Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01566:Mme'

90995

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mme

Ensembl Gene

ENSMUSG00000027820

Gene Name

membrane metallo endopeptidase

Synonyms

neprilysin, 6030454K05Rik, neutral endopeptidase, NEP, CD10

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01566

Quality Score

Status

Chromosome

Chromosomal Location

63202632-63291134 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 63269350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029400] [ENSMUST00000194134] [ENSMUST00000194150]

AlphaFold

Q61391

Predicted Effect

probably benign
Transcript: ENSMUST00000029400

SMART Domains

Protein: ENSMUSP00000029400
Gene: ENSMUSG00000027820

Domain	Start	End	E-Value	Type
PDB:2YVC\|F	2	23	5e-7	PDB
transmembrane domain	29	51	N/A	INTRINSIC
Pfam:Peptidase_M13_N	80	483	8.7e-103	PFAM
low complexity region	489	507	N/A	INTRINSIC
low complexity region	515	526	N/A	INTRINSIC
Pfam:Peptidase_M13	543	749	5.8e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194134

SMART Domains

Protein: ENSMUSP00000142205
Gene: ENSMUSG00000027820

Domain	Start	End	E-Value	Type
PDB:2YVC\|F	2	23	5e-7	PDB
transmembrane domain	29	51	N/A	INTRINSIC
Pfam:Peptidase_M13_N	80	483	8.4e-134	PFAM
low complexity region	489	507	N/A	INTRINSIC
low complexity region	515	526	N/A	INTRINSIC
Pfam:Peptidase_M13	543	749	3.3e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194150

SMART Domains

Protein: ENSMUSP00000141544
Gene: ENSMUSG00000027820

Domain	Start	End	E-Value	Type
PDB:2YVC\|F	2	23	5e-7	PDB
transmembrane domain	29	51	N/A	INTRINSIC
Pfam:Peptidase_M13_N	80	483	8.4e-134	PFAM
low complexity region	489	507	N/A	INTRINSIC
low complexity region	515	526	N/A	INTRINSIC
Pfam:Peptidase_M13	543	749	3.3e-67	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 a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced allergic contact dermatitis responses, diffuse hepatic necrosis after LPS shock or treatment with a combination of TNF and interleukin-1 beta, and increased brain and plasma amyloid beta peptide levels. [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
AB124611	T	C	9: 21,447,285 (GRCm39)	V149A	possibly damaging	Het
Casc3	T	C	11: 98,714,227 (GRCm39)		probably null	Het
Dhdds	T	C	4: 133,718,648 (GRCm39)	I162V	probably damaging	Het
Dsg1a	T	C	18: 20,469,840 (GRCm39)		probably benign	Het
E030025P04Rik	T	A	11: 109,034,714 (GRCm39)	D58V	unknown	Het
Gcn1	A	G	5: 115,749,117 (GRCm39)	N1883S	probably damaging	Het
Gucy1a2	T	C	9: 3,634,661 (GRCm39)	L235P	probably damaging	Het
Jkampl	G	A	6: 73,445,673 (GRCm39)	T292I	probably damaging	Het
Kprp	T	C	3: 92,731,271 (GRCm39)	N593S	probably benign	Het
Nr6a1	G	T	2: 38,617,901 (GRCm39)	Q419K	probably benign	Het
Pcolce	A	G	5: 137,603,422 (GRCm39)		probably benign	Het
Ppp2cb	C	A	8: 34,101,791 (GRCm39)	R110S	probably benign	Het
Slc35f1	A	G	10: 52,965,551 (GRCm39)	Y322C	probably damaging	Het
Slc5a3	T	C	16: 91,874,465 (GRCm39)	V174A	probably damaging	Het
St8sia4	G	T	1: 95,581,482 (GRCm39)	R87S	probably benign	Het
Tfdp2	A	G	9: 96,177,083 (GRCm39)	E5G	probably damaging	Het
Tmem161b	T	C	13: 84,442,881 (GRCm39)	I267T	probably benign	Het
Ttn	A	G	2: 76,782,365 (GRCm39)	L957P	probably damaging	Het
Ttn	A	G	2: 76,612,445 (GRCm39)		probably benign	Het
Ubqln1	A	T	13: 58,327,481 (GRCm39)		probably null	Het
Wdfy3	A	C	5: 102,044,454 (GRCm39)		probably benign	Het

