Incidental Mutation 'R1654:Cacna1i'
| ID |
188972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1i
|
| Ensembl Gene |
ENSMUSG00000022416 |
| Gene Name |
calcium channel, voltage-dependent, alpha 1I subunit |
| Synonyms |
|
| MMRRC Submission |
039690-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1654 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
80171439-80282480 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 80273411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 1699
(A1699D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125229
(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 |
possibly damaging
Transcript: ENSMUST00000160424
AA Change: A1699D
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: A1699D
| 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 |
probably damaging
Transcript: ENSMUST00000162155
AA Change: A1699D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: A1699D
| 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: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
C |
T |
11: 109,688,225 (GRCm39) |
S90N |
probably benign |
Het |
| Apc2 |
C |
T |
10: 80,137,676 (GRCm39) |
T39I |
possibly damaging |
Het |
| Arfgef3 |
C |
T |
10: 18,500,896 (GRCm39) |
R1118K |
probably null |
Het |
| Arhgef12 |
T |
C |
9: 42,908,956 (GRCm39) |
D658G |
possibly damaging |
Het |
| Asph |
G |
T |
4: 9,453,315 (GRCm39) |
R736S |
probably benign |
Het |
| Bcas1 |
C |
T |
2: 170,191,166 (GRCm39) |
G542E |
probably damaging |
Het |
| Brd8 |
A |
T |
18: 34,744,279 (GRCm39) |
V183E |
probably damaging |
Het |
| C1rl |
G |
A |
6: 124,470,869 (GRCm39) |
G59E |
probably damaging |
Het |
| Card6 |
G |
T |
15: 5,128,214 (GRCm39) |
Q1061K |
probably benign |
Het |
| Cd163 |
G |
T |
6: 124,294,540 (GRCm39) |
C566F |
probably damaging |
Het |
| Cd84 |
C |
T |
1: 171,712,173 (GRCm39) |
T263I |
possibly damaging |
Het |
| Cep63 |
T |
C |
9: 102,464,112 (GRCm39) |
I740V |
possibly damaging |
Het |
| Chaf1b |
C |
A |
16: 93,691,791 (GRCm39) |
A279D |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,309,488 (GRCm39) |
Y247F |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,235,466 (GRCm39) |
L509F |
possibly damaging |
Het |
| Disc1 |
A |
T |
8: 125,875,204 (GRCm39) |
Q558L |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,525,672 (GRCm39) |
L3894Q |
probably damaging |
Het |
| Dnmt1 |
G |
T |
9: 20,847,870 (GRCm39) |
T105N |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,716,139 (GRCm39) |
L1732Q |
probably damaging |
Het |
| Dsc2 |
T |
C |
18: 20,179,303 (GRCm39) |
N255S |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,790,242 (GRCm39) |
Y98N |
probably damaging |
Het |
| Enox1 |
T |
A |
14: 77,848,814 (GRCm39) |
I375N |
possibly damaging |
Het |
| Epha4 |
T |
A |
1: 77,351,405 (GRCm39) |
|
probably null |
Het |
| Fktn |
A |
G |
4: 53,761,220 (GRCm39) |
I446V |
probably benign |
Het |
| Garin4 |
T |
C |
1: 190,895,678 (GRCm39) |
R322G |
probably benign |
Het |
| Gm7361 |
G |
T |
5: 26,466,097 (GRCm39) |
R153L |
probably damaging |
Het |
| Grin2c |
C |
T |
11: 115,151,679 (GRCm39) |
V94I |
probably benign |
Het |
| Kalrn |
T |
G |
16: 33,796,108 (GRCm39) |
L1222F |
probably damaging |
Het |
| Krt80 |
T |
C |
15: 101,249,590 (GRCm39) |
K255E |
probably damaging |
Het |
| Lcn6 |
T |
A |
2: 25,570,787 (GRCm39) |
|
probably null |
Het |
| Lonp2 |
T |
G |
8: 87,358,078 (GRCm39) |
L100V |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,912 (GRCm39) |
A482T |
probably damaging |
Het |
| Mapk4 |
A |
G |
18: 74,064,010 (GRCm39) |
F404S |
probably damaging |
Het |
| Mast2 |
T |
C |
4: 116,173,747 (GRCm39) |
|
probably null |
Het |
| Medag |
T |
