Incidental Mutation 'R4410:Lhfpl3'
ID 327852
Institutional Source Beutler Lab
Gene Symbol Lhfpl3
Ensembl Gene ENSMUSG00000106379
Gene Name lipoma HMGIC fusion partner-like 3
Synonyms A930031L14Rik
MMRRC Submission 041692-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R4410 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 22746059-23275597 bp(+) (GRCm38)
Type of Mutation intron
DNA Base Change (assembly) A to G at 22775692 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000197992]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179257
SMART Domains Protein: ENSMUSP00000136347
Gene: ENSMUSG00000094832

low complexity region 47 71 N/A INTRINSIC
low complexity region 113 122 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181209
Predicted Effect probably benign
Transcript: ENSMUST00000197992
SMART Domains Protein: ENSMUSP00000143576
Gene: ENSMUSG00000106379

low complexity region 4 18 N/A INTRINSIC
Pfam:L_HGMIC_fpl 32 209 3.8e-72 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 96% (46/48)
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. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 A T 15: 76,725,512 probably benign Het
Arrb1 G T 7: 99,598,296 probably benign Het
Cadps A G 14: 12,822,323 M139T probably damaging Het
Casr A G 16: 36,500,341 C482R probably benign Het
Cdca4 A T 12: 112,821,879 H76Q probably benign Het
Ddias A G 7: 92,858,079 L876P probably benign Het
Dnah9 T C 11: 66,085,477 S1249G possibly damaging Het
Dnttip1 A G 2: 164,767,819 probably benign Het
Eme2 A G 17: 24,893,624 S160P probably benign Het
Fbxw24 A T 9: 109,608,188 D210E probably damaging Het
Folr2 T C 7: 101,840,674 E129G probably damaging Het
Gm7682 A T 5: 94,445,861 Q15L probably benign Het
Herc6 T A 6: 57,659,679 N793K possibly damaging Het
Iqcg T G 16: 33,030,816 K262Q possibly damaging Het
Lmod2 A C 6: 24,604,630 S535R probably damaging Het
Lrp1b T A 2: 40,665,082 S342C possibly damaging Het
Lrrn3 T A 12: 41,452,584 Y578F possibly damaging Het
Map3k4 T A 17: 12,248,998 R1050W probably damaging Het
Mpp6 C T 6: 50,198,268 Q520* probably null Het
Muc6 T A 7: 141,637,663 T2301S possibly damaging Het
Mycbp2 T C 14: 103,135,266 E4048G probably damaging Het
Myh3 G C 11: 67,085,032 E297Q possibly damaging Het
Nkain3 A G 4: 20,778,284 V11A probably benign Het
Olfr1189 G A 2: 88,592,421 V206I probably benign Het
P3h2 G C 16: 26,105,290 R132G possibly damaging Het
Phgdh A G 3: 98,314,275 M447T probably benign Het
Pmfbp1 G A 8: 109,532,063 A667T probably benign Het
Psmd2 T G 16: 20,655,026 C230G probably damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Slc37a3 T A 6: 39,338,813 Y443F probably benign Het
Sorl1 C A 9: 42,003,992 G1314* probably null Het
Spag7 T C 11: 70,664,862 D83G probably damaging Het
St7 C T 6: 17,854,933 R267* probably null Het
Syne2 C T 12: 76,094,393 S99L probably damaging Het
Tacc2 T G 7: 130,742,211 S2533R possibly damaging Het
Tmem59l A G 8: 70,487,301 L6S unknown Het
Uaca T G 9: 60,869,891 V518G probably damaging Het
Usp43 T C 11: 67,855,890 E992G probably benign Het
Vmn1r55 A G 7: 5,147,076 V116A probably benign Het
Wdr3 G A 3: 100,140,227 T844M probably benign Het
Wdr7 T A 18: 63,778,249 M904K probably damaging Het
Zbtb39 A G 10: 127,742,827 I423M possibly damaging Het
Zmym1 A T 4: 127,048,104 C830* probably null Het
Other mutations in Lhfpl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3851:Lhfpl3 UTSW 5 22775987 intron probably benign
R5986:Lhfpl3 UTSW 5 22746426 missense probably benign 0.12
R6257:Lhfpl3 UTSW 5 22746559 missense probably benign
R6270:Lhfpl3 UTSW 5 23273351 nonsense probably null
R6271:Lhfpl3 UTSW 5 22746244 missense probably benign 0.02
R8198:Lhfpl3 UTSW 5 23273335 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-07