Incidental Mutation 'IGL01732:Copz1'
ID 105526
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Copz1
Ensembl Gene ENSMUSG00000060992
Gene Name coatomer protein complex, subunit zeta 1
Synonyms 5930435A22Rik, nonclathrin coat protein zeta1-COP, D4Ertd360e
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL01732
Quality Score
Status
Chromosome 15
Chromosomal Location 103181261-103208295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103206318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 151 (E151G)
Ref Sequence ENSEMBL: ENSMUSP00000155674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100162] [ENSMUST00000229549] [ENSMUST00000230893]
AlphaFold P61924
Predicted Effect probably benign
Transcript: ENSMUST00000100162
AA Change: E151G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097738
Gene: ENSMUSG00000060992
AA Change: E151G

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 12 153 2.7e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230417
Predicted Effect probably benign
Transcript: ENSMUST00000230893
AA Change: E151G

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231068
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 subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh4a1 G T 4: 139,369,471 (GRCm39) E341* probably null Het
Alpk3 A G 7: 80,707,390 (GRCm39) R5G unknown Het
Arhgef10l C T 4: 140,307,726 (GRCm39) V113M probably damaging Het
Brca2 T A 5: 150,465,852 (GRCm39) I1872K probably benign Het
Cdk17 C A 10: 93,053,907 (GRCm39) P134T probably benign Het
Cerk A G 15: 86,030,517 (GRCm39) S35P possibly damaging Het
Cfap126 T C 1: 170,954,305 (GRCm39) V174A possibly damaging Het
Cfhr1 T C 1: 139,478,606 (GRCm39) T255A probably benign Het
Clcn1 A G 6: 42,287,606 (GRCm39) probably benign Het
Cubn G A 2: 13,494,747 (GRCm39) Q101* probably null Het
Eri1 T C 8: 35,958,397 (GRCm39) E12G possibly damaging Het
Fut9 A G 4: 25,619,867 (GRCm39) F316L possibly damaging Het
Garin1a A T 6: 29,285,979 (GRCm39) H146L probably damaging Het
Gm973 A G 1: 59,669,396 (GRCm39) I816V probably benign Het
Itln1 A G 1: 171,362,348 (GRCm39) M11T probably benign Het
Klc2 C T 19: 5,159,825 (GRCm39) R458Q probably damaging Het
Lrrc8b A T 5: 105,633,826 (GRCm39) E766V probably damaging Het
Mmadhc A T 2: 50,171,197 (GRCm39) I205N probably damaging Het
Myo10 A G 15: 25,732,149 (GRCm39) I342V probably benign Het
Ncapg T A 5: 45,851,195 (GRCm39) V796D probably damaging Het
Olfm3 A C 3: 114,890,649 (GRCm39) D134A possibly damaging Het
Or3a1c T C 11: 74,046,279 (GRCm39) C100R probably damaging Het
Or51t4 T A 7: 102,598,446 (GRCm39) I248N probably damaging Het
Or56b2 T C 7: 104,337,543 (GRCm39) M107T possibly damaging Het
Phldb3 A G 7: 24,326,751 (GRCm39) E593G probably damaging Het
Plcg1 T A 2: 160,589,699 (GRCm39) D74E probably damaging Het
Plekhm3 T C 1: 64,961,407 (GRCm39) D283G probably benign Het
Pnpla6 C A 8: 3,572,616 (GRCm39) T279N probably damaging Het
Prkcq G A 2: 11,265,644 (GRCm39) probably benign Het
Rbm11 G A 16: 75,397,510 (GRCm39) A147T probably benign Het
Rnf103 A G 6: 71,487,366 (GRCm39) K666E probably damaging Het
Selenos A G 7: 65,730,137 (GRCm39) Y45C probably damaging Het
Septin11 A G 5: 93,309,085 (GRCm39) Y255C probably damaging Het
Serpinb3c T C 1: 107,199,702 (GRCm39) H273R probably benign Het
Slc35f2 A G 9: 53,713,909 (GRCm39) D141G probably damaging Het
Sntg2 A T 12: 30,362,648 (GRCm39) Y33N probably damaging Het
Snx19 C A 9: 30,373,649 (GRCm39) T904K probably damaging Het
Tenm4 A G 7: 96,544,716 (GRCm39) Y2244C probably damaging Het
Tescl A G 7: 24,032,872 (GRCm39) V151A probably damaging Het
Tnrc18 C T 5: 142,757,816 (GRCm39) V902M unknown Het
Trmt13 A G 3: 116,375,113 (GRCm39) L465S probably damaging Het
Ube2j2 T G 4: 156,041,788 (GRCm39) V249G probably damaging Het
Zan T C 5: 137,391,273 (GRCm39) K4737R unknown Het
Zc3h6 T C 2: 128,853,795 (GRCm39) I430T probably damaging Het
Zfp750 G A 11: 121,403,819 (GRCm39) S352L probably benign Het
Zfp819 A G 7: 43,265,846 (GRCm39) K34E probably benign Het
Other mutations in Copz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Copz1 APN 15 103,207,176 (GRCm39) utr 3 prime probably benign
IGL03013:Copz1 APN 15 103,204,995 (GRCm39) missense probably benign 0.41
R0539:Copz1 UTSW 15 103,199,792 (GRCm39) missense probably damaging 1.00
R0684:Copz1 UTSW 15 103,204,958 (GRCm39) critical splice acceptor site probably null
R1393:Copz1 UTSW 15 103,203,171 (GRCm39) missense probably benign 0.01
R4928:Copz1 UTSW 15 103,199,757 (GRCm39) missense probably damaging 0.96
R5935:Copz1 UTSW 15 103,203,197 (GRCm39) missense probably benign
R7493:Copz1 UTSW 15 103,204,971 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21