Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01931:4930533L02Rik'

180441

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930533L02Rik

Ensembl Gene

ENSMUSG00000104236

Gene Name

RIKEN cDNA 4930533L02 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

IGL01931

Quality Score

Status

Chromosome

Chromosomal Location

124917531-124918690 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124917869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 87 (E87G)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000060220
AA Change: E87G

SMART Domains

Protein: ENSMUSP00000054922
Gene: ENSMUSG00000051614
AA Change: E87G

Domain	Start	End	E-Value	Type
low complexity region	81	93	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205794

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	A	G	6: 125,959,708 (GRCm39)	Y656C	probably damaging	Het
Cckbr	T	C	7: 105,075,310 (GRCm39)	S27P	probably benign	Het
Celsr1	T	A	15: 85,791,861 (GRCm39)	N2580I	probably damaging	Het
Cfap221	A	G	1: 119,860,625 (GRCm39)	L667P	probably damaging	Het
Col16a1	T	C	4: 129,966,634 (GRCm39)	C555R	possibly damaging	Het
Dync2h1	A	G	9: 7,114,973 (GRCm39)	V162A	probably damaging	Het
Dync2h1	G	A	9: 7,011,207 (GRCm39)	S3669L	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm4922	A	G	10: 18,660,042 (GRCm39)	S227P	probably benign	Het
Grin2c	A	G	11: 115,144,736 (GRCm39)	F597L	probably damaging	Het
Hook3	G	A	8: 26,578,083 (GRCm39)		probably benign	Het
Ltv1	A	G	10: 13,061,245 (GRCm39)	I106T	probably damaging	Het
Mdc1	T	C	17: 36,159,123 (GRCm39)	V501A	probably benign	Het
Myo15a	T	A	11: 60,386,964 (GRCm39)	C667S	probably damaging	Het
Myom3	T	C	4: 135,516,950 (GRCm39)	V840A	probably benign	Het
Naip1	G	T	13: 100,545,540 (GRCm39)	C1329*	probably null	Het
Oas1c	A	C	5: 120,943,560 (GRCm39)	I193S	probably benign	Het
Osbp2	C	T	11: 3,655,388 (GRCm39)		probably null	Het
Phf1	T	C	17: 27,154,509 (GRCm39)		probably benign	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Ppox	T	C	1: 171,105,456 (GRCm39)	Q302R	probably null	Het
Sec24b	G	A	3: 129,803,448 (GRCm39)	P305S	probably benign	Het
Spink5	A	T	18: 44,148,705 (GRCm39)	I923F	probably benign	Het
Thsd7a	A	T	6: 12,504,098 (GRCm39)	V352E	probably damaging	Het
Tpi1	A	G	6: 124,789,603 (GRCm39)	V152A	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wdfy4	C	T	14: 32,877,710 (GRCm39)	G85S	probably damaging	Het
Wnk4	A	G	11: 101,159,310 (GRCm39)	T139A	possibly damaging	Het
Zfp345	T	C	2: 150,315,270 (GRCm39)	H89R	probably benign	Het

Other mutations in 4930533L02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01021:4930533L02Rik	APN	7	124,917,848 (GRCm39)	missense	unknown
R0277:4930533L02Rik	UTSW	7	124,917,815 (GRCm39)	missense	unknown
R2086:4930533L02Rik	UTSW	7	124,917,767 (GRCm39)	missense	unknown
R4541:4930533L02Rik	UTSW	7	124,917,750 (GRCm39)	intron	noncoding transcript

Posted On

2014-05-07