Incidental Mutation 'R0595:Mme'
| ID |
55051 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mme
|
| Ensembl Gene |
ENSMUSG00000027820 |
| Gene Name |
membrane metallo endopeptidase |
| Synonyms |
neprilysin, 6030454K05Rik, neutral endopeptidase, NEP, CD10 |
| MMRRC Submission |
038785-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0595 (G1)
|
| Quality Score |
170 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
63202632-63291134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63235602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 129
(T129A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029400]
[ENSMUST00000191633]
[ENSMUST00000192002]
[ENSMUST00000194134]
[ENSMUST00000194150]
[ENSMUST00000194324]
[ENSMUST00000194836]
|
| AlphaFold |
Q61391 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029400
AA Change: T183A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000029400
Gene: ENSMUSG00000027820
AA Change: T183A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YVC|F
|
2 |
23 |
5e-7 |
PDB |
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
80 |
483 |
8.7e-103 |
PFAM |
|
low complexity region
|
489 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13
|
543 |
749 |
5.8e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191633
AA Change: T129A
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141469
Gene: ENSMUSG00000027820
AA Change: T129A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M13_N
|
14 |
130 |
3.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192002
|
| SMART Domains |
Protein: ENSMUSP00000141483
Gene: ENSMUSG00000027820
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YVC|F
|
2 |
23 |
1e-7 |
PDB |
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
80 |
178 |
1.9e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193805
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194134
AA Change: T183A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000142205
Gene: ENSMUSG00000027820
AA Change: T183A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YVC|F
|
2 |
23 |
5e-7 |
PDB |
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
80 |
483 |
8.4e-134 |
PFAM |
|
low complexity region
|
489 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13
|
543 |
749 |
3.3e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194150
AA Change: T183A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141544
Gene: ENSMUSG00000027820
AA Change: T183A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YVC|F
|
2 |
23 |
5e-7 |
PDB |
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
80 |
483 |
8.4e-134 |
PFAM |
|
low complexity region
|
489 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13
|
543 |
749 |
3.3e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194324
|
| SMART Domains |
Protein: ENSMUSP00000142259
Gene: ENSMUSG00000027820
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YVC|F
|
2 |
23 |
5e-8 |
PDB |
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
80 |
131 |
2.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194836
AA Change: T183A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000141452
Gene: ENSMUSG00000027820
AA Change: T183A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YVC|F
|
2 |
23 |
1e-7 |
PDB |
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
80 |
187 |
5.6e-33 |
PFAM |
|
| Meta Mutation Damage Score |
0.0740 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced allergic contact dermatitis responses, diffuse hepatic necrosis after LPS shock or treatment with a combination of TNF and interleukin-1 beta, and increased brain and plasma amyloid beta peptide levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,790,417 (GRCm39) |
D1093E |
probably damaging |
Het |
| Aldh2 |
G |
T |
5: 121,711,563 (GRCm39) |
A276D |
probably damaging |
Het |
| Aldh2 |
C |
T |
5: 121,711,564 (GRCm39) |
A276T |
probably damaging |
Het |
| Aldh7a1 |
C |
T |
18: 56,679,965 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
C |
T |
7: 144,143,890 (GRCm39) |
R964H |
possibly damaging |
Het |
| Apob |
G |
A |
12: 8,058,369 (GRCm39) |
V2251I |
probably benign |
Het |
| Atp6v1e1 |
A |
G |
6: 120,778,091 (GRCm39) |
V148A |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,408,111 (GRCm39) |
