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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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