Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01823:Gm8206'

154604

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm8206

Ensembl Gene

ENSMUSG00000091568

Gene Name

predicted gene 8206

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01823

Quality Score

Status

Chromosome

Chromosomal Location

16431564-16453014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6017078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 133 (D133E)

Ref Sequence

ENSEMBL: ENSMUSP00000127533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164139] [ENSMUST00000168733] [ENSMUST00000171428]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000164139

SMART Domains

Protein: ENSMUSP00000128269
Gene: ENSMUSG00000091568

Domain	Start	End	E-Value	Type
Pfam:Takusan	1	57	2.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168733

SMART Domains

Protein: ENSMUSP00000129374
Gene: ENSMUSG00000091568

Domain	Start	End	E-Value	Type
Pfam:Takusan	46	129	1.2e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171428
AA Change: D133E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127533
Gene: ENSMUSG00000091568
AA Change: D133E

Domain	Start	End	E-Value	Type
Pfam:Takusan	1	56	1.2e-16	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp6	A	G	13: 38,682,798 (GRCm39)	T460A	probably damaging	Het
Cd209a	T	C	8: 3,798,851 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,212,391 (GRCm39)	L1250P	probably damaging	Het
Evc	T	C	5: 37,485,865 (GRCm39)	N104D	probably damaging	Het
Fam161a	A	T	11: 22,965,785 (GRCm39)	E26V	probably damaging	Het
Foxa3	T	C	7: 18,748,443 (GRCm39)	T228A	probably benign	Het
Ighv1-15	T	A	12: 114,621,212 (GRCm39)	T38S	probably benign	Het
Ikzf1	A	G	11: 11,719,091 (GRCm39)	D266G	possibly damaging	Het
Man2a1	T	C	17: 64,973,819 (GRCm39)	I365T	probably damaging	Het
Mcm4	T	C	16: 15,443,995 (GRCm39)	D756G	probably damaging	Het
Mroh9	G	A	1: 162,883,178 (GRCm39)	L434F	probably benign	Het
Or13p4	A	G	4: 118,546,918 (GRCm39)	C244R	probably damaging	Het
Or14c45	T	C	7: 86,176,249 (GRCm39)	C95R	probably damaging	Het
Phldb2	T	A	16: 45,645,507 (GRCm39)	Y313F	probably damaging	Het
Psd4	A	G	2: 24,284,444 (GRCm39)	S103G	probably benign	Het
Ripk4	T	C	16: 97,556,483 (GRCm39)	I87V	possibly damaging	Het
Scn9a	A	T	2: 66,314,386 (GRCm39)	F1766L	probably damaging	Het
Slc10a5	A	T	3: 10,399,574 (GRCm39)	V362D	possibly damaging	Het
Slc12a3	A	G	8: 95,083,724 (GRCm39)	D917G	probably benign	Het
Slc30a4	A	G	2: 122,544,012 (GRCm39)	V110A	probably damaging	Het
Slc30a8	A	G	15: 52,159,358 (GRCm39)		probably benign	Het
Slc5a8	T	A	10: 88,755,334 (GRCm39)	C480*	probably null	Het
Tmppe	A	G	9: 114,234,175 (GRCm39)	K158R	probably benign	Het
Tubb6	A	G	18: 67,535,343 (GRCm39)	N414S	probably damaging	Het
Wnt8a	A	T	18: 34,677,846 (GRCm39)	T85S	possibly damaging	Het

Other mutations in Gm8206

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02744:Gm8206	APN	14	6,022,488 (GRCm38)	missense	possibly damaging	0.47
R1933:Gm8206	UTSW	14	6,022,475 (GRCm38)	missense	probably benign	0.19
R7650:Gm8206	UTSW	14	6,055,211 (GRCm38)	splice site	probably null

Posted On

2014-02-04