Mutagenetix > Incidental Mutation

Incidental Mutation 'P4748:4930556J24Rik'

26545

Institutional Source

Beutler Lab

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 #

P4748 () of strain 712

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

3887541-3926778 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 3888178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048953 (fasta)

Gene Model

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

AlphaFold

Q9D4U7

Predicted Effect

probably null
Transcript: ENSMUST00000042344

SMART Domains

Protein: ENSMUSP00000048953
Gene: ENSMUSG00000034493

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.5%
20x: 94.5%

Validation Efficiency

87% (26/30)

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
Acoxl	T	C	2: 127,928,264 (GRCm39)		probably benign	Het
Ahi1	G	C	10: 20,848,009 (GRCm39)	R472S	probably damaging	Het
Akap10	A	G	11: 61,763,846 (GRCm39)	L662P	possibly damaging	Het
Arhgef10	C	T	8: 14,978,925 (GRCm39)	T64M	possibly damaging	Het
Ccr4	C	T	9: 114,321,906 (GRCm39)	G53D	probably damaging	Het
Cdc25a	T	C	9: 109,713,176 (GRCm39)		probably benign	Het
Clec4n	A	C	6: 123,221,499 (GRCm39)	Q114H	probably damaging	Het
Cmya5	A	G	13: 93,210,983 (GRCm39)		probably benign	Het
Depdc1a	T	C	3: 159,228,184 (GRCm39)	V312A	probably damaging	Het
Ephb6	C	T	6: 41,594,219 (GRCm39)	P583L	probably damaging	Het
Klra8	A	T	6: 130,099,007 (GRCm39)	D185E	possibly damaging	Het
Meis2	T	A	2: 115,694,961 (GRCm39)	Q394L	probably benign	Het
Or2t47	G	A	11: 58,442,348 (GRCm39)	T239I	probably damaging	Het
Pzp	C	T	6: 128,467,052 (GRCm39)	G1107D	probably damaging	Het
Ralgapa2	C	T	2: 146,188,731 (GRCm39)	W1350*	probably null	Het
Scand1	C	A	2: 156,153,865 (GRCm39)	R135L	probably damaging	Het
Spopl	A	T	2: 23,401,455 (GRCm39)	M351K	probably benign	Het
Tmed4	T	C	11: 6,223,727 (GRCm39)		probably benign	Het
Ube2e2	A	G	14: 18,630,297 (GRCm38)		probably null	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Usp51	GATGCAT	GAT	X: 151,791,227 (GRCm39)		probably null	Het
Wrap53	A	T	11: 69,453,031 (GRCm39)	D425E	probably damaging	Het

Other mutations in 4930556J24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01550:4930556J24Rik	APN	11	3,887,974 (GRCm39)	missense	unknown
P4717OSA: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

Predicted Primers

PCR Primer
(F):5'- TGTGTCTCCCGTGAGGAACTCTAC -3'
(R):5'- TGCCCTTAGATGTGCCTACCTAACC -3'

Sequencing Primer
(F):5'- GGACACTAACATATCTTGCTTGC -3'
(R):5'- cttccttcaccgagatgcc -3'

Posted On

2013-04-16