Incidental Mutation 'IGL03007:Qpct'
ID 407594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Qpct
Ensembl Gene ENSMUSG00000024084
Gene Name glutaminyl-peptide cyclotransferase (glutaminyl cyclase)
Synonyms 5730422A13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL03007
Quality Score
Status
Chromosome 17
Chromosomal Location 79359335-79397807 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79378294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 155 (F155I)
Ref Sequence ENSEMBL: ENSMUSP00000038732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040789]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040789
AA Change: F155I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038732
Gene: ENSMUSG00000024084
AA Change: F155I

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,098,034 (GRCm39) N144D possibly damaging Het
A830031A19Rik T C 11: 23,999,248 (GRCm39) probably benign Het
Ankfy1 T C 11: 72,641,347 (GRCm39) F640S probably damaging Het
Asb8 A G 15: 98,040,615 (GRCm39) Y16H probably damaging Het
Astn1 T C 1: 158,496,193 (GRCm39) probably benign Het
Btbd8 T A 5: 107,651,542 (GRCm39) V145E probably benign Het
Celf3 A G 3: 94,394,444 (GRCm39) T183A probably benign Het
Dctn1 T C 6: 83,159,690 (GRCm39) V56A probably damaging Het
Erbb2 A C 11: 98,319,819 (GRCm39) probably benign Het
Ighv6-4 A T 12: 114,370,213 (GRCm39) Y80N possibly damaging Het
Igsf9b T C 9: 27,244,378 (GRCm39) S782P probably damaging Het
Itsn1 A T 16: 91,581,050 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,282,245 (GRCm39) Y77N possibly damaging Het
Lig3 T C 11: 82,680,401 (GRCm39) F359S probably damaging Het
Mtmr6 G T 14: 60,526,984 (GRCm39) probably benign Het
Muc4 C T 16: 32,570,866 (GRCm39) S642F possibly damaging Het
Ncoa1 T A 12: 4,389,114 (GRCm39) I54F possibly damaging Het
Nfx1 C A 4: 40,984,962 (GRCm39) T362K probably benign Het
Ntrk1 T C 3: 87,690,050 (GRCm39) S449G possibly damaging Het
Odc1 T A 12: 17,598,811 (GRCm39) H230Q probably benign Het
Or10d4 T C 9: 39,580,767 (GRCm39) V138A possibly damaging Het
Or10h28 A G 17: 33,487,857 (GRCm39) E53G probably damaging Het
Or1j19 T C 2: 36,676,812 (GRCm39) S92P probably damaging Het
Or8d1 C T 9: 38,766,592 (GRCm39) T78I probably damaging Het
Plekhh2 A C 17: 84,882,388 (GRCm39) S665R possibly damaging Het
Rcor2 C A 19: 7,251,718 (GRCm39) T379K probably benign Het
Rint1 A G 5: 24,020,699 (GRCm39) N574S probably benign Het
Rsbn1 C T 3: 103,836,195 (GRCm39) A411V probably damaging Het
Sbno2 A T 10: 79,894,384 (GRCm39) probably benign Het
Sptb A G 12: 76,668,115 (GRCm39) S661P probably damaging Het
Syn3 A T 10: 85,900,778 (GRCm39) M370K possibly damaging Het
Tex101 G A 7: 24,369,906 (GRCm39) probably benign Het
Tmem255b C T 8: 13,507,066 (GRCm39) T265I possibly damaging Het
Trio G T 15: 27,902,828 (GRCm39) A211D probably damaging Het
Zfp638 C A 6: 83,961,866 (GRCm39) Q1902K probably damaging Het
Other mutations in Qpct
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:Qpct APN 17 79,378,318 (GRCm39) missense probably damaging 1.00
IGL01490:Qpct APN 17 79,397,169 (GRCm39) missense probably benign 0.10
IGL02147:Qpct APN 17 79,378,145 (GRCm39) missense probably damaging 0.99
IGL03006:Qpct APN 17 79,378,151 (GRCm39) missense probably benign 0.22
IGL03168:Qpct APN 17 79,359,753 (GRCm39) missense unknown
PIT4354001:Qpct UTSW 17 79,389,188 (GRCm39) missense probably benign 0.00
R0268:Qpct UTSW 17 79,385,081 (GRCm39) missense probably benign 0.04
R1476:Qpct UTSW 17 79,378,201 (GRCm39) missense probably benign 0.02
R1563:Qpct UTSW 17 79,371,492 (GRCm39) missense probably benign
R2157:Qpct UTSW 17 79,378,115 (GRCm39) missense probably benign 0.19
R2846:Qpct UTSW 17 79,378,171 (GRCm39) missense probably damaging 0.98
R8499:Qpct UTSW 17 79,384,996 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02