Incidental Mutation 'R6194:Mmel1'
| ID |
502778 |
| 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 |
044334-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R6194 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
154954042-154979985 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 154967673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 99
(C99*)
|
| 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 null
Transcript: ENSMUST00000079269
AA Change: C99*
|
| SMART Domains |
Protein: ENSMUSP00000078252
Gene: ENSMUSG00000058183
AA Change: C99*
| 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 null
Transcript: ENSMUST00000080559
AA Change: C76*
|
| SMART Domains |
Protein: ENSMUSP00000079399
Gene: ENSMUSG00000058183
AA Change: C76*
| 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 null
Transcript: ENSMUST00000105634
AA Change: C76*
|
| SMART Domains |
Protein: ENSMUSP00000101259
Gene: ENSMUSG00000058183
AA Change: C76*
| 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 null
Transcript: ENSMUST00000105635
AA Change: C76*
|
| SMART Domains |
Protein: ENSMUSP00000101260
Gene: ENSMUSG00000058183
AA Change: C76*
| 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 null
Transcript: ENSMUST00000131758
AA Change: C8*
|
| SMART Domains |
Protein: ENSMUSP00000121243
Gene: ENSMUSG00000058183
AA Change: C8*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M13_N
|
8 |
150 |
2.8e-47 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163732
AA Change: C99*
|
| SMART Domains |
Protein: ENSMUSP00000131753
Gene: ENSMUSG00000058183
AA Change: C99*
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031410I06Rik |
T |
C |
5: 26,309,033 (GRCm39) |
I90V |
probably benign |
Het |
| Afap1l2 |
T |
A |
19: 56,911,383 (GRCm39) |
R370S |
probably damaging |
Het |
| Alcam |
A |
G |
16: 52,088,761 (GRCm39) |
Y537H |
probably damaging |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Asap1 |
A |
G |
15: 64,001,058 (GRCm39) |
S508P |
probably damaging |
Het |
| Atg5 |
T |
C |
10: 44,170,612 (GRCm39) |
L86P |
probably damaging |
Het |
| Atp13a5 |
G |
A |
16: 29,127,057 (GRCm39) |
P502S |
probably damaging |
Het |
| AW209491 |
T |
A |
13: 14,811,705 (GRCm39) |
I186K |
possibly damaging |
Het |
| Baz1b |
T |
C |
5: 135,272,744 (GRCm39) |
Y1354H |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,127,926 (GRCm39) |
S1157T |
unknown |
Het |
| Chil6 |
A |
G |
3: 106,312,192 (GRCm39) |
|
probably null |
Het |
| Chrna1 |
A |
G |
2: 73,400,816 (GRCm39) |
V238A |
probably benign |
Het |
| Cluap1 |
A |
G |
16: 3,747,770 (GRCm39) |
S308G |
probably benign |
Het |
| Cntnap4 |
A |
G |
8: 113,602,061 (GRCm39) |
D1155G |
probably damaging |
Het |
| Cptp |
A |
G |
4: 155,951,098 (GRCm39) |
F123L |
probably damaging |
Het |
| Elapor1 |
T |
C |
3: 108,373,095 (GRCm39) |
I600V |
probably benign |
Het |
| Fbxw2 |
G |
A |
2: 34,697,416 (GRCm39) |
T317I |
probably damaging |
Het |
| Gc |
A |
T |
5: 89,589,438 (GRCm39) |
V197E |
probably benign |
Het |
| Gusb |
C |
T |
5: 130,018,906 (GRCm39) |
V577M |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,795,228 (GRCm39) |
N2400K |
probably damaging |
Het |
| Hnrnph1 |
T |
A |
11: 50,274,104 (GRCm39) |
D340E |
possibly damaging |
Het |
| Hs3st1 |
C |
A |
5: 39,771,748 (GRCm39) |
K298N |
probably damaging |
Het |
| Hunk |
A |
T |
16: 90,293,283 (GRCm39) |
T522S |
probably damaging |
Het |
| Ifit3 |
T |
C |
19: 34,565,027 (GRCm39) |
F191S |
probably benign |
Het |
| Ifnab |
T |
A |
4: 88,609,362 (GRCm39) |
K35* |
probably null |
Het |
| Ifnab |
G |
T |
4: 88,609,363 (GRCm39) |
N34K |
probably damaging |
Het |
| Ighmbp2 |
C |
A |
19: 3,312,003 (GRCm39) |
R917L |
possibly damaging |
Het |
| Igkv13-84 |
C |
T |
6: 68,916,916 (GRCm39) |
A71V |
possibly damaging |
Het |
| Irag1 |
T |
C |
7: 110,498,901 (GRCm39) |
N377D |
probably damaging |
Het |
| Lim2 |
T |
A |
7: 43,085,086 (GRCm39) |
C159S |
probably damaging |
Het |
| Lrrc56 |
T |
C |
7: 140,785,564 (GRCm39) |
Y147H |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,212,698 (GRCm39) |
L621P |
probably damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Mboat2 |
T |
A |
12: 24,996,637 (GRCm39) |
S213R |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,777,033 (GRCm39) |
I1144V |
probably benign |
Het |
| Naa15 |
A |
G |
3: 51,370,721 (GRCm39) |
T612A |
probably benign |
Het |
| Naalad2 |
C |
T |
9: 18,262,443 (GRCm39) |
V362I |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,296,643 (GRCm39) |
I1178F |
possibly damaging |
Het |
| Nras |
C |
A |
3: 102,966,269 (GRCm39) |
A11E |
probably damaging |
Het |
| Or13f5 |
T |
A |
4: 52,825,779 (GRCm39) |
C127* |
probably null |
Het |
| Or56a3b |
G |
T |
7: 104,771,377 (GRCm39) |
V238L |
probably benign |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,199 (GRCm39) |
T112A |
probably damaging |
Het |
| Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,625,624 (GRCm39) |
*519Q |
probably null |
Het |
| Prodh |
A |
T |
16: 17,890,381 (GRCm39) |
H515Q |
probably benign |
Het |
| Rbfox2 |
T |
C |
15: 76,968,357 (GRCm39) |
T435A |
possibly damaging |
Het |
| Rbks |
T |
C |
5: 31,824,234 (GRCm39) |
E87G |
probably benign |
Het |
| Scyl1 |
G |
T |
19: 5,820,334 (GRCm39) |
Q167K |
possibly damaging |
Het |
| Serpina3i |
T |
A |
12: 104,232,762 (GRCm39) |
D222E |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,638,172 (GRCm39) |
C199* |
probably null |
Het |
| Slx1b |
C |
T |
7: 126,291,503 (GRCm39) |
R187H |
possibly damaging |
Het |
| Stxbp5 |
A |
G |
10: 9,693,083 (GRCm39) |
F348L |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tfpt |
A |
T |
7: 3,632,026 (GRCm39) |
L28Q |
probably damaging |
Het |
| Trap1 |
G |
A |
16: 3,872,664 (GRCm39) |
T335M |
possibly damaging |
Het |
| Zcchc2 |
T |
A |
1: 105,918,847 (GRCm39) |
F110I |
probably damaging |
Het |
| Zfp345 |
A |
T |
2: 150,314,551 (GRCm39) |
C329S |
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 |
|
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 |
|
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'- TCATGAGCAGATCAGTAGCTG -3'
(R):5'- ACCCTGCTGACCAAGATGTTG -3'
Sequencing Primer
(F):5'- CTGCCAGCGAGCTGATAGTTG -3'
(R):5'- CAAGATGTTGGGCAGGAGC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation