Incidental Mutation 'IGL02466:Cacna1f'
ID294606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacna1f
Ensembl Gene ENSMUSG00000031142
Gene Namecalcium channel, voltage-dependent, alpha 1F subunit
SynonymsCav1.4, Sfc17
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02466
Quality Score
Status
ChromosomeX
Chromosomal Location7607083-7635196 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 7629405 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115725] [ENSMUST00000115725] [ENSMUST00000115726] [ENSMUST00000115726] [ENSMUST00000128628] [ENSMUST00000128628] [ENSMUST00000155090] [ENSMUST00000156047] [ENSMUST00000156047]
Predicted Effect probably null
Transcript: ENSMUST00000115725
SMART Domains Protein: ENSMUSP00000111390
Gene: ENSMUSG00000031142

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 null
Transcript: ENSMUST00000115725
SMART Domains Protein: ENSMUSP00000111390
Gene: ENSMUSG00000031142

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 null
Transcript: ENSMUST00000115726
SMART Domains Protein: ENSMUSP00000111391
Gene: ENSMUSG00000031142

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 probably null
Transcript: ENSMUST00000115726
SMART Domains Protein: ENSMUSP00000111391
Gene: ENSMUSG00000031142

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: ENSMUST00000123979
Predicted Effect probably null
Transcript: ENSMUST00000128628
SMART Domains Protein: ENSMUSP00000119207
Gene: ENSMUSG00000031142

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000128628
SMART Domains Protein: ENSMUSP00000119207
Gene: ENSMUSG00000031142

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000155090
SMART Domains Protein: ENSMUSP00000138116
Gene: ENSMUSG00000031142

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
Predicted Effect probably null
Transcript: ENSMUST00000156047
SMART Domains Protein: ENSMUSP00000115012
Gene: ENSMUSG00000031142

DomainStartEndE-ValueType
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
Predicted Effect probably null
Transcript: ENSMUST00000156047
SMART Domains Protein: ENSMUSP00000115012
Gene: ENSMUSG00000031142

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157000
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,216,435 probably null Het
Abca13 T C 11: 9,297,527 F2425L probably benign Het
Adgre4 A T 17: 55,814,188 Y418F probably benign Het
Adra1a G T 14: 66,637,873 C99F probably damaging Het
Aox3 C A 1: 58,158,272 H592Q probably benign Het
Cacna2d2 T A 9: 107,465,554 I100N probably damaging Het
Ccr9 T A 9: 123,779,846 C198S probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col4a3 T A 1: 82,670,192 C475S unknown Het
Csnk2a2 T C 8: 95,477,231 D100G possibly damaging Het
Cstf2t G A 19: 31,083,877 G271E possibly damaging Het
Fbxw22 T C 9: 109,385,092 R219G probably damaging Het
Gif A T 19: 11,752,232 N185I probably damaging Het
Homez A G 14: 54,858,102 F50L probably damaging Het
Hspa4l C T 3: 40,753,225 Q81* probably null Het
Ifi202b T C 1: 173,972,309 D202G possibly damaging Het
Mansc1 T A 6: 134,610,851 D121V probably damaging Het
Olfr1197 T G 2: 88,729,395 D68A probably damaging Het
Olfr538 A G 7: 140,574,771 Y206C probably benign Het
Olfr572 T A 7: 102,928,516 V296E possibly damaging Het
P2rx1 A T 11: 73,009,584 probably null Het
Phactr4 A G 4: 132,377,172 probably benign Het
Pus10 C T 11: 23,725,574 T482I probably damaging Het
Scyl2 G T 10: 89,653,009 Y206* probably null Het
Sell G A 1: 164,069,063 probably null Het
Slfn10-ps C T 11: 83,030,264 noncoding transcript Het
Ssh2 T C 11: 77,416,407 probably benign Het
Tas2r117 A G 6: 132,803,000 M34V probably benign Het
Vmn2r103 A T 17: 19,773,369 T3S probably benign Het
Vmn2r73 A T 7: 85,872,876 I85K probably damaging Het
Vps13b T C 15: 35,770,741 V2110A possibly damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 G A 7: 81,023,998 G237R probably damaging Het
Zkscan7 A G 9: 122,888,885 E115G probably damaging Het
Zranb3 G A 1: 128,016,092 T306M probably benign Het
Other mutations in Cacna1f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Cacna1f APN X 7631031 missense probably damaging 1.00
IGL01693:Cacna1f APN X 7625367 missense probably damaging 1.00
IGL02143:Cacna1f APN X 7613995 intron probably benign
IGL02167:Cacna1f APN X 7616019 missense probably damaging 1.00
IGL02381:Cacna1f APN X 7616068 missense probably damaging 1.00
IGL03006:Cacna1f APN X 7626903 missense probably damaging 1.00
FR4304:Cacna1f UTSW X 7620061 utr 3 prime probably benign
FR4340:Cacna1f UTSW X 7620067 utr 3 prime probably benign
FR4548:Cacna1f UTSW X 7620058 utr 3 prime probably benign
R0629:Cacna1f UTSW X 7620434 missense probably damaging 0.99
R1791:Cacna1f UTSW X 7620439 missense probably damaging 0.99
R2507:Cacna1f UTSW X 7626448 unclassified probably null
R2508:Cacna1f UTSW X 7626448 unclassified probably null
R4195:Cacna1f UTSW X 7608930 missense probably damaging 1.00
R4365:Cacna1f UTSW X 7609974 missense probably damaging 1.00
R4366:Cacna1f UTSW X 7609974 missense probably damaging 1.00
RF005:Cacna1f UTSW X 7620059 utr 3 prime probably benign
RF011:Cacna1f UTSW X 7620056 utr 3 prime probably benign
RF025:Cacna1f UTSW X 7620057 nonsense probably null
RF026:Cacna1f UTSW X 7620075 nonsense probably null
RF027:Cacna1f UTSW X 7620054 nonsense probably null
RF028:Cacna1f UTSW X 7620060 utr 3 prime probably benign
RF028:Cacna1f UTSW X 7620063 utr 3 prime probably benign
RF032:Cacna1f UTSW X 7620063 nonsense probably null
RF035:Cacna1f UTSW X 7620054 nonsense probably null
RF040:Cacna1f UTSW X 7618971 frame shift probably null
RF044:Cacna1f UTSW X 7620057 nonsense probably null
RF056:Cacna1f UTSW X 7620075 nonsense probably null
RF060:Cacna1f UTSW X 7620060 utr 3 prime probably benign
Z1088:Cacna1f UTSW X 7610251 missense probably damaging 1.00
Posted On2015-04-16