Mutagenetix > Incidental Mutation

Incidental Mutation 'R0837:4930579C12Rik'

78000

Institutional Source

Beutler Lab

Gene Symbol

4930579C12Rik

Ensembl Gene

ENSMUSG00000074146

Gene Name

RIKEN cDNA 4930579C12 gene

Synonyms

MMRRC Submission

039016-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89113111-89177887 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 89168207 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098484

SMART Domains

Protein: ENSMUSP00000096085
Gene: ENSMUSG00000074146

Domain	Start	End	E-Value	Type
low complexity region	93	110	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187015

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

96% (44/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563I02Rik	T	C	14: 60,095,926		probably benign	Het
Adam34	T	A	8: 43,651,500	K369N	probably benign	Het
Ap1g1	T	C	8: 109,851,065	W481R	probably damaging	Het
Bicdl1	G	A	5: 115,731,292	P26S	probably benign	Het
Cacna1c	A	T	6: 118,630,270	C1224*	probably null	Het
Cpsf2	C	T	12: 101,997,242		probably benign	Het
Cyp11b2	G	A	15: 74,853,641	R210W	probably damaging	Het
Dock7	C	T	4: 98,989,258	V1048I	probably benign	Het
Dync2h1	C	A	9: 7,077,979	A2908S	probably benign	Het
Elane	A	G	10: 79,887,108	D116G	probably damaging	Het
Epb41l2	C	T	10: 25,507,816	R153C	probably damaging	Het
Gucy2c	G	A	6: 136,722,420	P617L	probably damaging	Het
Hist2h2ab	G	A	3: 96,220,123	A70T	probably damaging	Het
Kcnq4	T	A	4: 120,746,861	I106L	probably benign	Het
Man2b1	A	G	8: 85,096,829	N931D	possibly damaging	Het
Mthfs	A	G	9: 89,215,390	E100G	probably damaging	Het
Mto1	A	T	9: 78,473,790	I639F	probably damaging	Het
Myo15	A	G	11: 60,487,251	E177G	probably damaging	Het
Naip5	T	A	13: 100,230,743	M282L	probably benign	Het
Olfr433	A	G	1: 174,042,487	D179G	probably damaging	Het
Pik3c2g	G	A	6: 139,957,699		probably benign	Het
Prl7d1	T	A	13: 27,714,338	M64L	probably benign	Het
Prnp	A	T	2: 131,936,524	N32I	probably damaging	Het
Ptpn11	C	T	5: 121,149,111	V406I	probably benign	Het
Rab40c	G	A	17: 25,884,693	T151I	probably damaging	Het
Rb1cc1	T	A	1: 6,234,271		probably null	Het
Rnf145	T	C	11: 44,524,988	V10A	probably benign	Het
Rtn4rl2	T	C	2: 84,880,692	N70S	probably damaging	Het
Scaper	A	T	9: 55,859,042	C483*	probably null	Het
Sema4a	T	A	3: 88,453,098	Q58L	possibly damaging	Het
Slf1	T	C	13: 77,100,948		probably null	Het
Sycp1	G	T	3: 102,915,245	N364K	probably benign	Het
Tenm4	T	C	7: 96,896,275		probably benign	Het
Tnfaip2	A	G	12: 111,450,707	T537A	probably damaging	Het
Trappc12	A	G	12: 28,703,597	I573T	possibly damaging	Het
Ugt2b38	G	A	5: 87,411,773	T420I	probably damaging	Het
Ulk1	A	T	5: 110,789,545		probably benign	Het
Unc80	G	A	1: 66,648,944	C2367Y	possibly damaging	Het
Usp7	C	A	16: 8,703,502	G135C	probably damaging	Het
Vmn2r103	A	G	17: 19,793,927	Y327C	probably damaging	Het
Vmn2r28	T	A	7: 5,488,027	H407L	probably damaging	Het
Zfp804a	A	C	2: 82,259,162	T1112P	probably damaging	Het
Zfr2	A	G	10: 81,245,408	K431E	probably damaging	Het
Zfy1	A	T	Y: 725,850	Y638*	probably null	Het

Other mutations in 4930579C12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R0798:4930579C12Rik	UTSW	9	89,152,827 (GRCm38)	exon	noncoding transcript
R1804:4930579C12Rik	UTSW	9	89,152,060 (GRCm38)	splice site	noncoding transcript
R1861:4930579C12Rik	UTSW	9	89,152,831 (GRCm38)	exon	noncoding transcript
R1889:4930579C12Rik	UTSW	9	89,152,762 (GRCm38)	splice site	noncoding transcript
R4044:4930579C12Rik	UTSW	9	89,162,294 (GRCm38)	exon	noncoding transcript
R5294:4930579C12Rik	UTSW	9	89,152,003 (GRCm38)	exon	noncoding transcript
R5454:4930579C12Rik	UTSW	9	89,168,988 (GRCm38)	critical splice acceptor site	noncoding transcript
R5756:4930579C12Rik	UTSW	9	89,128,866 (GRCm38)	critical splice donor site	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- CTTTTCAAAACTGACTGCTGCCTGG -3'
(R):5'- GCACCGTATAATTTGTGGCAACCTC -3'

Sequencing Primer
(F):5'- tctctctctctttctctccctc -3'
(R):5'- GTGGCAACCTCAAATAATGTATCC -3'

Posted On

2013-10-16