Incidental Mutation 'IGL02538:Lhfpl6'
ID 297591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lhfpl6
Ensembl Gene ENSMUSG00000048332
Gene Name LHFPL tetraspan subfamily member 6
Synonyms 2810489O06Rik, Lhfp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL02538
Quality Score
Status
Chromosome 3
Chromosomal Location 52948968-53169100 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 52950732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 2 (A2V)
Ref Sequence ENSEMBL: ENSMUSP00000119019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059562] [ENSMUST00000147139]
AlphaFold Q8BM86
Predicted Effect probably benign
Transcript: ENSMUST00000059562
AA Change: A2V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000056364
Gene: ENSMUSG00000048332
AA Change: A2V

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 8 193 2e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137954
Predicted Effect probably benign
Transcript: ENSMUST00000147139
AA Change: A2V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119019
Gene: ENSMUSG00000048332
AA Change: A2V

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 8 193 2.1e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197735
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. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,136,949 (GRCm39) I171L possibly damaging Het
Amdhd1 C T 10: 93,363,108 (GRCm39) V327I probably damaging Het
Ankrd1 T C 19: 36,092,456 (GRCm39) H257R probably damaging Het
Ano5 G A 7: 51,233,523 (GRCm39) R595H probably damaging Het
Atg2a A G 19: 6,307,658 (GRCm39) T1531A probably benign Het
Bsn A G 9: 107,982,435 (GRCm39) S1001P unknown Het
Btn1a1 T C 13: 23,643,385 (GRCm39) T355A possibly damaging Het
Cd22 G T 7: 30,576,985 (GRCm39) N107K probably benign Het
Ceacam10 A G 7: 24,477,908 (GRCm39) H141R probably damaging Het
Chil3 T C 3: 106,071,445 (GRCm39) D73G probably damaging Het
Cit C T 5: 116,125,048 (GRCm39) Q1536* probably null Het
Dmgdh T A 13: 93,845,261 (GRCm39) I418K possibly damaging Het
Efcab6 T A 15: 83,938,722 (GRCm39) probably benign Het
Eif4g2 T C 7: 110,678,523 (GRCm39) I110V probably benign Het
Fam217a T C 13: 35,095,096 (GRCm39) Y221C probably damaging Het
Fezf1 T A 6: 23,246,557 (GRCm39) K342N probably damaging Het
Git2 A T 5: 114,869,047 (GRCm39) probably benign Het
Gm8126 A T 14: 43,117,047 (GRCm39) R63W probably benign Het
Ica1l T C 1: 60,049,345 (GRCm39) K203E probably benign Het
Iigp1c A T 18: 60,378,944 (GRCm39) K160* probably null Het
Inpp5d A G 1: 87,623,088 (GRCm39) M393V probably null Het
Kbtbd11 A G 8: 15,078,841 (GRCm39) D480G probably damaging Het
Klhl1 T C 14: 96,477,649 (GRCm39) N473S probably benign Het
Krt1c A G 15: 101,719,589 (GRCm39) S694P unknown Het
Lipk T A 19: 34,024,279 (GRCm39) L354Q probably damaging Het
Luzp2 T A 7: 54,861,546 (GRCm39) L225* probably null Het
Mknk1 C T 4: 115,717,288 (GRCm39) Q58* probably null Het
Mmut A T 17: 41,249,510 (GRCm39) I162F probably damaging Het
Nol11 T A 11: 107,064,199 (GRCm39) M518L probably benign Het
Nubpl T C 12: 52,357,477 (GRCm39) probably benign Het
Nup35 T A 2: 80,474,563 (GRCm39) S93R possibly damaging Het
Or2t48 T C 11: 58,420,816 (GRCm39) probably benign Het
Or5ak22 T A 2: 85,230,647 (GRCm39) I77F probably damaging Het
Pex3 T C 10: 13,411,344 (GRCm39) E178G possibly damaging Het
Rad23b C A 4: 55,370,457 (GRCm39) P161Q possibly damaging Het
Sipa1l2 A G 8: 126,178,716 (GRCm39) S1128P probably damaging Het
Terb2 T C 2: 122,035,289 (GRCm39) probably benign Het
Trim72 A G 7: 127,603,942 (GRCm39) Y96C probably damaging Het
Tyk2 T C 9: 21,022,339 (GRCm39) D830G possibly damaging Het
Uri1 A G 7: 37,664,916 (GRCm39) S259P probably benign Het
Usp38 A T 8: 81,712,187 (GRCm39) L616H probably damaging Het
Uspl1 T A 5: 149,125,269 (GRCm39) C73S probably damaging Het
Wdr7 C A 18: 63,929,306 (GRCm39) D1047E probably benign Het
Other mutations in Lhfpl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03256:Lhfpl6 APN 3 52,950,974 (GRCm39) missense possibly damaging 0.56
R0387:Lhfpl6 UTSW 3 52,950,749 (GRCm39) missense probably benign
R5032:Lhfpl6 UTSW 3 52,950,854 (GRCm39) missense possibly damaging 0.68
R6280:Lhfpl6 UTSW 3 53,167,935 (GRCm39) missense probably damaging 0.99
R7448:Lhfpl6 UTSW 3 53,168,020 (GRCm39) missense probably damaging 1.00
R8250:Lhfpl6 UTSW 3 52,950,759 (GRCm39) missense probably benign 0.21
R8877:Lhfpl6 UTSW 3 52,950,974 (GRCm39) missense possibly damaging 0.56
R9164:Lhfpl6 UTSW 3 52,950,887 (GRCm39) missense probably benign 0.00
R9339:Lhfpl6 UTSW 3 52,950,891 (GRCm39) missense probably benign
Posted On 2015-04-16