Incidental Mutation 'IGL02114:Lhfpl5'
ID 280279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lhfpl5
Ensembl Gene ENSMUSG00000062252
Gene Name lipoma HMGIC fusion partner-like 5
Synonyms 9330179O15Rik, Tmhs
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # IGL02114
Quality Score
Status
Chromosome 17
Chromosomal Location 28794330-28802567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 28795149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 59 (A59S)
Ref Sequence ENSEMBL: ENSMUSP00000079598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080780]
AlphaFold Q4KL25
Predicted Effect possibly damaging
Transcript: ENSMUST00000080780
AA Change: A59S

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079598
Gene: ENSMUSG00000062252
AA Change: A59S

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 25 202 1.5e-67 PFAM
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 this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700084J12Rik C A 15: 33,405,844 (GRCm39) probably benign Het
Akap3 T C 6: 126,842,959 (GRCm39) V526A probably damaging Het
Ano6 C A 15: 95,841,341 (GRCm39) S479R probably damaging Het
Aqp8 C A 7: 123,063,419 (GRCm39) H90N probably damaging Het
Arih1 A T 9: 59,333,452 (GRCm39) C229S probably damaging Het
Col6a6 C A 9: 105,644,398 (GRCm39) probably null Het
Cp A G 3: 20,020,511 (GRCm39) E168G probably benign Het
Creb5 C T 6: 53,581,443 (GRCm39) probably benign Het
Cstdc3 T A 16: 36,131,617 (GRCm39) Y42* probably null Het
Cyp2c66 C A 19: 39,159,519 (GRCm39) probably benign Het
Dcpp2 C A 17: 24,119,609 (GRCm39) A141D possibly damaging Het
Dnah5 A G 15: 28,397,270 (GRCm39) D3321G probably damaging Het
Ecsit T C 9: 21,989,440 (GRCm39) probably benign Het
Gabra1 T C 11: 42,026,402 (GRCm39) I297V probably damaging Het
Gja8 T C 3: 96,827,341 (GRCm39) K107R probably benign Het
Gm16686 A T 4: 88,673,739 (GRCm39) L30Q probably null Het
Hbp1 T C 12: 31,980,674 (GRCm39) probably benign Het
Inhbc T C 10: 127,205,971 (GRCm39) I99V probably benign Het
Kcne3 T A 7: 99,833,697 (GRCm39) probably benign Het
Larp1 T C 11: 57,947,881 (GRCm39) Y926H probably damaging Het
Mov10 T A 3: 104,702,634 (GRCm39) probably benign Het
Myl12b A T 17: 71,284,164 (GRCm39) N21K possibly damaging Het
Ncoa7 A T 10: 30,538,360 (GRCm39) V675E probably damaging Het
Nt5c1b T C 12: 10,425,444 (GRCm39) I255T probably damaging Het
Numa1 T A 7: 101,661,083 (GRCm39) probably benign Het
Or13c3 T A 4: 52,856,144 (GRCm39) Y123F probably damaging Het
Otop2 A T 11: 115,217,806 (GRCm39) D214V possibly damaging Het
Plec C A 15: 76,057,748 (GRCm39) G3928V probably damaging Het
Prkcz T C 4: 155,356,047 (GRCm39) E176G probably damaging Het
Qdpr G A 5: 45,592,018 (GRCm39) T106I possibly damaging Het
R3hdm2 T G 10: 127,319,978 (GRCm39) M481R probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Skic2 C T 17: 35,060,092 (GRCm39) V145M probably damaging Het
Slx4ip T A 2: 136,842,120 (GRCm39) V15D probably damaging Het
Stat4 T C 1: 52,142,024 (GRCm39) S624P probably damaging Het
Tecpr2 T A 12: 110,935,321 (GRCm39) L1380Q probably damaging Het
Traf2 T C 2: 25,415,004 (GRCm39) I286V possibly damaging Het
Vmn2r30 T C 7: 7,340,408 (GRCm39) I29V possibly damaging Het
Wdr43 A G 17: 71,959,843 (GRCm39) Q561R probably benign Het
Zfp607b T A 7: 27,403,150 (GRCm39) F535L probably benign Het
Other mutations in Lhfpl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0885:Lhfpl5 UTSW 17 28,795,011 (GRCm39) missense probably damaging 1.00
R3176:Lhfpl5 UTSW 17 28,798,920 (GRCm39) missense possibly damaging 0.87
R3276:Lhfpl5 UTSW 17 28,798,920 (GRCm39) missense possibly damaging 0.87
R4747:Lhfpl5 UTSW 17 28,798,950 (GRCm39) missense probably damaging 1.00
R4817:Lhfpl5 UTSW 17 28,801,962 (GRCm39) makesense probably null
R4817:Lhfpl5 UTSW 17 28,795,300 (GRCm39) missense possibly damaging 0.93
R5148:Lhfpl5 UTSW 17 28,798,942 (GRCm39) missense probably damaging 1.00
R5447:Lhfpl5 UTSW 17 28,795,071 (GRCm39) missense probably damaging 1.00
R7024:Lhfpl5 UTSW 17 28,801,957 (GRCm39) missense probably benign 0.15
R7605:Lhfpl5 UTSW 17 28,795,305 (GRCm39) missense possibly damaging 0.93
R9221:Lhfpl5 UTSW 17 28,799,133 (GRCm39) missense possibly damaging 0.87
R9545:Lhfpl5 UTSW 17 28,799,079 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16