Incidental Mutation 'IGL03168:Qpct'
ID411734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Qpct
Ensembl Gene ENSMUSG00000024084
Gene Nameglutaminyl-peptide cyclotransferase (glutaminyl cyclase)
Synonyms5730422A13Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.297) question?
Stock #IGL03168
Quality Score
Status
Chromosome17
Chromosomal Location79051906-79090243 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 79052324 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 20 (A20E)
Ref Sequence ENSEMBL: ENSMUSP00000038732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040789]
Predicted Effect unknown
Transcript: ENSMUST00000040789
AA Change: A20E
SMART Domains Protein: ENSMUSP00000038732
Gene: ENSMUSG00000024084
AA Change: A20E

DomainStartEndE-ValueType
low complexity region 8 26 N/A INTRINSIC
Pfam:Peptidase_M28 123 356 2.1e-51 PFAM
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 human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% identical to that of bovine glutaminyl cyclase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice exhibit normal motor coordination and spatial working memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,436,281 V29A probably benign Het
Ankk1 C A 9: 49,415,768 A704S possibly damaging Het
Aph1c G A 9: 66,833,337 probably benign Het
Arglu1 T A 8: 8,683,960 I119L probably benign Het
Brwd1 A T 16: 96,017,677 S1318R possibly damaging Het
Chd3 A G 11: 69,348,915 probably benign Het
Colq T C 14: 31,524,420 Y445C probably damaging Het
Cyp2a4 A T 7: 26,313,550 probably benign Het
Cyp2j7 C T 4: 96,230,037 M106I probably benign Het
Erfe T G 1: 91,371,442 N302K probably damaging Het
Fam26d C T 10: 34,041,556 V300I probably benign Het
Fggy A T 4: 95,926,809 probably benign Het
Gata3 A G 2: 9,868,814 Y290H probably damaging Het
Grik4 T C 9: 42,671,243 T136A probably damaging Het
Hc G T 2: 35,024,198 N832K probably benign Het
Jhy A T 9: 40,917,552 S353T possibly damaging Het
Krt40 T A 11: 99,543,028 Q44L possibly damaging Het
Ksr2 T C 5: 117,748,781 F794S probably damaging Het
Olfr1094 A G 2: 86,829,263 I170M possibly damaging Het
Olfr1178 A G 2: 88,391,594 M116V probably damaging Het
Olfr138 A C 17: 38,274,791 S7R probably damaging Het
Olfr166 A T 16: 19,487,219 H127L probably benign Het
Olfr198 A G 16: 59,202,247 Y60H probably damaging Het
Olfr905 A G 9: 38,473,019 T91A probably benign Het
Pcdhb17 A G 18: 37,485,772 E205G probably benign Het
Pon3 A T 6: 5,256,177 I17K possibly damaging Het
Prkd2 A G 7: 16,850,263 D347G possibly damaging Het
Prkdc A G 16: 15,834,166 I3806V probably benign Het
Rap1a A G 3: 105,750,271 S11P probably damaging Het
Rnf145 C A 11: 44,555,158 T273K probably damaging Het
Speg T C 1: 75,388,187 I298T probably damaging Het
Syt6 G A 3: 103,587,627 V303M probably damaging Het
Tpr A G 1: 150,408,757 I324M probably benign Het
Uggt2 A G 14: 119,077,668 F330L probably damaging Het
Unc45a A T 7: 80,333,133 L348Q probably damaging Het
Vmn1r17 T A 6: 57,360,598 I212F probably benign Het
Vmn2r68 A C 7: 85,221,764 N770K probably damaging Het
Zfhx3 T C 8: 108,946,500 V1394A probably damaging Het
Other mutations in Qpct
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:Qpct APN 17 79070889 missense probably damaging 1.00
IGL01490:Qpct APN 17 79089740 missense probably benign 0.10
IGL02147:Qpct APN 17 79070716 missense probably damaging 0.99
IGL03006:Qpct APN 17 79070722 missense probably benign 0.22
IGL03007:Qpct APN 17 79070865 missense probably damaging 1.00
PIT4354001:Qpct UTSW 17 79081759 missense probably benign 0.00
R0268:Qpct UTSW 17 79077652 missense probably benign 0.04
R1476:Qpct UTSW 17 79070772 missense probably benign 0.02
R1563:Qpct UTSW 17 79064063 missense probably benign
R2157:Qpct UTSW 17 79070686 missense probably benign 0.19
R2846:Qpct UTSW 17 79070742 missense probably damaging 0.98
Posted On2016-08-02