Incidental Mutation 'R1573:Cacna1i'
| ID |
170995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1i
|
| Ensembl Gene |
ENSMUSG00000022416 |
| Gene Name |
calcium channel, voltage-dependent, alpha 1I subunit |
| Synonyms |
|
| MMRRC Submission |
039612-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1573 (G1)
|
| Quality Score |
139 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80171439-80282480 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 80277869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160424]
[ENSMUST00000162155]
|
| AlphaFold |
E9Q7P2 |
| Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000160424
|
| SMART Domains |
Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
| 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 benign
Transcript: ENSMUST00000162155
|
| SMART Domains |
Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.1%
|
| Validation Efficiency |
98% (90/92) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,004,445 (GRCm39) |
|
probably benign |
Het |
| Add1 |
C |
G |
5: 34,758,740 (GRCm39) |
A18G |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,910,113 (GRCm39) |
K198E |
possibly damaging |
Het |
| Angptl1 |
T |
A |
1: 156,684,740 (GRCm39) |
L303Q |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,348,186 (GRCm39) |
I635L |
probably benign |
Het |
| Atp5mk |
T |
A |
19: 47,074,634 (GRCm39) |
Q9L |
possibly damaging |
Het |
| Atp8a2 |
G |
T |
14: 60,097,655 (GRCm39) |
T791K |
probably benign |
Het |
| Auts2 |
T |
C |
5: 131,469,325 (GRCm39) |
K664R |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,967,685 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,575,625 (GRCm39) |
F1077L |
probably damaging |
Het |
| Camkk1 |
C |
T |
11: 72,918,307 (GRCm39) |
R52C |
probably damaging |
Het |
| Camkmt |
T |
A |
17: 85,403,958 (GRCm39) |
V60E |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cbr2 |
A |
T |
11: 120,622,791 (GRCm39) |
L3Q |
possibly damaging |
Het |
| Ccar1 |
A |
T |
10: 62,586,434 (GRCm39) |
D920E |
unknown |
Het |
| Cdc20b |
A |
G |
13: 113,192,478 (GRCm39) |
N57S |
probably benign |
Het |
| Cep83 |
G |
A |
10: 94,624,525 (GRCm39) |
E601K |
probably damaging |
Het |
| Cldn10 |
A |
T |
14: 119,111,080 (GRCm39) |
I176L |
probably benign |
Het |
| Cpeb2 |
T |
C |
5: 43,441,273 (GRCm39) |
|
probably benign |
Het |
| Crb1 |
A |
G |
1: 139,265,344 (GRCm39) |
S25P |
probably damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,039,684 (GRCm39) |
Y319F |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,240,312 (GRCm39) |
S1561F |
probably damaging |
Het |
| Dxo |
C |
T |
17: 35,057,270 (GRCm39) |
R221C |
probably damaging |
Het |
| Dynlt4 |
A |
T |
4: 116,985,191 (GRCm39) |
T5S |
probably benign |
Het |
| Epc2 |
A |
G |
2: 49,439,984 (GRCm39) |
T801A |
possibly damaging |
Het |
| Fndc3a |
C |
A |
14: 72,806,384 (GRCm39) |
C373F |
probably damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,283,932 (GRCm39) |
S918P |
probably benign |
Het |
| Fuca2 |
A |
G |
10: 13,381,587 (GRCm39) |
T84A |
possibly damaging |
Het |
| Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
| Gmeb1 |
A |
T |
4: 131,979,051 (GRCm39) |
N21K |
probably benign |
Het |
| Htt |
T |
C |
5: 35,021,718 (GRCm39) |
|
probably benign |
Het |
| Igsf1 |
T |
C |
X: 48,880,863 (GRCm39) |
R251G |
possibly damaging |
Het |
| Itih4 |
A |
T |
14: 30,619,504 (GRCm39) |
H720L |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,663,073 (GRCm39) |
L705* |
probably null |
Het |
| Krt34 |
A |
T |
11: 99,931,854 (GRCm39) |
S122T |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,517 (GRCm39) |
T571A |
probably benign |
Het |
| Lag3 |
T |
C |
6: 124,886,210 (GRCm39) |
T248A |
