Mutagenetix > Incidental Mutation

Incidental Mutation 'R4822:Mmel1'

371197

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

042438-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R4822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154954042-154979985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154972354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 302 (M302V)

Ref Sequence

ENSEMBL: ENSMUSP00000079399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079269] [ENSMUST00000080559] [ENSMUST00000105634] [ENSMUST00000105635] [ENSMUST00000131758] [ENSMUST00000163732]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000079269
AA Change: M325V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078252
Gene: ENSMUSG00000058183
AA Change: M325V

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Peptidase_M13_N	99	498	1.7e-135	PFAM
Pfam:Peptidase_M13	559	767	1.2e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080559
AA Change: M302V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000079399
Gene: ENSMUSG00000058183
AA Change: M302V

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Peptidase_M13_N	76	512	4.8e-131	PFAM
Pfam:Peptidase_M13	573	779	3.4e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105634
AA Change: M302V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101259
Gene: ENSMUSG00000058183
AA Change: M302V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105635
AA Change: M302V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101260
Gene: ENSMUSG00000058183
AA Change: M302V

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Peptidase_M13_N	76	475	1.6e-135	PFAM
Pfam:Peptidase_M13	536	744	1.2e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129623

Predicted Effect

probably benign
Transcript: ENSMUST00000131758

SMART Domains

Protein: ENSMUSP00000121243
Gene: ENSMUSG00000058183

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M13_N	8	150	2.8e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163732
AA Change: M325V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131753
Gene: ENSMUSG00000058183
AA Change: M325V

