Incidental Mutation 'R8877:Lhfpl6'
ID 676621
Institutional Source Beutler Lab
Gene Symbol Lhfpl6
Ensembl Gene ENSMUSG00000048332
Gene Name LHFPL tetraspan subfamily member 6
Synonyms 2810489O06Rik, Lhfp
MMRRC Submission 068745-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R8877 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 52948968-53169100 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52950974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 83 (R83G)
Ref Sequence ENSEMBL: ENSMUSP00000119019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059562] [ENSMUST00000147139]
AlphaFold Q8BM86
Predicted Effect possibly damaging
Transcript: ENSMUST00000059562
AA Change: R83G

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056364
Gene: ENSMUSG00000048332
AA Change: R83G

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 8 193 2e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137954
Predicted Effect possibly damaging
Transcript: ENSMUST00000147139
AA Change: R83G

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119019
Gene: ENSMUSG00000048332
AA Change: R83G

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 8 193 2.1e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197735
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,288,704 (GRCm39) probably null Het
Acp2 G A 2: 91,036,129 (GRCm39) R109H probably damaging Het
Adamts8 T C 9: 30,862,688 (GRCm39) S298P probably damaging Het
Anxa7 A G 14: 20,517,548 (GRCm39) V157A probably benign Het
Arid3b T C 9: 57,740,904 (GRCm39) K181E probably damaging Het
Armt1 A G 10: 4,400,864 (GRCm39) T204A possibly damaging Het
Brip1 A C 11: 86,043,532 (GRCm39) V344G possibly damaging Het
Ccdc40 C T 11: 119,153,992 (GRCm39) S1088L probably damaging Het
Ccdc93 A T 1: 121,403,867 (GRCm39) H332L probably benign Het
Celsr3 A G 9: 108,706,877 (GRCm39) D1120G probably damaging Het
Cep104 T A 4: 154,077,985 (GRCm39) I631N probably damaging Het
Col17a1 C T 19: 47,637,197 (GRCm39) A1354T unknown Het
Cpa2 T C 6: 30,541,692 (GRCm39) L10P probably damaging Het
Creg2 G T 1: 39,689,861 (GRCm39) T83K probably benign Het
Ddit3 T C 10: 127,131,884 (GRCm39) I144T probably damaging Het
Dmxl1 A G 18: 50,011,292 (GRCm39) I1150V possibly damaging Het
Eprs1 C T 1: 185,148,071 (GRCm39) R1278* probably null Het
Esco1 A G 18: 10,575,017 (GRCm39) V685A probably damaging Het
Gid8 C T 2: 180,358,710 (GRCm39) A125V probably damaging Het
Gin1 A G 1: 97,710,941 (GRCm39) D208G possibly damaging Het
Gja10 G A 4: 32,602,441 (GRCm39) probably benign Het
Grin2d T C 7: 45,503,699 (GRCm39) I679V probably damaging Het
Gsto2 C A 19: 47,873,176 (GRCm39) R184S probably damaging Het
Hira T A 16: 18,770,854 (GRCm39) H830Q probably benign Het
Hmcn1 G A 1: 150,514,659 (GRCm39) T3571I probably benign Het
Khnyn T C 14: 56,131,782 (GRCm39) V568A possibly damaging Het
Kif13a T A 13: 46,954,921 (GRCm39) probably null Het
Larp4b T C 13: 9,193,835 (GRCm39) V161A probably benign Het
Larp6 T A 9: 60,644,850 (GRCm39) M330K probably benign Het
Mavs A G 2: 131,087,489 (GRCm39) N329S possibly damaging Het
Mep1b T A 18: 21,221,630 (GRCm39) N193K possibly damaging Het
Msantd5f6 T A 4: 73,322,468 (GRCm39) R12* probably null Het
Mttp A T 3: 137,818,317 (GRCm39) D380E probably damaging Het
Nbeal2 G A 9: 110,459,311 (GRCm39) T1939I probably damaging Het
Nsun7 A T 5: 66,453,294 (GRCm39) R670* probably null Het
Obsl1 G A 1: 75,473,167 (GRCm39) R1019* probably null Het
Or10ak12 A G 4: 118,666,482 (GRCm39) V193A probably damaging Het
Or5w11 T C 2: 87,459,212 (GRCm39) M19T probably damaging Het
Phc3 C T 3: 30,968,271 (GRCm39) V922I probably damaging Het
Pip5kl1 T C 2: 32,468,951 (GRCm39) V190A possibly damaging Het
Plekhg2 G T 7: 28,060,278 (GRCm39) T993N possibly damaging Het
Psg26 C T 7: 18,217,865 (GRCm39) V18I probably benign Het
Slc11a1 A G 1: 74,419,424 (GRCm39) Y187C probably damaging Het
Smarcd3 A G 5: 24,798,990 (GRCm39) S323P possibly damaging Het
Spen G T 4: 141,199,137 (GRCm39) Y3163* probably null Het
Stx4a T A 7: 127,447,633 (GRCm39) V259D probably damaging Het
Synj2 T C 17: 6,087,941 (GRCm39) S1331P probably damaging Het
Tmprss11c G A 5: 86,385,540 (GRCm39) Q311* probably null Het
Tpo T A 12: 30,142,738 (GRCm39) N662I probably damaging Het
Trav13d-4 C A 14: 53,995,350 (GRCm39) D101E probably damaging Het
Trbv14 G A 6: 41,112,292 (GRCm39) A30T probably benign Het
Unc80 T C 1: 66,567,144 (GRCm39) S917P possibly damaging Het
Zc3h6 T A 2: 128,856,319 (GRCm39) C466* probably null Het
Zfp462 T C 4: 55,011,097 (GRCm39) V1021A probably damaging Het
Zfp51 T C 17: 21,682,017 (GRCm39) M72T probably damaging Het
Zfp704 C T 3: 9,674,416 (GRCm39) E122K unknown Het
Zfyve26 T C 12: 79,334,152 (GRCm39) K289E probably benign Het
Other mutations in Lhfpl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02538:Lhfpl6 APN 3 52,950,732 (GRCm39) missense probably benign 0.00
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
R9164:Lhfpl6 UTSW 3 52,950,887 (GRCm39) missense probably benign 0.00
R9339:Lhfpl6 UTSW 3 52,950,891 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGGGTTCTTCATGCCATAC -3'
(R):5'- TCTTACCATGGCCACTTCAG -3'

Sequencing Primer
(F):5'- CATACTGGCTCTGGGGGTCTC -3'
(R):5'- TCTTGTACTCCAAATGCCAATTAC -3'
Posted On 2021-07-15