913 (GRCm39) |
T2619A |
probably damaging |
Het |
| Hk3 |
A |
G |
13: 55,160,409 (GRCm39) |
F304L |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,797,702 (GRCm39) |
N906Y |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,710,465 (GRCm39) |
E246G |
probably damaging |
Het |
| L3mbtl4 |
A |
T |
17: 68,866,748 (GRCm39) |
H329L |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,485,827 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
C |
8: 10,423,474 (GRCm39) |
L270P |
probably damaging |
Het |
| Naa25 |
T |
C |
5: 121,568,755 (GRCm39) |
S606P |
probably damaging |
Het |
| Nags |
T |
A |
11: 102,037,447 (GRCm39) |
C179* |
probably null |
Het |
| Naip2 |
A |
G |
13: 100,298,044 (GRCm39) |
M664T |
probably benign |
Het |
| Ndufv3 |
T |
C |
17: 31,747,043 (GRCm39) |
I311T |
probably benign |
Het |
| Nipsnap1 |
G |
T |
11: 4,841,468 (GRCm39) |
E258* |
probably null |
Het |
| Nudc |
A |
G |
4: 133,261,660 (GRCm39) |
L208P |
probably damaging |
Het |
| Or1e32 |
T |
C |
11: 73,705,074 (GRCm39) |
Y278C |
probably benign |
Het |
| Or51a39 |
A |
T |
7: 102,362,750 (GRCm39) |
V290E |
probably damaging |
Het |
| Oscp1 |
A |
G |
4: 125,970,652 (GRCm39) |
D137G |
possibly damaging |
Het |
| Pcdhb5 |
C |
T |
18: 37,455,524 (GRCm39) |
P635S |
probably benign |
Het |
| Pcdhgb2 |
T |
A |
18: 37,825,103 (GRCm39) |
I698N |
probably damaging |
Het |
| Pde4b |
A |
G |
4: 102,454,967 (GRCm39) |
Y399C |
probably damaging |
Het |
| Pdf |
A |
T |
8: 107,774,812 (GRCm39) |
V140E |
probably damaging |
Het |
| Pglyrp2 |
T |
C |
17: 32,634,823 (GRCm39) |
N513S |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,312,878 (GRCm39) |
D1199E |
possibly damaging |
Het |
| Rell2 |
G |
T |
18: 38,089,621 (GRCm39) |
|
probably null |
Het |
| Rgl2 |
A |
G |
17: 34,156,147 (GRCm39) |
H745R |
probably benign |
Het |
| Rnf121 |
A |
G |
7: 101,672,592 (GRCm39) |
C264R |
probably damaging |
Het |
| Rnf181 |
A |
G |
6: 72,338,499 (GRCm39) |
F3S |
probably damaging |
Het |
| Rsrc1 |
T |
A |
3: 67,262,935 (GRCm39) |
D296E |
probably damaging |
Het |
| Rubcn |
A |
T |
16: 32,663,678 (GRCm39) |
D319E |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,228,494 (GRCm39) |
S431P |
unknown |
Het |
| Septin11 |
T |
A |
5: 93,310,112 (GRCm39) |
M305K |
possibly damaging |
Het |
| Serpinb12 |
A |
G |
1: 106,884,132 (GRCm39) |
K293E |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,788,538 (GRCm39) |
H229Q |
probably benign |
Het |
| Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
| Specc1 |
T |
A |
11: 62,102,510 (GRCm39) |
V952E |
probably damaging |
Het |
| Spint2 |
G |
A |
7: 28,956,211 (GRCm39) |
T158I |
probably benign |
Het |
| St8sia4 |
A |
T |
1: 95,588,623 (GRCm39) |
W71R |
probably damaging |
Het |
| Tex48 |
C |
T |
4: 63,530,151 (GRCm39) |
V23I |
possibly damaging |
Het |
| Tmc5 |
G |
A |
7: 118,244,562 (GRCm39) |
G480D |
probably benign |
Het |
| Tmem8b |
T |
A |
4: 43,689,713 (GRCm39) |
M330K |
probably damaging |
Het |
| Tnrc18 |
C |
T |
5: 142,717,095 (GRCm39) |
R2453Q |
probably damaging |
Het |
| Trank1 |
A |
T |
9: 111,220,963 (GRCm39) |
N2567Y |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,709,705 (GRCm39) |
D211G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,555,503 (GRCm39) |
R30501G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,573,247 (GRCm39) |
Y25882F |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,139,725 (GRCm39) |
V2495E |
probably damaging |
Het |
| Uqcr10 |
T |
A |
11: 4,652,198 (GRCm39) |
H58L |
possibly damaging |
Het |
| Usp7 |
A |
T |
16: 8,574,708 (GRCm39) |
C58* |
probably null |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,872 (GRCm39) |
M1K |
probably null |
Het |
| Wdr7 |
T |
A |
18: 63,911,020 (GRCm39) |
M804K |
probably damaging |
Het |
| Zfp131 |
A |
C |
13: 120,250,394 (GRCm39) |
|
probably null |
Het |
| Zfp507 |
A |
G |
7: 35,493,480 (GRCm39) |
V521A |
probably benign |
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 |
|
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'- CAGTCCACATACACTGTTGAGG -3'
(R):5'- CAGCTGCTTTTCTGGCCAAC -3'
Sequencing Primer
(F):5'- CCACATACACTGTTGAGGGTTGTAG -3'
(R):5'- CCAAAGTTCTGCAAGGAGGTCC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation