Mutagenetix > Incidental Mutation

Incidental Mutation 'R9545:Lhfpl5'

720084

Institutional Source

Beutler Lab

Gene Symbol

Lhfpl5

Ensembl Gene

ENSMUSG00000062252

Gene Name

lipoma HMGIC fusion partner-like 5

Synonyms

9330179O15Rik, Tmhs

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R9545 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28794330-28802567 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28799079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 196 (A196D)

Ref Sequence

ENSEMBL: ENSMUSP00000079598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080780]

AlphaFold

Q4KL25

Predicted Effect

probably damaging
Transcript: ENSMUST00000080780
AA Change: A196D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000079598
Gene: ENSMUSG00000062252
AA Change: A196D

Domain	Start	End	E-Value	Type
Pfam:L_HGMIC_fpl	25	202	1.5e-67	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 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

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,416,538 (GRCm39)	L4100Q	probably damaging	Het
Acss2	C	A	2: 155,403,716 (GRCm39)	P652T	probably damaging	Het
Agl	A	T	3: 116,582,338 (GRCm39)	I228N	possibly damaging	Het
Ap5m1	C	G	14: 49,311,271 (GRCm39)	Q114E	possibly damaging	Het
Apob	C	T	12: 8,033,890 (GRCm39)	T201I	possibly damaging	Het
As3mt	G	A	19: 46,696,233 (GRCm39)	V14I	probably damaging	Het
Atp1a4	T	C	1: 172,078,464 (GRCm39)	N258S	probably benign	Het
Atxn1l	C	T	8: 110,458,688 (GRCm39)	V525M	probably damaging	Het
B4galnt4	T	C	7: 140,644,804 (GRCm39)	V208A	probably benign	Het
Bet1	A	T	6: 4,077,973 (GRCm39)	S89T	probably damaging	Het
Cdhr1	T	G	14: 36,817,016 (GRCm39)	N115T	possibly damaging	Het
Cstf1	C	T	2: 172,212,885 (GRCm39)		probably benign	Het
Dcdc2c	G	T	12: 28,602,295 (GRCm39)	T3K	possibly damaging	Het
Deup1	C	T	9: 15,519,120 (GRCm39)	E129K	possibly damaging	Het
Dgkg	T	C	16: 22,385,168 (GRCm39)	E446G	possibly damaging	Het
Dolk	A	G	2: 30,176,016 (GRCm39)	S10P	probably benign	Het
Gm1110	T	C	9: 26,800,977 (GRCm39)	T406A	probably benign	Het
Gm8439	C	T	4: 120,445,957 (GRCm39)		probably benign	Het
Gna12	A	G	5: 140,746,575 (GRCm39)	I290T	probably damaging	Het
Gtf2h1	T	C	7: 46,458,112 (GRCm39)		probably null	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Itgal	T	C	7: 126,929,422 (GRCm39)	F1113S	probably damaging	Het
Kcnc3	T	C	7: 44,245,357 (GRCm39)	L549P	probably damaging	Het
Klhl26	T	C	8: 70,904,164 (GRCm39)	D582G	probably damaging	Het
Lipm	T	C	19: 34,090,392 (GRCm39)	M191T	probably benign	Het
Lrp6	A	G	6: 134,483,329 (GRCm39)	Y459H	probably damaging	Het
Lzts1	C	A	8: 69,591,286 (GRCm39)	K287N	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mmp23	T	A	4: 155,735,980 (GRCm39)	Q224L	probably benign	Het
Ms4a13	C	G	19: 11,147,332 (GRCm39)	S194T	unknown	Het
Ms4a2	A	G	19: 11,596,237 (GRCm39)	F164S	probably benign	Het
Nudt15	A	T	14: 73,760,918 (GRCm39)	C58S	probably damaging	Het
Or2w25	A	G	11: 59,504,275 (GRCm39)	T162A	probably benign	Het
Or8h6	T	C	2: 86,703,615 (GRCm39)	I151V	probably benign	Het
Or9i1	A	G	19: 13,839,217 (GRCm39)	H20R	possibly damaging	Het
Panx3	A	G	9: 37,575,437 (GRCm39)	F142L	probably damaging	Het
Pik3r6	T	C	11: 68,422,365 (GRCm39)	Y255H	probably damaging	Het
Pnpt1	T	C	11: 29,106,840 (GRCm39)	V637A	probably benign	Het
Ppfibp2	T	C	7: 107,337,504 (GRCm39)	L602P	probably damaging	Het
Ppp2r3d	T	C	9: 101,089,214 (GRCm39)	N370D	probably benign	Het
Ppp2r5d	A	T	17: 46,995,687 (GRCm39)	I454N	probably damaging	Het
Pramel17	C	A	4: 101,693,097 (GRCm39)	C301F	probably damaging	Het
Radil	A	G	5: 142,492,392 (GRCm39)	V412A	probably benign	Het
Reep3	TTGACAGATTTCATG	TTG	10: 66,850,703 (GRCm39)		probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skic3	T	A	13: 76,259,832 (GRCm39)	V44D	probably damaging	Het
Spink5	G	A	18: 44,136,262 (GRCm39)	V558I	possibly damaging	Het
Stxbp5l	T	C	16: 37,028,625 (GRCm39)		probably null	Het
Svs5	T	A	2: 164,079,313 (GRCm39)	Q198L	possibly damaging	Het
Thap2	A	T	10: 115,208,834 (GRCm39)	N95K	probably benign	Het
Tie1	A	G	4: 118,336,112 (GRCm39)	V718A	probably benign	Het
Trpm3	G	A	19: 22,878,458 (GRCm39)	E632K	probably benign	Het
Ube4a	A	T	9: 44,843,638 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,618,511 (GRCm39)	I1163T	probably benign	Het
Vav2	C	T	2: 27,173,351 (GRCm39)	R491Q	probably damaging	Het
Wapl	T	A	14: 34,399,050 (GRCm39)	F40I	probably damaging	Het
Wdfy3	A	C	5: 102,100,957 (GRCm39)	I220R		Het
Xrra1	T	A	7: 99,535,334 (GRCm39)	V213D	possibly damaging	Het
Zwilch	A	T	9: 64,051,415 (GRCm39)	V550E	probably damaging	Het

