Incidental Mutation 'R4365:Cacna1f'
ID |
325727 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cacna1f
|
Ensembl Gene |
ENSMUSG00000031142 |
Gene Name |
calcium channel, voltage-dependent, alpha 1F subunit |
Synonyms |
Sfc17, Cav1.4 |
MMRRC Submission |
041113-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4365 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
X |
Chromosomal Location |
7473342-7501435 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 7476213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 123
(A123S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111391
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033483]
[ENSMUST00000115725]
[ENSMUST00000115726]
[ENSMUST00000133637]
[ENSMUST00000155090]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033483
|
SMART Domains |
Protein: ENSMUSP00000033483 Gene: ENSMUSG00000031143
Domain | Start | End | E-Value | Type |
Pfam:DUF812
|
1 |
597 |
8.4e-216 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115725
AA Change: A123S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111390 Gene: ENSMUSG00000031142 AA Change: A123S
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: A123S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111391 Gene: ENSMUSG00000031142 AA Change: A123S
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: ENSMUST00000126170
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133637
AA Change: A123S
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116051 Gene: ENSMUSG00000031142 AA Change: A123S
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
AA Change: A123S
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000138116 Gene: ENSMUSG00000031142 AA Change: A123S
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 |
|
Meta Mutation Damage Score |
0.1233 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
A |
T |
12: 8,066,083 (GRCm39) |
I4318F |
possibly damaging |
Het |
Btrc |
G |
A |
19: 45,501,919 (GRCm39) |
D213N |
probably damaging |
Het |
C4b |
T |
A |
17: 34,953,717 (GRCm39) |
I964F |
possibly damaging |
Het |
Ccdc153 |
G |
A |
9: 44,154,889 (GRCm39) |
A71T |
probably damaging |
Het |
Celsr3 |
C |
A |
9: 108,707,046 (GRCm39) |
D1176E |
possibly damaging |
Het |
Cfap46 |
A |
C |
7: 139,230,868 (GRCm39) |
V920G |
probably damaging |
Het |
Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
Dnajb12 |
T |
C |
10: 59,715,588 (GRCm39) |
F30S |
probably damaging |
Het |
Emilin3 |
T |
C |
2: 160,750,406 (GRCm39) |
R401G |
probably benign |
Het |
F5 |
A |
G |
1: 164,012,519 (GRCm39) |
T478A |
probably damaging |
Het |
Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
Il1rl2 |
G |
T |
1: 40,390,951 (GRCm39) |
R298L |
probably benign |
Het |
Lipo2 |
A |
T |
19: 33,699,108 (GRCm39) |
S307R |
probably damaging |
Het |
Lrit2 |
T |
A |
14: 36,794,076 (GRCm39) |
L380Q |
probably damaging |
Het |
Ncan |
A |
G |
8: 70,567,861 (GRCm39) |
S84P |
probably damaging |
Het |
Ncoa2 |
T |
C |
1: 13,250,771 (GRCm39) |
I304V |
probably damaging |
Het |
Nfe2l2 |
T |
C |
2: 75,509,772 (GRCm39) |
D16G |
probably damaging |
Het |
Nt5dc1 |
T |
C |
10: 34,186,377 (GRCm39) |
D397G |
probably benign |
Het |
Obsl1 |
A |
C |
1: 75,464,693 (GRCm39) |
L1576R |
possibly damaging |
Het |
Or5p1 |
A |
T |
7: 107,916,313 (GRCm39) |
I71F |
probably benign |
Het |
Or5v1 |
T |
C |
17: 37,810,270 (GRCm39) |
S243P |
probably damaging |
Het |
Or6c212 |
A |
G |
10: 129,559,281 (GRCm39) |
I44T |
probably damaging |
Het |
Pcdh17 |
A |
G |
14: 84,685,726 (GRCm39) |
E731G |
probably damaging |
Het |
Rag1 |
T |
A |
2: 101,473,288 (GRCm39) |
K618M |
probably damaging |
Het |
Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
Rnf150 |
A |
G |
8: 83,590,744 (GRCm39) |
K36E |
probably benign |
Het |
S100a9 |
T |
C |
3: 90,600,081 (GRCm39) |
H105R |
unknown |
Het |
Spindoc |
T |
C |
19: 7,351,219 (GRCm39) |
D246G |
possibly damaging |
Het |
St8sia4 |
A |
T |
1: 95,519,517 (GRCm39) |
Y324N |
possibly damaging |
Het |
Tlr11 |
T |
A |
14: 50,598,926 (GRCm39) |
I304N |
probably damaging |
Het |
Trpm3 |
A |
G |
19: 22,955,694 (GRCm39) |
T1090A |
probably benign |
Het |
Ube4a |
T |
C |
9: 44,871,379 (GRCm39) |
N7D |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAATGTCCAAACCTTGAAGTCTAG -3'
(R):5'- TGAAGGCCTCGATTTATTTCGG -3'
Sequencing Primer
(F):5'- GAATTAACTCTAGATGAAGAGGGCAC -3'
(R):5'- ATTTCGGGGCAGGGTCAGAC -3'
|
Posted On |
2015-07-06 |