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: 0.058) question?

Stock #

IGL01666

Quality Score

Status

Chromosome

Chromosomal Location

57908483-57916297 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57910570 bp (GRCm38)

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
9530053A07Rik	G	A	7: 28,153,292	V1335M	probably damaging	Het
9530077C05Rik	A	G	9: 22,431,698	D163G	probably benign	Het
Adgrb3	C	A	1: 25,460,751	A664S	probably damaging	Het
Ankrd61	T	A	5: 143,891,136	L297F	probably damaging	Het
Chrnd	A	T	1: 87,198,736	S513C	possibly damaging	Het
Col24a1	G	A	3: 145,344,686	V645M	possibly damaging	Het
Csn3	T	C	5: 87,930,157	V174A	unknown	Het
Deptor	G	A	15: 55,149,379	R54Q	probably damaging	Het
Ell	A	G	8: 70,585,813	H400R	probably benign	Het
Itga2	A	G	13: 114,837,091		probably null	Het
Itpr3	A	G	17: 27,117,178	I2293V	probably benign	Het
Mrps27	A	G	13: 99,409,816	E241G	probably damaging	Het
Mut	T	C	17: 40,958,811	L687P	probably damaging	Het
Myh9	C	T	15: 77,761,931	A1951T	probably benign	Het
Oca2	G	A	7: 56,314,811		probably null	Het
Olfr135	C	T	17: 38,208,889	L215F	probably benign	Het
Olfr215	T	A	6: 116,582,335	I204F	possibly damaging	Het
Ptgdr2	T	C	19: 10,940,910	F264L	probably benign	Het
Ptpn23	T	C	9: 110,386,545	T1384A	possibly damaging	Het
Rasgrf2	A	T	13: 92,038,210	D170E	probably damaging	Het
Rnf20	C	T	4: 49,654,486	Q848*	probably null	Het

Other mutations in D630039A03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02071:D630039A03Rik	APN	4	57910309	missense	possibly damaging	0.94
IGL03338:D630039A03Rik	APN	4	57910509	missense	probably benign	0.12
R1828:D630039A03Rik	UTSW	4	57910240	missense	probably benign	0.02
R2883:D630039A03Rik	UTSW	4	57910560	missense	probably damaging	1.00
R3874:D630039A03Rik	UTSW	4	57910606	missense	probably benign	0.27
R3875:D630039A03Rik	UTSW	4	57910606	missense	probably benign	0.27
R4776:D630039A03Rik	UTSW	4	57910452	missense	possibly damaging	0.72
R5152:D630039A03Rik	UTSW	4	57910434	missense	probably damaging	1.00
R7003:D630039A03Rik	UTSW	4	57910521	missense	probably damaging	0.97
R8162:D630039A03Rik	UTSW	4	57910525	missense	probably benign	0.02
R8875:D630039A03Rik	UTSW	4	57910320	missense	probably benign	0.01
R9168:D630039A03Rik	UTSW	4	57910113	missense	probably damaging	1.00

Posted On

2014-01-21