Incidental Mutation 'IGL03006:Qpct'
ID407553
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 #IGL03006
Quality Score
Status
Chromosome17
Chromosomal Location79051906-79090243 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79070722 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 107 (V107A)
Ref Sequence ENSEMBL: ENSMUSP00000038732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040789]
Predicted Effect probably benign
Transcript: ENSMUST00000040789
AA Change: V107A

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000038732
Gene: ENSMUSG00000024084
AA Change: V107A

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,827,845 S21C probably damaging Het
1700037H04Rik A C 2: 131,151,714 D22E probably damaging Het
2210408I21Rik T C 13: 77,323,772 probably null Het
Abcc3 T C 11: 94,368,595 D340G probably benign Het
Adamts17 G T 7: 67,078,347 R879L possibly damaging Het
Cacna1f C A X: 7,626,903 T1275K probably damaging Het
Csmd2 T A 4: 128,480,765 probably benign Het
Dll1 C T 17: 15,373,592 R171Q probably benign Het
Dnm1 T A 2: 32,353,121 D30V possibly damaging Het
Fam184a G A 10: 53,698,697 S216L probably damaging Het
Fbxo33 G A 12: 59,204,319 A470V probably benign Het
Gm6401 C T 14: 41,966,894 E73K possibly damaging Het
Ighv7-1 A T 12: 113,896,525 S82R probably damaging Het
Klk1b4 A G 7: 44,211,595 I221V probably benign Het
Lama3 T C 18: 12,468,368 probably benign Het
Lrch1 A G 14: 74,813,620 L359P probably damaging Het
Mapk8ip3 T C 17: 24,901,515 T882A probably benign Het
Med12 C T X: 101,278,078 R456W probably damaging Het
Mms22l T C 4: 24,521,253 S267P probably damaging Het
Mtpap G A 18: 4,375,721 G34R possibly damaging Het
Nf1 G A 11: 79,545,431 D1966N probably damaging Het
Nlrp9c G A 7: 26,372,082 T867I probably damaging Het
Nrap C T 19: 56,347,164 V941I probably benign Het
Olfr172 T A 16: 58,761,148 K9N probably benign Het
Pcdh10 A G 3: 45,379,502 I84V probably damaging Het
Polr3d T A 14: 70,441,163 probably null Het
Prkar2a G T 9: 108,740,441 V233L probably benign Het
Prl4a1 T C 13: 28,023,376 V211A probably damaging Het
Rai1 T C 11: 60,188,205 S1032P possibly damaging Het
Rims1 G T 1: 22,296,954 T1113K probably damaging Het
Rxra C T 2: 27,759,645 T454I probably damaging Het
S100z T C 13: 95,478,619 I13V probably damaging Het
Scp2 T C 4: 108,091,280 K167E probably benign Het
Sephs2 A G 7: 127,273,034 F296L probably benign Het
Setd1b A G 5: 123,148,451 E520G unknown Het
Slc28a2 G A 2: 122,452,538 V308M possibly damaging Het
Smarcad1 T A 6: 65,083,889 I451K probably benign Het
Tarbp1 C T 8: 126,444,142 D1040N probably damaging Het
Tdrd6 T C 17: 43,625,432 D1575G probably damaging Het
Tll1 T A 8: 64,074,217 probably benign Het
Tsks A T 7: 44,950,774 probably benign Het
Ttc1 A T 11: 43,745,320 M32K probably benign Het
Txlnb C T 10: 17,838,975 A385V probably damaging Het
Zc4h2 T C X: 95,643,413 H98R 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
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 On2016-08-02