Incidental Mutation 'IGL01485:Lhfpl4'
ID 88732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lhfpl4
Ensembl Gene ENSMUSG00000042873
Gene Name lipoma HMGIC fusion partner-like protein 4
Synonyms 1190004M23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL01485
Quality Score
Status
Chromosome 6
Chromosomal Location 113145051-113172345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113171082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 35 (I35F)
Ref Sequence ENSEMBL: ENSMUSP00000124470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162280]
AlphaFold Q5U4E0
Predicted Effect probably benign
Transcript: ENSMUST00000162280
AA Change: I35F

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124470
Gene: ENSMUSG00000042873
AA Change: I35F

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 22 200 2.9e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203665
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 is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout affects inhibitory postsynaptic currents in the hippocampus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,927,003 (GRCm39) L888F probably damaging Het
Aftph G T 11: 20,642,507 (GRCm39) A842E probably damaging Het
Ankrd13d A T 19: 4,323,592 (GRCm39) M257K probably benign Het
Anks1 T C 17: 28,270,558 (GRCm39) F786L probably damaging Het
Cd2ap A T 17: 43,163,365 (GRCm39) I20N probably damaging Het
Cdh20 C T 1: 104,861,832 (GRCm39) T4M probably benign Het
Dnah5 C T 15: 28,331,872 (GRCm39) R2153C probably damaging Het
Fap G A 2: 62,374,655 (GRCm39) P248L possibly damaging Het
Hps4 T A 5: 112,512,377 (GRCm39) probably benign Het
Igdcc4 C A 9: 65,029,889 (GRCm39) T313K probably benign Het
Klhl30 G A 1: 91,281,761 (GRCm39) V121I probably damaging Het
Ldb3 C A 14: 34,264,519 (GRCm39) E526D probably damaging Het
Ldc1 T A 4: 130,109,218 (GRCm39) Y274F probably benign Het
Lpin1 A G 12: 16,612,358 (GRCm39) probably benign Het
Nek1 T A 8: 61,502,860 (GRCm39) C436S probably benign Het
Nek5 C A 8: 22,573,385 (GRCm39) A524S probably benign Het
Nkx2-3 C T 19: 43,601,094 (GRCm39) T52M possibly damaging Het
Or1e33 A G 11: 73,738,036 (GRCm39) I305T probably benign Het
Or2w2 A T 13: 21,758,627 (GRCm39) probably null Het
Or8b56 G A 9: 38,739,895 (GRCm39) V303I possibly damaging Het
Pappa T C 4: 65,107,536 (GRCm39) V649A probably damaging Het
Parp4 T A 14: 56,859,661 (GRCm39) Y920N possibly damaging Het
Pdgfra G A 5: 75,324,313 (GRCm39) S56N probably benign Het
Pigg T C 5: 108,484,067 (GRCm39) V438A possibly damaging Het
Ptn A T 6: 36,720,298 (GRCm39) C85S probably damaging Het
Sh3rf1 A C 8: 61,782,365 (GRCm39) E169A possibly damaging Het
Slc30a10 T A 1: 185,187,616 (GRCm39) V119E probably damaging Het
Speg A G 1: 75,364,471 (GRCm39) E178G probably damaging Het
Sspo A G 6: 48,455,665 (GRCm39) Y3105C probably damaging Het
Supt3 A G 17: 45,430,045 (GRCm39) E366G possibly damaging Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Ttc21b G A 2: 66,082,234 (GRCm39) probably benign Het
Usp24 T C 4: 106,219,429 (GRCm39) F542L probably benign Het
Vmn1r234 T A 17: 21,449,171 (GRCm39) D28E possibly damaging Het
Other mutations in Lhfpl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01106:Lhfpl4 APN 6 113,170,824 (GRCm39) missense probably benign 0.30
R1610:Lhfpl4 UTSW 6 113,171,097 (GRCm39) missense possibly damaging 0.80
R1868:Lhfpl4 UTSW 6 113,153,394 (GRCm39) missense probably benign 0.00
R3821:Lhfpl4 UTSW 6 113,171,069 (GRCm39) missense probably benign 0.36
R4431:Lhfpl4 UTSW 6 113,170,805 (GRCm39) missense possibly damaging 0.56
R7097:Lhfpl4 UTSW 6 113,153,632 (GRCm39) missense probably benign 0.01
R7102:Lhfpl4 UTSW 6 113,171,106 (GRCm39) missense possibly damaging 0.94
R7122:Lhfpl4 UTSW 6 113,153,632 (GRCm39) missense probably benign 0.01
R7401:Lhfpl4 UTSW 6 113,153,627 (GRCm39) missense possibly damaging 0.52
R8738:Lhfpl4 UTSW 6 113,171,034 (GRCm39) missense possibly damaging 0.57
R9650:Lhfpl4 UTSW 6 113,171,147 (GRCm39) missense probably benign 0.03
Posted On 2013-11-18