Incidental Mutation 'R6786:Mmel1'
ID |
532363 |
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 |
044900-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R6786 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
154954042-154979985 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 154976885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 520
(E520*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131753
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030935]
[ENSMUST00000079269]
[ENSMUST00000080559]
[ENSMUST00000105634]
[ENSMUST00000105635]
[ENSMUST00000132281]
[ENSMUST00000163732]
|
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 null
Transcript: ENSMUST00000079269
AA Change: E520*
|
SMART Domains |
Protein: ENSMUSP00000078252 Gene: ENSMUSG00000058183 AA Change: E520*
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: E534*
|
SMART Domains |
Protein: ENSMUSP00000079399 Gene: ENSMUSG00000058183 AA Change: E534*
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: E534*
|
SMART Domains |
Protein: ENSMUSP00000101259 Gene: ENSMUSG00000058183 AA Change: E534*
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: E497*
|
SMART Domains |
Protein: ENSMUSP00000101260 Gene: ENSMUSG00000058183 AA Change: E497*
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 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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000163732
AA Change: E520*
|
SMART Domains |
Protein: ENSMUSP00000131753 Gene: ENSMUSG00000058183 AA Change: E520*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
Validation Efficiency |
96% (66/69) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7a |
C |
A |
4: 56,744,116 (GRCm39) |
Y214* |
probably null |
Het |
Adnp2 |
A |
G |
18: 80,172,960 (GRCm39) |
V483A |
probably benign |
Het |
Aif1 |
C |
T |
17: 35,390,472 (GRCm39) |
V93M |
probably damaging |
Het |
Alpk2 |
A |
G |
18: 65,439,705 (GRCm39) |
S563P |
probably benign |
Het |
Ank2 |
A |
T |
3: 126,752,581 (GRCm39) |
N378K |
probably damaging |
Het |
Ano4 |
C |
T |
10: 88,828,732 (GRCm39) |
|
probably null |
Het |
Asxl3 |
G |
A |
18: 22,658,497 (GRCm39) |
C2169Y |
probably damaging |
Het |
Atp2b1 |
T |
C |
10: 98,852,821 (GRCm39) |
C101R |
probably damaging |
Het |
Bcs1l |
C |
T |
1: 74,629,844 (GRCm39) |
R224C |
probably damaging |
Het |
Car2 |
T |
C |
3: 14,951,710 (GRCm39) |
|
probably benign |
Het |
Cbln1 |
T |
C |
8: 88,198,657 (GRCm39) |
N71S |
probably benign |
Het |
Cdh8 |
T |
A |
8: 99,950,579 (GRCm39) |
T224S |
probably benign |
Het |
Cdin1 |
A |
G |
2: 115,462,462 (GRCm39) |
I65V |
probably benign |
Het |
Cep131 |
G |
A |
11: 119,956,218 (GRCm39) |
R1014W |
probably damaging |
Het |
Cfap61 |
T |
C |
2: 145,887,363 (GRCm39) |
S603P |
possibly damaging |
Het |
Chd8 |
G |
T |
14: 52,464,125 (GRCm39) |
L659I |
probably benign |
Het |
Ckap5 |
G |
A |
2: 91,387,920 (GRCm39) |
G255D |
probably benign |
Het |
Clec18a |
C |
A |
8: 111,807,572 (GRCm39) |
W126L |
probably benign |
Het |
Cux1 |
T |
A |
5: 136,596,085 (GRCm39) |
N4Y |
probably damaging |
Het |
Dgcr8 |
A |
T |
16: 18,101,693 (GRCm39) |
Y196* |
probably null |
Het |
Dnah14 |
A |
T |
1: 181,468,970 (GRCm39) |
I1267F |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,949,529 (GRCm39) |
N438D |
probably benign |
Het |
Dock8 |
A |
T |
19: 25,160,386 (GRCm39) |
H1763L |
possibly damaging |
Het |
Elp1 |
T |
C |
4: 56,771,555 (GRCm39) |
D914G |
possibly damaging |
Het |
Fpr-rs6 |
A |
T |
17: 20,403,100 (GRCm39) |
M87K |
possibly damaging |
Het |
