Mutagenetix > Incidental Mutation

Incidental Mutation 'R5135:Mmel1'

396115

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

043261-MU

Accession Numbers

Essential gene?

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

Stock #

R5135 (G1)

Quality Score

115

Status

Not validated

Chromosome

Chromosomal Location

154954042-154979985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154966781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 83 (I83K)

Ref Sequence

ENSEMBL: ENSMUSP00000131753 (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: I83K

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000078252
Gene: ENSMUSG00000058183
AA Change: I83K

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: I60K

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000079399
Gene: ENSMUSG00000058183
AA Change: I60K

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: I60K

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101259
Gene: ENSMUSG00000058183
AA Change: I60K

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: I60K

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101260
Gene: ENSMUSG00000058183
AA Change: I60K

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

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: I83K

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131753
Gene: ENSMUSG00000058183
AA Change: I83K

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (82/84)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	C	1: 183,765,703 (GRCm39)	S119G	probably benign	Het
4930553M12Rik	G	T	4: 88,786,508 (GRCm39)	H37N	unknown	Het
Adam10	T	A	9: 70,673,356 (GRCm39)	C496S	probably damaging	Het
Aldh18a1	A	C	19: 40,543,261 (GRCm39)		probably benign	Het
Alox5	A	G	6: 116,390,747 (GRCm39)	F468S	probably benign	Het
Ankrd50	T	C	3: 38,509,952 (GRCm39)	H805R	probably damaging	Het
Ap2s1	T	A	7: 16,481,248 (GRCm39)	D72E	probably damaging	Het
Apaf1	T	C	10: 90,895,956 (GRCm39)	Y372C	probably damaging	Het
Apob	C	T	12: 8,060,086 (GRCm39)	T2823I	probably damaging	Het
Bhmt	A	G	13: 93,763,831 (GRCm39)	V70A	probably damaging	Het
Bltp3b	T	C	10: 89,625,217 (GRCm39)	I48T	probably damaging	Het
Cdc42bpg	T	A	19: 6,370,648 (GRCm39)	L1247H	probably damaging	Het
Cel	A	G	2: 28,449,435 (GRCm39)	V264A	probably benign	Het
Celsr2	T	C	3: 108,305,975 (GRCm39)	N2043S	probably damaging	Het
Clca4a	A	T	3: 144,660,707 (GRCm39)	W706R	probably damaging	Het
Col22a1	G	T	15: 71,671,186 (GRCm39)	P1058Q	unknown	Het
Cyp4a14	A	G	4: 115,347,157 (GRCm39)		probably null	Het
Dhx30	T	G	9: 109,927,863 (GRCm39)	R55S	probably damaging	Het
Dlgap5	C	T	14: 47,637,122 (GRCm39)	R452H	probably damaging	Het
Dnah12	T	A	14: 26,492,434 (GRCm39)	D1191E	probably damaging	Het
Dock3	A	T	9: 106,810,196 (GRCm39)	I164N	probably damaging	Het
Edrf1	T	A	7: 133,252,773 (GRCm39)	M436K	probably benign	Het
Eif2ak2	T	A	17: 79,173,774 (GRCm39)	Y268F	probably damaging	Het
Evi2a	G	A	11: 79,418,277 (GRCm39)	T111M	possibly damaging	Het
Fzd4	A	G	7: 89,056,709 (GRCm39)	E252G	probably damaging	Het
Gcm2	A	G	13: 41,256,435 (GRCm39)	V438A	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm4846	T	C	1: 166,311,551 (GRCm39)	D436G	probably damaging	Het
Gm5414	T	A	15: 101,536,203 (GRCm39)	I141F	probably damaging	Het
