Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00795:5031410I06Rik'

277966

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

5031410I06Rik

Ensembl Gene

ENSMUSG00000051940

Gene Name

RIKEN cDNA 5031410I06 gene

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00795

Quality Score

Status

Chromosome

Chromosomal Location

26303666-26310312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26309153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 50 (R50G)

Ref Sequence

ENSEMBL: ENSMUSP00000069697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063524]

AlphaFold

E9Q4E0

Predicted Effect

probably damaging
Transcript: ENSMUST00000063524
AA Change: R50G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069697
Gene: ENSMUSG00000051940
AA Change: R50G

Domain	Start	End	E-Value	Type
Pfam:Takusan	49	135	2.1e-18	PFAM
coiled coil region	196	223	N/A	INTRINSIC
low complexity region	247	261	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1m1	A	G	8: 73,007,353 (GRCm39)	N308S	probably damaging	Het
Bub1	A	G	2: 127,663,735 (GRCm39)	V222A	probably benign	Het
Ccdc91	G	T	6: 147,409,305 (GRCm39)	D4Y	probably damaging	Het
Defb21	A	G	2: 152,416,665 (GRCm39)	D47G	probably benign	Het
Dnah17	C	A	11: 117,984,460 (GRCm39)	C1607F	probably benign	Het
Hycc2	C	T	1: 58,591,338 (GRCm39)	E102K	probably damaging	Het
Insc	T	C	7: 114,441,389 (GRCm39)	L401P	probably damaging	Het
Kif18a	A	T	2: 109,123,365 (GRCm39)	N213I	probably damaging	Het
Mapre1	A	G	2: 153,588,234 (GRCm39)	D19G	probably damaging	Het
Mettl8	A	T	2: 70,812,434 (GRCm39)	I32N	probably damaging	Het
Mroh9	T	A	1: 162,888,191 (GRCm39)	T295S	probably damaging	Het
Pum3	T	A	19: 27,399,758 (GRCm39)	Y225F	probably damaging	Het
Tas2r131	G	A	6: 132,934,554 (GRCm39)	T85I	possibly damaging	Het
Tbcd	T	G	11: 121,507,758 (GRCm39)	I1193S	probably benign	Het
Tgoln1	C	T	6: 72,593,235 (GRCm39)	A82T	probably benign	Het

Other mutations in 5031410I06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00640:5031410I06Rik	APN	5	26,309,153 (GRCm39)	missense	probably damaging	0.99
IGL00783:5031410I06Rik	APN	5	26,309,153 (GRCm39)	missense	probably damaging	0.99
IGL00793:5031410I06Rik	APN	5	26,309,153 (GRCm39)	missense	probably damaging	0.99
R6194:5031410I06Rik	UTSW	5	26,309,033 (GRCm39)	missense	probably benign	0.08

Posted On

2015-04-16