Incidental Mutation 'IGL00971:Mmel1'
| ID |
27331 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mmel1
|
| Ensembl Gene |
ENSMUSG00000058183 |
| Gene Name |
membrane metallo-endopeptidase-like 1 |
| Synonyms |
NEPLP alpha, NEPLP beta, Mell1, SEP, Nep2, Nl1, NEPLP gamma |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
IGL00971
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
154954042-154979985 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 154972289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000078252
Gene: ENSMUSG00000058183
| 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
|
| SMART Domains |
Protein: ENSMUSP00000079399
Gene: ENSMUSG00000058183
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101259
Gene: ENSMUSG00000058183
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101260
Gene: ENSMUSG00000058183
| 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
|
| SMART Domains |
Protein: ENSMUSP00000131753
Gene: ENSMUSG00000058183
| 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 |
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
C |
T |
14: 35,532,170 (GRCm39) |
C135Y |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,072,575 (GRCm39) |
|
probably benign |
Het |
| Akap10 |
A |
G |
11: 61,795,622 (GRCm39) |
V347A |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,622,092 (GRCm39) |
S587P |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,029,660 (GRCm39) |
Y524C |
probably damaging |
Het |
| Cimip2b |
A |
G |
4: 43,428,377 (GRCm39) |
L51P |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,283,219 (GRCm39) |
N3573S |
possibly damaging |
Het |
| Cyp1a1 |
G |
T |
9: 57,607,990 (GRCm39) |
C206F |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,042 (GRCm39) |
Y255H |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,731,230 (GRCm39) |
I295V |
possibly damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,370,743 (GRCm39) |
Y932H |
unknown |
Het |
| Gvin-ps3 |
G |
A |
7: 105,681,008 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr6 |
C |
T |
11: 83,650,135 (GRCm39) |
P197L |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,930,168 (GRCm39) |
D737G |
possibly damaging |
Het |
| Helz |
A |
T |
11: 107,554,479 (GRCm39) |
I1226F |
possibly damaging |
Het |
| Ipo11 |
A |
T |
13: 106,993,277 (GRCm39) |
I749N |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,771,564 (GRCm39) |
E2G |
possibly damaging |
Het |
| Jam3 |
A |
C |
9: 27,013,188 (GRCm39) |
D127E |
probably damaging |
Het |
| Kif16b |
G |
T |
2: 142,553,664 (GRCm39) |
Q1045K |
probably benign |
Het |
| Kin |
T |
C |
2: 10,095,159 (GRCm39) |
W121R |
possibly damaging |
Het |
| Man1b1 |
T |
G |
2: 25,233,337 (GRCm39) |
S237A |
possibly damaging |
Het |
| Morn4 |
T |
C |
19: 42,064,559 (GRCm39) |
N143S |
possibly damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,448,882 (GRCm39) |
T362A |
possibly damaging |
Het |
| Ntpcr |
C |
T |
8: 126,474,501 (GRCm39) |
T153M |
probably damaging |
Het |
| Or13p10 |
T |
A |
4: 118,523,475 (GRCm39) |
F254I |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,374,804 (GRCm39) |
L1777P |
probably benign |
Het |
| Postn |
A |
G |
3: 54,276,697 (GRCm39) |
N192S |
possibly damaging |
Het |
| Prkar1a |
A |
T |
11: 109,551,877 (GRCm39) |
Y122F |
probably benign |
Het |
| Serpinb7 |
A |
G |
1: 107,355,976 (GRCm39) |
|
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,126,496 (GRCm39) |
I121N |
probably damaging |
Het |
| Slamf7 |
T |
A |
1: 171,466,810 (GRCm39) |
I132L |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,580,227 (GRCm39) |
|
probably benign |
Het |
| Tesc |
G |
A |
5: 118,194,504 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
C |
A |
2: 28,560,952 (GRCm39) |
S270* |
probably null |
Het |
| Wap |
C |
A |
11: 6,586,808 (GRCm39) |
C97F |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,822,234 (GRCm39) |
S155P |
probably benign |
Het |
| Zfp469 |
A |
G |
8: 122,996,472 (GRCm39) |
|
probably benign |
Het |
| Zfp51 |
C |
T |
17: 21,683,844 (GRCm39) |
T153M |
probably benign |
Het |
| Zfp579 |
A |
G |
7: 4,996,390 (GRCm39) |
I507T |
probably damaging |
Het |
|
| Other mutations in Mmel1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation