Incidental Mutation 'R8250:Lhfpl6'
ID 640275
Institutional Source Beutler Lab
Gene Symbol Lhfpl6
Ensembl Gene ENSMUSG00000048332
Gene Name LHFPL tetraspan subfamily member 6
Synonyms 2810489O06Rik, Lhfp
MMRRC Submission 067676-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R8250 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 52948968-53169100 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52950759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 11 (I11T)
Ref Sequence ENSEMBL: ENSMUSP00000056364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059562] [ENSMUST00000147139]
AlphaFold Q8BM86
Predicted Effect probably benign
Transcript: ENSMUST00000059562
AA Change: I11T

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000056364
Gene: ENSMUSG00000048332
AA Change: I11T

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 8 193 2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147139
AA Change: I11T

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119019
Gene: ENSMUSG00000048332
AA Change: I11T

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 8 193 2.1e-62 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,260,846 (GRCm39) E1027V probably damaging Het
Agbl2 G A 2: 90,627,908 (GRCm39) G238R probably damaging Het
Bltp1 T C 3: 36,971,811 (GRCm39) S515P probably damaging Het
Ccdc27 A T 4: 154,126,245 (GRCm39) D81E unknown Het
Csrnp3 A G 2: 65,852,562 (GRCm39) E330G probably damaging Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Ftcd T G 10: 76,417,461 (GRCm39) I300R probably damaging Het
Fxr1 T A 3: 34,101,178 (GRCm39) Y161* probably null Het
Gabrg2 C T 11: 41,858,379 (GRCm39) V250I probably benign Het
Gmcl1 T C 6: 86,698,384 (GRCm39) D171G possibly damaging Het
Grk2 A G 19: 4,339,962 (GRCm39) F375S probably damaging Het
Kat2b T A 17: 53,970,564 (GRCm39) I650N probably damaging Het
Mbtd1 A G 11: 93,801,176 (GRCm39) Y141C probably damaging Het
Mon1b A T 8: 114,366,351 (GRCm39) E449V probably damaging Het
Mrpl47 T C 3: 32,785,382 (GRCm39) N112S probably damaging Het
Myo9a T A 9: 59,767,392 (GRCm39) H865Q probably damaging Het
Notch3 T C 17: 32,351,310 (GRCm39) N1895S probably damaging Het
Nuggc A G 14: 65,879,318 (GRCm39) I693V probably benign Het
Oip5 A G 2: 119,446,110 (GRCm39) S133P probably benign Het
Opcml A G 9: 28,586,566 (GRCm39) I95V probably damaging Het
Or10v1 A T 19: 11,873,741 (GRCm39) M119L probably damaging Het
Or52l1 T C 7: 104,830,518 (GRCm39) M16V Het
Or8k20 T C 2: 86,106,498 (GRCm39) E111G probably damaging Het
P2rx3 A C 2: 84,852,735 (GRCm39) V221G probably damaging Het
Prr27 A G 5: 87,990,556 (GRCm39) N56S possibly damaging Het
Psmd11 T C 11: 80,336,752 (GRCm39) S135P possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Sall3 T C 18: 81,016,743 (GRCm39) D395G probably benign Het
Scube2 T C 7: 109,463,377 (GRCm39) N62S probably benign Het
Sema6a A T 18: 47,423,182 (GRCm39) S275T probably damaging Het
Sirpb1a A T 3: 15,444,104 (GRCm39) L382Q possibly damaging Het
Snrpn T A 7: 59,636,633 (GRCm39) probably null Het
Sox5 A T 6: 144,100,777 (GRCm39) S71T possibly damaging Het
Synpo2l G T 14: 20,712,344 (GRCm39) T321K probably benign Het
Tex15 G A 8: 34,055,233 (GRCm39) E285K probably null Het
Tmem126b G A 7: 90,118,317 (GRCm39) L188F probably damaging Het
Ttll2 T C 17: 7,618,767 (GRCm39) T387A probably benign Het
Ttn A G 2: 76,667,155 (GRCm39) Y11484H unknown Het
Vmn2r76 T A 7: 85,875,231 (GRCm39) Y582F possibly damaging Het
Zfp786 A T 6: 47,797,729 (GRCm39) L403Q possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- GCGGTAATACTGAAACTCTGTTACG -3'
(R):5'- TACAGATCCTCCACTCGGTG -3'

Sequencing Primer
(F):5'- ACTCTGTTACGGCAAGTAGC -3'
(R):5'- CCCTGGAAGGAGGCATAGC -3'
Posted On 2020-07-28