Incidental Mutation 'IGL01475:Enkur'
ID 88422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enkur
Ensembl Gene ENSMUSG00000026679
Gene Name enkurin, TRPC channel interacting protein
Synonyms 4933434I06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL01475
Quality Score
Status
Chromosome 2
Chromosomal Location 21185542-21210176 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21201530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 52 (A52S)
Ref Sequence ENSEMBL: ENSMUSP00000027992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027992]
AlphaFold Q6SP97
Predicted Effect probably damaging
Transcript: ENSMUST00000027992
AA Change: A52S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027992
Gene: ENSMUSG00000026679
AA Change: A52S

DomainStartEndE-ValueType
Pfam:Enkurin 152 248 6.3e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158951
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 protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Some mice homozygous for a knock-out allele exhibit situs invertus or ambiguus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik A T 14: 59,380,252 (GRCm39) N15K possibly damaging Het
Adam32 A T 8: 25,362,664 (GRCm39) I587K probably damaging Het
Adamtsl4 T C 3: 95,584,843 (GRCm39) S942G probably benign Het
Adamtsl5 A G 10: 80,180,750 (GRCm39) F104S probably damaging Het
Adgrf5 A G 17: 43,761,245 (GRCm39) D980G probably benign Het
Apba1 A T 19: 23,894,950 (GRCm39) D462V possibly damaging Het
Arhgef11 T C 3: 87,634,433 (GRCm39) probably benign Het
Cd74 T C 18: 60,943,393 (GRCm39) probably benign Het
Cdc16 T C 8: 13,831,542 (GRCm39) S592P probably benign Het
Cenpj A G 14: 56,802,502 (GRCm39) M21T possibly damaging Het
Col28a1 A G 6: 8,103,521 (GRCm39) L425S probably damaging Het
Dbt C T 3: 116,313,908 (GRCm39) T25I possibly damaging Het
Dguok C A 6: 83,467,552 (GRCm39) M98I possibly damaging Het
Dmxl1 T C 18: 50,004,781 (GRCm39) L943P probably damaging Het
Eloa G A 4: 135,738,231 (GRCm39) S243L probably benign Het
Ezh1 T C 11: 101,083,787 (GRCm39) E744G probably damaging Het
Fbxw11 T C 11: 32,672,101 (GRCm39) S190P possibly damaging Het
Foxb1 G A 9: 69,666,550 (GRCm39) probably benign Het
Gabra5 C T 7: 57,058,432 (GRCm39) G439S probably damaging Het
Gtf2h2 A T 13: 100,617,541 (GRCm39) V207D probably damaging Het
Hoatz A G 9: 51,011,358 (GRCm39) I93T probably benign Het
Krt76 A G 15: 101,796,948 (GRCm39) V317A probably benign Het
Lair1 C A 7: 4,012,683 (GRCm39) probably benign Het
Lrit2 T A 14: 36,791,051 (GRCm39) H243Q probably damaging Het
Mast3 C T 8: 71,232,174 (GRCm39) A1268T probably damaging Het
Matn2 G A 15: 34,316,671 (GRCm39) M4I possibly damaging Het
Mob1b T A 5: 88,897,502 (GRCm39) F137I probably damaging Het
Mreg T C 1: 72,203,325 (GRCm39) probably benign Het
Nom1 T C 5: 29,651,272 (GRCm39) V684A possibly damaging Het
Pate2 T A 9: 35,580,998 (GRCm39) L1Q probably null Het
Pla2r1 T C 2: 60,271,425 (GRCm39) probably benign Het
Plxna1 A G 6: 89,331,870 (GRCm39) F447L possibly damaging Het
Pno1 A T 11: 17,160,992 (GRCm39) I114N probably damaging Het
Ppp1r7 T G 1: 93,288,540 (GRCm39) probably benign Het
Pprc1 T A 19: 46,059,968 (GRCm39) Y1503N probably benign Het
Rab30 T C 7: 92,484,930 (GRCm39) V132A probably damaging Het
Slc15a4 T C 5: 127,679,024 (GRCm39) T439A probably benign Het
Slc29a3 A G 10: 60,559,596 (GRCm39) V186A possibly damaging Het
Stxbp5l G A 16: 37,165,454 (GRCm39) T88I possibly damaging Het
Tarbp1 A G 8: 127,160,701 (GRCm39) V1250A probably benign Het
Tcte2 A T 17: 13,937,824 (GRCm39) probably benign Het
Trp53bp1 A T 2: 121,100,800 (GRCm39) probably null Het
Trpc4 A T 3: 54,173,828 (GRCm39) L407F possibly damaging Het
Vmn1r6 T C 6: 56,979,896 (GRCm39) F164S probably damaging Het
Zfp579 C A 7: 4,997,743 (GRCm39) R56L probably benign Het
Other mutations in Enkur
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Enkur APN 2 21,194,042 (GRCm39) missense probably benign 0.01
IGL02642:Enkur APN 2 21,199,198 (GRCm39) missense probably benign 0.00
R0032:Enkur UTSW 2 21,194,115 (GRCm39) missense probably benign
R0032:Enkur UTSW 2 21,194,115 (GRCm39) missense probably benign
R1737:Enkur UTSW 2 21,199,106 (GRCm39) missense probably damaging 1.00
R1851:Enkur UTSW 2 21,193,988 (GRCm39) missense probably benign 0.10
R2221:Enkur UTSW 2 21,194,130 (GRCm39) splice site probably benign
R5483:Enkur UTSW 2 21,199,109 (GRCm39) missense probably benign
R7577:Enkur UTSW 2 21,209,913 (GRCm39) missense probably benign 0.00
R8906:Enkur UTSW 2 21,201,568 (GRCm39) missense probably benign
R9134:Enkur UTSW 2 21,185,779 (GRCm39) missense probably benign
R9472:Enkur UTSW 2 21,201,590 (GRCm39) missense possibly damaging 0.65
X0025:Enkur UTSW 2 21,185,923 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18