Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00225:Gm8356'

306785

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm8356

Ensembl Gene

ENSMUSG00000090627

Gene Name

predicted gene 8356

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00225

Quality Score

Status

Chromosome

Chromosomal Location

15932483-15941161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17693287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 24 (K24E)

Ref Sequence

ENSEMBL: ENSMUSP00000137204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163636] [ENSMUST00000164917] [ENSMUST00000178896]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163636
AA Change: K24E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127661
Gene: ENSMUSG00000090627
AA Change: K24E

Domain	Start	End	E-Value	Type
Pfam:Takusan	46	129	1.9e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164917
AA Change: K24E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133130
Gene: ENSMUSG00000090627
AA Change: K24E

Domain	Start	End	E-Value	Type
Pfam:Takusan	46	129	4.4e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178896
AA Change: K24E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137204
Gene: ENSMUSG00000090627
AA Change: K24E

Domain	Start	End	E-Value	Type
Pfam:Takusan	46	129	1.9e-36	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Flii	T	C	11: 60,614,241 (GRCm39)	N93D	probably benign	Het
Hars1	G	A	18: 36,901,225 (GRCm39)	T409M	probably damaging	Het
Ivns1abp	A	G	1: 151,226,863 (GRCm39)		probably null	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kdm4c	T	G	4: 74,263,804 (GRCm39)	V696G	probably benign	Het
Klrb1f	T	A	6: 129,030,138 (GRCm39)		probably benign	Het
Lrp4	G	A	2: 91,325,371 (GRCm39)	V1399I	probably benign	Het
LTO1	G	A	7: 144,471,405 (GRCm39)	G86D	possibly damaging	Het
Mki67	A	G	7: 135,291,849 (GRCm39)	V3168A	probably benign	Het
Nf1	T	A	11: 79,286,731 (GRCm39)	I177K	probably damaging	Het
Nnt	A	T	13: 119,506,533 (GRCm39)	N371K	probably damaging	Het
Or13a27	A	G	7: 139,925,123 (GRCm39)	Y260H	probably damaging	Het
Or5p52	C	T	7: 107,502,311 (GRCm39)	P129L	probably damaging	Het
Prkdc	G	T	16: 15,627,508 (GRCm39)	V3389L	possibly damaging	Het
Prr16	T	A	18: 51,436,192 (GRCm39)	Y224N	possibly damaging	Het
Ptgs1	G	A	2: 36,127,231 (GRCm39)	C39Y	probably damaging	Het
Sla	T	C	15: 66,654,479 (GRCm39)	D269G	possibly damaging	Het
Stk38l	T	A	6: 146,659,971 (GRCm39)	M1K	probably null	Het
Trim24	T	A	6: 37,880,583 (GRCm39)	N160K	possibly damaging	Het
Zfp451	A	G	1: 33,825,621 (GRCm39)		probably benign	Het

Other mutations in Gm8356

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6302:Gm8356	UTSW	14	17,691,275 (GRCm39)	missense	probably damaging	1.00
R7484:Gm8356	UTSW	14	17,691,282 (GRCm39)	missense	probably benign	0.16
R8013:Gm8356	UTSW	14	17,692,450 (GRCm39)	missense	probably damaging	0.98
R8014:Gm8356	UTSW	14	17,692,450 (GRCm39)	missense	probably damaging	0.98
R9525:Gm8356	UTSW	14	17,691,339 (GRCm39)	missense

Posted On

2015-04-16