Other mutations in Mme

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Mme	APN	3	63,247,465 (GRCm39)	missense	possibly damaging	0.95
IGL00329:Mme	APN	3	63,287,749 (GRCm39)	nonsense	probably null
IGL01013:Mme	APN	3	63,235,281 (GRCm39)	splice site	probably null
IGL01316:Mme	APN	3	63,247,580 (GRCm39)	splice site	probably benign
IGL01333:Mme	APN	3	63,253,512 (GRCm39)	missense	probably damaging	1.00
IGL01392:Mme	APN	3	63,269,467 (GRCm39)	missense	probably damaging	1.00
IGL01739:Mme	APN	3	63,247,534 (GRCm39)	missense	possibly damaging	0.78
IGL01996:Mme	APN	3	63,250,970 (GRCm39)	missense	probably benign	0.11
IGL02125:Mme	APN	3	63,256,070 (GRCm39)	missense	probably damaging	1.00
IGL02154:Mme	APN	3	63,250,976 (GRCm39)	missense	probably benign
IGL03214:Mme	APN	3	63,237,111 (GRCm39)	missense	possibly damaging	0.72
IGL03291:Mme	APN	3	63,253,525 (GRCm39)	missense	probably benign	0.00
R0498:Mme	UTSW	3	63,253,487 (GRCm39)	missense	probably damaging	1.00
R0595:Mme	UTSW	3	63,235,602 (GRCm39)	missense	probably benign	0.27
R0980:Mme	UTSW	3	63,247,550 (GRCm39)	missense	probably benign
R1210:Mme	UTSW	3	63,251,027 (GRCm39)	missense	probably benign	0.01
R1600:Mme	UTSW	3	63,272,479 (GRCm39)	missense	probably damaging	1.00
R1852:Mme	UTSW	3	63,235,467 (GRCm39)	missense	probably benign	0.00
R1852:Mme	UTSW	3	63,235,404 (GRCm39)	missense	probably benign	0.31
R2037:Mme	UTSW	3	63,235,681 (GRCm39)	missense	probably null	1.00
R2177:Mme	UTSW	3	63,208,426 (GRCm39)	missense	probably benign	0.02
R2200:Mme	UTSW	3	63,287,713 (GRCm39)	missense	possibly damaging	0.87
R2306:Mme	UTSW	3	63,207,673 (GRCm39)	missense	probably benign	0.00
R2847:Mme	UTSW	3	63,252,620 (GRCm39)	missense	possibly damaging	0.91
R3008:Mme	UTSW	3	63,266,378 (GRCm39)	missense	probably damaging	1.00
R3749:Mme	UTSW	3	63,250,961 (GRCm39)	missense	probably damaging	1.00
R3876:Mme	UTSW	3	63,269,480 (GRCm39)	splice site	probably benign
R3961:Mme	UTSW	3	63,252,613 (GRCm39)	missense	probably damaging	1.00
R3981:Mme	UTSW	3	63,235,485 (GRCm39)	missense	probably damaging	1.00
R3982:Mme	UTSW	3	63,235,485 (GRCm39)	missense	probably damaging	1.00
R3983:Mme	UTSW	3	63,235,485 (GRCm39)	missense	probably damaging	1.00
R4494:Mme	UTSW	3	63,254,613 (GRCm39)	missense	probably benign
R4589:Mme	UTSW	3	63,287,693 (GRCm39)	missense	probably benign
R4706:Mme	UTSW	3	63,256,133 (GRCm39)	missense	possibly damaging	0.92
R4871:Mme	UTSW	3	63,247,453 (GRCm39)	missense	probably benign	0.01
R4957:Mme	UTSW	3	63,250,910 (GRCm39)	splice site	probably benign
R5053:Mme	UTSW	3	63,272,270 (GRCm39)	missense	probably damaging	1.00
R5316:Mme	UTSW	3	63,276,375 (GRCm39)	missense	probably damaging	1.00
R5502:Mme	UTSW	3	63,207,702 (GRCm39)	nonsense	probably null
R5579:Mme	UTSW	3	63,256,066 (GRCm39)	missense	probably damaging	1.00
R6007:Mme	UTSW	3	63,250,929 (GRCm39)	nonsense	probably null
R6022:Mme	UTSW	3	63,272,218 (GRCm39)	missense	probably damaging	1.00
R6143:Mme	UTSW	3	63,207,532 (GRCm39)	splice site	probably null
R6154:Mme	UTSW	3	63,207,674 (GRCm39)	missense	probably damaging	0.98
R6333:Mme	UTSW	3	63,249,382 (GRCm39)	missense	probably benign	0.00
R6476:Mme	UTSW	3	63,251,056 (GRCm39)	critical splice donor site	probably null
R6514:Mme	UTSW	3	63,272,265 (GRCm39)	nonsense	probably null
R6711:Mme	UTSW	3	63,249,339 (GRCm39)	missense	possibly damaging	0.93
R6842:Mme	UTSW	3	63,269,465 (GRCm39)	missense	probably damaging	1.00
R6996:Mme	UTSW	3	63,253,523 (GRCm39)	missense	possibly damaging	0.63
R7040:Mme	UTSW	3	63,276,344 (GRCm39)	missense	probably damaging	1.00
R7043:Mme	UTSW	3	63,252,638 (GRCm39)	nonsense	probably null
R7084:Mme	UTSW	3	63,235,638 (GRCm39)	missense	probably damaging	0.98
R7126:Mme	UTSW	3	63,276,322 (GRCm39)	missense	probably damaging	0.97
R7783:Mme	UTSW	3	63,272,288 (GRCm39)	missense	probably damaging	1.00
R8501:Mme	UTSW	3	63,234,156 (GRCm39)	missense	probably damaging	1.00
R8857:Mme	UTSW	3	63,256,070 (GRCm39)	missense	probably damaging	1.00
R9453:Mme	UTSW	3	63,272,306 (GRCm39)	missense	possibly damaging	0.90
R9556:Mme	UTSW	3	63,272,225 (GRCm39)	missense	probably damaging	0.97
R9648:Mme	UTSW	3	63,208,426 (GRCm39)	missense	probably benign	0.02
X0058:Mme	UTSW	3	63,272,442 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09