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Peptidase_M13_N	99	498	1.7e-135	PFAM
Pfam:Peptidase_M13	559	765	3.3e-71	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (101/103)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	C	T	14: 70,393,907 (GRCm39)	V243I	probably benign	Het
Acadvl	C	T	11: 69,902,010 (GRCm39)	G485S	probably benign	Het
Acap3	T	A	4: 155,986,908 (GRCm39)		probably benign	Het
Adamts19	A	G	18: 59,023,356 (GRCm39)	I250M	probably damaging	Het
Amacr	T	A	15: 10,983,496 (GRCm39)	I102N	probably damaging	Het
Apob	A	G	12: 8,065,741 (GRCm39)	T4237A	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bicd1	A	T	6: 149,420,752 (GRCm39)		probably benign	Het
Caskin2	T	A	11: 115,698,125 (GRCm39)	E49V	probably damaging	Het
Cemip	T	A	7: 83,622,449 (GRCm39)	I577F	probably benign	Het
Chrnb1	T	C	11: 69,686,501 (GRCm39)	S40G	possibly damaging	Het
Ctif	C	T	18: 75,654,632 (GRCm39)	C298Y	probably benign	Het
Cul9	A	C	17: 46,840,977 (GRCm39)	H764Q	probably benign	Het
Cwf19l2	T	A	9: 3,458,839 (GRCm39)	C763S	probably damaging	Het
Dhx57	A	T	17: 80,549,596 (GRCm39)		probably null	Het
Dnaaf10	T	A	11: 17,177,165 (GRCm39)	N174K	probably damaging	Het
Dnhd1	G	A	7: 105,353,171 (GRCm39)	D2775N	probably benign	Het
Enpp1	A	T	10: 24,537,833 (GRCm39)	M384K	possibly damaging	Het
Fat2	T	C	11: 55,202,144 (GRCm39)	N310S	probably benign	Het
Fbxw7	A	T	3: 84,874,814 (GRCm39)	Y232F	possibly damaging	Het
Fcamr	T	A	1: 130,740,423 (GRCm39)	S281T	possibly damaging	Het
Gm10762	C	T	2: 128,809,106 (GRCm39)	W81*	probably null	Het
Gm5592	A	G	7: 40,805,314 (GRCm39)		probably benign	Het
Gm5745	T	C	9: 73,082,980 (GRCm39)		noncoding transcript	Het
Gm6185	G	C	1: 161,040,824 (GRCm39)		noncoding transcript	Het
Hid1	T	A	11: 115,246,125 (GRCm39)	N382Y	probably damaging	Het
Hoxa10	A	T	6: 52,209,569 (GRCm39)	F68I	probably damaging	Het
Ift88	T	A	14: 57,679,326 (GRCm39)		probably null	Het
Ighg2b	A	T	12: 113,270,011 (GRCm39)	*336R	probably null	Het
Ighv7-2	A	C	12: 113,875,892 (GRCm39)	L37R	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnn3	G	C	3: 89,574,596 (GRCm39)	V703L	possibly damaging	Het
Kiz	C	A	2: 146,732,989 (GRCm39)	S388R	probably damaging	Het
Klhl20	G	A	1: 160,921,333 (GRCm39)	Q41*	probably null	Het
Krt31	T	C	11: 99,938,610 (GRCm39)	I328V	possibly damaging	Het
Lama4	A	T	10: 38,909,049 (GRCm39)	I330L	probably benign	Het
Lipo2	A	T	19: 33,723,151 (GRCm39)	S213T	probably benign	Het
Lrsam1	A	T	2: 32,816,804 (GRCm39)	I723N	probably damaging	Het
Man2b2	G	A	5: 36,972,865 (GRCm39)	R550W	probably damaging	Het
Map4k5	A	T	12: 69,888,758 (GRCm39)	L224*	probably null	Het
Mast3	A	G	8: 71,233,010 (GRCm39)	S1101P	probably damaging	Het
Mertk	A	G	2: 128,643,225 (GRCm39)	S875G	probably benign	Het
Mrgpra3	T	A	7: 47,239,716 (GRCm39)	H70L	possibly damaging	Het
Myh3	T	A	11: 66,979,836 (GRCm39)	S592T	probably benign	Het
Nbeal2	T	C	9: 110,465,383 (GRCm39)	I451V	possibly damaging	Het
Nup155	T	A	15: 8,158,010 (GRCm39)	V489D	possibly damaging	Het
Obscn	T	A	11: 58,913,159 (GRCm39)	T6300S	probably benign	Het
Oprm1	A	G	10: 6,779,036 (GRCm39)	I146V	probably damaging	Het
Or1ad1	T	A	11: 50,875,910 (GRCm39)	C127*	probably null	Het
Or1j4	A	G	2: 36,740,888 (GRCm39)	M277V	probably benign	Het
Or4k44	G	T	2: 111,367,797 (GRCm39)	T279K	probably damaging	Het
Or5ae1	A	C	7: 84,565,634 (GRCm39)	I216L	possibly damaging	Het
Otub1	A	T	19: 7,181,794 (GRCm39)	D27E	probably damaging	Het
Pik3ca	T	C	3: 32,492,131 (GRCm39)	V243A	probably benign	Het
Pla2g12b	G	A	10: 59,252,336 (GRCm39)		probably null	Het
Plekha8	A	G	6: 54,601,546 (GRCm39)	D321G	probably damaging	Het
Pprc1	T	C	19: 46,059,795 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,468,576 (GRCm39)	D129G	possibly damaging	Het
Rbms3	C	T	9: 116,773,441 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,821,161 (GRCm39)	V1495D	probably benign	Het
Rpl31-ps21	T	C	5: 21,324,507 (GRCm39)		noncoding transcript	Het
Ryr3	A	T	2: 112,483,090 (GRCm39)	I4219N	probably damaging	Het
Sbf2	G	A	7: 109,977,146 (GRCm39)		probably benign	Het
Scn10a	C	T	9: 119,467,738 (GRCm39)	A801T	probably damaging	Het
Scn9a	T	A	2: 66,314,093 (GRCm39)	Y1866F	possibly damaging	Het
Sec1	A	C	7: 45,328,727 (GRCm39)	Y107D	probably damaging	Het
Sema6d	C	T	2: 124,504,214 (GRCm39)	T619M	possibly damaging	Het
Sh2b3	C	A	5: 121,966,618 (GRCm39)		probably benign	Het
Slc2a4	A	G	11: 69,837,413 (GRCm39)	V44A	probably damaging	Het
Slc5a12	T	C	2: 110,452,085 (GRCm39)	I326T	possibly damaging	Het
Smarca5	T	C	8: 81,435,309 (GRCm39)		probably null	Het
Smarcd2	A	G	11: 106,157,357 (GRCm39)		probably null	Het
Snrpa1	A	T	7: 65,719,321 (GRCm39)		probably benign	Het
Sptbn5	T	G	2: 119,898,449 (GRCm39)	K470Q	probably benign	Het
Stard9	T	G	2: 120,526,422 (GRCm39)	V893G	possibly damaging	Het
Stx8	T	G	11: 67,864,099 (GRCm39)	V53G	possibly damaging	Het
Sv2c	A	T	13: 96,122,457 (GRCm39)	W440R	probably damaging	Het
Tcstv2a	A	T	13: 120,725,686 (GRCm39)	T117S	probably damaging	Het
Tmem181a	A	T	17: 6,330,940 (GRCm39)	I67F	probably benign	Het
Tmprss7	C	T	16: 45,483,679 (GRCm39)	C565Y	probably damaging	Het
Trafd1	A	T	5: 121,516,561 (GRCm39)	L109H	probably damaging	Het
Trpv4	A	G	5: 114,768,083 (GRCm39)	I422T	possibly damaging	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Vmn1r236	A	T	17: 21,507,202 (GRCm39)	N107Y	probably damaging	Het
Vmn2r13	A	T	5: 109,321,938 (GRCm39)	I253K	probably damaging	Het
Vmn2r2	T	A	3: 64,041,960 (GRCm39)	I252F	probably damaging	Het
Vsig8	A	G	1: 172,387,205 (GRCm39)	D27G	probably damaging	Het
Wiz	A	T	17: 32,575,411 (GRCm39)	Y908*	probably null	Het
Wnk1	A	T	6: 119,939,399 (GRCm39)	S1113T	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp691	G	T	4: 119,027,764 (GRCm39)	T156K	probably damaging	Het
Zfp791	A	T	8: 85,837,035 (GRCm39)	D276E	probably benign	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
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
R7373:Mmel1	UTSW	4	154,973,665 (GRCm39)	missense	not run
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

PCR Primer
(F):5'- TTAGGAAAGACCAGAACCTGTCC -3'
(R):5'- GAGCAACAATGGCTGCTCTG -3'

Sequencing Primer
(F):5'- TGTCCAAGGAGAGCGCCATG -3'
(R):5'- CAATGGCTGCTCTGCTGGG -3'

Posted On

2016-03-01