possibly damaging |
Het |
| Lgi1 |
T |
A |
19: 38,272,629 (GRCm39) |
H133Q |
probably benign |
Het |
| Map1a |
A |
T |
2: 121,134,607 (GRCm39) |
T1808S |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,424,752 (GRCm39) |
T613A |
probably damaging |
Het |
| Meaf6 |
A |
G |
4: 124,983,931 (GRCm39) |
I111V |
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,296,845 (GRCm39) |
P2730S |
possibly damaging |
Het |
| Mlc1 |
A |
C |
15: 88,842,350 (GRCm39) |
C337G |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,227,482 (GRCm39) |
Y572N |
probably damaging |
Het |
| Mterf3 |
T |
C |
13: 67,070,967 (GRCm39) |
N172S |
possibly damaging |
Het |
| Or3a1c |
T |
A |
11: 74,046,196 (GRCm39) |
M72K |
probably benign |
Het |
| Or4b1 |
A |
T |
2: 89,979,068 (GRCm39) |
|
probably benign |
Het |
| Or4c115 |
T |
A |
2: 88,928,064 (GRCm39) |
D69V |
probably damaging |
Het |
| Or5ak4 |
A |
T |
2: 85,161,687 (GRCm39) |
L185H |
probably damaging |
Het |
| Or6c6c |
T |
C |
10: 129,541,487 (GRCm39) |
S247P |
probably damaging |
Het |
| Padi4 |
T |
G |
4: 140,484,881 (GRCm39) |
T327P |
possibly damaging |
Het |
| Pga5 |
T |
A |
19: 10,651,201 (GRCm39) |
I151F |
probably benign |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Prokr2 |
T |
A |
2: 132,215,684 (GRCm39) |
Q259L |
probably damaging |
Het |
| Ptbp2 |
C |
A |
3: 119,546,754 (GRCm39) |
D43Y |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ralgps2 |
C |
T |
1: 156,660,500 (GRCm39) |
R237Q |
possibly damaging |
Het |
| Rap1gds1 |
C |
A |
3: 138,671,624 (GRCm39) |
|
probably null |
Het |
| Saa2 |
T |
A |
7: 46,401,716 (GRCm39) |
M1K |
probably null |
Het |
| Samd9l |
T |
C |
6: 3,375,426 (GRCm39) |
I612V |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,442,692 (GRCm39) |
V1518I |
probably benign |
Het |
| Serpina6 |
T |
C |
12: 103,618,012 (GRCm39) |
D267G |
probably damaging |
Het |
| Sh2d4b |
A |
G |
14: 40,564,329 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
C |
5: 34,718,034 (GRCm39) |
V505A |
probably benign |
Het |
| Smad2 |
A |
G |
18: 76,395,657 (GRCm39) |
E32G |
possibly damaging |
Het |
| Smn1 |
T |
G |
13: 100,263,118 (GRCm39) |
D32E |
probably damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,182,883 (GRCm39) |
S142P |
possibly damaging |
Het |
| Stk39 |
A |
T |
2: 68,221,293 (GRCm39) |
I210N |
probably damaging |
Het |
| Tcte2 |
A |
G |
17: 13,937,899 (GRCm39) |
|
probably benign |
Het |
| Tctn3 |
C |
A |
19: 40,597,361 (GRCm39) |
E230* |
probably null |
Het |
| Tenm2 |
A |
T |
11: 35,937,896 (GRCm39) |
H1592Q |
probably damaging |
Het |
| Tescl |
A |
G |
7: 24,032,668 (GRCm39) |
V219A |
probably damaging |
Het |
| Tgm6 |
C |
T |
2: 129,993,660 (GRCm39) |
S633L |
probably benign |
Het |
| Tmcc1 |
C |
T |
6: 116,110,924 (GRCm39) |
S123N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ulk2 |
G |
A |
11: 61,670,581 (GRCm39) |
R992C |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,332,184 (GRCm39) |
H278Y |
probably damaging |
Het |
| Wwp2 |
C |
T |
8: 108,275,121 (GRCm39) |
R373W |
probably damaging |
Het |
| Zfp24 |
A |
T |
18: 24,150,399 (GRCm39) |
D170E |
possibly damaging |
Het |
| Zfp808 |
T |
C |
13: 62,319,311 (GRCm39) |
I180T |
possibly damaging |
Het |
| Zfp820 |
T |
A |
17: 22,037,737 (GRCm39) |
Q530H |
probably benign |
Het |
| Zfp975 |
A |
T |
7: 42,311,507 (GRCm39) |
Y369N |
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 |
|
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 |
|
|
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'- TGTCCCCATTCCCTGAGGAAGAAG -3'
(R):5'- ACCTCTCCTCTCAAGTCTCAGAAGC -3'
Sequencing Primer
(F):5'- AGTCTGGCCTGCTGAGC -3'
(R):5'- AGTTGACACTCGGTGACCTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation