|Institutional Source||Beutler Lab|
|Gene Name||lipoma HMGIC fusion partner-like 5|
|Essential gene?||Probably non essential (E-score: 0.188)|
|Stock #||R5447 (G1)|
|Chromosomal Location||28575718-28583593 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 28576097 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 33 (T33A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079598 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080780]|
AA Change: T33A
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: T33A
|Meta Mutation Damage Score||0.5073|
|Coding Region Coverage||
|Validation Efficiency||97% (71/73)|
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 this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lhfpl5||
(F):5'- ACGACTTCTGCTCCCTAGAG -3'
(R):5'- GCCGATGATAAGGAACATGGCC -3'
(F):5'- TAGAGCTGTAGACCTGCACC -3'
(R):5'- ACATGGCAGTCTTGAAGGCTC -3'