Incidental Mutation 'IGL01693:Cacna1f'
ID104174
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? Possibly non essential (E-score: 0.338) question?
Stock #IGL01693
Quality Score
Status
ChromosomeX
Chromosomal Location7607083-7635196 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 7625367 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 1159 (N1159Y)
Ref Sequence ENSEMBL: ENSMUSP00000111391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115725] [ENSMUST00000115726] [ENSMUST00000128628] [ENSMUST00000155090] [ENSMUST00000156047]
Predicted Effect probably damaging
Transcript: ENSMUST00000115725
AA Change: N1159Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111390
Gene: ENSMUSG00000031142
AA Change: N1159Y

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: N1159Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111391
Gene: ENSMUSG00000031142
AA Change: N1159Y

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 benign
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 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 benign
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik T C 14: 12,287,380 L55P probably damaging Het
Akr1b8 T A 6: 34,363,336 M145K possibly damaging Het
Arhgap39 T C 15: 76,725,967 D943G probably null Het
Arhgap42 A T 9: 9,006,506 W630R probably damaging Het
Bbs5 T A 2: 69,663,080 S225T probably benign Het
Catsperg1 A G 7: 29,185,098 probably benign Het
Cep97 A T 16: 55,930,594 W20R probably damaging Het
Cmtm8 G A 9: 114,789,705 T160M probably damaging Het
Csf2ra A G 19: 61,225,996 S244P possibly damaging Het
Dnah7b C T 1: 46,358,147 P3913S probably benign Het
Ezh1 C T 11: 101,215,258 M100I probably benign Het
Gadl1 C A 9: 115,949,585 P189Q probably damaging Het
Gcnt2 G A 13: 40,888,073 S236N probably benign Het
Gm17689 G A 9: 36,581,366 T81I probably benign Het
H1fnt A C 15: 98,256,381 Y296D unknown Het
Hmcn1 T A 1: 150,583,280 D5191V probably damaging Het
Mycbp2 A T 14: 103,127,979 D4194E probably damaging Het
Ncf2 C A 1: 152,824,323 T203K probably benign Het
Olfr76 C A 19: 12,120,557 V40L probably benign Het
Phf8 T A X: 151,550,875 V113E probably damaging Het
Pkm G T 9: 59,670,522 K207N probably damaging Het
Slco1a6 G T 6: 142,133,209 S120* probably null Het
Sox10 C T 15: 79,156,273 V195M possibly damaging Het
Swt1 A G 1: 151,422,104 I24T probably benign Het
Thada T C 17: 84,446,644 T300A probably benign Het
Tmem2 A C 19: 21,801,887 I354L probably benign Het
Vmn2r17 T C 5: 109,452,518 Y561H probably damaging Het
Wdr78 T C 4: 103,087,330 probably null Het
Other mutations in Cacna1f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Cacna1f APN X 7631031 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
IGL02466:Cacna1f APN X 7629405 splice site probably null
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
Z1088:Cacna1f UTSW X 7610251 missense probably damaging 1.00
Posted On2014-01-21