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)
|
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
Domain | Start | End | E-Value | Type |
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
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 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
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 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
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 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
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: 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
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129623
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132281
|
SMART Domains |
Protein: ENSMUSP00000116611 Gene: ENSMUSG00000029059
Domain | Start | End | E-Value | Type |
Pfam:AhpC-TSA_2
|
9 |
114 |
4.2e-25 |
PFAM |
|
Meta Mutation Damage Score |
0.8327 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |