Mutagenetix > Incidental Mutation

Incidental Mutation 'R0798:4930579C12Rik'

76492

Institutional Source

Beutler Lab

Gene Symbol

4930579C12Rik

Ensembl Gene

ENSMUSG00000074146

Gene Name

RIKEN cDNA 4930579C12 gene

Synonyms

MMRRC Submission

038978-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R0798 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88995164-89059940 bp(-) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

T to A at 89034880 bp (GRCm39)

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: 98.9%
10x: 97.4%
20x: 95.2%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
Baz2a	T	A	10: 127,962,192 (GRCm39)		probably benign	Het
Bcar3	T	C	3: 122,318,948 (GRCm39)	V695A	probably benign	Het
C130074G19Rik	G	A	1: 184,614,873 (GRCm39)		probably benign	Het
Cmas	T	C	6: 142,710,382 (GRCm39)	V167A	probably damaging	Het
Crppa	G	A	12: 36,571,998 (GRCm39)	R302H	probably benign	Het
Cyp3a25	T	C	5: 145,928,343 (GRCm39)	E234G	probably damaging	Het
Gopc	C	T	10: 52,234,907 (GRCm39)	G79S	probably damaging	Het
Herc2	T	A	7: 55,785,431 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnq5	A	G	1: 22,031,399 (GRCm39)		probably null	Het
Lpp	G	T	16: 24,790,622 (GRCm39)	G29*	probably null	Het
Ly6g6e	T	C	17: 35,297,017 (GRCm39)	F86S	probably benign	Het
Myo5c	T	C	9: 75,165,266 (GRCm39)	F358S	probably damaging	Het
Nlgn1	A	G	3: 25,488,410 (GRCm39)	Y613H	probably benign	Het
Or4k38	T	C	2: 111,165,689 (GRCm39)	I245V	probably benign	Het
Or7e178	A	T	9: 20,225,495 (GRCm39)	Y232*	probably null	Het
Plekhn1	T	A	4: 156,312,720 (GRCm39)	D46V	probably damaging	Het
Ptp4a1	A	T	1: 30,984,005 (GRCm39)		probably benign	Het
Rab23	A	T	1: 33,773,908 (GRCm39)	I123F	probably damaging	Het
Samd4b	G	A	7: 28,101,048 (GRCm39)		probably benign	Het
Shisa4	G	A	1: 135,300,886 (GRCm39)		probably benign	Het
Slc39a11	C	T	11: 113,414,330 (GRCm39)	A90T	probably benign	Het
Tas1r2	T	C	4: 139,397,024 (GRCm39)	Y788H	probably damaging	Het
Tasor	T	A	14: 27,198,593 (GRCm39)	F1308L	probably damaging	Het
Tial1	C	T	7: 128,045,602 (GRCm39)	M327I	probably benign	Het
Ubr2	C	T	17: 47,280,102 (GRCm39)		probably benign	Het
Utp4	T	C	8: 107,648,858 (GRCm39)	S630P	probably benign	Het
Vmn1r212	T	C	13: 23,067,868 (GRCm39)	N155S	probably damaging	Het
Zmym6	C	T	4: 126,997,316 (GRCm39)	P312S	probably benign	Het

Other mutations in 4930579C12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R0837:4930579C12Rik	UTSW	9	89,050,260 (GRCm39)	splice site	noncoding transcript
R1804:4930579C12Rik	UTSW	9	89,034,113 (GRCm39)	splice site	noncoding transcript
R1861:4930579C12Rik	UTSW	9	89,034,884 (GRCm39)	exon	noncoding transcript
R1889:4930579C12Rik	UTSW	9	89,034,815 (GRCm39)	splice site	noncoding transcript
R4044:4930579C12Rik	UTSW	9	89,044,347 (GRCm39)	exon	noncoding transcript
R5294:4930579C12Rik	UTSW	9	89,034,056 (GRCm39)	exon	noncoding transcript
R5454:4930579C12Rik	UTSW	9	89,051,041 (GRCm39)	critical splice acceptor site	noncoding transcript
R5756:4930579C12Rik	UTSW	9	89,010,919 (GRCm39)	critical splice donor site	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- TGGAAACTTCCCTCACAGTGGTCTC -3'
(R):5'- GTTCTGAAATGAGCAGCAAGCAACC -3'

Sequencing Primer
(F):5'- TCACAGTGGTCTCTGAGGAAC -3'
(R):5'- GCAACCTCTGCTTAATAATTAGACTG -3'

Posted On

2013-10-16