Incidental Mutation 'IGL02154:Mmp3'
| ID |
282157 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mmp3
|
| Ensembl Gene |
ENSMUSG00000043613 |
| Gene Name |
matrix metallopeptidase 3 |
| Synonyms |
Stmy1, SLN-1, Str1, stromelysin 1, STR-1, stromelysin-1, SLN1, progelatinase |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL02154
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
7445822-7455975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7453662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 428
(I428L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034497]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034497
AA Change: I428L
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000034497
Gene: ENSMUSG00000043613
AA Change: I428L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
29 |
89 |
1.7e-12 |
PFAM |
|
ZnMc
|
107 |
267 |
6.24e-65 |
SMART |
|
HX
|
298 |
340 |
4.56e-9 |
SMART |
|
HX
|
342 |
385 |
2.87e-6 |
SMART |
|
HX
|
390 |
437 |
4.73e-16 |
SMART |
|
HX
|
439 |
479 |
3.3e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded protein is activated by the removal of an N-temrinal activation peptide to generate a zinc-dependent endopeptidase with a broad range of substrates such as proteoglycans, laminin, fibronectin, elastin, and collagens. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disrutptions in this gene display abnormalities of the immune system as well as minor structural abnormalities in the neuromuscular junction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Armh4 |
G |
A |
14: 50,010,399 (GRCm39) |
T436I |
possibly damaging |
Het |
| AW551984 |
G |
A |
9: 39,500,398 (GRCm39) |
R787C |
possibly damaging |
Het |
| Cadm1 |
A |
T |
9: 47,725,201 (GRCm39) |
I321L |
probably benign |
Het |
| Cfap57 |
A |
G |
4: 118,470,214 (GRCm39) |
L222P |
probably damaging |
Het |
| Cox20 |
A |
G |
1: 178,150,119 (GRCm39) |
I98V |
probably benign |
Het |
| Dmrta1 |
A |
G |
4: 89,580,150 (GRCm39) |
N370S |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,015,087 (GRCm39) |
F386L |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,320,559 (GRCm39) |
I1323V |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,592,266 (GRCm39) |
S211P |
probably damaging |
Het |
| Galnt10 |
T |
G |
11: 57,675,531 (GRCm39) |
L597V |
probably damaging |
Het |
| Gtf2e2 |
T |
C |
8: 34,245,989 (GRCm39) |
|
probably null |
Het |
| Inpp4b |
T |
A |
8: 82,696,130 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
T |
G |
6: 145,083,967 (GRCm39) |
M44R |
possibly damaging |
Het |
| Lacc1 |
A |
G |
14: 77,270,727 (GRCm39) |
V269A |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,740,395 (GRCm39) |
D3750G |
probably benign |
Het |
| Mme |
A |
T |
3: 63,250,976 (GRCm39) |
Q339L |
probably benign |
Het |
| Myrf |
A |
T |
19: 10,193,482 (GRCm39) |
I558N |
probably damaging |
Het |
| Or52e8 |
C |
T |
7: 104,625,188 (GRCm39) |
M1I |
probably null |
Het |
| Phb1 |
A |
G |
11: 95,565,997 (GRCm39) |
I94V |
possibly damaging |
Het |
| Prg4 |
T |
A |
1: 150,330,613 (GRCm39) |
|
probably benign |
Het |
| Sirpb1a |
T |
C |
3: 15,475,504 (GRCm39) |
T344A |
probably damaging |
Het |
| Skap2 |
T |
C |
6: 51,989,308 (GRCm39) |
|
probably benign |
Het |
| Slc29a1 |
A |
G |
17: 45,897,089 (GRCm39) |
I399T |
probably damaging |
Het |
| Sorl1 |
C |
T |
9: 41,915,330 (GRCm39) |
V1300I |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,678 (GRCm39) |
V272A |
probably benign |
Het |
| Tctn2 |
C |
A |
5: 124,746,624 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem51 |
T |
C |
4: 141,759,089 (GRCm39) |
N220D |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,947,888 (GRCm39) |
D584G |
probably damaging |
Het |
| Vmn1r78 |
A |
G |
7: 11,886,472 (GRCm39) |
I28V |
probably benign |
Het |
| Vmn2r95 |
A |
C |
17: 18,672,248 (GRCm39) |
I662L |
probably benign |
Het |
| Vwa8 |
C |
A |
14: 79,086,733 (GRCm39) |
R4S |
possibly damaging |
Het |
|
| Other mutations in Mmp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Mmp3
|
APN |
9 |
7,445,894 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01738:Mmp3
|
APN |
9 |
7,446,946 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02212:Mmp3
|
APN |
9 |
7,450,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02568:Mmp3
|
APN |
9 |
7,446,001 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03366:Mmp3
|
APN |
9 |
7,450,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0047:Mmp3
|
UTSW |
9 |
7,451,910 (GRCm39) |
splice site |
probably benign |
|
|
R0047:Mmp3
|
UTSW |
9 |
7,451,910 (GRCm39) |
splice site |
probably benign |
|
|
R0356:Mmp3
|
UTSW |
9 |
7,451,768 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0390:Mmp3
|
UTSW |
9 |
7,451,320 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0401:Mmp3
|
UTSW |
9 |
7,449,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0466:Mmp3
|
UTSW |
9 |
7,450,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0549:Mmp3
|
UTSW |
9 |
7,455,638 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0903:Mmp3
|
UTSW |
9 |
7,445,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1438:Mmp3
|
UTSW |
9 |
7,453,705 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1498:Mmp3
|
UTSW |
9 |
7,446,967 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1515:Mmp3
|
UTSW |
9 |
7,451,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1629:Mmp3
|
UTSW |
9 |
7,447,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1844:Mmp3
|
UTSW |
9 |
7,453,662 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1858:Mmp3
|
UTSW |
9 |
7,451,799 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2099:Mmp3
|
UTSW |
9 |
7,453,672 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2497:Mmp3
|
UTSW |
9 |
7,450,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2571:Mmp3
|
UTSW |
9 |
7,451,844 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4659:Mmp3
|
UTSW |
9 |
7,453,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4687:Mmp3
|
UTSW |
9 |
7,451,223 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4717:Mmp3
|
UTSW |
9 |
7,449,881 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4930:Mmp3
|
UTSW |
9 |
7,447,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4932:Mmp3
|
UTSW |
9 |
7,446,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5020:Mmp3
|
UTSW |
9 |
7,445,984 (GRCm39) |
missense |
probably benign |
|
|
R5384:Mmp3
|
UTSW |
9 |
7,451,759 (GRCm39) |
nonsense |
probably null |
|
|
R5385:Mmp3
|
UTSW |
9 |
7,451,759 (GRCm39) |
nonsense |
probably null |
|
|
R5408:Mmp3
|
UTSW |
9 |
7,449,904 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6268:Mmp3
|
UTSW |
9 |
7,447,622 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7317:Mmp3
|
UTSW |
9 |
7,446,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7467:Mmp3
|
UTSW |
9 |
7,450,125 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7467:Mmp3
|
UTSW |
9 |
7,447,621 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8101:Mmp3
|
UTSW |
9 |
7,446,985 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9098:Mmp3
|
UTSW |
9 |
7,446,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9486:Mmp3
|
UTSW |
9 |
7,451,256 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
X0022:Mmp3
|
UTSW |
9 |
7,449,857 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Posted On |
2015-04-16 |
Incidental Mutation