Incidental Mutation 'IGL02327:Chic2'
ID288537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chic2
Ensembl Gene ENSMUSG00000029229
Gene Namecysteine-rich hydrophobic domain 2
Synonyms4930502K01Rik, 1700081B18Rik, BTL
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL02327
Quality Score
Status
Chromosome5
Chromosomal Location74997988-75044774 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 75027080 bp
ZygosityHeterozygous
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]
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: 110,977,415 C29S probably damaging Het
Ccdc66 G A 14: 27,493,386 A399V probably damaging Het
Ccl12 A G 11: 82,103,122 I68M possibly damaging Het
Cd244 T C 1: 171,559,341 V6A probably benign Het
Cfap97 T A 8: 46,170,142 S190T probably damaging Het
Ctdsp2 G A 10: 126,996,382 D237N probably benign Het
Cyp2a22 A T 7: 26,934,781 M316K probably damaging Het
Cyp3a25 A G 5: 145,986,921 F304S possibly damaging Het
Ddc A T 11: 11,863,739 V209D probably damaging Het
Dhx16 A G 17: 35,883,825 K446R probably benign Het
Fgd3 T C 13: 49,285,798 K241E probably damaging Het
Hps1 G T 19: 42,756,345 probably benign Het
Inpp4b C T 8: 82,041,962 T700I probably benign Het
Kremen2 T A 17: 23,743,569 M157L probably benign Het
Lrwd1 T C 5: 136,123,464 Y582C probably damaging Het
Macf1 T A 4: 123,471,730 R1514S probably benign Het
Mex3c T A 18: 73,590,710 C625S probably damaging Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Ncf2 A T 1: 152,816,993 Y87F possibly damaging Het
Neo1 T C 9: 58,903,088 T1027A probably benign Het
Nfkbib G T 7: 28,759,143 P347Q probably benign Het
Nr1h2 G A 7: 44,551,500 probably benign Het
Olfr1158 A T 2: 87,990,257 I49F probably damaging Het
Olfr224 T A 11: 58,566,935 R137W probably damaging Het
Olfr384 A T 11: 73,603,155 T192S probably damaging Het
Oxct1 A G 15: 4,037,089 probably null Het
Pak1ip1 T G 13: 41,012,417 N308K probably benign Het
Prpf38a T C 4: 108,568,410 R224G unknown Het
Scfd1 T C 12: 51,389,317 V83A possibly damaging Het
Tmem131 C T 1: 36,799,022 G1545D probably damaging Het
Trav13n-4 A T 14: 53,364,110 probably benign Het
Ttc3 A G 16: 94,448,108 D1155G probably damaging Het
Unc80 G A 1: 66,641,673 V2143I probably benign Het
Vmn2r16 T C 5: 109,340,121 Y287H probably benign Het
Vmn2r59 A G 7: 42,012,231 V720A probably benign Het
Wars T A 12: 108,866,301 probably null Het
Wdcp A G 12: 4,851,115 K324E possibly damaging Het
Wdfy3 A T 5: 101,888,192 L2105H probably damaging Het
Xirp2 A T 2: 67,510,100 D895V probably damaging Het
Zscan10 A T 17: 23,607,572 probably benign Het
Other mutations in Chic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01648:Chic2 APN 5 75027199 missense probably damaging 1.00
IGL01757:Chic2 APN 5 75006767 splice site probably benign
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 On2015-04-16