Gm6185	T	A	1: 161,025,801 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,750,897 (GRCm39)	E776G	possibly damaging	Het
H2-Ob	T	A	17: 34,462,490 (GRCm39)	V160E	probably benign	Het
Hormad1	T	C	3: 95,492,531 (GRCm39)		probably benign	Het
Ighv2-1	A	T	12: 113,538,082 (GRCm39)		probably benign	Het
Igkv4-92	A	T	6: 68,732,538 (GRCm39)	C14S	probably benign	Het
Iqsec3	T	C	6: 121,360,878 (GRCm39)	I993M	probably damaging	Het
Kdm5b	T	A	1: 134,516,484 (GRCm39)		probably benign	Het
Kitl	T	C	10: 99,924,084 (GRCm39)		probably null	Het
Klhl26	G	T	8: 70,905,368 (GRCm39)	R100S	probably benign	Het
Kpna4	C	T	3: 69,000,142 (GRCm39)		probably null	Het
Lama5	T	A	2: 179,844,013 (GRCm39)	N383Y	possibly damaging	Het
Large1	T	G	8: 73,544,724 (GRCm39)	I685L	probably benign	Het
Larp4b	A	G	13: 9,220,773 (GRCm39)	E590G	probably damaging	Het
Liph	A	T	16: 21,774,915 (GRCm39)	C425*	probably null	Het
Lrrc31	A	T	3: 30,739,039 (GRCm39)	C327*	probably null	Het
Lrrc36	T	C	8: 106,190,530 (GRCm39)	V733A	probably benign	Het
Myo16	G	T	8: 10,526,114 (GRCm39)	V885L	probably benign	Het
Naip2	A	T	13: 100,315,948 (GRCm39)	N277K	probably damaging	Het
Ncapg2	T	A	12: 116,391,406 (GRCm39)	I485N	possibly damaging	Het
Npc1l1	A	T	11: 6,174,245 (GRCm39)	Y687N	possibly damaging	Het
Obscn	A	T	11: 59,020,479 (GRCm39)	V922E	probably damaging	Het
Oc90	A	G	15: 65,755,679 (GRCm39)	S223P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4a80	A	T	2: 89,582,239 (GRCm39)	L311H	possibly damaging	Het
Or4e1	T	C	14: 52,701,311 (GRCm39)	I52V	probably benign	Het
Pakap	G	T	4: 57,855,912 (GRCm39)	A414S	probably benign	Het
Pdlim5	C	T	3: 142,010,126 (GRCm39)	R174H	probably benign	Het
Pex5l	G	T	3: 33,009,980 (GRCm39)	A386E	probably damaging	Het
Plcxd1	T	A	5: 110,249,229 (GRCm39)		probably benign	Het
Pramel12	T	G	4: 143,145,579 (GRCm39)	S349R	probably benign	Het
Prl8a1	A	T	13: 27,763,802 (GRCm39)		probably null	Het
Ryr2	G	T	13: 11,677,016 (GRCm39)	N3278K	probably benign	Het
Sacm1l	A	G	9: 123,406,090 (GRCm39)	M324V	probably benign	Het
Sdad1	T	C	5: 92,451,793 (GRCm39)	T143A	probably benign	Het
Sec11a	A	T	7: 80,572,812 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,424,239 (GRCm39)	V223A	probably damaging	Het
Serpinb6c	A	G	13: 34,064,080 (GRCm39)	V325A	probably damaging	Het
Slc4a2	G	A	5: 24,635,125 (GRCm39)	A177T	possibly damaging	Het
Slc5a4a	A	G	10: 75,983,428 (GRCm39)	N22D	unknown	Het
Stard13	C	T	5: 150,986,232 (GRCm39)	W308*	probably null	Het
Tanc2	C	T	11: 105,748,379 (GRCm39)	L504F	possibly damaging	Het
Tfap2e	G	T	4: 126,614,337 (GRCm39)	N282K	probably damaging	Het
Usp36	G	T	11: 118,155,731 (GRCm39)	T682K	possibly damaging	Het
Zc3h11a	T	C	1: 133,561,527 (GRCm39)	T315A	probably benign	Het
Zfa-ps	T	A	10: 52,419,118 (GRCm39)		noncoding transcript	Het
Zfp1002	A	T	2: 150,097,410 (GRCm39)	Y34*	probably null	Het
Zfp663	A	T	2: 165,195,590 (GRCm39)	C210S	possibly damaging	Het
Zfp747	T	C	7: 126,973,566 (GRCm39)	I201M	probably damaging	Het
Zic4	C	T	9: 91,266,205 (GRCm39)	T276M	probably damaging	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
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'- ACCTATCTTGGAGGTGTCGATG -3'
(R):5'- AAGCATCACTGTGGGACTCC -3'

Sequencing Primer
(F):5'- TGGGAAAAATAGAGGCCCTCCC -3'
(R):5'- AAATCTCAGCTTGGCTTC -3'

Posted On

2016-06-21