H73Q |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,713 (GRCm39) |
V807A |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,540,001 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,321,703 (GRCm39) |
|
probably null |
Het |
| Cep152 |
T |
C |
2: 125,436,983 (GRCm39) |
Q519R |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,243,487 (GRCm39) |
Y1608* |
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,720,598 (GRCm39) |
I2619V |
unknown |
Het |
| Dnajb9 |
A |
G |
12: 44,255,067 (GRCm39) |
V7A |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,851,408 (GRCm39) |
K1358R |
unknown |
Het |
| Fbxw7 |
C |
A |
3: 84,884,674 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,777,296 (GRCm39) |
Y108H |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,328,493 (GRCm39) |
L331Q |
probably damaging |
Het |
| Ifitm1 |
T |
A |
7: 140,548,242 (GRCm39) |
I25N |
possibly damaging |
Het |
| Krt75 |
C |
T |
15: 101,476,789 (GRCm39) |
E367K |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,206,950 (GRCm39) |
Y487C |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,968,574 (GRCm39) |
G59W |
probably damaging |
Het |
| Mmp10 |
G |
A |
9: 7,508,199 (GRCm39) |
E442K |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,235,672 (GRCm39) |
S646P |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,535,917 (GRCm39) |
I2889N |
probably benign |
Het |
| Nlrp4d |
T |
A |
7: 10,114,972 (GRCm39) |
K581N |
probably benign |
Het |
| Nr3c2 |
C |
T |
8: 77,636,233 (GRCm39) |
P445S |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,810,868 (GRCm39) |
N289K |
probably damaging |
Het |
| Pck1 |
T |
A |
2: 172,998,822 (GRCm39) |
V360E |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 115,744,203 (GRCm39) |
D766G |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,614,156 (GRCm39) |
N1236S |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,625,952 (GRCm39) |
Q3326P |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,073,189 (GRCm39) |
M57T |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,511,120 (GRCm39) |
F330I |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,180,089 (GRCm39) |
E448G |
possibly damaging |
Het |
| Scn10a |
T |
A |
9: 119,495,129 (GRCm39) |
M371L |
probably benign |
Het |
| Sgta |
T |
C |
10: 80,884,742 (GRCm39) |
D189G |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,091 (GRCm39) |
H413R |
probably benign |
Het |
| Stau2 |
T |
C |
1: 16,510,674 (GRCm39) |
T95A |
probably damaging |
Het |
| Supt4a |
C |
T |
11: 87,633,982 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,605,003 (GRCm39) |
|
probably null |
Het |
| Tap2 |
T |
A |
17: 34,431,328 (GRCm39) |
V422D |
probably damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,589,799 (GRCm39) |
L149P |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,062,645 (GRCm39) |
S692P |
probably damaging |
Het |
| Tgm2 |
C |
T |
2: 157,984,962 (GRCm39) |
R48H |
probably damaging |
Het |
| Ticrr |
T |
A |
7: 79,345,311 (GRCm39) |
F1725L |
possibly damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,778,670 (GRCm39) |
C672* |
probably null |
Het |
| Xkr9 |
A |
G |
1: 13,771,008 (GRCm39) |
I175V |
probably benign |
Het |
| Zfp428 |
T |
A |
7: 24,214,803 (GRCm39) |
S140T |
probably benign |
Het |
|
| Other mutations in Mme |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Mme
|
APN |
3 |
63,247,465 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00329:Mme
|
APN |
3 |
63,287,749 (GRCm39) |
nonsense |
probably null |
|
|
IGL01013:Mme
|
APN |
3 |
63,235,281 (GRCm39) |
splice site |
probably null |
|
|
IGL01316:Mme
|
APN |
3 |
63,247,580 (GRCm39) |
splice site |
probably benign |
|
|
IGL01333:Mme
|
APN |
3 |
63,253,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01392:Mme
|
APN |
3 |
63,269,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01566:Mme
|
APN |
3 |
63,269,350 (GRCm39) |
splice site |
probably benign |
|
|
IGL01739:Mme
|
APN |
3 |
63,247,534 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01996:Mme
|
APN |
3 |
63,250,970 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02125:Mme
|
APN |
3 |
63,256,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02154:Mme
|
APN |
3 |
63,250,976 (GRCm39) |
missense |
probably benign |
|
|
IGL03214:Mme
|
APN |
3 |
