Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00811:Dpep1'

10296

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dpep1

Ensembl Gene

ENSMUSG00000019278

Gene Name

dipeptidase 1

Synonyms

MBD

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

IGL00811

Quality Score

Status

Chromosome

Chromosomal Location

123913069-123928551 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 123926354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000759] [ENSMUST00000019422] [ENSMUST00000127664] [ENSMUST00000212409] [ENSMUST00000212773]

AlphaFold

P31428

Predicted Effect

probably benign
Transcript: ENSMUST00000000759

SMART Domains

Protein: ENSMUSP00000000759
Gene: ENSMUSG00000000743

Domain	Start	End	E-Value	Type
Pfam:Snf7	4	174	6.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019422

SMART Domains

Protein: ENSMUSP00000019422
Gene: ENSMUSG00000019278

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M19	25	352	4.1e-122	PFAM
low complexity region	398	410	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212409

Predicted Effect

probably benign
Transcript: ENSMUST00000212773

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for disruption of this gene ar phenotypically normal although defects have been noted in the conversion of leukotriene D4 to leukotrience E4. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agps	T	C	2: 75,756,316 (GRCm39)	F649L	probably benign	Het
Agrn	A	T	4: 156,253,231 (GRCm39)	D1752E	possibly damaging	Het
Det1	A	G	7: 78,489,807 (GRCm39)	V406A	probably benign	Het
Dhx57	A	G	17: 80,560,672 (GRCm39)	V955A	probably damaging	Het
Epha7	T	A	4: 28,961,285 (GRCm39)		probably benign	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Fbxl5	A	G	5: 43,915,567 (GRCm39)	L614P	probably damaging	Het
Fem1b	A	T	9: 62,704,201 (GRCm39)	V353D	probably damaging	Het
Fgf22	C	T	10: 79,592,724 (GRCm39)	P140S	probably damaging	Het
Ifi47	T	C	11: 48,986,244 (GRCm39)	F4L	probably benign	Het
Kmt2c	A	C	5: 25,579,531 (GRCm39)	S588R	possibly damaging	Het
Nmrk1	T	A	19: 18,622,511 (GRCm39)		probably benign	Het
Nomo1	C	T	7: 45,732,732 (GRCm39)	A1165V	possibly damaging	Het
Osmr	G	A	15: 6,845,147 (GRCm39)	T873I	probably benign	Het
Pclo	A	G	5: 14,730,024 (GRCm39)		probably benign	Het
Rims2	T	A	15: 39,155,544 (GRCm39)	M115K	probably damaging	Het
Rora	C	A	9: 69,278,572 (GRCm39)	T299K	probably benign	Het
Sema6d	C	A	2: 124,500,389 (GRCm39)	P386Q	probably damaging	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Sox18	T	C	2: 181,312,213 (GRCm39)	E306G	probably benign	Het
Sptlc1	C	A	13: 53,521,414 (GRCm39)	A121S	probably damaging	Het
Ssh2	C	T	11: 77,332,752 (GRCm39)	A411V	probably damaging	Het
Trim13	A	G	14: 61,842,306 (GRCm39)		probably null	Het
Vps13c	T	A	9: 67,855,463 (GRCm39)	N2509K	probably damaging	Het

Other mutations in Dpep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02354:Dpep1	APN	8	123,926,957 (GRCm39)	missense	probably benign
IGL02361:Dpep1	APN	8	123,926,957 (GRCm39)	missense	probably benign
IGL02527:Dpep1	APN	8	123,925,487 (GRCm39)	missense	probably damaging	1.00
IGL02723:Dpep1	APN	8	123,920,888 (GRCm39)	missense	possibly damaging	0.95
R0190:Dpep1	UTSW	8	123,927,447 (GRCm39)	missense	probably benign	0.21
R1348:Dpep1	UTSW	8	123,925,899 (GRCm39)	missense	probably benign	0.02
R1719:Dpep1	UTSW	8	123,927,486 (GRCm39)	missense	possibly damaging	0.67
R2060:Dpep1	UTSW	8	123,927,130 (GRCm39)	missense	probably damaging	0.99
R2081:Dpep1	UTSW	8	123,926,117 (GRCm39)	missense	probably damaging	0.97
R2279:Dpep1	UTSW	8	123,920,883 (GRCm39)	missense	probably benign	0.04
R3931:Dpep1	UTSW	8	123,925,518 (GRCm39)	missense	possibly damaging	0.73
R4027:Dpep1	UTSW	8	123,920,892 (GRCm39)	missense	probably benign	0.12
R4836:Dpep1	UTSW	8	123,927,106 (GRCm39)	missense	probably damaging	1.00
R5007:Dpep1	UTSW	8	123,926,117 (GRCm39)	missense	probably damaging	0.97
R5149:Dpep1	UTSW	8	123,927,177 (GRCm39)	missense	probably benign	0.01
R5268:Dpep1	UTSW	8	123,920,828 (GRCm39)	missense	probably benign	0.12
R5774:Dpep1	UTSW	8	123,926,721 (GRCm39)	missense	probably damaging	1.00
R6041:Dpep1	UTSW	8	123,927,394 (GRCm39)	missense	probably damaging	0.99
R6335:Dpep1	UTSW	8	123,927,391 (GRCm39)	missense	probably damaging	1.00
R7705:Dpep1	UTSW	8	123,927,460 (GRCm39)	missense	possibly damaging	0.94
R7993:Dpep1	UTSW	8	123,927,460 (GRCm39)	missense	possibly damaging	0.94
R8130:Dpep1	UTSW	8	123,926,965 (GRCm39)	missense	probably damaging	1.00
R8810:Dpep1	UTSW	8	123,926,764 (GRCm39)	missense	probably benign	0.02
T0975:Dpep1	UTSW	8	123,927,727 (GRCm39)	missense	probably damaging	0.99
X0005:Dpep1	UTSW	8	123,927,727 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-12-06