Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02515:Gm5239'

296718

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5239

Ensembl Gene

ENSMUSG00000062742

Gene Name

predicted pseudogene 5239

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02515

Quality Score

Status

Chromosome

Chromosomal Location

35669636-35670000 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35669787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 51 (E51G)

Ref Sequence

ENSEMBL: ENSMUSP00000080543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081864]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000081864
AA Change: E51G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080543
Gene: ENSMUSG00000062742
AA Change: E51G

Domain	Start	End	E-Value	Type
UBQ	1	72	7.75e-34	SMART
Ribosomal_L40e	71	122	1.23e-25	SMART

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
Acaca	A	G	11: 84,153,229 (GRCm39)	D879G	probably benign	Het
Atp6v0d2	A	T	4: 19,880,063 (GRCm39)	F278Y	possibly damaging	Het
Cip2a	A	G	16: 48,826,096 (GRCm39)	T388A	possibly damaging	Het
Dapk3	T	C	10: 81,025,763 (GRCm39)		probably benign	Het
Dpysl4	A	T	7: 138,676,651 (GRCm39)	D367V	probably damaging	Het
E330034G19Rik	T	A	14: 24,348,052 (GRCm39)	D101E	possibly damaging	Het
Epb41l1	G	A	2: 156,378,933 (GRCm39)	E811K	probably damaging	Het
Fsd1	T	A	17: 56,303,303 (GRCm39)	V424E	probably null	Het
Ggt5	G	A	10: 75,425,604 (GRCm39)	V21I	probably benign	Het
Gpr156	A	G	16: 37,826,041 (GRCm39)	S753G	probably damaging	Het
Grid1	A	T	14: 35,174,302 (GRCm39)	Y648F	probably damaging	Het
Hmgcr	T	C	13: 96,803,020 (GRCm39)		probably benign	Het
Insc	A	G	7: 114,368,243 (GRCm39)	D11G	probably damaging	Het
Mmp9	A	G	2: 164,790,876 (GRCm39)	D88G	probably damaging	Het
Mtmr10	C	T	7: 63,987,259 (GRCm39)	R600W	probably damaging	Het
Nlrc3	C	A	16: 3,767,323 (GRCm39)		probably benign	Het
Or5b116	T	A	19: 13,422,472 (GRCm39)	I32N	probably damaging	Het
Or8g51	T	C	9: 38,609,087 (GRCm39)	T196A	probably benign	Het
Pdcd11	A	T	19: 47,113,516 (GRCm39)	D1323V	probably damaging	Het
Rgl3	T	C	9: 21,885,396 (GRCm39)	R645G	possibly damaging	Het
Rnf2	A	T	1: 151,347,446 (GRCm39)	D137E	probably benign	Het
Smchd1	T	C	17: 71,747,952 (GRCm39)	H430R	probably damaging	Het
Sptb	A	G	12: 76,653,261 (GRCm39)	V1534A	possibly damaging	Het
Stip1	T	C	19: 6,999,487 (GRCm39)	T432A	probably benign	Het
Tnfsf14	T	C	17: 57,499,600 (GRCm39)	D84G	probably benign	Het
Ube2o	A	G	11: 116,434,525 (GRCm39)	V601A	probably damaging	Het
Vmn1r215	T	C	13: 23,259,990 (GRCm39)	I10T	probably benign	Het
Vtn	A	T	11: 78,392,480 (GRCm39)	I353F	probably damaging	Het

Other mutations in Gm5239

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0317:Gm5239	UTSW	18	35,669,969 (GRCm39)	missense	probably benign	0.01
R7532:Gm5239	UTSW	18	35,669,795 (GRCm39)	missense	probably benign	0.00
R9223:Gm5239	UTSW	18	35,669,672 (GRCm39)	missense	possibly damaging	0.93
X0025:Gm5239	UTSW	18	35,669,912 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16