Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01522:Pgpep1l'

89448

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pgpep1l

Ensembl Gene

ENSMUSG00000030553

Gene Name

pyroglutamyl-peptidase I-like

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL01522

Quality Score

Status

Chromosome

Chromosomal Location

68236610-68264233 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68237708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 48 (M48T)

Ref Sequence

ENSEMBL: ENSMUSP00000032770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005671] [ENSMUST00000032770] [ENSMUST00000207874]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005671

SMART Domains

Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533

Domain	Start	End	E-Value	Type
Pfam:Recep_L_domain	51	161	1.6e-29	PFAM
FU	227	270	2.98e-12	SMART
Pfam:Recep_L_domain	353	467	3.8e-32	PFAM
FN3	490	593	4.67e-2	SMART
FN3	612	815	1.95e-4	SMART
FN3	833	915	7.4e-5	SMART
low complexity region	937	954	N/A	INTRINSIC
TyrKc	1000	1268	8.51e-141	SMART
low complexity region	1285	1303	N/A	INTRINSIC
low complexity region	1306	1319	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032770
AA Change: M48T

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032770
Gene: ENSMUSG00000030553
AA Change: M48T

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C15	5	111	8.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207874
AA Change: M124T

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,582,865 (GRCm38)		probably null	Het
Adamts12	T	C	15: 11,065,159 (GRCm38)		probably null	Het
Adamts3	T	C	5: 89,702,943 (GRCm38)	N579S	probably benign	Het
Akr1c19	A	G	13: 4,239,099 (GRCm38)		probably benign	Het
Ankrd39	T	A	1: 36,542,061 (GRCm38)	H69L	probably damaging	Het
Apcdd1	T	A	18: 62,952,115 (GRCm38)	M461K	possibly damaging	Het
Bpifa3	G	A	2: 154,137,582 (GRCm38)	C209Y	probably damaging	Het
Cep131	T	C	11: 120,067,163 (GRCm38)	E779G	probably benign	Het
Cep85	G	T	4: 134,152,256 (GRCm38)	Q394K	probably damaging	Het
Cep85	T	C	4: 134,152,255 (GRCm38)	Q394R	probably damaging	Het
Clcn6	T	C	4: 148,017,535 (GRCm38)	Y364C	probably benign	Het
Fetub	G	A	16: 22,929,641 (GRCm38)	M1I	probably null	Het
Greb1	T	C	12: 16,701,201 (GRCm38)	I1003V	probably damaging	Het
Hsf3	A	G	X: 96,320,594 (GRCm38)		probably benign	Het
Jcad	A	G	18: 4,673,312 (GRCm38)	N358S	probably damaging	Het
Kndc1	T	C	7: 139,913,972 (GRCm38)		probably benign	Het
Lama1	A	T	17: 67,752,774 (GRCm38)		probably benign	Het
Mark2	A	G	19: 7,281,238 (GRCm38)	V50A	probably benign	Het
Mmp7	T	C	9: 7,692,228 (GRCm38)	W35R	probably damaging	Het
Ndc80	A	G	17: 71,499,325 (GRCm38)	V578A	probably benign	Het
Nfyc	T	C	4: 120,781,524 (GRCm38)	E42G	probably damaging	Het
Olfr1164	T	C	2: 88,093,016 (GRCm38)	K307E	possibly damaging	Het
Olfr1504	A	T	19: 13,887,358 (GRCm38)	L284*	probably null	Het
Olfr344	A	G	2: 36,569,221 (GRCm38)	T208A	probably benign	Het
Olfr547	A	T	7: 102,535,184 (GRCm38)	I146F	probably damaging	Het
Olfr935	A	T	9: 38,995,100 (GRCm38)	C112S	probably benign	Het
Pcdha11	T	C	18: 37,185,008 (GRCm38)	F925L	probably damaging	Het
Pdcd1	T	G	1: 94,040,846 (GRCm38)	R154S	probably benign	Het
Pepd	T	A	7: 34,924,440 (GRCm38)	D87E	probably benign	Het
Pfn4	A	G	12: 4,770,240 (GRCm38)	T30A	probably benign	Het
Pla2g15	A	G	8: 106,163,116 (GRCm38)	N340S	probably benign	Het
Plcb4	A	G	2: 136,002,627 (GRCm38)	D155G	probably damaging	Het
Plg	G	A	17: 12,404,069 (GRCm38)	G499S	probably damaging	Het
Plin3	C	T	17: 56,280,799 (GRCm38)	W305*	probably null	Het
Polq	C	A	16: 37,027,903 (GRCm38)	L291I	probably damaging	Het
Sdf2l1	T	A	16: 17,132,150 (GRCm38)	H54L	probably damaging	Het
Slc38a2	C	T	15: 96,693,055 (GRCm38)	D276N	possibly damaging	Het
Syk	A	G	13: 52,643,061 (GRCm38)	T576A	probably benign	Het
Tas2r119	G	A	15: 32,178,193 (GRCm38)	V302I	probably benign	Het
Uso1	T	C	5: 92,181,419 (GRCm38)	F389L	probably damaging	Het
Wwc2	T	A	8: 47,868,633 (GRCm38)	Y482F	unknown	Het

Other mutations in Pgpep1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02735:Pgpep1l	APN	7	68,236,973 (GRCm38)	missense	probably benign	0.00
R1742:Pgpep1l	UTSW	7	68,237,054 (GRCm38)	missense	probably damaging	1.00
R4232:Pgpep1l	UTSW	7	68,237,079 (GRCm38)	missense	probably benign	0.04
R6482:Pgpep1l	UTSW	7	68,239,067 (GRCm38)	splice site	probably null
R7343:Pgpep1l	UTSW	7	68,237,721 (GRCm38)	missense	probably damaging	1.00
R7883:Pgpep1l	UTSW	7	68,239,149 (GRCm38)	nonsense	probably null
R8084:Pgpep1l	UTSW	7	68,237,771 (GRCm38)	missense	probably benign	0.41
R9005:Pgpep1l	UTSW	7	68,237,658 (GRCm38)	missense	probably damaging	1.00
X0012:Pgpep1l	UTSW	7	68,237,646 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-12-03