Incidental Mutation 'IGL00650:Qpct'
| ID |
13712 |
| 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)
|
| Stock # |
IGL00650
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
79359335-79397807 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79378318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 163
(V163M)
|
| 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: V163M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038732
Gene: ENSMUSG00000024084
AA Change: V163M
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530401A14Rik |
A |
G |
11: 81,784,694 (GRCm39) |
|
probably benign |
Het |
| 9130230L23Rik |
T |
C |
5: 66,147,187 (GRCm39) |
N76S |
unknown |
Het |
| Chm |
A |
G |
X: 111,953,292 (GRCm39) |
F574S |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,538,128 (GRCm39) |
I3619T |
possibly damaging |
Het |
| Dock11 |
A |
T |
X: 35,270,246 (GRCm39) |
|
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,163,622 (GRCm39) |
M818K |
possibly damaging |
Het |
| Ghrhr |
A |
G |
6: 55,356,110 (GRCm39) |
T68A |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,159,796 (GRCm39) |
|
probably benign |
Het |
| Inpp5f |
T |
A |
7: 128,265,991 (GRCm39) |
W211R |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,675,692 (GRCm39) |
I1151M |
probably benign |
Het |
| Klra9 |
T |
C |
6: 130,156,060 (GRCm39) |
K232E |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,380,664 (GRCm39) |
N3664S |
probably damaging |
Het |
| Ndst2 |
A |
C |
14: 20,779,736 (GRCm39) |
I168S |
possibly damaging |
Het |
| Nmral1 |
A |
T |
16: 4,534,240 (GRCm39) |
L67Q |
probably benign |
Het |
| Nrk |
G |
T |
X: 137,873,670 (GRCm39) |
V322F |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,331,096 (GRCm39) |
|
probably null |
Het |
| Scn1a |
C |
T |
2: 66,111,137 (GRCm39) |
G1484D |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,275,626 (GRCm39) |
D411G |
possibly damaging |
Het |
| Xpo5 |
T |
C |
17: 46,519,172 (GRCm39) |
Y204H |
probably damaging |
Het |
| Zrsr2 |
A |
T |
X: 162,722,313 (GRCm39) |
M313K |
probably benign |
Het |
|
| Other mutations in Qpct |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03007:Qpct
|
APN |
17 |
79,378,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-12-06 |
Incidental Mutation