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

C330024D12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL01522

Quality Score

Status

Chromosome

Chromosomal Location

67886358-67913981 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67887456 bp (GRCm39)

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
Adamts12	T	C	15: 11,065,245 (GRCm39)		probably null	Het
Adamts3	T	C	5: 89,850,802 (GRCm39)	N579S	probably benign	Het
Akr1c19	A	G	13: 4,289,098 (GRCm39)		probably benign	Het
Ankrd39	T	A	1: 36,581,142 (GRCm39)	H69L	probably damaging	Het
Apcdd1	T	A	18: 63,085,186 (GRCm39)	M461K	possibly damaging	Het
Bpifa3	G	A	2: 153,979,502 (GRCm39)	C209Y	probably damaging	Het
Cep131	T	C	11: 119,957,989 (GRCm39)	E779G	probably benign	Het
Cep85	T	C	4: 133,879,566 (GRCm39)	Q394R	probably damaging	Het
Cep85	G	T	4: 133,879,567 (GRCm39)	Q394K	probably damaging	Het
Clcn6	T	C	4: 148,101,992 (GRCm39)	Y364C	probably benign	Het
Fetub	G	A	16: 22,748,391 (GRCm39)	M1I	probably null	Het
Greb1	T	C	12: 16,751,202 (GRCm39)	I1003V	probably damaging	Het
Hsf3	A	G	X: 95,364,200 (GRCm39)		probably benign	Het
Jcad	A	G	18: 4,673,312 (GRCm39)	N358S	probably damaging	Het
Kndc1	T	C	7: 139,493,888 (GRCm39)		probably benign	Het
Lama1	A	T	17: 68,059,769 (GRCm39)		probably benign	Het
Mark2	A	G	19: 7,258,603 (GRCm39)	V50A	probably benign	Het
Mmp7	T	C	9: 7,692,229 (GRCm39)	W35R	probably damaging	Het
Ndc80	A	G	17: 71,806,320 (GRCm39)	V578A	probably benign	Het
Nfyc	T	C	4: 120,638,721 (GRCm39)	E42G	probably damaging	Het
Or1j15	A	G	2: 36,459,233 (GRCm39)	T208A	probably benign	Het
Or52b4	A	T	7: 102,184,391 (GRCm39)	I146F	probably damaging	Het
Or5d37	T	C	2: 87,923,360 (GRCm39)	K307E	possibly damaging	Het
Or8g21	A	T	9: 38,906,396 (GRCm39)	C112S	probably benign	Het
Or9i16	A	T	19: 13,864,722 (GRCm39)	L284*	probably null	Het
Pcdha11	T	C	18: 37,318,061 (GRCm39)	F925L	probably damaging	Het
Pdcd1	T	G	1: 93,968,571 (GRCm39)	R154S	probably benign	Het
Pepd	T	A	7: 34,623,865 (GRCm39)	D87E	probably benign	Het
Pfn4	A	G	12: 4,820,240 (GRCm39)	T30A	probably benign	Het
Pla2g15	A	G	8: 106,889,748 (GRCm39)	N340S	probably benign	Het
Plcb4	A	G	2: 135,844,547 (GRCm39)	D155G	probably damaging	Het
Plg	G	A	17: 12,622,956 (GRCm39)	G499S	probably damaging	Het
Plin3	C	T	17: 56,587,799 (GRCm39)	W305*	probably null	Het
Polq	C	A	16: 36,848,265 (GRCm39)	L291I	probably damaging	Het
Sanbr	A	G	11: 23,532,865 (GRCm39)		probably null	Het
Sdf2l1	T	A	16: 16,950,014 (GRCm39)	H54L	probably damaging	Het
Slc38a2	C	T	15: 96,590,936 (GRCm39)	D276N	possibly damaging	Het
Syk	A	G	13: 52,797,097 (GRCm39)	T576A	probably benign	Het
Tas2r119	G	A	15: 32,178,339 (GRCm39)	V302I	probably benign	Het
Uso1	T	C	5: 92,329,278 (GRCm39)	F389L	probably damaging	Het
Wwc2	T	A	8: 48,321,668 (GRCm39)	Y482F	unknown	Het

Other mutations in Pgpep1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02735:Pgpep1l	APN	7	67,886,721 (GRCm39)	missense	probably benign	0.00
R1742:Pgpep1l	UTSW	7	67,886,802 (GRCm39)	missense	probably damaging	1.00
R4232:Pgpep1l	UTSW	7	67,886,827 (GRCm39)	missense	probably benign	0.04
R6482:Pgpep1l	UTSW	7	67,888,815 (GRCm39)	splice site	probably null
R7343:Pgpep1l	UTSW	7	67,887,469 (GRCm39)	missense	probably damaging	1.00
R7883:Pgpep1l	UTSW	7	67,888,897 (GRCm39)	nonsense	probably null
R8084:Pgpep1l	UTSW	7	67,887,519 (GRCm39)	missense	probably benign	0.41
R9005:Pgpep1l	UTSW	7	67,887,406 (GRCm39)	missense	probably damaging	1.00
X0012:Pgpep1l	UTSW	7	67,887,394 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03