Incidental Mutation 'R3851:Lhfpl3'
ID 275914
Institutional Source Beutler Lab
Gene Symbol Lhfpl3
Ensembl Gene ENSMUSG00000106379
Gene Name lipoma HMGIC fusion partner-like 3
Synonyms A930031L14Rik
MMRRC Submission 040899-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R3851 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 22951057-23480595 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 22980985 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
Pfam:L_HGMIC_fpl 32 209 3.8e-72 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (36/36)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 G A 7: 101,039,372 (GRCm39) W544* probably null Het
AY358078 A G 14: 52,043,010 (GRCm39) T233A unknown Het
Bcl9 G A 3: 97,116,969 (GRCm39) P575L probably damaging Het
Calcr T C 6: 3,693,735 (GRCm39) Y353C probably damaging Het
Cry1 C A 10: 84,982,363 (GRCm39) A328S probably benign Het
Dclre1a A T 19: 56,529,939 (GRCm39) N799K probably damaging Het
Dnm3 A T 1: 162,148,696 (GRCm39) probably null Het
Dock9 A T 14: 121,866,498 (GRCm39) probably null Het
Dpysl4 C T 7: 138,680,851 (GRCm39) T575M probably damaging Het
Drc7 C T 8: 95,788,464 (GRCm39) Q276* probably null Het
Dzip3 T C 16: 48,770,376 (GRCm39) T389A possibly damaging Het
Flnc T A 6: 29,453,718 (GRCm39) L1801Q probably damaging Het
Fmo9 A G 1: 166,490,936 (GRCm39) L463P probably benign Het
Fnip2 G C 3: 79,369,464 (GRCm39) H1074D probably damaging Het
Golga2 A G 2: 32,195,623 (GRCm39) E806G probably benign Het
H2-Q5 T A 17: 35,613,115 (GRCm39) M5K unknown Het
Il27ra C T 8: 84,767,317 (GRCm39) E169K probably benign Het
Insyn2a A G 7: 134,486,255 (GRCm39) V432A probably benign Het
Itpkc A T 7: 26,927,037 (GRCm39) N292K probably benign Het
Map4k3 A G 17: 80,951,752 (GRCm39) probably benign Het
Mas1 C G 17: 13,060,880 (GRCm39) S181T probably benign Het
Ntn1 C G 11: 68,276,619 (GRCm39) D110H probably damaging Het
Nubpl T C 12: 52,190,810 (GRCm39) M65T probably damaging Het
Or6c76b A C 10: 129,693,016 (GRCm39) M210L probably benign Het
Parp14 A G 16: 35,674,118 (GRCm39) I1042T possibly damaging Het
Pcdh15 C A 10: 74,467,518 (GRCm39) S1779Y probably damaging Het
Pgm5 C T 19: 24,797,567 (GRCm39) R205Q probably damaging Het
Radil T C 5: 142,492,752 (GRCm39) D292G probably damaging Het
Rbp3 C A 14: 33,677,464 (GRCm39) H471N probably damaging Het
Rgs14 T A 13: 55,527,427 (GRCm39) L221Q possibly damaging Het
Rrm2 G T 12: 24,758,598 (GRCm39) A47S probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slco4a1 C T 2: 180,105,884 (GRCm39) T22M probably benign Het
Sult2b1 G T 7: 45,379,461 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Ttn G T 2: 76,581,678 (GRCm39) L23072I possibly damaging Het
Zfp521 T C 18: 13,850,808 (GRCm39) probably benign Het
Other mutations in Lhfpl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4410:Lhfpl3 UTSW 5 22,980,690 (GRCm39) intron probably benign
R5986:Lhfpl3 UTSW 5 22,951,424 (GRCm39) missense probably benign 0.12
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'- TCCTCGAGTCAAACTCTCACTCT -3'
(R):5'- GGCTGTGAGGAGTTTGATAAGGA -3'

Sequencing Primer
(F):5'- GAGTCAAACTCTCACTCTCTCTC -3'
(R):5'- GCAGCCCAATGAGCTGAGTTTG -3'
Posted On 2015-04-06