Incidental Mutation 'IGL03366:Mmp3'
| ID |
420103 |
| 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: 0.079)
|
| Stock # |
IGL03366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
7445822-7455975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7450149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 294
(S294P)
|
| 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: S294P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034497
Gene: ENSMUSG00000043613
AA Change: S294P
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2a2 |
T |
A |
7: 141,209,186 (GRCm39) |
S793T |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,727,153 (GRCm39) |
D459G |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,347,977 (GRCm39) |
D704Y |
probably damaging |
Het |
| Cby2 |
A |
G |
14: 75,820,829 (GRCm39) |
S299P |
probably benign |
Het |
| Cry2 |
A |
G |
2: 92,244,060 (GRCm39) |
I371T |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,882,632 (GRCm39) |
F384I |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,187,301 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
G |
T |
13: 14,552,382 (GRCm39) |
D72E |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,064,924 (GRCm39) |
W3046R |
probably damaging |
Het |
| Hydin |
A |
T |
8: 110,993,995 (GRCm39) |
N10Y |
unknown |
Het |
| Ighv8-8 |
T |
A |
12: 115,257,760 (GRCm39) |
T94S |
probably benign |
Het |
| Igkv4-58 |
A |
G |
6: 69,477,538 (GRCm39) |
S20P |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,486,919 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
A |
T |
13: 46,918,099 (GRCm39) |
S403T |
probably benign |
Het |
| Klhl40 |
T |
C |
9: 121,612,446 (GRCm39) |
L616P |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,325,491 (GRCm39) |
L440P |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,594,678 (GRCm39) |
L755P |
probably damaging |
Het |
| Magee2 |
C |
A |
X: 103,899,134 (GRCm39) |
E506* |
probably null |
Het |
| Mast3 |
G |
A |
8: 71,234,207 (GRCm39) |
R143* |
probably null |
Het |
| Med12 |
T |
A |
X: 100,321,695 (GRCm39) |
H459Q |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,234,349 (GRCm39) |
Y714C |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,074,349 (GRCm39) |
L662S |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,791,542 (GRCm39) |
C567F |
probably damaging |
Het |
| Nprl3 |
A |
G |
11: 32,200,256 (GRCm39) |
I20T |
probably damaging |
Het |
| Or10ag2 |
A |
T |
2: 87,248,587 (GRCm39) |
D65V |
possibly damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,665 (GRCm39) |
T487A |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,667,467 (GRCm39) |
E1332G |
probably benign |
Het |
| Pick1 |
T |
C |
15: 79,125,481 (GRCm39) |
S113P |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,507,178 (GRCm39) |
E1023G |
probably damaging |
Het |
| Rspry1 |
A |
C |
8: 95,376,962 (GRCm39) |
I382L |
probably benign |
Het |
| Sf3b3 |
A |
C |
8: 111,566,586 (GRCm39) |
V248G |
probably damaging |
Het |
| Smg5 |
T |
A |
3: 88,253,759 (GRCm39) |
Y126* |
probably null |
Het |
| Spin1 |
T |
C |
13: 51,281,973 (GRCm39) |
V22A |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,872,220 (GRCm39) |
R1189Q |
possibly damaging |
Het |
| Sytl5 |
A |
G |
X: 9,829,939 (GRCm39) |
D538G |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,913,813 (GRCm39) |
M101K |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,576,847 (GRCm39) |
V578A |
probably damaging |
Het |
| Tmem266 |
G |
T |
9: 55,344,517 (GRCm39) |
C383F |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,910,140 (GRCm39) |
|
probably null |
Het |
| Vmn2r104 |
T |
C |
17: 20,249,866 (GRCm39) |
T802A |
probably damaging |
Het |
| Vmn2r32 |
A |
C |
7: 7,467,029 (GRCm39) |
I833S |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,262,328 (GRCm39) |
D137G |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,853,308 (GRCm39) |
S2467L |
probably benign |
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 |
|
IGL02154:Mmp3
|
APN |
9 |
7,453,662 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation