Mutagenetix > Incidental Mutation

Incidental Mutation 'R1023:4930523C07Rik'

94578

Institutional Source

Beutler Lab

Gene Symbol

4930523C07Rik

Ensembl Gene

ENSMUSG00000090394

Gene Name

RIKEN cDNA 4930523C07 gene

Synonyms

MMRRC Submission

039125-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160044382-160080208 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 160077487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097513]

AlphaFold

E9Q2T4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000028061

SMART Domains

Protein: ENSMUSP00000028061
Gene: ENSMUSG00000026729

Domain	Start	End	E-Value	Type
low complexity region	60	73	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000060298

Predicted Effect

probably benign
Transcript: ENSMUST00000097513

SMART Domains

Protein: ENSMUSP00000137410
Gene: ENSMUSG00000090394

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163892

SMART Domains

Protein: ENSMUSP00000127485
Gene: ENSMUSG00000090394

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164249

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169600

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,066,871	A607V	probably damaging	Het
Ap3d1	A	T	10: 80,714,258	L713Q	probably damaging	Het
Baz2a	A	G	10: 128,121,807	T1010A	possibly damaging	Het
Cd163l1	T	A	7: 140,224,463	C484S	possibly damaging	Het
Cdh15	T	C	8: 122,865,200	I608T	probably damaging	Het
Cdkl2	A	T	5: 92,039,286	D40E	possibly damaging	Het
Col9a2	G	A	4: 121,044,010	G118R	unknown	Het
Cryge	C	A	1: 65,050,786	C79F	probably damaging	Het
Dapk1	T	C	13: 60,730,985	L596P	probably damaging	Het
Dqx1	G	A	6: 83,061,089	C486Y	probably damaging	Het
Enam	A	G	5: 88,501,967	Q445R	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably benign	Het
Gnpat	A	T	8: 124,870,780	D27V	probably benign	Het
Htr5a	A	T	5: 27,842,998	T184S	possibly damaging	Het
Lap3	C	T	5: 45,495,211	P50S	probably benign	Het
Mamdc2	A	T	19: 23,310,907	M589K	probably damaging	Het
Mast4	A	G	13: 102,735,496	S2263P	probably benign	Het
Mef2b	C	T	8: 70,165,597	P109L	possibly damaging	Het
Meltf	T	A	16: 31,884,960	F168L	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Nup205	T	A	6: 35,234,706	F1661I	probably damaging	Het
Olfr187	A	T	16: 59,035,815	N307K	probably benign	Het
Olfr747	A	T	14: 50,681,016	L206H	probably damaging	Het
Plac8	A	T	5: 100,556,581	D83E	probably benign	Het
Pnpt1	T	C	11: 29,141,328		probably benign	Het
Pold2	G	T	11: 5,875,140	Q86K	probably benign	Het
Ptprt	A	G	2: 161,558,943	L1057P	probably damaging	Het
Rev3l	A	G	10: 39,832,639	H2284R	probably damaging	Het
Skint6	A	C	4: 113,238,103	S120A	probably benign	Het
Slc1a7	G	A	4: 108,007,573	V270M	probably damaging	Het
Spata2	A	G	2: 167,485,222	M85T	probably benign	Het
Taf1b	G	T	12: 24,509,559		probably benign	Het
Tert	A	G	13: 73,642,059	N844S	probably benign	Het
Thrap3	G	A	4: 126,180,089	S288L	possibly damaging	Het
Ubap2l	A	G	3: 90,047,873		probably benign	Het
Ubtf	T	C	11: 102,311,450	E197G	possibly damaging	Het
Usp20	G	T	2: 31,007,813	G216W	probably damaging	Het
Wdr60	T	C	12: 116,232,657	E490G	probably damaging	Het
Yy1	T	A	12: 108,793,531	V40E	unknown	Het
Zfp335	G	A	2: 164,892,585	H1254Y	possibly damaging	Het

Other mutations in 4930523C07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02545:4930523C07Rik	APN	1	160075424	missense	probably damaging	0.97
R1707:4930523C07Rik	UTSW	1	160070802	unclassified	probably benign
R2128:4930523C07Rik	UTSW	1	160075375	nonsense	probably null
R2129:4930523C07Rik	UTSW	1	160075375	nonsense	probably null
R2147:4930523C07Rik	UTSW	1	160075433	missense	probably benign	0.04
R4135:4930523C07Rik	UTSW	1	160077522	unclassified	probably benign
R4418:4930523C07Rik	UTSW	1	160044802	unclassified	noncoding transcript
R4431:4930523C07Rik	UTSW	1	160044579	unclassified	noncoding transcript
R5222:4930523C07Rik	UTSW	1	160044608	unclassified	noncoding transcript
R6170:4930523C07Rik	UTSW	1	160075173	missense	possibly damaging	0.82
R6248:4930523C07Rik	UTSW	1	160075408	missense	possibly damaging	0.83
R6612:4930523C07Rik	UTSW	1	160075234	missense	probably damaging	0.97
R7015:4930523C07Rik	UTSW	1	160075168	missense	possibly damaging	0.66
R8057:4930523C07Rik	UTSW	1	160075256	missense	probably damaging	0.97
R9464:4930523C07Rik	UTSW	1	160075295	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GCCTCTTTGACCAAAGCAACACTTC -3'
(R):5'- AACTGGGAACTGCCTTTCTGGATG -3'

Sequencing Primer
(F):5'- AAAGCAACACTTCCTGATTCTCTG -3'
(R):5'- ACACTTGTGTCCAGAGTCAG -3'

Posted On

2014-01-05