Incidental Mutation 'IGL00650:Qpct'
ID13712
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 #IGL00650
Quality Score
Status
Chromosome17
Chromosomal Location79051906-79090243 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 79070889 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 163 (V163M)
Ref Sequence ENSEMBL: ENSMUSP00000038732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040789]
Predicted Effect probably damaging
Transcript: ENSMUST00000040789
AA Change: V163M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038732
Gene: ENSMUSG00000024084
AA Change: V163M

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik A G 11: 81,893,868 probably benign Het
9130230L23Rik T C 5: 65,989,844 N76S unknown Het
Chm A G X: 113,043,595 F574S probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Dnah3 A G 7: 119,938,905 I3619T possibly damaging Het
Dock11 A T X: 36,006,593 probably benign Het
Duox1 T A 2: 122,333,141 M818K possibly damaging Het
Ghrhr A G 6: 55,379,125 T68A probably benign Het
Hltf T C 3: 20,105,632 probably benign Het
Inpp5f T A 7: 128,664,267 W211R probably benign Het
Jcad A G 18: 4,675,692 I1151M probably benign Het
Klra9 T C 6: 130,179,097 K232E probably benign Het
Mycbp2 T C 14: 103,143,228 N3664S probably damaging Het
Ndst2 A C 14: 20,729,668 I168S possibly damaging Het
Nmral1 A T 16: 4,716,376 L67Q probably benign Het
Nrk G T X: 138,972,921 V322F probably damaging Het
Rsf1 T C 7: 97,681,889 probably null Het
Scn1a C T 2: 66,280,793 G1484D probably damaging Het
Ttc37 A G 13: 76,127,507 D411G possibly damaging Het
Xpo5 T C 17: 46,208,246 Y204H probably damaging Het
Zrsr2 A T X: 163,939,317 M313K probably benign Het
Other mutations in Qpct
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03168:Qpct APN 17 79052324 missense unknown
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 On2012-12-06