Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02684:4930596D02Rik'

303467

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: 0.179) question?

Stock #

IGL02684

Quality Score

Status

Chromosome

Chromosomal Location

35531445-35533935 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 35532020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 185 (L185*)

Ref Sequence

ENSEMBL: ENSMUSP00000039186 (fasta)

Gene Model

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

AlphaFold

Q3V0H9

Predicted Effect

probably null
Transcript: ENSMUST00000043266
AA Change: L185*

SMART Domains

Protein: ENSMUSP00000039186
Gene: ENSMUSG00000041068
AA Change: L185*

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	G	4: 144,504,755 (GRCm39)		probably benign	Het
Actrt3	A	T	3: 30,653,840 (GRCm39)	D53E	probably benign	Het
Ankrd34b	T	C	13: 92,575,016 (GRCm39)	S83P	probably damaging	Het
Asap1	A	G	15: 63,966,018 (GRCm39)	V1029A	probably benign	Het
Blk	T	C	14: 63,617,143 (GRCm39)	E288G	probably benign	Het
Cep192	T	G	18: 67,967,634 (GRCm39)	V706G	probably damaging	Het
Chd2	T	C	7: 73,125,097 (GRCm39)	K908E	probably damaging	Het
Dnm1l	A	T	16: 16,139,521 (GRCm39)	I391N	possibly damaging	Het
Fmn1	A	G	2: 113,355,622 (GRCm39)	R688G	unknown	Het
Gdap2	A	G	3: 100,078,336 (GRCm39)	D100G	probably benign	Het
Gm43638	T	C	5: 87,610,769 (GRCm39)	I522V	possibly damaging	Het
Gsap	A	T	5: 21,447,801 (GRCm39)		probably null	Het
Hoxd12	A	G	2: 74,505,905 (GRCm39)	S159G	probably benign	Het
Ints7	A	G	1: 191,345,749 (GRCm39)		probably null	Het
Iqsec3	G	A	6: 121,389,900 (GRCm39)	Q524*	probably null	Het
Klra10	T	A	6: 130,258,845 (GRCm39)	H14L	possibly damaging	Het
Lratd1	T	C	12: 14,200,646 (GRCm39)	D27G	probably damaging	Het
Mettl15	T	C	2: 108,961,925 (GRCm39)	E228G	probably damaging	Het
Or51v8	T	C	7: 103,319,591 (GRCm39)	M216V	probably benign	Het
Or9s18	G	A	13: 65,300,210 (GRCm39)	M57I	probably damaging	Het
Pabpc1l	A	G	2: 163,873,197 (GRCm39)	N156D	probably benign	Het
Pkhd1l1	G	T	15: 44,379,605 (GRCm39)		probably null	Het
Pm20d1	T	A	1: 131,732,697 (GRCm39)	N345K	probably benign	Het
Rasgrp1	A	G	2: 117,113,057 (GRCm39)	V785A	probably benign	Het
Sos2	A	G	12: 69,643,440 (GRCm39)	L980S	probably damaging	Het
Stam2	A	T	2: 52,609,947 (GRCm39)	H56Q	probably damaging	Het
Trpm6	T	A	19: 18,779,571 (GRCm39)		probably benign	Het
Trpm7	A	T	2: 126,688,079 (GRCm39)	D249E	probably damaging	Het
Vmn1r203	A	T	13: 22,708,539 (GRCm39)	T107S	possibly damaging	Het
Vmn2r55	A	G	7: 12,404,887 (GRCm39)	L172P	probably damaging	Het
Vrtn	A	G	12: 84,696,923 (GRCm39)	R558G	probably benign	Het
Zfp977	A	T	7: 42,232,439 (GRCm39)	D7E	probably damaging	Het

Other mutations in 4930596D02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:4930596D02Rik	APN	14	35,532,170 (GRCm39)	missense	possibly damaging	0.95
IGL01622:4930596D02Rik	APN	14	35,532,024 (GRCm39)	nonsense	probably null
IGL01623:4930596D02Rik	APN	14	35,532,024 (GRCm39)	nonsense	probably null
IGL02049:4930596D02Rik	APN	14	35,533,535 (GRCm39)	missense	probably benign	0.19
IGL02275:4930596D02Rik	APN	14	35,533,880 (GRCm39)	missense	probably benign	0.44
IGL02668:4930596D02Rik	APN	14	35,532,074 (GRCm39)	missense	probably benign	0.02
R0178:4930596D02Rik	UTSW	14	35,533,435 (GRCm39)	missense	probably benign	0.44
R0601:4930596D02Rik	UTSW	14	35,532,146 (GRCm39)	missense	probably damaging	1.00
R0609:4930596D02Rik	UTSW	14	35,533,418 (GRCm39)	critical splice donor site	probably null
R1664:4930596D02Rik	UTSW	14	35,533,772 (GRCm39)	missense	probably benign	0.01
R1899:4930596D02Rik	UTSW	14	35,532,089 (GRCm39)	missense	probably damaging	1.00
R5153:4930596D02Rik	UTSW	14	35,532,212 (GRCm39)	missense	probably benign	0.00
R6222:4930596D02Rik	UTSW	14	35,531,923 (GRCm39)	makesense	probably null
R6935:4930596D02Rik	UTSW	14	35,533,864 (GRCm39)	missense	probably benign
R7314:4930596D02Rik	UTSW	14	35,533,606 (GRCm39)	missense	probably benign
R8422:4930596D02Rik	UTSW	14	35,532,009 (GRCm39)	missense	probably benign	0.15
R9629:4930596D02Rik	UTSW	14	35,532,134 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16