Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00640:5031410I06Rik'

277844

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 #

IGL00640

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	T	C	9: 95,747,105 (GRCm39)	V129A	probably damaging	Het
Bltp1	C	A	3: 36,962,367 (GRCm39)	H489Q	probably damaging	Het
Chd9	A	G	8: 91,712,760 (GRCm39)	E388G	probably damaging	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Gabrg2	T	G	11: 41,862,599 (GRCm39)	I162L	possibly damaging	Het
Ly9	A	T	1: 171,429,447 (GRCm39)	V103D	possibly damaging	Het
Map3k9	G	A	12: 81,776,472 (GRCm39)	T603I	probably benign	Het
Mmrn1	T	C	6: 60,954,497 (GRCm39)	L926P	probably benign	Het
Scfd1	T	A	12: 51,436,098 (GRCm39)	D82E	probably benign	Het
Vangl1	T	A	3: 102,065,545 (GRCm39)		probably benign	Het
Vps13b	A	T	15: 35,417,723 (GRCm39)	I120L	probably benign	Het

Other mutations in 5031410I06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL00795:5031410I06Rik	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