Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00778:4930503E14Rik'

8466

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930503E14Rik

Ensembl Gene

ENSMUSG00000072595

Gene Name

RIKEN cDNA 4930503E14 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL00778

Quality Score

Status

Chromosome

Chromosomal Location

44400624-44408828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44401391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 152 (H152Y)

Ref Sequence

ENSEMBL: ENSMUSP00000098254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100688]

AlphaFold

Q9D583

Predicted Effect

probably benign
Transcript: ENSMUST00000100688
AA Change: H152Y

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098254
Gene: ENSMUSG00000072595
AA Change: H152Y

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	3e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226475

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,086,132 (GRCm39)	D457G	probably benign	Het
Atp8a1	T	G	5: 67,817,246 (GRCm39)	K913N	possibly damaging	Het
Cd180	G	A	13: 102,841,917 (GRCm39)	S321N	probably benign	Het
Cdc14b	T	C	13: 64,363,470 (GRCm39)	N264D	probably damaging	Het
Cenpf	A	T	1: 189,387,109 (GRCm39)	C1724S	probably benign	Het
Chil4	A	G	3: 106,109,113 (GRCm39)	S397P	probably benign	Het
Clpb	C	T	7: 101,427,815 (GRCm39)	R387*	probably null	Het
Csgalnact2	A	T	6: 118,103,233 (GRCm39)	M1K	probably null	Het
Enpp3	C	A	10: 24,674,160 (GRCm39)	C380F	probably damaging	Het
Gtf3c1	G	A	7: 125,266,546 (GRCm39)	R967W	probably damaging	Het
Hnrnpr	T	A	4: 136,066,856 (GRCm39)	D472E	unknown	Het
Klhl28	A	T	12: 64,996,840 (GRCm39)	D500E	probably damaging	Het
Lmo7	C	T	14: 102,148,321 (GRCm39)		probably benign	Het
Mphosph8	A	G	14: 56,911,900 (GRCm39)	I308V	probably benign	Het
Myo6	T	A	9: 80,190,868 (GRCm39)		probably null	Het
Nsmaf	C	T	4: 6,435,056 (GRCm39)		probably null	Het
Padi6	T	A	4: 140,454,934 (GRCm39)	I668L	possibly damaging	Het
Pigw	A	G	11: 84,768,150 (GRCm39)	I393T	possibly damaging	Het
Prg3	G	A	2: 84,824,076 (GRCm39)	C212Y	probably damaging	Het
Pwp1	T	C	10: 85,715,752 (GRCm39)	V267A	probably benign	Het
Raver2	C	A	4: 100,953,468 (GRCm39)	Q79K	probably benign	Het
Sdr9c7	T	C	10: 127,745,697 (GRCm39)	S270P	probably damaging	Het
Sfmbt2	A	G	2: 10,406,818 (GRCm39)	E39G	probably damaging	Het
Strada	A	G	11: 106,061,976 (GRCm39)		probably benign	Het
Xrn1	T	C	9: 95,855,500 (GRCm39)		probably benign	Het
Zic3	A	G	X: 57,079,779 (GRCm39)	Y424C	probably damaging	Het

Other mutations in 4930503E14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01995:4930503E14Rik	APN	14	44,401,302 (GRCm39)	utr 3 prime	probably benign
R2925:4930503E14Rik	UTSW	14	44,407,755 (GRCm39)	missense	probably damaging	0.98
R4067:4930503E14Rik	UTSW	14	44,406,641 (GRCm39)	missense	probably damaging	0.99
R4347:4930503E14Rik	UTSW	14	44,408,635 (GRCm39)	missense	probably damaging	0.96
R4414:4930503E14Rik	UTSW	14	44,406,690 (GRCm39)	missense	probably benign	0.00
R4504:4930503E14Rik	UTSW	14	44,407,899 (GRCm39)	missense	probably damaging	0.98
R5047:4930503E14Rik	UTSW	14	44,406,698 (GRCm39)	missense	possibly damaging	0.87
R7489:4930503E14Rik	UTSW	14	44,407,756 (GRCm39)	missense	probably damaging	0.99
R9665:4930503E14Rik	UTSW	14	44,407,796 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-12-06