Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01418:E130311K13Rik'

80295

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

E130311K13Rik

Ensembl Gene

ENSMUSG00000048581

Gene Name

RIKEN cDNA E130311K13 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01418

Quality Score

Status

Chromosome

Chromosomal Location

63822105-63836893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 63827683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 141 (L141R)

Ref Sequence

ENSEMBL: ENSMUSP00000058114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061706]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061706
AA Change: L141R

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162448

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,762,655 (GRCm39)	H190L	probably benign	Het
Apoo-ps	T	A	13: 107,551,032 (GRCm39)		noncoding transcript	Het
Asic1	T	A	15: 99,569,998 (GRCm39)	N106K	probably damaging	Het
Ceacam5	G	A	7: 17,479,524 (GRCm39)	A214T	probably damaging	Het
Cfap221	T	A	1: 119,912,801 (GRCm39)	H91L	possibly damaging	Het
Cnga4	A	T	7: 105,054,169 (GRCm39)	M46L	probably benign	Het
Ctcfl	T	C	2: 172,960,124 (GRCm39)	E153G	probably benign	Het
Cubn	C	T	2: 13,288,852 (GRCm39)	V3374I	probably benign	Het
Cyb561a3	T	A	19: 10,562,610 (GRCm39)	H83Q	probably damaging	Het
Dnah11	C	T	12: 117,951,217 (GRCm39)	W1126*	probably null	Het
Ercc5	A	G	1: 44,206,440 (GRCm39)	K451R	probably benign	Het
Fbxo34	T	A	14: 47,768,241 (GRCm39)	C585S	possibly damaging	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Ifi214	T	A	1: 173,356,995 (GRCm39)	N36I	probably damaging	Het
Il17ra	A	G	6: 120,452,542 (GRCm39)	N242D	probably benign	Het
Itpr1	T	A	6: 108,316,585 (GRCm39)		probably null	Het
Lactb	T	C	9: 66,875,045 (GRCm39)	D349G	possibly damaging	Het
Lrp2	C	T	2: 69,355,630 (GRCm39)	V405I	probably benign	Het
Map1b	A	T	13: 99,568,338 (GRCm39)	I1461K	unknown	Het
Mdh2	T	A	5: 135,814,879 (GRCm39)	I116N	probably damaging	Het
Nek5	A	C	8: 22,585,285 (GRCm39)	I364S	probably damaging	Het
Nr2c1	A	T	10: 94,026,552 (GRCm39)	M476L	probably damaging	Het
Or10j2	T	A	1: 173,098,275 (GRCm39)	C178S	probably damaging	Het
Or1d2	T	C	11: 74,255,810 (GRCm39)	V105A	possibly damaging	Het
Or4k42	T	C	2: 111,319,984 (GRCm39)	E173G	probably benign	Het
Or5w19	T	C	2: 87,698,809 (GRCm39)	V158A	probably benign	Het
Pcdhb8	A	G	18: 37,489,029 (GRCm39)	N236D	probably damaging	Het
Phf10	C	A	17: 15,165,396 (GRCm39)	V487L	probably benign	Het
Pramel22	A	T	4: 143,381,887 (GRCm39)	F270I	probably benign	Het
Ptpn3	G	A	4: 57,270,156 (GRCm39)	T2I	probably damaging	Het
Rbl1	T	C	2: 156,994,812 (GRCm39)		probably null	Het
Slc24a3	A	G	2: 145,482,169 (GRCm39)	D609G	probably damaging	Het
Slc25a40	A	C	5: 8,503,298 (GRCm39)	*338Y	probably null	Het
Slc5a8	G	T	10: 88,740,895 (GRCm39)	C270F	probably damaging	Het
Slfn8	T	C	11: 82,895,462 (GRCm39)	D448G	probably damaging	Het
Tmem87a	T	C	2: 120,216,351 (GRCm39)	T180A	probably benign	Het
Trim30c	A	G	7: 104,031,541 (GRCm39)	S425P	possibly damaging	Het
Ubap1	A	T	4: 41,387,333 (GRCm39)	R414S	probably benign	Het
Vipas39	G	A	12: 87,296,171 (GRCm39)	T274I	probably benign	Het
Zfp507	T	A	7: 35,493,237 (GRCm39)		probably null	Het

Other mutations in E130311K13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00974:E130311K13Rik	APN	3	63,827,784 (GRCm39)	critical splice acceptor site	probably null
PIT4810001:E130311K13Rik	UTSW	3	63,823,122 (GRCm39)	nonsense	probably null
R0787:E130311K13Rik	UTSW	3	63,827,719 (GRCm39)	missense	probably benign	0.18
R1502:E130311K13Rik	UTSW	3	63,822,968 (GRCm39)	nonsense	probably null
R6051:E130311K13Rik	UTSW	3	63,823,062 (GRCm39)	missense	probably benign	0.36
R6221:E130311K13Rik	UTSW	3	63,823,152 (GRCm39)	missense	probably benign	0.18
R7462:E130311K13Rik	UTSW	3	63,836,722 (GRCm39)	missense	probably benign
R9012:E130311K13Rik	UTSW	3	63,822,934 (GRCm39)	missense	probably damaging	1.00
R9028:E130311K13Rik	UTSW	3	63,822,969 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05