Incidental Mutation 'R4195:Cacna1f'
| ID |
318545 |
| 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 |
041026-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4195 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
7473342-7501435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7475169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 57
(H57R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111390
(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: H57R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111390
Gene: ENSMUSG00000031142
AA Change: H57R
| 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: H57R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111391
Gene: ENSMUSG00000031142
AA Change: H57R
| 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: H57R
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116051
Gene: ENSMUSG00000031142
AA Change: H57R
| 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: H57R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000138116
Gene: ENSMUSG00000031142
AA Change: H57R
| 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 |
0.0896 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (40/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
| Actg2 |
T |
G |
6: 83,500,155 (GRCm39) |
T39P |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,762,261 (GRCm39) |
E531G |
probably damaging |
Het |
| Alox12b |
A |
G |
11: 69,060,426 (GRCm39) |
S661G |
probably benign |
Het |
| Apod |
T |
C |
16: 31,116,392 (GRCm39) |
M113V |
probably benign |
Het |
| Atl3 |
A |
G |
19: 7,495,911 (GRCm39) |
I171V |
possibly damaging |
Het |
| Atrn |
C |
A |
2: 130,775,332 (GRCm39) |
T145K |
probably damaging |
Het |
| Cdhr18 |
C |
A |
14: 13,829,772 (GRCm38) |
V657L |
probably benign |
Het |
| Cldn9 |
T |
C |
17: 23,902,148 (GRCm39) |
E159G |
probably damaging |
Het |
| Cnnm4 |
C |
A |
1: 36,538,589 (GRCm39) |
H590Q |
probably benign |
Het |
| Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
| Cse1l |
A |
G |
2: 166,771,899 (GRCm39) |
T387A |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
| Fbll1 |
A |
G |
11: 35,688,493 (GRCm39) |
S257P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
| G3bp2 |
A |
G |
5: 92,203,275 (GRCm39) |
S349P |
probably damaging |
Het |
| Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6569 |
C |
T |
15: 73,708,092 (GRCm39) |
P22L |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,120,096 (GRCm39) |
N314D |
probably damaging |
Het |
| Lman2l |
A |
C |
1: 36,464,022 (GRCm39) |
I266M |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,161,571 (GRCm39) |
R2074S |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,180,847 (GRCm39) |
H1226Q |
probably damaging |
Het |
| Nmi |
A |
C |
2: 51,838,632 (GRCm39) |
S301A |
probably benign |
Het |
| Or11i1 |
A |
T |
3: 106,729,328 (GRCm39) |
C182* |
probably null |
Het |
| Pclo |
A |
G |
5: 14,727,577 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,019,327 (GRCm39) |
Y59H |
probably damaging |
Het |
| Slc30a4 |
G |
A |
2: 122,527,190 (GRCm39) |
T401M |
probably damaging |
Het |
| Tas1r3 |
T |
C |
4: 155,947,442 (GRCm39) |
E81G |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,547 (GRCm39) |
|
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,134,102 (GRCm39) |
T387A |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTCCCATCAAATACAGGGATG -3'
(R):5'- CCAGTCCAGGCTTGACTTAAC -3'
Sequencing Primer
(F):5'- CTGGACAAGAAATGGCTATGATTGTC -3'
(R):5'- AGTCCAGGCTTGACTTAACTCTAGAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation