Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02387:Gm8165'

291578

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm8165

Ensembl Gene

ENSMUSG00000093968

Gene Name

predicted gene 8165

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02387

Quality Score

Status

Chromosome

Chromosomal Location

43909419-43914656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43913696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 56 (E56G)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095981
AA Change: E56G

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093679
Gene: ENSMUSG00000093968
AA Change: E56G

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	137	1.8e-26	PFAM
coiled coil region	164	186	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228384

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Acap3	T	G	4: 155,986,617 (GRCm39)	L311R	probably damaging	Het
Actr6	T	A	10: 89,550,846 (GRCm39)	N316I	probably damaging	Het
Adarb2	T	A	13: 8,619,994 (GRCm39)	V160E	probably damaging	Het
Atm	A	T	9: 53,391,066 (GRCm39)		probably null	Het
Atp2b4	T	C	1: 133,659,627 (GRCm39)	N445S	probably damaging	Het
Clic6	A	G	16: 92,326,807 (GRCm39)	D464G	probably damaging	Het
Clk2	C	T	3: 89,083,698 (GRCm39)		probably benign	Het
Cyp4f40	A	C	17: 32,886,984 (GRCm39)	T152P	probably damaging	Het
Dpp8	A	T	9: 64,952,998 (GRCm39)	I225F	probably damaging	Het
Dspp	A	G	5: 104,323,490 (GRCm39)	Q211R	possibly damaging	Het
Gja1	T	A	10: 56,263,902 (GRCm39)	V87E	possibly damaging	Het
Gstp2	T	A	19: 4,091,094 (GRCm39)		probably benign	Het
Gucy2e	A	G	11: 69,126,942 (GRCm39)	V177A	probably benign	Het
Insrr	G	A	3: 87,720,434 (GRCm39)	R1024H	probably damaging	Het
Iqgap2	A	G	13: 95,826,209 (GRCm39)	W538R	probably benign	Het
Lrrc71	T	C	3: 87,650,378 (GRCm39)	I232V	probably damaging	Het
Mphosph8	T	A	14: 56,933,178 (GRCm39)	N808K	probably damaging	Het
Or8h10	T	A	2: 86,808,193 (GRCm39)	R316*	probably null	Het
Pak6	T	C	2: 118,523,714 (GRCm39)	S290P	probably benign	Het
Ptpro	C	T	6: 137,387,978 (GRCm39)	A734V	probably damaging	Het
Reg1	A	T	6: 78,404,321 (GRCm39)	N65I	probably damaging	Het
Rnf17	T	G	14: 56,738,044 (GRCm39)	I1275S	probably damaging	Het
Sfrp5	C	T	19: 42,187,468 (GRCm39)	V201I	probably benign	Het
Sgsm1	T	A	5: 113,400,929 (GRCm39)	H987L	possibly damaging	Het
Shank1	A	T	7: 44,006,361 (GRCm39)	Y2026F	possibly damaging	Het
Slc15a2	T	C	16: 36,572,137 (GRCm39)		probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Taar8a	T	A	10: 23,953,260 (GRCm39)	I288N	possibly damaging	Het
Tpbpb	T	G	13: 61,049,668 (GRCm39)	*121C	probably null	Het
Trim29	A	T	9: 43,236,149 (GRCm39)	N460I	probably benign	Het
Trp53tg5	T	A	2: 164,313,376 (GRCm39)	I100F	possibly damaging	Het
Ubr2	T	C	17: 47,274,076 (GRCm39)	T871A	probably benign	Het
Vrk1	A	G	12: 106,036,803 (GRCm39)	E363G	probably damaging	Het
Zfyve19	C	T	2: 119,046,907 (GRCm39)		probably benign	Het

Other mutations in Gm8165

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01352:Gm8165	APN	14	43,913,573 (GRCm39)	missense	unknown
IGL01729:Gm8165	APN	14	43,910,186 (GRCm39)	missense	unknown
IGL02728:Gm8165	APN	14	43,913,694 (GRCm39)	missense	unknown

Posted On

2015-04-16