Incidental Mutation 'IGL01106:Lhfpl4'
ID 51322
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: 0.075) question?
Stock # IGL01106
Quality Score
Status
Chromosome 6
Chromosomal Location 113145051-113172345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113170824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 121 (T121S)
Ref Sequence ENSEMBL: ENSMUSP00000124470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162280]
AlphaFold Q5U4E0
Predicted Effect probably benign
Transcript: ENSMUST00000162280
AA Change: T121S

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124470
Gene: ENSMUSG00000042873
AA Change: T121S

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 22 200 2.9e-71 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000203665
AA Change: T27S
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg13 T C 2: 91,526,297 (GRCm39) D12G probably damaging Het
Cmya5 A G 13: 93,221,120 (GRCm39) L3163P probably damaging Het
Cntn2 A G 1: 132,449,622 (GRCm39) probably benign Het
Ddx23 C T 15: 98,548,821 (GRCm39) R327Q probably benign Het
Dlec1 G A 9: 118,931,853 (GRCm39) E91K probably benign Het
Fam13c T C 10: 70,284,646 (GRCm39) probably null Het
Fbn1 T C 2: 125,193,626 (GRCm39) T1398A possibly damaging Het
Frem1 T C 4: 82,840,494 (GRCm39) T1793A probably benign Het
Gprc5b T C 7: 118,583,084 (GRCm39) K262E probably benign Het
Hadh A T 3: 131,034,619 (GRCm39) Y226N possibly damaging Het
Herc1 T A 9: 66,383,720 (GRCm39) probably benign Het
Ikbke A G 1: 131,187,792 (GRCm39) probably benign Het
Iqcg T A 16: 32,855,970 (GRCm39) I202L possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Kcna3 A G 3: 106,945,180 (GRCm39) E481G possibly damaging Het
Kdm1a A G 4: 136,299,639 (GRCm39) probably benign Het
Klhdc8a A T 1: 132,232,438 (GRCm39) S321C probably benign Het
Kntc1 A G 5: 123,900,666 (GRCm39) K255E probably benign Het
Lsm11 G A 11: 45,824,490 (GRCm39) Q346* probably null Het
Mcoln3 A G 3: 145,843,019 (GRCm39) T368A probably benign Het
Nlrp4g A T 9: 124,350,452 (GRCm38) noncoding transcript Het
Nol8 A G 13: 49,807,957 (GRCm39) I58V possibly damaging Het
Or5al6 C T 2: 85,976,560 (GRCm39) V173M probably benign Het
Phactr4 A G 4: 132,098,116 (GRCm39) F384S probably benign Het
Prkg1 T A 19: 30,562,678 (GRCm39) I509L probably benign Het
Rims1 T A 1: 22,449,671 (GRCm39) D1019V probably damaging Het
Sclt1 T C 3: 41,629,754 (GRCm39) probably benign Het
Sntg2 T A 12: 30,307,987 (GRCm39) K233* probably null Het
Syt5 T C 7: 4,544,156 (GRCm39) T295A probably damaging Het
Other mutations in Lhfpl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01485:Lhfpl4 APN 6 113,171,082 (GRCm39) missense probably benign 0.25
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 2013-06-21