Incidental Mutation 'R6132:Mmel1'
ID 487170
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 044279-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R6132 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 154954042-154979985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 154979475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 728 (H728Y)
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: H728Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078252
Gene: ENSMUSG00000058183
AA Change: H728Y

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: H742Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079399
Gene: ENSMUSG00000058183
AA Change: H742Y

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: H742Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101259
Gene: ENSMUSG00000058183
AA Change: H742Y

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: H705Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101260
Gene: ENSMUSG00000058183
AA Change: H705Y

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: H728Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131753
Gene: ENSMUSG00000058183
AA Change: H728Y

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 0.7652 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null 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
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
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'- GACCTGTTGGCCTCCATATC -3'
(R):5'- ATAGCTCAGCCTTGGCTACCAG -3'

Sequencing Primer
(F):5'- CCTCATCTTACAAACAGCTGTTTAGG -3'
(R):5'- TTGGCTACCAGATGCGACATC -3'
Posted On 2017-10-10