Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01757:Chic2'

153228

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chic2

Ensembl Gene

ENSMUSG00000029229

Gene Name

cysteine-rich hydrophobic domain 2

Synonyms

4930502K01Rik, BTL, 1700081B18Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

IGL01757

Quality Score

Status

Chromosome

Chromosomal Location

75165665-75205302 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 75167428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075452]

AlphaFold

Q9D9G3

Predicted Effect

probably benign
Transcript: ENSMUST00000075452

SMART Domains

Protein: ENSMUSP00000074903
Gene: ENSMUSG00000029229

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
Pfam:Erf4	39	141	7.9e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162397

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,639,705 (GRCm39)		probably benign	Het
Adamts9	T	C	6: 92,773,140 (GRCm39)	Y1789C	probably damaging	Het
Cdcp1	A	T	9: 123,009,066 (GRCm39)	Y537*	probably null	Het
Cpa5	G	A	6: 30,625,926 (GRCm39)		probably benign	Het
Csgalnact2	T	C	6: 118,106,307 (GRCm39)	R4G	probably damaging	Het
Dnah10	T	A	5: 124,845,991 (GRCm39)	V1510D	probably benign	Het
Dnm2	T	A	9: 21,376,915 (GRCm39)	F91L	probably damaging	Het
Eif2b1	T	C	5: 124,711,203 (GRCm39)	K189E	probably benign	Het
Fgf17	A	T	14: 70,874,420 (GRCm39)	L123Q	probably damaging	Het
Ifna15	T	C	4: 88,476,322 (GRCm39)	K54R	possibly damaging	Het
Isg15	A	G	4: 156,284,301 (GRCm39)	C76R	probably damaging	Het
Ldb2	A	T	5: 44,699,209 (GRCm39)		probably benign	Het
Lig4	A	G	8: 10,021,185 (GRCm39)	I865T	probably benign	Het
Lrrc46	T	C	11: 96,926,701 (GRCm39)	Y154C	probably damaging	Het
Lrrc8a	G	A	2: 30,145,537 (GRCm39)	R117H	possibly damaging	Het
Mrpl2	A	G	17: 46,959,183 (GRCm39)	I96V	probably damaging	Het
Mtif2	G	A	11: 29,491,337 (GRCm39)		probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Ptpn23	G	A	9: 110,220,704 (GRCm39)	R269W	probably damaging	Het
Senp2	T	C	16: 21,828,414 (GRCm39)	V8A	probably benign	Het
Slf1	T	C	13: 77,232,559 (GRCm39)	D515G	probably benign	Het
Spc25	G	A	2: 69,032,952 (GRCm39)	Q58*	probably null	Het
Sult2a5	T	C	7: 13,399,079 (GRCm39)	S229P	probably damaging	Het
Tfap2d	A	G	1: 19,174,804 (GRCm39)	T86A	probably benign	Het
Trp53bp1	A	G	2: 121,041,785 (GRCm39)	V1257A	probably damaging	Het
Wdr6	A	G	9: 108,453,427 (GRCm39)	V152A	possibly damaging	Het
Zdhhc7	A	G	8: 120,814,662 (GRCm39)	V49A	probably benign	Het
Zfp648	T	C	1: 154,080,671 (GRCm39)	S277P	probably damaging	Het

Other mutations in Chic2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01648:Chic2	APN	5	75,187,860 (GRCm39)	missense	probably damaging	1.00
IGL02327:Chic2	APN	5	75,187,741 (GRCm39)	nonsense	probably null
IGL03201:Chic2	APN	5	75,171,954 (GRCm39)	splice site	probably benign
R1872:Chic2	UTSW	5	75,172,140 (GRCm39)	missense	possibly damaging	0.85
R4923:Chic2	UTSW	5	75,171,872 (GRCm39)	intron	probably benign
R4995:Chic2	UTSW	5	75,204,865 (GRCm39)	missense	probably damaging	0.96
R5066:Chic2	UTSW	5	75,187,817 (GRCm39)	missense	possibly damaging	0.78
R6494:Chic2	UTSW	5	75,204,943 (GRCm39)	missense	probably benign	0.02

Posted On

2014-02-04