Other mutations in Lhfpl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02114:Lhfpl5	APN	17	28,795,149 (GRCm39)	missense	possibly damaging	0.49
R0885:Lhfpl5	UTSW	17	28,795,011 (GRCm39)	missense	probably damaging	1.00
R3176:Lhfpl5	UTSW	17	28,798,920 (GRCm39)	missense	possibly damaging	0.87
R3276:Lhfpl5	UTSW	17	28,798,920 (GRCm39)	missense	possibly damaging	0.87
R4747:Lhfpl5	UTSW	17	28,798,950 (GRCm39)	missense	probably damaging	1.00
R4817:Lhfpl5	UTSW	17	28,801,962 (GRCm39)	makesense	probably null
R4817:Lhfpl5	UTSW	17	28,795,300 (GRCm39)	missense	possibly damaging	0.93
R5148:Lhfpl5	UTSW	17	28,798,942 (GRCm39)	missense	probably damaging	1.00
R5447:Lhfpl5	UTSW	17	28,795,071 (GRCm39)	missense	probably damaging	1.00
R7024:Lhfpl5	UTSW	17	28,801,957 (GRCm39)	missense	probably benign	0.15
R7605:Lhfpl5	UTSW	17	28,795,305 (GRCm39)	missense	possibly damaging	0.93
R9221:Lhfpl5	UTSW	17	28,799,133 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GGGCCTAATGATCGGATGTCTAG -3'
(R):5'- TGCCAGCTTTGAACACTCCG -3'

Sequencing Primer
(F):5'- ATCGGATGTCTAGTCTACCCAGATG -3'
(R):5'- TTGAACACTCCGCTGATGG -3'

Posted On

2022-07-18