Incidental Mutation 'IGL00848:Copz1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Copz1
Ensembl Gene ENSMUSG00000060992
Gene Namecoatomer protein complex, subunit zeta 1
Synonyms5930435A22Rik, D4Ertd360e, nonclathrin coat protein zeta1-COP
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.928) question?
Stock #IGL00848
Quality Score
Chromosomal Location103272714-103299868 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to A at 103298749 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100162] [ENSMUST00000229549] [ENSMUST00000230893]
Predicted Effect probably benign
Transcript: ENSMUST00000100162
SMART Domains Protein: ENSMUSP00000097738
Gene: ENSMUSG00000060992

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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,246,724 E869G probably damaging Het
A930011G23Rik A G 5: 99,222,378 F508L probably damaging Het
Adgra3 C T 5: 50,001,949 G320R probably damaging Het
Arhgef40 G A 14: 51,987,427 V10M probably damaging Het
Birc6 C T 17: 74,696,393 Q4739* probably null Het
Cdh20 C T 1: 104,934,256 H54Y probably benign Het
Cep112 A G 11: 108,472,060 D202G probably damaging Het
Cfhr2 T A 1: 139,831,232 T27S probably benign Het
Copa T A 1: 172,110,688 C523S possibly damaging Het
Crybg1 A C 10: 43,967,818 probably null Het
Cyp3a11 A T 5: 145,862,465 I304N probably damaging Het
Eif2d C T 1: 131,164,436 Q315* probably null Het
Fgfr4 A G 13: 55,159,170 E224G probably damaging Het
Fndc3b A T 3: 27,451,509 L870Q probably damaging Het
Glt8d2 C T 10: 82,662,165 probably null Het
Gpat3 A T 5: 100,893,144 M357L probably benign Het
Hrnr A T 3: 93,322,897 K147N unknown Het
Kbtbd3 T A 9: 4,331,184 S519R probably damaging Het
Kcnv1 A G 15: 45,113,228 I221T probably benign Het
Khdrbs2 C T 1: 32,472,752 A266V probably benign Het
Lmtk2 A G 5: 144,176,398 E1312G probably benign Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Mos T C 4: 3,871,459 N119S probably damaging Het
Mtpap C T 18: 4,380,717 H132Y probably benign Het
Myo18b G A 5: 112,871,485 T642I probably damaging Het
Myo5c A G 9: 75,289,181 E1303G probably benign Het
Napepld A T 5: 21,683,193 M86K probably benign Het
Nvl T A 1: 181,105,125 D709V probably damaging Het
Pak1ip1 A T 13: 41,012,623 E341D probably benign Het
Pgghg G A 7: 140,942,404 G32D probably damaging Het
Phlpp1 G A 1: 106,376,255 R1096H probably damaging Het
Phlpp1 C T 1: 106,339,448 T697M probably damaging Het
Piwil4 T G 9: 14,727,411 T273P probably damaging Het
Pkd2l1 A T 19: 44,192,279 probably benign Het
Polr3b A G 10: 84,680,377 D623G probably damaging Het
Pop1 A G 15: 34,508,729 T317A probably benign Het
Prune2 A T 19: 17,119,118 K662I probably damaging Het
Ptger4 T C 15: 5,235,108 I356V probably benign Het
Rhbdd1 T C 1: 82,340,444 L16P possibly damaging Het
Rps11 C T 7: 45,123,501 R22Q probably benign Het
Sfxn2 A T 19: 46,590,157 I204F probably damaging Het
Slc26a9 C T 1: 131,757,528 S365F probably damaging Het
Slc47a2 C T 11: 61,302,233 V565M probably benign Het
Spns1 T C 7: 126,371,242 probably null Het
Stk3 T A 15: 35,114,622 E48V possibly damaging Het
Svs3b T C 2: 164,256,101 E100G probably damaging Het
Tjp1 T C 7: 65,303,194 Q1464R probably benign Het
Tspan10 T C 11: 120,444,270 S69P probably benign Het
Usp32 T C 11: 85,051,181 probably benign Het
Vps45 G T 3: 96,056,973 probably benign Het
Zfp106 A T 2: 120,512,727 N1790K probably damaging Het
Zfp704 A T 3: 9,565,239 S21T possibly damaging Het
Other mutations in Copz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01732:Copz1 APN 15 103297891 missense probably benign 0.18
IGL03013:Copz1 APN 15 103296568 missense probably benign 0.41
R0539:Copz1 UTSW 15 103291365 missense probably damaging 1.00
R0684:Copz1 UTSW 15 103296531 critical splice acceptor site probably null
R1393:Copz1 UTSW 15 103294744 missense probably benign 0.01
R4928:Copz1 UTSW 15 103291330 missense probably damaging 0.96
R5935:Copz1 UTSW 15 103294770 missense probably benign
Posted On2013-04-17