Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00499:4930533K18Rik'

332234

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930533K18Rik

Ensembl Gene

ENSMUSG00000047692

Gene Name

RIKEN cDNA 4930533K18 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

IGL00499

Quality Score

Status

Chromosome

Chromosomal Location

70704471-70770070 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 70711138 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: ENSMUST00000058942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219192

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,215,301 (GRCm39)	D480G	possibly damaging	Het
Adam26a	A	T	8: 44,021,896 (GRCm39)	N531K	possibly damaging	Het
AW554918	A	T	18: 25,553,122 (GRCm39)	K542*	probably null	Het
Blk	A	G	14: 63,618,169 (GRCm39)	F246L	probably damaging	Het
Camk1	T	C	6: 113,313,172 (GRCm39)	E292G	probably benign	Het
Ccdc88a	C	T	11: 29,449,341 (GRCm39)	T261I	probably benign	Het
Cep290	A	T	10: 100,379,189 (GRCm39)	Q57L	probably damaging	Het
Cpsf1	A	T	15: 76,484,416 (GRCm39)	H688Q	probably benign	Het
Cryz	T	C	3: 154,310,579 (GRCm39)	V13A	possibly damaging	Het
Dst	A	G	1: 34,329,504 (GRCm39)	K6858R	probably damaging	Het
Dync2h1	A	T	9: 7,168,700 (GRCm39)	V371E	possibly damaging	Het
Eps8	C	A	6: 137,499,886 (GRCm39)	E181*	probably null	Het
Flt4	T	C	11: 49,526,088 (GRCm39)	I796T	probably damaging	Het
Gmps	A	G	3: 63,921,788 (GRCm39)	N597S	probably benign	Het
Itgav	T	A	2: 83,633,339 (GRCm39)	M1011K	probably damaging	Het
Kif16b	A	G	2: 142,699,244 (GRCm39)	M112T	probably damaging	Het
Lig1	T	C	7: 13,032,756 (GRCm39)		probably null	Het
Lrrc30	A	G	17: 67,939,034 (GRCm39)	F182S	probably damaging	Het
Oxsm	A	T	14: 16,242,076 (GRCm38)	M231K	probably damaging	Het
Pnisr	T	C	4: 21,870,407 (GRCm39)		probably null	Het
Rsrc1	A	T	3: 66,989,933 (GRCm39)		probably benign	Het
Setd1b	A	T	5: 123,296,810 (GRCm39)		probably benign	Het
Tbx6	A	G	7: 126,380,701 (GRCm39)	Y8C	probably damaging	Het
Tmem33	T	C	5: 67,441,538 (GRCm39)	Y196H	probably damaging	Het
Traf5	T	C	1: 191,741,589 (GRCm39)	D96G	possibly damaging	Het
Tsc22d1	T	A	14: 76,656,357 (GRCm39)	D945E	probably damaging	Het
Tubb2b	T	C	13: 34,312,329 (GRCm39)	I155V	probably benign	Het
Usp13	T	A	3: 32,935,560 (GRCm39)	Y328N	probably damaging	Het
Usp17lc	G	A	7: 103,067,673 (GRCm39)	D323N	probably damaging	Het
Usp17lc	G	A	7: 103,067,672 (GRCm39)	M322I	probably damaging	Het
Zfp341	C	T	2: 154,476,151 (GRCm39)	T446I	probably damaging	Het
Zfp407	A	G	18: 84,579,877 (GRCm39)	L412P	probably damaging	Het
Zfp521	T	A	18: 14,072,177 (GRCm39)	D21V	probably benign	Het
Zranb1	A	G	7: 132,584,233 (GRCm39)		probably benign	Het

Other mutations in 4930533K18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01538:4930533K18Rik	APN	10	70,708,032 (GRCm39)	unclassified	noncoding transcript
IGL02173:4930533K18Rik	APN	10	70,708,060 (GRCm39)	unclassified	noncoding transcript
R0656:4930533K18Rik	UTSW	10	70,704,630 (GRCm39)	unclassified	noncoding transcript
R1776:4930533K18Rik	UTSW	10	70,711,058 (GRCm39)	unclassified	noncoding transcript
R1824:4930533K18Rik	UTSW	10	70,708,086 (GRCm39)	unclassified	noncoding transcript
R5690:4930533K18Rik	UTSW	10	70,759,144 (GRCm39)	utr 3 prime	probably benign
R8314:4930533K18Rik	UTSW	10	70,711,106 (GRCm39)	missense	noncoding transcript
X0024:4930533K18Rik	UTSW	10	70,707,996 (GRCm39)	unclassified	noncoding transcript

Posted On

2015-08-05