Mutagenetix > Incidental Mutation

Incidental Mutation 'R7373:Mmel1'

572208

Institutional Source

Beutler Lab

Gene Symbol

Mmel1

Ensembl Gene

ENSMUSG00000058183

Gene Name

membrane metallo-endopeptidase-like 1

Synonyms

NEPLP alpha, NEPLP beta, Mell1, SEP, Nep2, Nl1, NEPLP gamma

MMRRC Submission

045456-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R7373 (G1)

Quality Score

80.0075

Status

Not validated

Chromosome

Chromosomal Location

154954042-154979985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154973665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 316 (L316Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105634]

AlphaFold

no structure available at present

Predicted Effect

not run
Transcript: ENSMUST00000105634
AA Change: L316Q

SMART Domains

Protein: ENSMUSP00000101259
Gene: ENSMUSG00000058183
AA Change: L316Q

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Peptidase_M13_N	76	512	1.4e-105	PFAM
Pfam:Peptidase_M13	573	781	4e-74	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (57/58)

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 member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired male fertility. Female fertility is not affected. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	G	A	11: 50,686,262 (GRCm39)	A1027T	probably benign	Het
Aldh7a1	G	A	18: 56,675,389 (GRCm39)	T260M	possibly damaging	Het
Anks3	T	C	16: 4,773,735 (GRCm39)	Y187C	probably benign	Het
Atp2c2	A	T	8: 120,456,991 (GRCm39)	I198F	probably benign	Het
Bsn	T	C	9: 107,990,683 (GRCm39)	T1690A	probably damaging	Het
Catsper3	T	C	13: 55,955,945 (GRCm39)	I350T	possibly damaging	Het
Cdcp1	C	T	9: 123,006,965 (GRCm39)	R594H	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cldn1	G	T	16: 26,179,606 (GRCm39)	P154T	probably damaging	Het
Cntnap5a	A	T	1: 116,508,367 (GRCm39)	N1293I	probably benign	Het
Cpsf4l	C	T	11: 113,590,657 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,880,136 (GRCm39)	T351A	probably benign	Het
Csmd1	T	C	8: 16,042,713 (GRCm39)	N2340S	probably damaging	Het
Dennd4a	C	A	9: 64,804,551 (GRCm39)	Q1297K	probably benign	Het
Dll3	A	G	7: 27,994,057 (GRCm39)	V460A	probably benign	Het
Dnah8	T	C	17: 30,986,939 (GRCm39)		probably null	Het
Dst	G	T	1: 34,227,472 (GRCm39)	L1688F	probably benign	Het
Ehmt1	A	G	2: 24,809,585 (GRCm39)	M1T	probably null	Het
Fasn	A	T	11: 120,704,802 (GRCm39)	L1261Q	possibly damaging	Het
Fat1	A	G	8: 45,479,702 (GRCm39)	D2916G	probably damaging	Het
Fgfr3	C	A	5: 33,885,034 (GRCm39)	F49L	probably benign	Het
Hlx	T	C	1: 184,463,062 (GRCm39)	T197A	probably benign	Het
Hormad1	A	T	3: 95,483,628 (GRCm39)	T147S	probably damaging	Het
Igf1r	T	A	7: 67,844,826 (GRCm39)	Y866*	probably null	Het
Itgb8	A	G	12: 119,166,210 (GRCm39)	V107A	probably benign	Het
Kat2a	C	T	11: 100,599,392 (GRCm39)	A533T	probably benign	Het
Kif20b	T	C	19: 34,913,071 (GRCm39)	L328P	probably damaging	Het
Lims1	T	C	10: 58,245,442 (GRCm39)	F157S	probably damaging	Het
Lrp2	G	T	2: 69,331,036 (GRCm39)	H1673Q	probably damaging	Het
Lrrc46	C	A	11: 96,929,706 (GRCm39)	M43I	probably benign	Het
Lrrk2	T	C	15: 91,584,207 (GRCm39)		probably null	Het
Meox2	A	T	12: 37,158,797 (GRCm39)		probably benign	Het
Mff	A	G	1: 82,714,838 (GRCm39)		probably null	Het
Mfsd5	T	A	15: 102,189,427 (GRCm39)	F266L	probably damaging	Het
Miga2	A	G	2: 30,272,083 (GRCm39)	T468A	probably damaging	Het
Ndufa9	C	A	6: 126,811,421 (GRCm39)	G232C	probably damaging	Het
Obox2	A	T	7: 15,131,145 (GRCm39)	K84*	probably null	Het
Or4f58	T	A	2: 111,851,787 (GRCm39)	R137S	probably benign	Het
Or51a39	T	A	7: 102,363,306 (GRCm39)	I105F	possibly damaging	Het
Otogl	G	T	10: 107,737,112 (GRCm39)	Q101K	probably damaging	Het
Pcnx2	C	T	8: 126,534,766 (GRCm39)	V1288M	probably damaging	Het
Pde10a	T	A	17: 9,161,824 (GRCm39)	W220R	probably benign	Het
Recql5	T	C	11: 115,819,198 (GRCm39)	T123A	possibly damaging	Het
Rpl28	T	C	7: 4,796,602 (GRCm39)	V61A	probably benign	Het
Secisbp2l	A	T	2: 125,599,191 (GRCm39)	M494K	probably damaging	Het
Sh3bgr	G	A	16: 96,007,035 (GRCm39)	E2K	unknown	Het
Shcbp1l	C	A	1: 153,300,986 (GRCm39)	T6K	probably benign	Het
Slc22a15	A	C	3: 101,785,213 (GRCm39)	L353R	possibly damaging	Het
Sqle	T	C	15: 59,189,658 (GRCm39)	I100T	probably benign	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tll1	A	T	8: 64,504,391 (GRCm39)	N668K	probably damaging	Het
Tm7sf2	A	G	19: 6,116,676 (GRCm39)	S118P	probably benign	Het
Tmco5	G	T	2: 116,717,226 (GRCm39)	V169L	probably benign	Het
Trpv1	A	G	11: 73,131,499 (GRCm39)	K346E	probably damaging	Het
Ttk	G	A	9: 83,736,930 (GRCm39)	R463H	probably benign	Het
Vmn2r120	G	T	17: 57,816,406 (GRCm39)	L650I	probably benign	Het
Vmn2r58	C	T	7: 41,487,212 (GRCm39)	C561Y	probably damaging	Het
Vmn2r-ps117	A	T	17: 19,044,948 (GRCm39)	Q455L	probably benign	Het
Zfr	T	A	15: 12,140,645 (GRCm39)	S231T	unknown	Het

