Incidental Mutation 'IGL00235:Mme'
| ID |
2471 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mme
|
| Ensembl Gene |
ENSMUSG00000027820 |
| Gene Name |
membrane metallo endopeptidase |
| Synonyms |
neprilysin, 6030454K05Rik, neutral endopeptidase, NEP, CD10 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00235
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
63202632-63291134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63247465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 250
(I250N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029400]
[ENSMUST00000194134]
[ENSMUST00000194150]
|
| AlphaFold |
Q61391 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029400
AA Change: I250N
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029400
Gene: ENSMUSG00000027820
AA Change: I250N
| 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 |
noncoding transcript
Transcript: ENSMUST00000193805
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194134
AA Change: I250N
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142205
Gene: ENSMUSG00000027820
AA Change: I250N
| 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 |
possibly damaging
Transcript: ENSMUST00000194150
AA Change: I250N
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141544
Gene: ENSMUSG00000027820
AA Change: I250N
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
G |
A |
16: 35,073,583 (GRCm39) |
E454K |
possibly damaging |
Het |
| Agl |
T |
C |
3: 116,565,132 (GRCm39) |
H1039R |
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,842,694 (GRCm39) |
F438L |
probably benign |
Het |
| Casp1 |
A |
T |
9: 5,299,872 (GRCm39) |
|
probably benign |
Het |
| Cnih2 |
G |
T |
19: 5,148,301 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
G |
A |
7: 105,407,950 (GRCm39) |
R1961C |
probably damaging |
Het |
| Defb21 |
G |
A |
2: 152,416,712 (GRCm39) |
V63I |
probably benign |
Het |
| Elovl6 |
T |
A |
3: 129,422,025 (GRCm39) |
N105K |
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,376,493 (GRCm39) |
E402V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,036,398 (GRCm39) |
I3350N |
probably damaging |
Het |
| Gmpr2 |
C |
A |
14: 55,913,171 (GRCm39) |
F149L |
probably damaging |
Het |
| Gucy1b2 |
C |
A |
14: 62,643,694 (GRCm39) |
V636F |
probably damaging |
Het |
| Hapln1 |
A |
C |
13: 89,756,261 (GRCm39) |
Y355S |
probably benign |
Het |
| Hoxb13 |
G |
T |
11: 96,085,468 (GRCm39) |
C67F |
possibly damaging |
Het |
| Hspa12b |
T |
A |
2: 130,976,040 (GRCm39) |
I14N |
probably damaging |
Het |
| Ighe |
C |
A |
12: 113,235,135 (GRCm39) |
V342L |
unknown |
Het |
| Ighv1-49 |
A |
T |
12: 115,019,076 (GRCm39) |
S21T |
possibly damaging |
Het |
| Klhl17 |
A |
G |
4: 156,318,319 (GRCm39) |
I101T |
possibly damaging |
Het |
| Lrrd1 |
T |
G |
5: 3,900,573 (GRCm39) |
L293V |
possibly damaging |
Het |
| Lyrm4 |
T |
A |
13: 36,276,865 (GRCm39) |
K44M |
probably damaging |
Het |
| Med15 |
G |
T |
16: 17,498,590 (GRCm39) |
P101T |
probably damaging |
Het |
| Mgat4c |
A |
T |
10: 102,224,581 (GRCm39) |
H265L |
probably damaging |
Het |
| Mxra8 |
C |
A |
4: 155,927,020 (GRCm39) |
T318N |
probably benign |
Het |
| Nlrp9b |
G |
A |
7: 19,757,203 (GRCm39) |
V147I |
probably benign |
Het |
| Npepl1 |
G |
T |
2: 173,962,341 (GRCm39) |
V336L |
probably damaging |
Het |
| Or1e23 |
G |
A |
11: 73,407,236 (GRCm39) |
S263L |
possibly damaging |
Het |
| Pank2 |
T |
C |
2: 131,116,089 (GRCm39) |
I169T |
possibly damaging |
Het |
| Pgap6 |
T |
C |
17: 26,336,493 (GRCm39) |
S204P |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,419,415 (GRCm39) |
H2960L |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,329,852 (GRCm39) |
R135G |
probably benign |
Het |
| Prdm8 |
T |
G |
5: 98,331,202 (GRCm39) |
V18G |
probably damaging |
Het |
| Rhox7b |
G |
T |
X: 36,978,539 (GRCm39) |
P231T |
probably damaging |
Het |
| Rnf121 |
A |
T |
7: 101,714,322 (GRCm39) |
|
probably benign |
Het |
| Skap1 |
T |
C |
11: 96,380,736 (GRCm39) |
F45S |
probably damaging |
Het |
| Slc4a5 |
T |
A |
6: 83,262,881 (GRCm39) |
L791Q |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,080,637 (GRCm39) |
D931G |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,399,807 (GRCm39) |
Y382C |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,051,346 (GRCm39) |
F307L |
probably benign |
Het |
| Zfhx2 |
C |
A |
14: 55,300,714 (GRCm39) |
A2346S |
probably benign |
Het |
|
| Other mutations in Mme |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0595:Mme
|
UTSW |
3 |
63,235,602 (GRCm39) |
missense |
probably benign |
0.27 |
|
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 |
|
| Posted On |
2011-12-09 |
Incidental Mutation