Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01550:4930556J24Rik'

90572

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930556J24Rik

Ensembl Gene

ENSMUSG00000034493

Gene Name

RIKEN cDNA 4930556J24 gene

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01550

Quality Score

Status

Chromosome

Chromosomal Location

3887541-3926778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 3887974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 137 (R137S)

Ref Sequence

ENSEMBL: ENSMUSP00000048953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042344]

AlphaFold

Q9D4U7

Predicted Effect

unknown
Transcript: ENSMUST00000042344
AA Change: R137S

SMART Domains

Protein: ENSMUSP00000048953
Gene: ENSMUSG00000034493
AA Change: R137S

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
low complexity region	84	93	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Epha8	G	T	4: 136,659,051 (GRCm39)	Q868K	possibly damaging	Het
Erc1	T	A	6: 119,760,355 (GRCm39)	M386L	probably damaging	Het
Gfpt2	T	A	11: 49,715,150 (GRCm39)		probably null	Het
Gpr142	T	A	11: 114,695,152 (GRCm39)	L39Q	probably damaging	Het
Hmcn1	A	T	1: 150,474,148 (GRCm39)	W4765R	probably damaging	Het
Hmcn2	A	T	2: 31,314,264 (GRCm39)	E3603V	possibly damaging	Het
Hsp90b1	C	T	10: 86,540,234 (GRCm39)	D26N	probably benign	Het
Kmt2c	T	C	5: 25,486,274 (GRCm39)	T4760A	probably damaging	Het
Lmo7	C	A	14: 102,163,576 (GRCm39)		probably benign	Het
Mup4	A	T	4: 59,960,120 (GRCm39)	I48K	probably damaging	Het
Mylk3	T	A	8: 86,091,718 (GRCm39)	D29V	probably damaging	Het
Myo1b	A	G	1: 51,823,690 (GRCm39)	F405S	probably damaging	Het
Nbea	T	C	3: 55,712,669 (GRCm39)	D2136G	possibly damaging	Het
Or1l4b	A	T	2: 37,036,986 (GRCm39)	Y254F	probably damaging	Het
Or52a20	T	G	7: 103,366,204 (GRCm39)	H134Q	probably damaging	Het
Or5g27	T	A	2: 85,409,875 (GRCm39)	C97*	probably null	Het
Or7e175	A	T	9: 20,048,750 (GRCm39)	T113S	probably damaging	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Rpp40	T	C	13: 36,090,183 (GRCm39)		probably null	Het
Samd7	T	A	3: 30,819,399 (GRCm39)	S383T	probably damaging	Het
Tbc1d10c	T	C	19: 4,234,823 (GRCm39)	T413A	probably damaging	Het
Tlr12	A	G	4: 128,509,535 (GRCm39)	L905P	probably damaging	Het
Tnr	A	G	1: 159,701,828 (GRCm39)	K643R	probably benign	Het
Vmn2r124	T	C	17: 18,283,617 (GRCm39)		probably null	Het
Vwf	A	T	6: 125,656,252 (GRCm39)	I2606F	probably benign	Het
Wbp4	T	C	14: 79,703,774 (GRCm39)	T258A	probably benign	Het
Zfp1005	T	A	2: 150,108,363 (GRCm39)		probably benign	Het
Zfp758	T	C	17: 22,594,021 (GRCm39)	L137S	probably damaging	Het

Other mutations in 4930556J24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P4717OSA:4930556J24Rik	UTSW	11	3,888,178 (GRCm39)	splice site	probably null
P4748:4930556J24Rik	UTSW	11	3,888,178 (GRCm39)	splice site	probably null
R0478:4930556J24Rik	UTSW	11	3,926,259 (GRCm39)	intron	probably benign
R5593:4930556J24Rik	UTSW	11	3,888,027 (GRCm39)	missense	unknown
R5594:4930556J24Rik	UTSW	11	3,888,027 (GRCm39)	missense	unknown
R5698:4930556J24Rik	UTSW	11	3,926,366 (GRCm39)	missense	possibly damaging	0.93
R6081:4930556J24Rik	UTSW	11	3,888,140 (GRCm39)	missense	unknown
R6169:4930556J24Rik	UTSW	11	3,888,005 (GRCm39)	missense	unknown
R6626:4930556J24Rik	UTSW	11	3,888,056 (GRCm39)	missense	unknown
R8695:4930556J24Rik	UTSW	11	3,926,192 (GRCm39)	critical splice donor site	probably benign
T0975:4930556J24Rik	UTSW	11	3,926,324 (GRCm39)	missense	unknown
T0975:4930556J24Rik	UTSW	11	3,887,945 (GRCm39)	frame shift	probably null

Posted On

2013-12-09