Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00974:E130311K13Rik'

27158

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

E130311K13Rik

Ensembl Gene

Gene Name

RIKEN cDNA E130311K13 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00974

Quality Score

Status

Chromosome

Chromosomal Location

63822105-63836893 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 63827784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000058114 (fasta)

Gene Model

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

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000061706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162448

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brwd1	T	A	16: 95,844,226 (GRCm39)	K776M	probably damaging	Het
Crisp4	T	C	1: 18,198,871 (GRCm39)	T188A	probably damaging	Het
Fyb1	A	G	15: 6,672,066 (GRCm39)		probably benign	Het
Gcn1	G	A	5: 115,751,852 (GRCm39)	V2076M	possibly damaging	Het
Grik5	A	T	7: 24,713,310 (GRCm39)	I766N	probably damaging	Het
Grk3	A	G	5: 113,133,685 (GRCm39)	Y46H	probably damaging	Het
Gtf2a1l	A	G	17: 89,022,377 (GRCm39)	D456G	probably damaging	Het
Kcna10	A	G	3: 107,102,647 (GRCm39)	D426G	probably damaging	Het
Luzp2	A	T	7: 54,724,774 (GRCm39)	I112F	probably damaging	Het
Med12l	G	T	3: 58,990,435 (GRCm39)	R519M	probably damaging	Het
Mrpl39	G	A	16: 84,520,740 (GRCm39)	P300S	probably damaging	Het
Polr3a	A	T	14: 24,529,492 (GRCm39)	I328N	probably benign	Het
Slc22a8	A	G	19: 8,587,290 (GRCm39)	N450S	probably damaging	Het
Slc38a4	T	C	15: 96,897,397 (GRCm39)	T473A	probably benign	Het
Slc4a7	C	T	14: 14,760,292 (GRCm38)	P576S	probably benign	Het
Tecta	A	G	9: 42,242,670 (GRCm39)	I2057T	probably benign	Het
Tnks1bp1	C	T	2: 84,893,226 (GRCm39)	T389I	possibly damaging	Het
Tnxb	T	C	17: 34,937,707 (GRCm39)		probably null	Het
Tsc22d1	A	G	14: 76,743,882 (GRCm39)	Y10C	probably damaging	Het
Vmn1r34	T	C	6: 66,614,639 (GRCm39)	H33R	possibly damaging	Het
Vmn2r102	G	T	17: 19,897,771 (GRCm39)	W262L	possibly damaging	Het

Other mutations in E130311K13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01418:E130311K13Rik	APN	3	63,827,683 (GRCm39)	missense	possibly damaging	0.53
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

2013-04-17