Other mutations in Mmel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Mmel1	APN	4	154,972,289 (GRCm39)	splice site	probably benign
IGL01560:Mmel1	APN	4	154,976,967 (GRCm39)	missense	probably null	1.00
IGL01734:Mmel1	APN	4	154,976,408 (GRCm39)	missense	probably benign	0.00
IGL02933:Mmel1	APN	4	154,968,087 (GRCm39)	missense	probably damaging	1.00
IGL03178:Mmel1	APN	4	154,975,311 (GRCm39)	missense	possibly damaging	0.75
R1161:Mmel1	UTSW	4	154,979,671 (GRCm39)	missense	probably damaging	1.00
R1522:Mmel1	UTSW	4	154,979,443 (GRCm39)	missense	probably damaging	1.00
R1566:Mmel1	UTSW	4	154,968,110 (GRCm39)	missense	probably damaging	1.00
R1885:Mmel1	UTSW	4	154,975,333 (GRCm39)	missense	possibly damaging	0.76
R2177:Mmel1	UTSW	4	154,978,560 (GRCm39)	missense	probably damaging	1.00
R3413:Mmel1	UTSW	4	154,974,043 (GRCm39)	missense	probably damaging	1.00
R3432:Mmel1	UTSW	4	154,969,955 (GRCm39)	splice site	probably benign
R3870:Mmel1	UTSW	4	154,968,095 (GRCm39)	missense	probably benign	0.01
R4197:Mmel1	UTSW	4	154,977,761 (GRCm39)	missense	probably damaging	1.00
R4822:Mmel1	UTSW	4	154,972,354 (GRCm39)	missense	probably benign	0.00
R4998:Mmel1	UTSW	4	154,969,967 (GRCm39)	missense	probably benign	0.00
R5135:Mmel1	UTSW	4	154,966,781 (GRCm39)	missense	probably benign	0.20
R5225:Mmel1	UTSW	4	154,976,456 (GRCm39)	missense	probably damaging	0.96
R5821:Mmel1	UTSW	4	154,970,044 (GRCm39)	missense	possibly damaging	0.82
R6131:Mmel1	UTSW	4	154,979,475 (GRCm39)	missense	probably damaging	1.00
R6132:Mmel1	UTSW	4	154,979,475 (GRCm39)	missense	probably damaging	1.00
R6133:Mmel1	UTSW	4	154,979,475 (GRCm39)	missense	probably damaging	1.00
R6194:Mmel1	UTSW	4	154,967,673 (GRCm39)	nonsense	probably null
R6223:Mmel1	UTSW	4	154,956,159 (GRCm39)	splice site	probably null
R6786:Mmel1	UTSW	4	154,976,885 (GRCm39)	nonsense	probably null
R6921:Mmel1	UTSW	4	154,966,134 (GRCm39)	missense	probably damaging	0.97
R7272:Mmel1	UTSW	4	154,978,547 (GRCm39)	missense	probably damaging	1.00
R7685:Mmel1	UTSW	4	154,956,111 (GRCm39)	start codon destroyed	probably null	0.28
R7996:Mmel1	UTSW	4	154,976,912 (GRCm39)	missense	probably benign	0.03
R8683:Mmel1	UTSW	4	154,973,985 (GRCm39)	missense	probably benign	0.13
R8856:Mmel1	UTSW	4	154,969,478 (GRCm39)	missense	possibly damaging	0.84
R8924:Mmel1	UTSW	4	154,974,091 (GRCm39)	missense	probably damaging	1.00
R9364:Mmel1	UTSW	4	154,976,967 (GRCm39)	missense	probably null	1.00
R9594:Mmel1	UTSW	4	154,978,592 (GRCm39)	missense	probably benign	0.15
R9683:Mmel1	UTSW	4	154,977,285 (GRCm39)	missense	probably damaging	1.00
X0025:Mmel1	UTSW	4	154,979,142 (GRCm39)	missense	probably benign	0.06
Z1176:Mmel1	UTSW	4	154,979,665 (GRCm39)	nonsense	probably null
Z1177:Mmel1	UTSW	4	154,978,531 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

Posted On

2019-09-13