Incidental Mutation 'R5986:Lhfpl3'
ID 481644
Institutional Source Beutler Lab
Gene Symbol Lhfpl3
Ensembl Gene ENSMUSG00000106379
Gene Name lipoma HMGIC fusion partner-like 3
Synonyms A930031L14Rik
MMRRC Submission 044166-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R5986 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 22951057-23480595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 22951424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 78 (N78K)
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: ENSMUST00000181209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197486
Predicted Effect probably benign
Transcript: ENSMUST00000197992
AA Change: N78K

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143576
Gene: ENSMUSG00000106379
AA Change: N78K

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
Pfam:L_HGMIC_fpl 32 209 3.8e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199056
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
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. 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A T 3: 116,566,145 (GRCm39) F992I probably damaging Het
Ampd1 T C 3: 102,992,713 (GRCm39) F152L probably damaging Het
Ank2 T C 3: 126,806,335 (GRCm39) H602R possibly damaging Het
Ankib1 T C 5: 3,797,071 (GRCm39) D247G probably damaging Het
Bccip T A 7: 133,322,594 (GRCm39) H313Q probably benign Het
Ccdc198 A T 14: 49,470,403 (GRCm39) L172H probably damaging Het
Cep250 A G 2: 155,821,197 (GRCm39) E929G probably damaging Het
Chl1 C A 6: 103,686,152 (GRCm39) L954I probably benign Het
Cog5 A T 12: 31,710,716 (GRCm39) D32V probably benign Het
Cyp4f16 C A 17: 32,763,116 (GRCm39) A187E probably benign Het
Dffb A T 4: 154,050,050 (GRCm39) V271E probably damaging Het
Dnah8 A G 17: 31,070,604 (GRCm39) Y4430C possibly damaging Het
Dpp3 T C 19: 4,968,385 (GRCm39) E229G probably benign Het
Fat3 T A 9: 15,909,613 (GRCm39) N2130Y probably benign Het
Kcnk3 T C 5: 30,745,722 (GRCm39) V21A possibly damaging Het
Kif9 G A 9: 110,319,094 (GRCm39) S186N probably benign Het
Ly6c1 A G 15: 74,917,457 (GRCm39) S64P probably damaging Het
Mapk10 T C 5: 103,186,446 (GRCm39) T59A probably benign Het
Mars1 A T 10: 127,140,171 (GRCm39) C394* probably null Het
Mettl16 T A 11: 74,683,063 (GRCm39) D168E possibly damaging Het
Mgat2 A T 12: 69,232,158 (GRCm39) Q244L probably benign Het
Mrps30 A G 13: 118,521,101 (GRCm39) probably null Het
Myrip C A 9: 120,290,487 (GRCm39) A702E probably damaging Het
Nepn T C 10: 52,280,168 (GRCm39) L420P probably damaging Het
Nrn1 A T 13: 36,918,238 (GRCm39) Y9* probably null Het
Nup107 T C 10: 117,595,081 (GRCm39) Y752C probably damaging Het
Nutm2 A T 13: 50,628,496 (GRCm39) D520V probably damaging Het
Olfm2 C T 9: 20,586,946 (GRCm39) C48Y probably damaging Het
Or52j3 T C 7: 102,836,735 (GRCm39) F309S possibly damaging Het
Or8g19 A G 9: 39,056,278 (GRCm39) N294S probably null Het
Osbpl1a T A 18: 13,038,138 (GRCm39) D271V probably damaging Het
Osmr G T 15: 6,873,934 (GRCm39) D154E probably benign Het
Pcdh9 A G 14: 94,124,484 (GRCm39) V562A probably damaging Het
Peak1 A C 9: 56,166,726 (GRCm39) S401A probably benign Het
Pigk A T 3: 152,446,486 (GRCm39) H195L probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Ppp2r1a C T 17: 21,171,608 (GRCm39) R28C probably damaging Het
Pramel30 G T 4: 144,059,323 (GRCm39) V345F probably damaging Het
Ptbp3 T C 4: 59,493,311 (GRCm39) D123G probably benign Het
Ptgr2 G A 12: 84,355,120 (GRCm39) E285K possibly damaging Het
Rassf1 G T 9: 107,429,021 (GRCm39) V76L possibly damaging Het
Sec22a A G 16: 35,134,461 (GRCm39) V307A probably damaging Het
Skint5 C T 4: 113,852,845 (GRCm39) V18I probably benign Het
Slc1a5 T C 7: 16,516,151 (GRCm39) V109A probably benign Het
St8sia5 T A 18: 77,342,478 (GRCm39) M396K possibly damaging Het
Tiam1 T C 16: 89,586,074 (GRCm39) E602G probably benign Het
Tll1 T C 8: 64,527,297 (GRCm39) E408G probably damaging Het
Tpsb2 G A 17: 25,586,108 (GRCm39) V109M probably benign Het
Trib1 T A 15: 59,526,451 (GRCm39) probably null Het
Trio G T 15: 27,852,019 (GRCm39) A765E possibly damaging Het
Uggt2 A T 14: 119,286,838 (GRCm39) V193E probably damaging Het
Vmn1r115 G A 7: 20,578,447 (GRCm39) P155L probably benign Het
Wdr31 A G 4: 62,374,113 (GRCm39) L292S probably benign Het
Xrra1 T C 7: 99,525,462 (GRCm39) I127T probably benign Het
Yju2 G A 17: 56,269,030 (GRCm39) C46Y probably damaging Het
Zfp442 G A 2: 150,249,944 (GRCm39) Q596* probably null Het
Other mutations in Lhfpl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3851:Lhfpl3 UTSW 5 22,980,985 (GRCm39) intron probably benign
R4410:Lhfpl3 UTSW 5 22,980,690 (GRCm39) intron probably benign
R6257:Lhfpl3 UTSW 5 22,951,557 (GRCm39) missense probably benign
R6270:Lhfpl3 UTSW 5 23,478,349 (GRCm39) nonsense probably null
R6271:Lhfpl3 UTSW 5 22,951,242 (GRCm39) missense probably benign 0.02
R8198:Lhfpl3 UTSW 5 23,478,333 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCAACTATGTGCGGAACTCG -3'
(R):5'- GATTAAGTTGTCCCGGACTGGC -3'

Sequencing Primer
(F):5'- GGAACTCGCGGGCCATC -3'
(R):5'- CAAGCACAGATCTTGTACACGGTG -3'
Posted On 2017-06-26