Incidental Mutation 'IGL02327:Chic2'
ID 288537
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: 0.337) question?
Stock # IGL02327
Quality Score
Status
Chromosome 5
Chromosomal Location 75165665-75205302 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 75187741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 106 (C106*)
Ref Sequence ENSEMBL: ENSMUSP00000074903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075452]
AlphaFold Q9D9G3
Predicted Effect probably null
Transcript: ENSMUST00000075452
AA Change: C106*
SMART Domains Protein: ENSMUSP00000074903
Gene: ENSMUSG00000029229
AA Change: C106*

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
Pfam:Erf4 39 141 7.9e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202336
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,943,849 (GRCm39) C29S probably damaging Het
Ccdc66 G A 14: 27,215,343 (GRCm39) A399V probably damaging Het
Ccl12 A G 11: 81,993,948 (GRCm39) I68M possibly damaging Het
Cd244a T C 1: 171,386,909 (GRCm39) V6A probably benign Het
Cfap97 T A 8: 46,623,179 (GRCm39) S190T probably damaging Het
Ctdsp2 G A 10: 126,832,251 (GRCm39) D237N probably benign Het
Cyp2a22 A T 7: 26,634,206 (GRCm39) M316K probably damaging Het
Cyp3a25 A G 5: 145,923,731 (GRCm39) F304S possibly damaging Het
Ddc A T 11: 11,813,739 (GRCm39) V209D probably damaging Het
Dhx16 A G 17: 36,194,717 (GRCm39) K446R probably benign Het
Fgd3 T C 13: 49,439,274 (GRCm39) K241E probably damaging Het
Hps1 G T 19: 42,744,784 (GRCm39) probably benign Het
Inpp4b C T 8: 82,768,591 (GRCm39) T700I probably benign Het
Kremen2 T A 17: 23,962,543 (GRCm39) M157L probably benign Het
Lrwd1 T C 5: 136,152,318 (GRCm39) Y582C probably damaging Het
Macf1 T A 4: 123,365,523 (GRCm39) R1514S probably benign Het
Mex3c T A 18: 73,723,781 (GRCm39) C625S probably damaging Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Ncf2 A T 1: 152,692,744 (GRCm39) Y87F possibly damaging Het
Neo1 T C 9: 58,810,371 (GRCm39) T1027A probably benign Het
Nfkbib G T 7: 28,458,568 (GRCm39) P347Q probably benign Het
Nr1h2 G A 7: 44,200,924 (GRCm39) probably benign Het
Or1e25 A T 11: 73,493,981 (GRCm39) T192S probably damaging Het
Or2t43 T A 11: 58,457,761 (GRCm39) R137W probably damaging Het
Or9m2 A T 2: 87,820,601 (GRCm39) I49F probably damaging Het
Oxct1 A G 15: 4,066,571 (GRCm39) probably null Het
Pak1ip1 T G 13: 41,165,893 (GRCm39) N308K probably benign Het
Prpf38a T C 4: 108,425,607 (GRCm39) R224G unknown Het
Scfd1 T C 12: 51,436,100 (GRCm39) V83A possibly damaging Het
Tmem131 C T 1: 36,838,103 (GRCm39) G1545D probably damaging Het
Trav13n-4 A T 14: 53,601,567 (GRCm39) probably benign Het
Ttc3 A G 16: 94,248,967 (GRCm39) D1155G probably damaging Het
Unc80 G A 1: 66,680,832 (GRCm39) V2143I probably benign Het
Vmn2r16 T C 5: 109,487,987 (GRCm39) Y287H probably benign Het
Vmn2r59 A G 7: 41,661,655 (GRCm39) V720A probably benign Het
Wars1 T A 12: 108,832,227 (GRCm39) probably null Het
Wdcp A G 12: 4,901,115 (GRCm39) K324E possibly damaging Het
Wdfy3 A T 5: 102,036,058 (GRCm39) L2105H probably damaging Het
Xirp2 A T 2: 67,340,444 (GRCm39) D895V probably damaging Het
Zscan10 A T 17: 23,826,546 (GRCm39) probably benign Het
Other mutations in Chic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01648:Chic2 APN 5 75,187,860 (GRCm39) missense probably damaging 1.00
IGL01757:Chic2 APN 5 75,167,428 (GRCm39) splice site probably benign
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 2015-04-16