Incidental Mutation 'R4197:Mmel1'
ID 318589
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 041028-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R4197 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 154954042-154979985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154977761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 594 (I594T)
Ref Sequence ENSEMBL: ENSMUSP00000131753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030935] [ENSMUST00000079269] [ENSMUST00000080559] [ENSMUST00000105634] [ENSMUST00000105635] [ENSMUST00000163732] [ENSMUST00000132281]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030935
SMART Domains Protein: ENSMUSP00000030935
Gene: ENSMUSG00000029059

DomainStartEndE-ValueType
Pfam:AhpC-TSA_2 53 166 9.9e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079269
AA Change: I594T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078252
Gene: ENSMUSG00000058183
AA Change: I594T

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000080559
AA Change: I608T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079399
Gene: ENSMUSG00000058183
AA Change: I608T

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000105634
AA Change: I608T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101259
Gene: ENSMUSG00000058183
AA Change: I608T

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000105635
AA Change: I571T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101260
Gene: ENSMUSG00000058183
AA Change: I571T

DomainStartEndE-ValueType
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: ENSMUST00000123513
Predicted Effect probably damaging
Transcript: ENSMUST00000163732
AA Change: I594T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131753
Gene: ENSMUSG00000058183
AA Change: I594T

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129623
Predicted Effect probably benign
Transcript: ENSMUST00000132281
SMART Domains Protein: ENSMUSP00000116611
Gene: ENSMUSG00000029059

DomainStartEndE-ValueType
Pfam:AhpC-TSA_2 9 114 4.2e-25 PFAM
Meta Mutation Damage Score 0.8327 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (42/42)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccno G A 13: 113,125,603 (GRCm39) C189Y probably damaging Het
Cd36 T A 5: 18,018,086 (GRCm39) D209V probably damaging Het
Depdc5 T A 5: 33,148,547 (GRCm39) L1561Q possibly damaging Het
Dhx34 G T 7: 15,937,651 (GRCm39) H777N probably damaging Het
Dlat T C 9: 50,547,826 (GRCm39) T610A probably damaging Het
Efcab15 G A 11: 103,091,966 (GRCm39) S94L probably benign Het
Fip1l1 T A 5: 74,696,397 (GRCm39) D19E probably damaging Het
Gm5699 T A 1: 31,037,726 (GRCm39) noncoding transcript Het
Grin2a A C 16: 9,579,831 (GRCm39) F144C probably damaging Het
Klhl18 A T 9: 110,259,012 (GRCm39) probably null Het
Klhl31 T C 9: 77,558,091 (GRCm39) V269A probably damaging Het
Lypd10 A G 7: 24,413,119 (GRCm39) D146G probably benign Het
Myo9a T A 9: 59,802,149 (GRCm39) S1913T probably benign Het
Or6a2 T C 7: 106,600,245 (GRCm39) D274G probably damaging Het
Pcdhb14 A G 18: 37,581,358 (GRCm39) K155E probably benign Het
Pdcd10 A T 3: 75,424,899 (GRCm39) N189K possibly damaging Het
Pde3b T G 7: 114,130,107 (GRCm39) probably benign Het
Plxnb2 T C 15: 89,041,221 (GRCm39) N1775S probably damaging Het
Polr2a T C 11: 69,626,162 (GRCm39) S1625G unknown Het
Ptpn21 G T 12: 98,646,397 (GRCm39) H1020Q probably damaging Het
Rad23b C T 4: 55,385,455 (GRCm39) P331S probably damaging Het
Scel A T 14: 103,836,836 (GRCm39) N475Y probably damaging Het
Sema5a A G 15: 32,619,064 (GRCm39) T531A probably benign Het
Sf3b3 A T 8: 111,548,197 (GRCm39) L679Q probably damaging Het
Sipa1l3 A T 7: 29,100,238 (GRCm39) D10E possibly damaging Het
Slc44a4 G A 17: 35,137,228 (GRCm39) V84I probably benign Het
Slco5a1 G T 1: 12,964,740 (GRCm39) S512R probably damaging Het
Sv2c A T 13: 96,114,636 (GRCm39) F517I probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tnfsf11 A T 14: 78,521,752 (GRCm39) D152E probably benign Het
Trav13n-4 C T 14: 53,601,378 (GRCm39) T49I probably benign Het
Ttn T C 2: 76,716,422 (GRCm39) probably benign Het
Usp34 T C 11: 23,394,189 (GRCm39) S2261P probably damaging Het
Vmn2r87 G A 10: 130,315,779 (GRCm39) P96S possibly damaging Het
Xrcc6 A G 15: 81,913,425 (GRCm39) M353V probably benign Het
Other mutations in Mmel1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ATCCAACACTCCTGCTTTGG -3'
(R):5'- AGGCCCTAAGAGTCAATGGG -3'

Sequencing Primer
(F):5'- ACACTCCTGCTTTGGTGTCTGAG -3'
(R):5'- CCCTAAGAGTCAATGGGGCAGC -3'
Posted On 2015-06-10