Incidental Mutation 'IGL01757:Chic2'
ID 153228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chic2
Ensembl Gene ENSMUSG00000029229
Gene Name cysteine-rich hydrophobic domain 2
Synonyms 4930502K01Rik, 1700081B18Rik, BTL
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL01757
Quality Score
Status
Chromosome 5
Chromosomal Location 74997988-75044774 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 75006767 bp (GRCm38)
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,990,281 probably benign Het
Adamts9 T C 6: 92,796,159 Y1789C probably damaging Het
Cdcp1 A T 9: 123,180,001 Y537* probably null Het
Cpa5 G A 6: 30,625,927 probably benign Het
Csgalnact2 T C 6: 118,129,346 R4G probably damaging Het
Dnah10 T A 5: 124,768,927 V1510D probably benign Het
Dnm2 T A 9: 21,465,619 F91L probably damaging Het
Eif2b1 T C 5: 124,573,140 K189E probably benign Het
Fgf17 A T 14: 70,636,980 L123Q probably damaging Het
Ifna15 T C 4: 88,558,085 K54R possibly damaging Het
Isg15 A G 4: 156,199,844 C76R probably damaging Het
Ldb2 A T 5: 44,541,867 probably benign Het
Lig4 A G 8: 9,971,185 I865T probably benign Het
Lrrc46 T C 11: 97,035,875 Y154C probably damaging Het
Lrrc8a G A 2: 30,255,525 R117H possibly damaging Het
Mrpl2 A G 17: 46,648,257 I96V probably damaging Het
Mtif2 G A 11: 29,541,337 probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Ptpn23 G A 9: 110,391,636 R269W probably damaging Het
Senp2 T C 16: 22,009,664 V8A probably benign Het
Slf1 T C 13: 77,084,440 D515G probably benign Het
Spc25 G A 2: 69,202,608 Q58* probably null Het
Sult2a5 T C 7: 13,665,154 S229P probably damaging Het
Tfap2d A G 1: 19,104,580 T86A probably benign Het
Trp53bp1 A G 2: 121,211,304 V1257A probably damaging Het
Wdr6 A G 9: 108,576,228 V152A possibly damaging Het
Zdhhc7 A G 8: 120,087,923 V49A probably benign Het
Zfp648 T C 1: 154,204,925 S277P probably damaging Het
Other mutations in Chic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01648:Chic2 APN 5 75027199 missense probably damaging 1.00
IGL02327:Chic2 APN 5 75027080 nonsense probably null
IGL03201:Chic2 APN 5 75011293 splice site probably benign
R1872:Chic2 UTSW 5 75011479 missense possibly damaging 0.85
R4923:Chic2 UTSW 5 75011211 intron probably benign
R4995:Chic2 UTSW 5 75044204 missense probably damaging 0.96
R5066:Chic2 UTSW 5 75027156 missense possibly damaging 0.78
R6494:Chic2 UTSW 5 75044282 missense probably benign 0.02
Posted On 2014-02-04