Mutagenetix > Incidental Mutation

Incidental Mutation 'R9221:Lhfpl5'

699496

Institutional Source

Beutler Lab

Gene Symbol

Lhfpl5

Ensembl Gene

ENSMUSG00000062252

Gene Name

lipoma HMGIC fusion partner-like 5

Synonyms

9330179O15Rik, Tmhs

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R9221 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28794330-28802567 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28799133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 214 (D214V)

Ref Sequence

ENSEMBL: ENSMUSP00000079598 (fasta)

Gene Model

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

AlphaFold

Q4KL25

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080780
AA Change: D214V

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079598
Gene: ENSMUSG00000062252
AA Change: D214V

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: 99.5%
20x: 98.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,921,828 (GRCm39)	D1128G	probably damaging	Het
Acsm3	A	T	7: 119,368,131 (GRCm39)	R116*	probably null	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,989,943 (GRCm39)	D3742E	probably damaging	Het
Arhgef17	A	G	7: 100,528,818 (GRCm39)	S598P	possibly damaging	Het
Asxl2	T	C	12: 3,552,310 (GRCm39)	F1351L	probably damaging	Het
Atg7	C	T	6: 114,672,588 (GRCm39)	T267I	possibly damaging	Het
Bace2	A	G	16: 97,209,692 (GRCm39)	K202R	probably benign	Het
Bccip	G	T	7: 133,311,249 (GRCm39)	V55L	probably benign	Het
Bpifa1	T	A	2: 153,988,052 (GRCm39)	H198Q	possibly damaging	Het
Btbd7	A	G	12: 102,777,430 (GRCm39)	Y466H	probably damaging	Het
Cdc45	A	C	16: 18,605,521 (GRCm39)	S480A	probably benign	Het
Cenpe	T	C	3: 134,935,839 (GRCm39)	Y425H	possibly damaging	Het
Cep76	A	C	18: 67,767,977 (GRCm39)	M185R	probably damaging	Het
Chd5	G	T	4: 152,456,122 (GRCm39)	M930I	probably damaging	Het
Clstn2	G	T	9: 97,343,395 (GRCm39)	T684K	probably benign	Het
Col4a2	A	G	8: 11,491,943 (GRCm39)	N1270S	possibly damaging	Het
Crxos	A	G	7: 15,636,850 (GRCm39)	H141R	probably benign	Het
Dcc	A	G	18: 71,553,433 (GRCm39)	I741T	possibly damaging	Het
Ddx20	A	T	3: 105,587,685 (GRCm39)	C430*	probably null	Het
Dgki	G	A	6: 37,273,615 (GRCm39)	T12M	probably benign	Het
Dock6	T	C	9: 21,721,153 (GRCm39)	N1676S	possibly damaging	Het
Exosc6	G	A	8: 111,783,028 (GRCm39)	R9H	probably damaging	Het
Fstl5	A	G	3: 76,569,114 (GRCm39)	Q589R	probably damaging	Het
Gm4846	T	A	1: 166,324,959 (GRCm39)	Y44F	probably benign	Het
Gpr15lg	A	G	14: 36,829,352 (GRCm39)	S44P	probably damaging	Het
Gtf3c2	A	C	5: 31,326,401 (GRCm39)	I370R	probably damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hspg2	A	G	4: 137,287,726 (GRCm39)	M3696V	possibly damaging	Het
Itga1	A	T	13: 115,166,695 (GRCm39)	C167*	probably null	Het
Khdc4	T	C	3: 88,593,853 (GRCm39)	S81P	probably benign	Het
Kpna2	A	G	11: 106,880,158 (GRCm39)	S497P	probably damaging	Het
Krt77	T	A	15: 101,774,064 (GRCm39)	T197S	probably damaging	Het
Krtap6-5	T	C	16: 88,844,655 (GRCm39)	Y26C	unknown	Het
Lrrtm1	A	G	6: 77,221,596 (GRCm39)	E351G	probably damaging	Het
Mphosph9	A	G	5: 124,403,427 (GRCm39)	V867A	probably benign	Het
Mtcl1	T	A	17: 66,650,879 (GRCm39)	M1529L	probably benign	Het
Mthfr	A	T	4: 148,132,626 (GRCm39)	Q268L	probably damaging	Het
Myo1d	A	T	11: 80,565,744 (GRCm39)	N360K	probably damaging	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Or1e33	A	T	11: 73,738,108 (GRCm39)	V281E	probably damaging	Het
Or4p8	T	C	2: 88,727,255 (GRCm39)	S229G	probably benign	Het
Or5an1b	A	T	19: 12,299,336 (GRCm39)	M285K	probably damaging	Het
Or5m11	T	A	2: 85,782,185 (GRCm39)	Y259*	probably null	Het
P2rx5	A	T	11: 73,062,655 (GRCm39)	T455S	probably damaging	Het
Palld	A	T	8: 61,969,591 (GRCm39)	F1244L	unknown	Het
Pbld1	A	G	10: 62,907,829 (GRCm39)	T125A		Het
Pde3b	G	A	7: 114,014,697 (GRCm39)		probably benign	Het
Pfkm	T	C	15: 98,019,188 (GRCm39)	S180P	probably damaging	Het
Pla2g4d	T	A	2: 120,100,453 (GRCm39)	R626S	possibly damaging	Het
Postn	A	G	3: 54,282,515 (GRCm39)	E492G	possibly damaging	Het
Prph2	A	G	17: 47,230,818 (GRCm39)	D237G	probably damaging	Het
Psmd4	T	C	3: 94,942,604 (GRCm39)	H105R	probably damaging	Het
Pygl	T	C	12: 70,242,401 (GRCm39)	N685S	probably damaging	Het
Rp1	A	G	1: 4,315,266 (GRCm39)	F502S	unknown	Het
Sik1	T	C	17: 32,066,167 (GRCm39)	I607V	probably benign	Het
Slc26a3	T	A	12: 31,513,470 (GRCm39)	I464N	possibly damaging	Het
Slc38a9	A	G	13: 112,825,910 (GRCm39)	N116S	probably damaging	Het
Sorcs2	C	A	5: 36,181,910 (GRCm39)		probably null	Het
Spink5	T	C	18: 44,119,367 (GRCm39)	L226P	probably damaging	Het
Tab1	G	A	15: 80,034,754 (GRCm39)	V180I	probably benign	Het
Tacc2	T	G	7: 130,226,058 (GRCm39)	S914R	probably damaging	Het
Tacc2	C	T	7: 130,226,209 (GRCm39)	R965C	probably benign	Het
Tlr9	A	G	9: 106,101,972 (GRCm39)	D421G	probably damaging	Het
Tmem181a	T	C	17: 6,307,265 (GRCm39)	L16P	probably damaging	Het
Trim58	A	T	11: 58,542,075 (GRCm39)	H345L	probably damaging	Het
Ttc13	G	A	8: 125,400,290 (GRCm39)	R688C	probably benign	Het
Ube2o	C	A	11: 116,433,664 (GRCm39)	V685L	probably damaging	Het
Uso1	A	G	5: 92,335,173 (GRCm39)	H511R	probably benign	Het
Vmn2r5	A	T	3: 64,411,721 (GRCm39)	Y282*	probably null	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
R9545:Lhfpl5	UTSW	17	28,799,079 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCGGATGTCTAGTCTACCCAG -3'
(R):5'- CTGAATAGCCTGCCAGCTTTG -3'

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

Posted On

2022-02-07