Incidental Mutation 'IGL00796:Cacna1f'
ID 9344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacna1f
Ensembl Gene ENSMUSG00000031142
Gene Name calcium channel, voltage-dependent, alpha 1F subunit
Synonyms Sfc17, Cav1.4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00796
Quality Score
Status
Chromosome X
Chromosomal Location 7473342-7501435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7497270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1594 (D1594E)
Ref Sequence ENSEMBL: ENSMUSP00000111391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115725] [ENSMUST00000115726] [ENSMUST00000128628] [ENSMUST00000155090] [ENSMUST00000156047]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000115725
AA Change: D1587E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111390
Gene: ENSMUSG00000031142
AA Change: D1587E

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: D1594E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111391
Gene: ENSMUSG00000031142
AA Change: D1594E

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 noncoding transcript
Transcript: ENSMUST00000151208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157000
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
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh5 A G 3: 138,156,742 (GRCm39) T143A probably benign Het
Alk T A 17: 72,212,137 (GRCm39) N802I possibly damaging Het
Aspn A G 13: 49,710,893 (GRCm39) I179M probably damaging Het
Bptf A G 11: 106,945,376 (GRCm39) L2506P probably damaging Het
Chd7 T A 4: 8,847,271 (GRCm39) N1671K possibly damaging Het
Dnah7b T C 1: 46,250,497 (GRCm39) V1706A probably damaging Het
Elmo2 A T 2: 165,133,934 (GRCm39) probably benign Het
Ercc6 T C 14: 32,291,959 (GRCm39) S1108P probably benign Het
Fam53a A T 5: 33,758,171 (GRCm39) D317E probably benign Het
Gria2 T C 3: 80,618,097 (GRCm39) N313D probably benign Het
Itch A T 2: 155,051,002 (GRCm39) H563L probably damaging Het
Kdm1a G A 4: 136,281,558 (GRCm39) A651V probably damaging Het
Myb T G 10: 21,017,698 (GRCm39) Q631P probably benign Het
Myh9 A T 15: 77,681,195 (GRCm39) probably benign Het
Nars2 C A 7: 96,680,786 (GRCm39) L319I probably benign Het
Nars2 T A 7: 96,680,787 (GRCm39) L319Q probably benign Het
Pdcl2 G A 5: 76,467,022 (GRCm39) T57I probably damaging Het
Pde6g T A 11: 120,341,390 (GRCm39) I17L probably benign Het
Ppp1r9a T A 6: 5,157,014 (GRCm39) M964K probably benign Het
Ssxb2 A G X: 8,324,459 (GRCm39) probably benign Het
Tonsl T C 15: 76,509,349 (GRCm39) T8A probably benign Het
Zdbf2 T C 1: 63,346,364 (GRCm39) M1581T probably benign Het
Other mutations in Cacna1f
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06