Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00650:5530401A14Rik'

88899

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

5530401A14Rik

Ensembl Gene

ENSMUSG00000020703

Gene Name

RIKEN cDNA 5530401A14 gene

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00650

Quality Score

Status

Chromosome

Chromosomal Location

81751503-81785408 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 81784694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021044] [ENSMUST00000066197]

AlphaFold

Q9D3H9

Predicted Effect

unknown
Transcript: ENSMUST00000021044
AA Change: Y79C

Predicted Effect

probably benign
Transcript: ENSMUST00000066197

SMART Domains

Protein: ENSMUSP00000067095
Gene: ENSMUSG00000020704

Domain	Start	End	E-Value	Type
Pfam:ASC	20	454	3.3e-177	PFAM
low complexity region	456	472	N/A	INTRINSIC

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
9130230L23Rik	T	C	5: 66,147,187 (GRCm39)	N76S	unknown	Het
Chm	A	G	X: 111,953,292 (GRCm39)	F574S	probably damaging	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Dnah3	A	G	7: 119,538,128 (GRCm39)	I3619T	possibly damaging	Het
Dock11	A	T	X: 35,270,246 (GRCm39)		probably benign	Het
Duox1	T	A	2: 122,163,622 (GRCm39)	M818K	possibly damaging	Het
Ghrhr	A	G	6: 55,356,110 (GRCm39)	T68A	probably benign	Het
Hltf	T	C	3: 20,159,796 (GRCm39)		probably benign	Het
Inpp5f	T	A	7: 128,265,991 (GRCm39)	W211R	probably benign	Het
Jcad	A	G	18: 4,675,692 (GRCm39)	I1151M	probably benign	Het
Klra9	T	C	6: 130,156,060 (GRCm39)	K232E	probably benign	Het
Mycbp2	T	C	14: 103,380,664 (GRCm39)	N3664S	probably damaging	Het
Ndst2	A	C	14: 20,779,736 (GRCm39)	I168S	possibly damaging	Het
Nmral1	A	T	16: 4,534,240 (GRCm39)	L67Q	probably benign	Het
Nrk	G	T	X: 137,873,670 (GRCm39)	V322F	probably damaging	Het
Qpct	G	A	17: 79,378,318 (GRCm39)	V163M	probably damaging	Het
Rsf1	T	C	7: 97,331,096 (GRCm39)		probably null	Het
Scn1a	C	T	2: 66,111,137 (GRCm39)	G1484D	probably damaging	Het
Skic3	A	G	13: 76,275,626 (GRCm39)	D411G	possibly damaging	Het
Xpo5	T	C	17: 46,519,172 (GRCm39)	Y204H	probably damaging	Het
Zrsr2	A	T	X: 162,722,313 (GRCm39)	M313K	probably benign	Het

Other mutations in 5530401A14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL03034:5530401A14Rik	APN	11	81,780,908 (GRCm39)	intron	probably benign
R6045:5530401A14Rik	UTSW	11	81,784,694 (GRCm39)	intron	probably benign
R7971:5530401A14Rik	UTSW	11	81,754,526 (GRCm39)	missense	unknown

Posted On

2013-12-03