Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02275:4930596D02Rik'

287312

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930596D02Rik

Ensembl Gene

ENSMUSG00000041068

Gene Name

RIKEN cDNA 4930596D02 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

IGL02275

Quality Score

Status

Chromosome

Chromosomal Location

35809488-35811978 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35811923 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 9 (T9A)

Ref Sequence

ENSEMBL: ENSMUSP00000039186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043266]

AlphaFold

Q3V0H9

Predicted Effect

probably benign
Transcript: ENSMUST00000043266
AA Change: T9A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039186
Gene: ENSMUSG00000041068
AA Change: T9A

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
RasGEFN	64	186	8.6e-14	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	A	16: 3,906,282	D130V	probably damaging	Het
Anapc1	C	A	2: 128,659,852	A757S	probably benign	Het
Bpifa6	A	T	2: 153,992,272	D328V	probably benign	Het
Casc1	T	C	6: 145,177,364	Y592C	probably damaging	Het
Cdh19	T	A	1: 110,925,886	K275I	probably benign	Het
Col18a1	A	G	10: 77,059,383	I1148T	possibly damaging	Het
Commd1	A	T	11: 22,900,017	V222D	probably damaging	Het
Crim1	T	A	17: 78,369,998	M876K	possibly damaging	Het
Dennd1b	C	A	1: 139,081,254	H232N	probably damaging	Het
Dhx57	T	C	17: 80,274,839	T393A	probably benign	Het
Gabrb2	G	T	11: 42,591,894	R193L	probably benign	Het
Gm5828	T	A	1: 16,769,118		noncoding transcript	Het
Gm6483	C	T	8: 19,691,613	P55S	probably damaging	Het
Hsp90ab1	T	C	17: 45,568,438	Y619C	possibly damaging	Het
Kctd19	A	G	8: 105,396,374	I136T	probably damaging	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr1361	A	C	13: 21,659,000	F108V	probably benign	Het
Sel1l	T	C	12: 91,815,015	Y532C	probably damaging	Het
Sirpb1a	A	G	3: 15,410,409		probably null	Het
Ush2a	C	T	1: 188,263,269	T79M	possibly damaging	Het
Usp24	T	C	4: 106,387,493	V1215A	probably damaging	Het
Vdac3-ps1	T	C	13: 18,030,794		noncoding transcript	Het
Vmn2r75	T	C	7: 86,165,140	T382A	probably benign	Het
Vps53	T	C	11: 76,047,123	Y728C	probably benign	Het

Other mutations in 4930596D02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:4930596D02Rik	APN	14	35810213	missense	possibly damaging	0.95
IGL01622:4930596D02Rik	APN	14	35810067	nonsense	probably null
IGL01623:4930596D02Rik	APN	14	35810067	nonsense	probably null
IGL02049:4930596D02Rik	APN	14	35811578	missense	probably benign	0.19
IGL02668:4930596D02Rik	APN	14	35810117	missense	probably benign	0.02
IGL02684:4930596D02Rik	APN	14	35810063	nonsense	probably null
R0178:4930596D02Rik	UTSW	14	35811478	missense	probably benign	0.44
R0601:4930596D02Rik	UTSW	14	35810189	missense	probably damaging	1.00
R0609:4930596D02Rik	UTSW	14	35811461	critical splice donor site	probably null
R1664:4930596D02Rik	UTSW	14	35811815	missense	probably benign	0.01
R1899:4930596D02Rik	UTSW	14	35810132	missense	probably damaging	1.00
R5153:4930596D02Rik	UTSW	14	35810255	missense	probably benign	0.00
R6222:4930596D02Rik	UTSW	14	35809966	makesense	probably null
R6935:4930596D02Rik	UTSW	14	35811907	missense	probably benign
R7314:4930596D02Rik	UTSW	14	35811649	missense	probably benign
R8422:4930596D02Rik	UTSW	14	35810052	missense	probably benign	0.15
R9629:4930596D02Rik	UTSW	14	35810177	missense	probably damaging	1.00

Posted On

2015-04-16