Mutagenetix > Incidental Mutation

Incidental Mutation 'R2962:Lhfpl7'

255921

Institutional Source

Beutler Lab

Gene Symbol

Lhfpl7

Ensembl Gene

ENSMUSG00000066964

Gene Name

LHFPL tetraspan subfamily member 7

Synonyms

Tmem211, LOC333048

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2962 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113374775-113387129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113385922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 123 (V123A)

Ref Sequence

ENSEMBL: ENSMUSP00000083808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086615]

AlphaFold

Q3UUA0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086615
AA Change: V123A

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000083808
Gene: ENSMUSG00000066964
AA Change: V123A

Domain	Start	End	E-Value	Type
Pfam:L_HGMIC_fpl	6	176	2.4e-20	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd24a	A	G	10: 43,455,313 (GRCm39)	T22A	probably benign	Het
Cdk5rap2	ATGTG	ATG	4: 70,208,214 (GRCm39)		probably null	Het
Cog3	A	G	14: 75,977,974 (GRCm39)		probably null	Het
Gm3371	A	T	14: 44,646,155 (GRCm39)	N103K	probably benign	Het
Gpd2	C	T	2: 57,228,987 (GRCm39)	R264*	probably null	Het
Hoxc10	A	G	15: 102,875,735 (GRCm39)	Y148C	probably damaging	Het
Jade1	C	G	3: 41,567,762 (GRCm39)	T610S	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Malt1	A	G	18: 65,581,406 (GRCm39)	H278R	probably benign	Het
Mlxip	C	A	5: 123,578,887 (GRCm39)	R178S	probably damaging	Het
Or13a25	A	T	7: 140,247,862 (GRCm39)	M214L	probably benign	Het
Pdxk	A	G	10: 78,279,667 (GRCm39)	L236P	probably damaging	Het
Plekhg3	G	A	12: 76,619,433 (GRCm39)		probably null	Het
Rufy2	G	T	10: 62,836,039 (GRCm39)	V323F	probably damaging	Het
Serpinb7	A	G	1: 107,379,456 (GRCm39)	T288A	probably benign	Het
Tet1	A	T	10: 62,650,323 (GRCm39)	C1628*	probably null	Het
Tgtp2	A	G	11: 48,950,363 (GRCm39)	S70P	probably damaging	Het
Trank1	C	T	9: 111,181,148 (GRCm39)	T390I	probably damaging	Het
Trim31	T	C	17: 37,210,796 (GRCm39)	S143P	probably damaging	Het
Ube3c	C	A	5: 29,863,416 (GRCm39)	A897D	possibly damaging	Het
Unc79	A	T	12: 103,061,378 (GRCm39)	T1050S	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	Het

Other mutations in Lhfpl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Lhfpl7	APN	5	113,383,869 (GRCm39)	missense	probably benign	0.00
R0518:Lhfpl7	UTSW	5	113,383,873 (GRCm39)	nonsense	probably null
R1833:Lhfpl7	UTSW	5	113,382,435 (GRCm39)	splice site	probably benign
R4906:Lhfpl7	UTSW	5	113,386,036 (GRCm39)	missense	probably benign	0.00
R6592:Lhfpl7	UTSW	5	113,382,329 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCTACAGTGGATAGAGAGATGGG -3'
(R):5'- GCTCTCTGGACTGTGGTCAC -3'

Sequencing Primer
(F):5'- TCAATGGATGGATGAGTAGTTGAG -3'
(R):5'- GTCACTTGCCACCTGATGACAAG -3'

Posted On

2014-12-29