Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01490:Qpct'

88828

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: 0.112) question?

Stock #

IGL01490

Quality Score

Status

Chromosome

Chromosomal Location

79359335-79397807 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79397169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 354 (V354A)

Ref Sequence

ENSEMBL: ENSMUSP00000038732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040789]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040789
AA Change: V354A

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038732
Gene: ENSMUSG00000024084
AA Change: V354A

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,336,023 (GRCm39)	Y2131C	probably damaging	Het
Ano6	T	A	15: 95,846,291 (GRCm39)	S510T	probably benign	Het
Asb16	A	T	11: 102,167,575 (GRCm39)	N314Y	probably damaging	Het
Atp6v0b	G	A	4: 117,742,303 (GRCm39)	Q150*	probably null	Het
Chct1	A	G	11: 85,069,138 (GRCm39)	D52G	probably damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cmklr2	T	C	1: 63,222,455 (GRCm39)	Y260C	probably damaging	Het
Crim1	A	G	17: 78,642,725 (GRCm39)	D481G	possibly damaging	Het
Dnajb2	T	C	1: 75,213,534 (GRCm39)	S3P	probably damaging	Het
Dnajb9	A	T	12: 44,253,869 (GRCm39)	S179R	possibly damaging	Het
Dock2	A	T	11: 34,596,608 (GRCm39)	I416N	probably damaging	Het
Dock7	G	T	4: 98,833,355 (GRCm39)		probably benign	Het
Eif6	T	C	2: 155,668,102 (GRCm39)	I46V	probably benign	Het
Fcgr1	T	C	3: 96,191,686 (GRCm39)	D374G	probably benign	Het
Gatad2b	A	G	3: 90,259,385 (GRCm39)	I374V	possibly damaging	Het
Gfpt2	T	C	11: 49,717,954 (GRCm39)		probably benign	Het
H2-M10.2	G	T	17: 36,596,377 (GRCm39)	T156K	probably damaging	Het
Il20rb	T	A	9: 100,355,207 (GRCm39)	I79F	probably damaging	Het
Kcnip3	C	T	2: 127,352,799 (GRCm39)	R44H	probably benign	Het
Lama1	A	T	17: 68,057,579 (GRCm39)	D551V	possibly damaging	Het
Mex3b	C	A	7: 82,519,035 (GRCm39)	P450Q	possibly damaging	Het
Mmp20	T	C	9: 7,628,330 (GRCm39)	L26P	probably benign	Het
Msh3	G	A	13: 92,436,813 (GRCm39)	T499M	probably damaging	Het
Myo18b	T	C	5: 112,957,566 (GRCm39)	S1466G	possibly damaging	Het
Myom3	A	G	4: 135,538,089 (GRCm39)	R1324G	possibly damaging	Het
Nxph3	A	G	11: 95,401,919 (GRCm39)	I165T	possibly damaging	Het
Prex2	G	A	1: 11,254,769 (GRCm39)		probably null	Het
Ptpn6	T	A	6: 124,705,307 (GRCm39)	E208V	probably damaging	Het
Rfx4	A	G	10: 84,676,715 (GRCm39)	I108V	possibly damaging	Het
Tmem67	A	G	4: 12,057,422 (GRCm39)		probably benign	Het
Trappc12	A	T	12: 28,796,914 (GRCm39)	I206N	probably damaging	Het
Vmn1r173	A	T	7: 23,402,132 (GRCm39)	K122N	probably benign	Het
Wdr35	G	T	12: 9,027,381 (GRCm39)	G54V	probably damaging	Het
Zfyve26	A	T	12: 79,291,147 (GRCm39)	C2153S	probably damaging	Het

Other mutations in Qpct

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Qpct	APN	17	79,378,318 (GRCm39)	missense	probably damaging	1.00
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

2013-11-18