63,237,111 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03291:Mme
|
APN |
3 |
63,253,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0498:Mme
|
UTSW |
3 |
63,253,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0980:Mme
|
UTSW |
3 |
63,247,550 (GRCm39) |
missense |
probably benign |
|
|
R1210:Mme
|
UTSW |
3 |
63,251,027 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1600:Mme
|
UTSW |
3 |
63,272,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Mme
|
UTSW |
3 |
63,235,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1852:Mme
|
UTSW |
3 |
63,235,404 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2037:Mme
|
UTSW |
3 |
63,235,681 (GRCm39) |
missense |
probably null |
1.00 |
|
R2177:Mme
|
UTSW |
3 |
63,208,426 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2200:Mme
|
UTSW |
3 |
63,287,713 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2306:Mme
|
UTSW |
3 |
63,207,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2847:Mme
|
UTSW |
3 |
63,252,620 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3008:Mme
|
UTSW |
3 |
63,266,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3749:Mme
|
UTSW |
3 |
63,250,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:Mme
|
UTSW |
3 |
63,269,480 (GRCm39) |
splice site |
probably benign |
|
|
R3961:Mme
|
UTSW |
3 |
63,252,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3981:Mme
|
UTSW |
3 |
63,235,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3982:Mme
|
UTSW |
3 |
63,235,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3983:Mme
|
UTSW |
3 |
63,235,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4494:Mme
|
UTSW |
3 |
63,254,613 (GRCm39) |
missense |
probably benign |
|
|
R4589:Mme
|
UTSW |
3 |
63,287,693 (GRCm39) |
missense |
probably benign |
|
|
R4706:Mme
|
UTSW |
3 |
63,256,133 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4871:Mme
|
UTSW |
3 |
63,247,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4957:Mme
|
UTSW |
3 |
63,250,910 (GRCm39) |
splice site |
probably benign |
|
|
R5053:Mme
|
UTSW |
3 |
63,272,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5316:Mme
|
UTSW |
3 |
63,276,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Mme
|
UTSW |
3 |
63,207,702 (GRCm39) |
nonsense |
probably null |
|
|
R5579:Mme
|
UTSW |
3 |
63,256,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6007:Mme
|
UTSW |
3 |
63,250,929 (GRCm39) |
nonsense |
probably null |
|
|
R6022:Mme
|
UTSW |
3 |
63,272,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6143:Mme
|
UTSW |
3 |
63,207,532 (GRCm39) |
splice site |
probably null |
|
|
R6154:Mme
|
UTSW |
3 |
63,207,674 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6333:Mme
|
UTSW |
3 |
63,249,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6476:Mme
|
UTSW |
3 |
63,251,056 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6514:Mme
|
UTSW |
3 |
63,272,265 (GRCm39) |
nonsense |
probably null |
|
|
R6711:Mme
|
UTSW |
3 |
63,249,339 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6842:Mme
|
UTSW |
3 |
63,269,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Mme
|
UTSW |
3 |
63,253,523 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7040:Mme
|
UTSW |
3 |
63,276,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7043:Mme
|
UTSW |
3 |
63,252,638 (GRCm39) |
nonsense |
probably null |
|
|
R7084:Mme
|
UTSW |
3 |
63,235,638 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7126:Mme
|
UTSW |
3 |
63,276,322 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7783:Mme
|
UTSW |
3 |
63,272,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8501:Mme
|
UTSW |
3 |
63,234,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Mme
|
UTSW |
3 |
63,256,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Mme
|
UTSW |
3 |
63,272,306 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9556:Mme
|
UTSW |
3 |
63,272,225 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9648:Mme
|
UTSW |
3 |
63,208,426 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0058:Mme
|
UTSW |
3 |
63,272,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGCAGAGGCGGACAACCTCTAC -3'
(R):5'- TGGAATCTTAGGGCTGAGAGCCAG -3'
Sequencing Primer
(F):5'- GGACAACCTCTACTCAAACTGTTAC -3'
(R):5'- TTGAAAGGAAGAATTAGCACTACTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation