Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02687:Gm7995'

303593

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm7995

Ensembl Gene

ENSMUSG00000094157

Gene Name

predicted gene 7995

Synonyms

Gm3586

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02687

Quality Score

Status

Chromosome

Chromosomal Location

42132167-42147351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42133362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 81 (I81V)

Ref Sequence

ENSEMBL: ENSMUSP00000087222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089789]

AlphaFold

K7N665

Predicted Effect

probably damaging
Transcript: ENSMUST00000089789
AA Change: I81V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087222
Gene: ENSMUSG00000094157
AA Change: I81V

Domain	Start	End	E-Value	Type
Pfam:Takusan	3	86	2.4e-35	PFAM
coiled coil region	101	134	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000171967
AA Change: I80V

SMART Domains

Protein: ENSMUSP00000132956
Gene: ENSMUSG00000094157
AA Change: I80V

Domain	Start	End	E-Value	Type
Pfam:Takusan	5	85	2.5e-27	PFAM
coiled coil region	100	133	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,005,058 (GRCm39)	V1315A	probably damaging	Het
Adam2	A	T	14: 66,306,639 (GRCm39)	C117S	probably damaging	Het
Arpp21	T	A	9: 111,894,883 (GRCm39)	R792*	probably null	Het
Atp13a3	A	G	16: 30,156,369 (GRCm39)	M938T	probably damaging	Het
Atp6v0a2	C	T	5: 124,791,206 (GRCm39)	T545M	possibly damaging	Het
BC051019	T	C	7: 109,315,559 (GRCm39)	D84G	possibly damaging	Het
Bdkrb1	T	A	12: 105,571,091 (GRCm39)	L219H	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cfap46	T	C	7: 139,187,117 (GRCm39)	D2415G	probably damaging	Het
Csgalnact2	T	C	6: 118,101,376 (GRCm39)		probably null	Het
Cyp4a29	T	C	4: 115,108,397 (GRCm39)	C374R	probably damaging	Het
Dgkb	C	A	12: 38,680,628 (GRCm39)	P776Q	possibly damaging	Het
Duox1	A	T	2: 122,166,896 (GRCm39)	K1005M	probably damaging	Het
Dusp6	C	A	10: 99,102,044 (GRCm39)	F343L	probably damaging	Het
Espl1	C	T	15: 102,221,613 (GRCm39)		probably benign	Het
Filip1l	T	C	16: 57,391,490 (GRCm39)	S455P	probably benign	Het
Lingo4	T	C	3: 94,309,404 (GRCm39)	L114P	probably damaging	Het
Mfsd6	A	G	1: 52,747,834 (GRCm39)	S344P	probably damaging	Het
Mpc1	G	A	17: 8,515,975 (GRCm39)	S162N	probably benign	Het
Myh11	T	A	16: 14,030,482 (GRCm39)	K1143*	probably null	Het
Nek10	T	C	14: 14,840,570 (GRCm38)	L152P	probably damaging	Het
Or52ab7	C	T	7: 102,978,607 (GRCm39)	R305*	probably null	Het
Or5ak25	T	A	2: 85,268,930 (GRCm39)	N191Y	possibly damaging	Het
Or6c217	T	C	10: 129,737,971 (GRCm39)	M203V	probably benign	Het
Rab11a	A	G	9: 64,633,980 (GRCm39)	I119T	probably damaging	Het
Spata31d1d	T	A	13: 59,875,678 (GRCm39)	H619L	possibly damaging	Het
Ulk4	A	T	9: 121,021,728 (GRCm39)	V661E	possibly damaging	Het
Vmn1r199	T	C	13: 22,566,961 (GRCm39)	V85A	possibly damaging	Het

Other mutations in Gm7995

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4883:Gm7995	UTSW	14	42,133,383 (GRCm39)	missense	probably damaging	1.00
R5273:Gm7995	UTSW	14	42,133,413 (GRCm39)	missense	probably damaging	1.00
R6490:Gm7995	UTSW	14	42,133,327 (GRCm39)	missense	probably benign	0.39
R7448:Gm7995	UTSW	14	42,132,302 (GRCm39)	missense
R7505:Gm7995	UTSW	14	42,132,314 (GRCm39)	missense
R7647:Gm7995	UTSW	14	42,133,308 (GRCm39)	missense	possibly damaging	0.89
R8383:Gm7995	UTSW	14	42,133,321 (GRCm39)	missense
R8943:Gm7995	UTSW	14	42,132,228 (GRCm39)	missense	probably damaging	1.00
R9682:Gm7995	UTSW	14	42,133,395 (GRCm39)	missense

Posted On

2015-04-16