Gabrg1 |
A |
G |
5: 70,911,610 (GRCm39) |
S339P |
probably benign |
Het |
Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
Gm12695 |
A |
G |
4: 96,651,058 (GRCm39) |
S132P |
probably damaging |
Het |
Gm3443 |
T |
A |
19: 21,533,128 (GRCm39) |
C31S |
probably damaging |
Het |
Gzmf |
A |
T |
14: 56,444,452 (GRCm39) |
F40L |
probably benign |
Het |
Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
Lrguk |
A |
G |
6: 34,072,522 (GRCm39) |
E604G |
probably benign |
Het |
Marveld3 |
C |
A |
8: 110,674,732 (GRCm39) |
K361N |
probably benign |
Het |
Mgat4b |
A |
T |
11: 50,121,525 (GRCm39) |
Y47F |
probably damaging |
Het |
Msantd5f6 |
A |
T |
4: 73,321,843 (GRCm39) |
M64K |
possibly damaging |
Het |
Muc21 |
T |
C |
17: 35,934,057 (GRCm39) |
|
probably benign |
Het |
Myod1 |
A |
G |
7: 46,027,741 (GRCm39) |
T294A |
probably benign |
Het |
Nfix |
A |
T |
8: 85,454,276 (GRCm39) |
S219T |
probably damaging |
Het |
Nr4a2 |
A |
G |
2: 57,001,920 (GRCm39) |
F115L |
probably benign |
Het |
Numa1 |
A |
C |
7: 101,641,845 (GRCm39) |
M98L |
probably benign |
Het |
Or5b105 |
T |
C |
19: 13,080,567 (GRCm39) |
I28V |
probably benign |
Het |
P3h1 |
C |
T |
4: 119,095,151 (GRCm39) |
L303F |
possibly damaging |
Het |
Pias4 |
G |
A |
10: 80,993,080 (GRCm39) |
T5I |
probably damaging |
Het |
Pik3ip1 |
A |
G |
11: 3,282,124 (GRCm39) |
N68S |
probably benign |
Het |
Pkdrej |
T |
C |
15: 85,702,850 (GRCm39) |
T1029A |
probably benign |
Het |
Recql |
A |
T |
6: 142,310,278 (GRCm39) |
D517E |
probably benign |
Het |
Sall2 |
G |
T |
14: 52,552,078 (GRCm39) |
H372Q |
probably damaging |
Het |
Scn8a |
A |
C |
15: 100,930,096 (GRCm39) |
I1436L |
probably benign |
Het |
Slc4a5 |
T |
C |
6: 83,273,729 (GRCm39) |
|
probably null |
Het |
Stox2 |
A |
C |
8: 47,639,500 (GRCm39) |
F898C |
probably damaging |
Het |
Sumo2 |
A |
T |
11: 115,414,601 (GRCm39) |
|
probably null |
Het |
Sycp2 |
C |
T |
2: 178,025,345 (GRCm39) |
E366K |
possibly damaging |
Het |
Tanc1 |
A |
G |
2: 59,622,150 (GRCm39) |
K423R |
probably benign |
Het |
Tbx21 |
T |
A |
11: 97,005,872 (GRCm39) |
Q31L |
possibly damaging |
Het |
Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
Tfdp1 |
C |
T |
8: 13,420,485 (GRCm39) |
R105W |
probably damaging |
Het |
Trav18 |
G |
A |
14: 54,069,122 (GRCm39) |
V55I |
probably benign |
Het |
Trgc1 |
A |
T |
13: 19,400,646 (GRCm39) |
D125V |
unknown |
Het |
Trim55 |
A |
G |
3: 19,726,938 (GRCm39) |
D335G |
probably benign |
Het |
Trim71 |
T |
A |
9: 114,341,772 (GRCm39) |
T837S |
probably benign |
Het |
Vmn1r56 |
T |
C |
7: 5,198,961 (GRCm39) |
T219A |
probably benign |
Het |
Vmn2r17 |
A |
T |
5: 109,575,695 (GRCm39) |
T189S |
probably benign |
Het |
Xaf1 |
A |
G |
11: 72,197,461 (GRCm39) |
T146A |
probably benign |
Het |
Zdbf2 |
T |
C |
1: 63,343,679 (GRCm39) |
V686A |
possibly damaging |
Het |
Zfp65 |
T |
C |
13: 67,856,130 (GRCm39) |
H383R |
probably damaging |
Het |
Zfp932 |
A |
G |
5: 110,157,606 (GRCm39) |
T435A |
probably damaging |
Het |
Zfp947 |
C |
T |
17: 22,364,750 (GRCm39) |
G308D |
probably benign |
Het |
Zswim3 |
T |
A |
2: 164,662,771 (GRCm39) |
V417E |
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 |
R6194:Mmel1
|
UTSW |
4 |
154,967,673 (GRCm39) |
nonsense |
probably null |
|
R6223:Mmel1
|
UTSW |
4 |
154,956,159 (GRCm39) |
splice site |
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'- CGTGTAAAGCACTCTTCTGC -3'
(R):5'- TCAGGACAGACTGGTGTAGC -3'
Sequencing Primer
(F):5'- CCCTGTTCACAGATGGGGAAAC -3'
(R):5'- TGTAGCCACCCTAGTAGGTAAGTC -3'
|
Posted On |
2018-08-29 |