Incidental Mutation 'IGL00796:Cacna1f'
ID |
9344 |
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 # |
IGL00796
|
Quality Score |
|
Status
|
|
Chromosome |
X |
Chromosomal Location |
7473342-7501435 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 7497270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1594
(D1594E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111391
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115725]
[ENSMUST00000115726]
[ENSMUST00000128628]
[ENSMUST00000155090]
[ENSMUST00000156047]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115725
AA Change: D1587E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111390 Gene: ENSMUSG00000031142 AA Change: D1587E
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 damaging
Transcript: ENSMUST00000115726
AA Change: D1594E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111391 Gene: ENSMUSG00000031142 AA Change: D1594E
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 |
noncoding transcript
Transcript: ENSMUST00000123979
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128628
|
SMART Domains |
Protein: ENSMUSP00000119207 Gene: ENSMUSG00000031142
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
4 |
166 |
8.7e-48 |
PFAM |
Pfam:PKD_channel
|
9 |
173 |
2.6e-11 |
PFAM |
Blast:EFh
|
187 |
215 |
1e-9 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141634
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151208
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157000
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156047
|
SMART Domains |
Protein: ENSMUSP00000115012 Gene: ENSMUSG00000031142
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
1 |
159 |
6.5e-47 |
PFAM |
Pfam:PKD_channel
|
2 |
166 |
3.3e-11 |
PFAM |
Blast:EFh
|
180 |
208 |
2e-9 |
BLAST |
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh5 |
A |
G |
3: 138,156,742 (GRCm39) |
T143A |
probably benign |
Het |
Alk |
T |
A |
17: 72,212,137 (GRCm39) |
N802I |
possibly damaging |
Het |
Aspn |
A |
G |
13: 49,710,893 (GRCm39) |
I179M |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,945,376 (GRCm39) |
L2506P |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,847,271 (GRCm39) |
N1671K |
possibly damaging |
Het |
Dnah7b |
T |
C |
1: 46,250,497 (GRCm39) |
V1706A |
probably damaging |
Het |
Elmo2 |
A |
T |
2: 165,133,934 (GRCm39) |
|
probably benign |
Het |
Ercc6 |
T |
C |
14: 32,291,959 (GRCm39) |
S1108P |
probably benign |
Het |
Fam53a |
A |
T |
5: 33,758,171 (GRCm39) |
D317E |
probably benign |
Het |
Gria2 |
T |
C |
3: 80,618,097 (GRCm39) |
N313D |
probably benign |
Het |
Itch |
A |
T |
2: 155,051,002 (GRCm39) |
H563L |
probably damaging |
Het |
Kdm1a |
G |
A |
4: 136,281,558 (GRCm39) |
A651V |
probably damaging |
Het |
Myb |
T |
G |
10: 21,017,698 (GRCm39) |
Q631P |
probably benign |
Het |
Myh9 |
A |
T |
15: 77,681,195 (GRCm39) |
|
probably benign |
Het |
Nars2 |
C |
A |
7: 96,680,786 (GRCm39) |
L319I |
probably benign |
Het |
Nars2 |
T |
A |
7: 96,680,787 (GRCm39) |
L319Q |
probably benign |
Het |
Pdcl2 |
G |
A |
5: 76,467,022 (GRCm39) |
T57I |
probably damaging |
Het |
Pde6g |
T |
A |
11: 120,341,390 (GRCm39) |
I17L |
probably benign |
Het |
Ppp1r9a |
T |
A |
6: 5,157,014 (GRCm39) |
M964K |
probably benign |
Het |
Ssxb2 |
A |
G |
X: 8,324,459 (GRCm39) |
|
probably benign |
Het |
Tonsl |
T |
C |
15: 76,509,349 (GRCm39) |
T8A |
probably benign |
Het |
Zdbf2 |
T |
C |
1: 63,346,364 (GRCm39) |
M1581T |
probably benign |
Het |
|
Other mutations in Cacna1f |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01693:Cacna1f
|
APN |
X |
7,491,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02143:Cacna1f
|
APN |
X |
7,480,234 (GRCm39) |
intron |
probably benign |
|
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 |
2012-12-06 |