Incidental Mutation 'IGL02143:Cacna1f'
| ID |
281697 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cacna1f
|
| Ensembl Gene |
ENSMUSG00000031142 |
| Gene Name |
calcium channel, voltage-dependent, alpha 1F subunit |
| Synonyms |
Sfc17, Cav1.4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02143
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
7473342-7501435 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to C
at 7480234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115725]
[ENSMUST00000115726]
[ENSMUST00000133637]
[ENSMUST00000155090]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115725
|
| SMART Domains |
Protein: ENSMUSP00000111390
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
129 |
371 |
9.3e-59 |
PFAM |
|
PDB:4DEY|B
|
372 |
415 |
2e-21 |
PDB |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
transmembrane domain
|
525 |
547 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
563 |
757 |
3.8e-44 |
PFAM |
|
coiled coil region
|
806 |
834 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
909 |
1139 |
1.1e-50 |
PFAM |
|
Pfam:Ion_trans
|
1227 |
1436 |
2.7e-64 |
PFAM |
|
Pfam:PKD_channel
|
1272 |
1443 |
1e-10 |
PFAM |
|
Blast:EFh
|
1457 |
1485 |
2e-8 |
BLAST |
|
Ca_chan_IQ
|
1571 |
1605 |
3.71e-14 |
SMART |
|
low complexity region
|
1636 |
1655 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115726
|
| SMART Domains |
Protein: ENSMUSP00000111391
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
91 |
383 |
2.1e-70 |
PFAM |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
525 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
528 |
768 |
3.8e-54 |
PFAM |
|
coiled coil region
|
806 |
834 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
873 |
1151 |
2.4e-59 |
PFAM |
|
Pfam:Ion_trans
|
1192 |
1455 |
2.6e-67 |
PFAM |
|
Pfam:PKD_channel
|
1285 |
1450 |
8.5e-10 |
PFAM |
|
Pfam:GPHH
|
1457 |
1526 |
2.7e-37 |
PFAM |
|
Ca_chan_IQ
|
1578 |
1612 |
3.71e-14 |
SMART |
|
Pfam:CAC1F_C
|
1622 |
1983 |
1.5e-164 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133637
|
| SMART Domains |
Protein: ENSMUSP00000116051
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
96 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
129 |
371 |
4.8e-59 |
PFAM |
|
PDB:4DEY|B
|
372 |
415 |
9e-22 |
PDB |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
transmembrane domain
|
525 |
547 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
563 |
757 |
2.2e-44 |
PFAM |
|
low complexity region
|
822 |
832 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155090
|
| SMART Domains |
Protein: ENSMUSP00000138116
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
96 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
129 |
371 |
1.1e-59 |
PFAM |
|
PDB:4DEY|B
|
372 |
415 |
4e-22 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous or hemizygous mutation of this gene results in impaired eye electrophysiology, abnormal retinal neuronal layer, bipolar cell, and horizontal cell morphology, and impaired retinal synapse morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,194,278 (GRCm39) |
M1T |
probably null |
Het |
| Ager |
G |
A |
17: 34,818,092 (GRCm39) |
G183E |
probably damaging |
Het |
| Alcam |
C |
A |
16: 52,125,982 (GRCm39) |
V112L |
probably damaging |
Het |
| Amot |
T |
A |
X: 144,270,024 (GRCm39) |
Q204H |
probably damaging |
Het |
| Ankar |
C |
T |
1: 72,697,808 (GRCm39) |
|
probably null |
Het |
| Armc9 |
A |
G |
1: 86,104,587 (GRCm39) |
M279V |
possibly damaging |
Het |
| Bpifb1 |
C |
T |
2: 154,051,849 (GRCm39) |
T218I |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,395,474 (GRCm39) |
|
probably null |
Het |
| Ccdc57 |
A |
T |
11: 120,752,069 (GRCm39) |
C837* |
probably null |
Het |
| Ctbp2 |
G |
A |
7: 132,592,885 (GRCm39) |
A808V |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,268,889 (GRCm39) |
|
probably null |
Het |
| Dis3 |
T |
C |
14: 99,328,754 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,620,450 (GRCm39) |
F394S |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,005,246 (GRCm39) |
N2336S |
probably damaging |
Het |
| Drap1 |
C |
A |
19: 5,473,871 (GRCm39) |
L66F |
probably damaging |
Het |
| Eif5a2 |
C |
T |
3: 28,847,888 (GRCm39) |
R109C |
probably benign |
Het |
| Enpp1 |
A |
T |
10: 24,553,872 (GRCm39) |
D105E |
probably damaging |
Het |
| Evi5l |
G |
A |
8: 4,241,293 (GRCm39) |
M275I |
probably damaging |
Het |
| Flt1 |
T |
C |
5: 147,515,246 (GRCm39) |
T1059A |
probably benign |
Het |
| Fndc3c1 |
T |
C |
X: 105,516,340 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
C |
11: 77,396,813 (GRCm39) |
V645A |
possibly damaging |
Het |
| Gm7735 |
T |
A |
16: 88,966,437 (GRCm39) |
C20* |
probably null |
Het |
| Ighv1-42 |
G |
T |
12: 114,900,906 (GRCm39) |
P60T |
probably benign |
Het |
| Jakmip2 |
A |
T |
18: 43,696,350 (GRCm39) |
L533Q |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 123,085,898 (GRCm39) |
E238K |
probably damaging |
Het |
| Lpin2 |
T |
C |
17: 71,550,921 (GRCm39) |
S694P |
probably damaging |
Het |
| Mab21l2 |
C |
T |
3: 86,454,562 (GRCm39) |
R146Q |
possibly damaging |
Het |
| Mmp1b |
A |
T |
9: 7,386,400 (GRCm39) |
S174T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,181,211 (GRCm39) |
Y1132C |
probably damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,387,383 (GRCm39) |
H219L |
possibly damaging |
Het |
| Nwd2 |
T |
A |
5: 63,948,996 (GRCm39) |
|
probably null |
Het |
| Obp1a |
A |
C |
X: 77,134,449 (GRCm39) |
M18R |
possibly damaging |
Het |
| Or13a19 |
A |
T |
7: 139,903,505 (GRCm39) |
K298* |
probably null |
Het |
| Or2ag13 |
T |
C |
7: 106,473,180 (GRCm39) |
T91A |
probably benign |
Het |
| Pabpc5 |
T |
A |
X: 118,837,688 (GRCm39) |
M1K |
probably null |
Het |
| Paxip1 |
A |
G |
5: 27,980,596 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
A |
G |
4: 156,302,500 (GRCm39) |
E348G |
probably benign |
Het |
| Pfkfb1 |
T |
C |
X: 149,405,138 (GRCm39) |
F170L |
probably damaging |
Het |
| Pou3f3 |
A |
G |
1: 42,737,686 (GRCm39) |
M461V |
probably benign |
Het |
| Ppfia2 |
G |
A |
10: 106,693,360 (GRCm39) |
D622N |
probably damaging |
Het |
| Prtg |
T |
G |
9: 72,799,606 (GRCm39) |
S801R |
probably damaging |
Het |
| Rars2 |
T |
A |
4: 34,623,404 (GRCm39) |
|
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,790,917 (GRCm39) |
D35G |
probably damaging |
Het |
| Repin1 |
T |
A |
6: 48,574,055 (GRCm39) |
L272Q |
probably damaging |
Het |
| Spmip5 |
C |
A |
19: 58,777,684 (GRCm39) |
R34L |
possibly damaging |
Het |
| Stk36 |
T |
C |
1: 74,655,728 (GRCm39) |
|
probably benign |
Het |
| Tbxa2r |
A |
G |
10: 81,170,320 (GRCm39) |
T269A |
probably benign |
Het |
| Tmem132c |
G |
A |
5: 127,640,466 (GRCm39) |
R879Q |
probably benign |
Het |
| Vmn1r78 |
C |
A |
7: 11,886,407 (GRCm39) |
A6E |
probably benign |
Het |
| Vps45 |
A |
T |
3: 95,941,133 (GRCm39) |
N369K |
probably benign |
Het |
| Vps45 |
T |
C |
3: 95,926,958 (GRCm39) |
I530V |
probably benign |
Het |
| Zkscan16 |
G |
A |
4: 58,956,911 (GRCm39) |
G398R |
probably damaging |
Het |
|
| Other mutations in Cacna1f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00796:Cacna1f
|
APN |
X |
7,497,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01693:Cacna1f
|
APN |
X |
7,491,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02167:Cacna1f
|
APN |
X |
7,482,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02381:Cacna1f
|
APN |
X |
7,482,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02466:Cacna1f
|
APN |
X |
7,495,644 (GRCm39) |
splice site |
probably null |
|
|
IGL03006:Cacna1f
|
APN |
X |
7,493,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Cacna1f
|
UTSW |
X |
7,486,300 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4340:Cacna1f
|
UTSW |
X |
7,486,306 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4548:Cacna1f
|
UTSW |
X |
7,486,297 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0629:Cacna1f
|
UTSW |
X |
7,486,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1791:Cacna1f
|
UTSW |
X |
7,486,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2507:Cacna1f
|
UTSW |
X |
7,492,687 (GRCm39) |
splice site |
probably null |
|
|
R2508:Cacna1f
|
UTSW |
X |
7,492,687 (GRCm39) |
splice site |
probably null |
|
|
R4195:Cacna1f
|
UTSW |
X |
7,475,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4365:Cacna1f
|
UTSW |
X |
7,476,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4366:Cacna1f
|
UTSW |
X |
7,476,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8111:Cacna1f
|
UTSW |
X |
7,487,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF011:Cacna1f
|
UTSW |
X |
7,486,295 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF025:Cacna1f
|
UTSW |
X |
7,486,296 (GRCm39) |
nonsense |
probably null |
|
|
RF026:Cacna1f
|
UTSW |
X |
7,486,314 (GRCm39) |
nonsense |
probably null |
|
|
RF027:Cacna1f
|
UTSW |
X |
7,486,293 (GRCm39) |
nonsense |
probably null |
|
|
RF028:Cacna1f
|
UTSW |
X |
7,486,302 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF028:Cacna1f
|
UTSW |
X |
7,486,299 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF032:Cacna1f
|
UTSW |
X |
7,486,302 (GRCm39) |
nonsense |
probably null |
|
|
RF035:Cacna1f
|
UTSW |
X |
7,486,293 (GRCm39) |
nonsense |
probably null |
|
|
RF040:Cacna1f
|
UTSW |
X |
7,485,210 (GRCm39) |
frame shift |
probably null |
|
|
RF044:Cacna1f
|
UTSW |
X |
7,486,296 (GRCm39) |
nonsense |
probably null |
|
|
RF056:Cacna1f
|
UTSW |
X |
7,486,314 (GRCm39) |
nonsense |
probably null |
|
|
RF060:Cacna1f
|
UTSW |
X |
7,486,299 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Z1088:Cacna1f
|
UTSW |
X |
7,476,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation