Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02049:4930596D02Rik'

185035

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 #

IGL02049

Quality Score

Status

Chromosome

Chromosomal Location

35531445-35533935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35533535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 78 (V78L)

Ref Sequence

ENSEMBL: ENSMUSP00000039186 (fasta)

Gene Model

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

AlphaFold

Q3V0H9

Predicted Effect

probably benign
Transcript: ENSMUST00000043266
AA Change: V78L

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039186
Gene: ENSMUSG00000041068
AA Change: V78L

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,254,801 (GRCm39)	R27S	probably benign	Het
Abca3	T	A	17: 24,595,704 (GRCm39)	C352*	probably null	Het
Acat3	T	A	17: 13,144,207 (GRCm39)	Y324F	probably benign	Het
Adamts8	T	C	9: 30,862,650 (GRCm39)	V285A	probably damaging	Het
Anpep	A	G	7: 79,484,929 (GRCm39)	I652T	probably damaging	Het
Arhgef6	T	A	X: 56,321,271 (GRCm39)	Q320L	probably damaging	Het
Armh1	A	T	4: 117,094,860 (GRCm39)	I60K	probably benign	Het
Atp11b	T	C	3: 35,854,642 (GRCm39)	V145A	probably damaging	Het
Cacna1c	T	C	6: 118,580,880 (GRCm39)	T1674A	probably benign	Het
Capn2	A	T	1: 182,301,519 (GRCm39)		probably benign	Het
Cfd	A	G	10: 79,726,776 (GRCm39)	Y6C	probably benign	Het
Cps1	A	G	1: 67,183,113 (GRCm39)	K157R	possibly damaging	Het
Csmd3	T	A	15: 47,864,870 (GRCm39)	R786S	possibly damaging	Het
Dna2	A	T	10: 62,792,815 (GRCm39)	I277L	probably damaging	Het
Gm5168	A	T	X: 25,999,005 (GRCm39)	D50E	probably damaging	Het
Grik4	T	A	9: 42,455,049 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,402,067 (GRCm39)	T520A	probably benign	Het
Iqgap2	A	G	13: 95,811,913 (GRCm39)		probably benign	Het
Klk10	A	T	7: 43,433,882 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,892,187 (GRCm39)	Y250C	probably damaging	Het
Las1l	A	T	X: 94,981,059 (GRCm39)	M690K	probably benign	Het
Mug1	T	A	6: 121,848,295 (GRCm39)	M673K	probably benign	Het
Myh9	T	C	15: 77,654,070 (GRCm39)	H1245R	probably benign	Het
Oprk1	C	T	1: 5,669,067 (GRCm39)	T171I	probably damaging	Het
Pgm5	A	T	19: 24,801,782 (GRCm39)	S149T	probably benign	Het
Pla2g4a	T	C	1: 149,736,847 (GRCm39)	N424S	probably benign	Het
Plec	A	T	15: 76,063,149 (GRCm39)	L2334Q	probably damaging	Het
Pus7l	G	A	15: 94,438,059 (GRCm39)	S262F	probably damaging	Het
Rps24	C	A	14: 24,541,823 (GRCm39)	D3E	probably benign	Het
Rxfp1	T	C	3: 79,557,799 (GRCm39)	N560D	probably damaging	Het
Sema3c	C	T	5: 17,926,923 (GRCm39)		probably benign	Het
Slc47a2	A	G	11: 61,233,365 (GRCm39)	F55S	probably damaging	Het
Slco1a6	A	G	6: 142,047,309 (GRCm39)		probably benign	Het
Taf4b	A	T	18: 14,963,196 (GRCm39)	E645D	probably benign	Het
Tmem161a	T	A	8: 70,631,624 (GRCm39)	V158E	probably damaging	Het
Trav13-2	A	G	14: 53,872,604 (GRCm39)	S27G	possibly damaging	Het
Trav13-2	G	T	14: 53,872,603 (GRCm39)	Q26H	probably damaging	Het
Trav13-2	A	T	14: 53,872,602 (GRCm39)	Q26L	possibly damaging	Het
Vmn2r108	T	A	17: 20,691,608 (GRCm39)	H305L	probably benign	Het
Zfp263	A	G	16: 3,562,482 (GRCm39)	I82V	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
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
IGL02684:4930596D02Rik	APN	14	35,532,020 (GRCm39)	nonsense	probably null
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

2014-05-07