C |
5: 149,345,600 (GRCm39) |
Y94H |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,037,911 (GRCm39) |
L809P |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,734,421 (GRCm39) |
S743P |
probably damaging |
Het |
| Mia2 |
C |
A |
12: 59,155,619 (GRCm39) |
T445K |
possibly damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,022,931 (GRCm39) |
|
probably null |
Het |
| Nars1 |
C |
G |
18: 64,645,120 (GRCm39) |
A43P |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,984 (GRCm39) |
N431S |
possibly damaging |
Het |
| Ndufaf5 |
A |
G |
2: 140,019,220 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
T |
G |
11: 71,072,124 (GRCm39) |
E573A |
probably damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,433,949 (GRCm39) |
V4A |
probably benign |
Het |
| Or2y1d |
G |
A |
11: 49,321,329 (GRCm39) |
G9R |
probably benign |
Het |
| Or56b2 |
A |
T |
7: 104,337,420 (GRCm39) |
Y66F |
probably benign |
Het |
| Or5ac15 |
T |
C |
16: 58,940,052 (GRCm39) |
N127S |
possibly damaging |
Het |
| Pcdhb12 |
A |
T |
18: 37,569,754 (GRCm39) |
D300V |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,968,083 (GRCm39) |
C804S |
probably benign |
Het |
| Pkp4 |
A |
T |
2: 59,167,963 (GRCm39) |
Q725L |
probably damaging |
Het |
| Ptpre |
T |
A |
7: 135,255,657 (GRCm39) |
S119T |
probably benign |
Het |
| Ptprk |
G |
A |
10: 28,259,643 (GRCm39) |
R361H |
probably damaging |
Het |
| Ptprr |
T |
C |
10: 116,024,268 (GRCm39) |
V193A |
probably benign |
Het |
| Rfx2 |
C |
T |
17: 57,115,263 (GRCm39) |
A19T |
probably benign |
Het |
| Rgs4 |
T |
A |
1: 169,572,880 (GRCm39) |
M19L |
probably benign |
Het |
| Rnf157 |
T |
C |
11: 116,249,541 (GRCm39) |
H225R |
probably damaging |
Het |
| Rnf44 |
A |
T |
13: 54,829,592 (GRCm39) |
D341E |
possibly damaging |
Het |
| Sct |
T |
A |
7: 140,858,767 (GRCm39) |
Q55L |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,814,779 (GRCm39) |
H446L |
possibly damaging |
Het |
| Shisa3 |
A |
T |
5: 67,768,402 (GRCm39) |
I101F |
probably damaging |
Het |
| Slc6a13 |
A |
G |
6: 121,313,885 (GRCm39) |
I543V |
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,634,738 (GRCm39) |
A1024V |
probably damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,509,521 (GRCm39) |
S330P |
probably damaging |
Het |
| Stard9 |
G |
T |
2: 120,534,203 (GRCm39) |
A3487S |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,632,532 (GRCm39) |
S46G |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,147,868 (GRCm39) |
V6469A |
possibly damaging |
Het |
| Tada2b |
C |
T |
5: 36,641,139 (GRCm39) |
G88D |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,570,937 (GRCm39) |
|
probably null |
Het |
| Tph2 |
T |
A |
10: 115,020,712 (GRCm39) |
H28L |
probably benign |
Het |
| Trmt6 |
C |
A |
2: 132,657,755 (GRCm39) |
V34L |
possibly damaging |
Het |
| Ttc22 |
A |
G |
4: 106,491,408 (GRCm39) |
T204A |
probably damaging |
Het |
| Umodl1 |
A |
T |
17: 31,206,942 (GRCm39) |
M778L |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,810,065 (GRCm39) |
H2282R |
probably damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,461,123 (GRCm39) |
S816R |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,858,969 (GRCm39) |
F2806L |
probably damaging |
Het |
| Zbtb4 |
C |
A |
11: 69,669,995 (GRCm39) |
A906D |
probably damaging |
Het |
| Zscan29 |
A |
G |
2: 120,995,260 (GRCm39) |
V421A |
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 |
|
|
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'- TTGGTAGGACACTCTGCGAGACTG -3'
(R):5'- GATCGCCCTCTCTTGAAGCTGAAC -3'
Sequencing Primer
(F):5'- TCTGCGAGACTGCACCC -3'
(R):5'- ACAGGTGGCTCTCAGTGTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation