Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01666:D630039A03Rik'

103314

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D630039A03Rik

Ensembl Gene

Gene Name

RIKEN cDNA D630039A03 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01666

Quality Score

Status

Chromosome

Chromosomal Location

57908483-57916297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57910570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 81 (V81I)

Ref Sequence

ENSEMBL: ENSMUSP00000068932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063816]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063816
AA Change: V81I

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	A	1: 25,499,832 (GRCm39)	A664S	probably damaging	Het
Ankrd61	T	A	5: 143,827,954 (GRCm39)	L297F	probably damaging	Het
Chrnd	A	T	1: 87,126,458 (GRCm39)	S513C	possibly damaging	Het
Col24a1	G	A	3: 145,050,447 (GRCm39)	V645M	possibly damaging	Het
Csn3	T	C	5: 88,078,016 (GRCm39)	V174A	unknown	Het
Deptor	G	A	15: 55,012,775 (GRCm39)	R54Q	probably damaging	Het
Ell	A	G	8: 71,038,463 (GRCm39)	H400R	probably benign	Het
Fcgbpl1	G	A	7: 27,852,717 (GRCm39)	V1335M	probably damaging	Het
Itga2	A	G	13: 114,973,627 (GRCm39)		probably null	Het
Itpr3	A	G	17: 27,336,152 (GRCm39)	I2293V	probably benign	Het
Matcap2	A	G	9: 22,342,994 (GRCm39)	D163G	probably benign	Het
Mmut	T	C	17: 41,269,702 (GRCm39)	L687P	probably damaging	Het
Mrps27	A	G	13: 99,546,324 (GRCm39)	E241G	probably damaging	Het
Myh9	C	T	15: 77,646,131 (GRCm39)	A1951T	probably benign	Het
Oca2	G	A	7: 55,964,559 (GRCm39)		probably null	Het
Or2n1c	C	T	17: 38,519,780 (GRCm39)	L215F	probably benign	Het
Or6d15	T	A	6: 116,559,296 (GRCm39)	I204F	possibly damaging	Het
Ptgdr2	T	C	19: 10,918,274 (GRCm39)	F264L	probably benign	Het
Ptpn23	T	C	9: 110,215,613 (GRCm39)	T1384A	possibly damaging	Het
Rasgrf2	A	T	13: 92,174,718 (GRCm39)	D170E	probably damaging	Het
Rnf20	C	T	4: 49,654,486 (GRCm39)	Q848*	probably null	Het

Other mutations in D630039A03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02071:D630039A03Rik	APN	4	57,910,309 (GRCm39)	missense	possibly damaging	0.94
IGL03338:D630039A03Rik	APN	4	57,910,509 (GRCm39)	missense	probably benign	0.12
R1828:D630039A03Rik	UTSW	4	57,910,240 (GRCm39)	missense	probably benign	0.02
R2883:D630039A03Rik	UTSW	4	57,910,560 (GRCm39)	missense	probably damaging	1.00
R3874:D630039A03Rik	UTSW	4	57,910,606 (GRCm39)	missense	probably benign	0.27
R3875:D630039A03Rik	UTSW	4	57,910,606 (GRCm39)	missense	probably benign	0.27
R4776:D630039A03Rik	UTSW	4	57,910,452 (GRCm39)	missense	possibly damaging	0.72
R5152:D630039A03Rik	UTSW	4	57,910,434 (GRCm39)	missense	probably damaging	1.00
R7003:D630039A03Rik	UTSW	4	57,910,521 (GRCm39)	missense	probably damaging	0.97
R8162:D630039A03Rik	UTSW	4	57,910,525 (GRCm39)	missense	probably benign	0.02
R8875:D630039A03Rik	UTSW	4	57,910,320 (GRCm39)	missense	probably benign	0.01
R9168:D630039A03Rik	UTSW	4	57,910,113 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21