Incidental Mutation 'IGL03013:Mmp8'
| ID |
407847 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mmp8
|
| Ensembl Gene |
ENSMUSG00000005800 |
| Gene Name |
matrix metallopeptidase 8 |
| Synonyms |
Collagenase-2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
7558457-7568486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7561690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 205
(D205G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018765]
|
| AlphaFold |
O70138 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018765
AA Change: D205G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000018765
Gene: ENSMUSG00000005800
AA Change: D205G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
28 |
86 |
2e-13 |
PFAM |
|
ZnMc
|
104 |
263 |
4.38e-60 |
SMART |
|
HX
|
285 |
327 |
7.51e-10 |
SMART |
|
HX
|
329 |
372 |
2.16e-10 |
SMART |
|
HX
|
377 |
422 |
5.91e-17 |
SMART |
|
HX
|
424 |
464 |
2.99e-4 |
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 preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme that degrades types I, II and III collagens. Mice lacking the encoded protein exhibit abnormalities in the inflammatory responses to various agents. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous null males, and to a lesser extent ovariectomized or tamoxifen-treated null females, show increased susceptibility to chemically-induced skin tumors, a sustained inflammatory response to carcinogens, and increased PMN burden in the alveolar space during LPS-mediated acute lung injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| B3galt6 |
G |
A |
4: 156,076,215 (GRCm39) |
Q287* |
probably null |
Het |
| C2 |
A |
G |
17: 35,091,435 (GRCm39) |
V353A |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 47,072,483 (GRCm39) |
Y1017F |
possibly damaging |
Het |
| Copz1 |
T |
A |
15: 103,204,995 (GRCm39) |
M118K |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,226,296 (GRCm39) |
N298D |
probably benign |
Het |
| Exog |
T |
C |
9: 119,291,679 (GRCm39) |
S295P |
possibly damaging |
Het |
| Ext2 |
A |
T |
2: 93,537,571 (GRCm39) |
|
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,761,632 (GRCm39) |
L360S |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,399,023 (GRCm39) |
I70V |
unknown |
Het |
| Krt5 |
T |
A |
15: 101,620,103 (GRCm39) |
I205L |
probably benign |
Het |
| Leng9 |
A |
G |
7: 4,151,737 (GRCm39) |
V313A |
probably damaging |
Het |
| Macrod2 |
A |
G |
2: 141,357,147 (GRCm39) |
I148V |
probably benign |
Het |
| Mapk14 |
G |
T |
17: 28,947,323 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
A |
T |
10: 39,823,891 (GRCm39) |
M123K |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,417,665 (GRCm39) |
H3537L |
possibly damaging |
Het |
| Nde1 |
C |
T |
16: 14,009,611 (GRCm39) |
P324L |
probably benign |
Het |
| Nlrp9b |
A |
T |
7: 19,782,750 (GRCm39) |
H888L |
probably damaging |
Het |
| Npy2r |
A |
G |
3: 82,447,819 (GRCm39) |
F319L |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,030,361 (GRCm39) |
V156A |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,289,945 (GRCm39) |
I99T |
probably benign |
Het |
| Parpbp |
A |
G |
10: 87,975,840 (GRCm39) |
I91T |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,432,003 (GRCm39) |
Y75C |
probably damaging |
Het |
| Pramel12 |
A |
G |
4: 143,144,037 (GRCm39) |
T128A |
possibly damaging |
Het |
| Pramel33 |
A |
T |
5: 93,630,391 (GRCm39) |
S394T |
probably damaging |
Het |
| Prkcb |
C |
A |
7: 122,226,905 (GRCm39) |
D630E |
probably damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,383,349 (GRCm39) |
V5A |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,646,446 (GRCm39) |
S100P |
probably damaging |
Het |
| Sdcbp2 |
A |
G |
2: 151,429,255 (GRCm39) |
T192A |
probably benign |
Het |
| Sema6a |
C |
T |
18: 47,381,461 (GRCm39) |
A1046T |
probably benign |
Het |
| Serpinb3a |
A |
G |
1: 106,973,813 (GRCm39) |
F366S |
probably damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,380,521 (GRCm39) |
W136R |
probably damaging |
Het |
| Smc2 |
G |
T |
4: 52,442,280 (GRCm39) |
V66F |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,923 (GRCm39) |
D3206G |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,976,111 (GRCm39) |
A1187V |
probably benign |
Het |
| Unc5cl |
G |
A |
17: 48,772,049 (GRCm39) |
M442I |
possibly damaging |
Het |
|
| Other mutations in Mmp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01802:Mmp8
|
APN |
9 |
7,567,441 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02524:Mmp8
|
APN |
9 |
7,560,506 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03032:Mmp8
|
APN |
9 |
7,558,530 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0310:Mmp8
|
UTSW |
9 |
7,561,455 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1444:Mmp8
|
UTSW |
9 |
7,567,264 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1511:Mmp8
|
UTSW |
9 |
7,566,279 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2010:Mmp8
|
UTSW |
9 |
7,567,535 (GRCm39) |
nonsense |
probably null |
|
|
R4705:Mmp8
|
UTSW |
9 |
7,565,550 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5287:Mmp8
|
UTSW |
9 |
7,567,507 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5521:Mmp8
|
UTSW |
9 |
7,560,644 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5589:Mmp8
|
UTSW |
9 |
7,566,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5927:Mmp8
|
UTSW |
9 |
7,563,203 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7123:Mmp8
|
UTSW |
9 |
7,563,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7298:Mmp8
|
UTSW |
9 |
7,560,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7489:Mmp8
|
UTSW |
9 |
7,561,388 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7554:Mmp8
|
UTSW |
9 |
7,563,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7625:Mmp8
|
UTSW |
9 |
7,566,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7896:Mmp8
|
UTSW |
9 |
7,564,978 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8918:Mmp8
|
UTSW |
9 |
7,561,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9182:Mmp8
|
UTSW |
9 |
7,567,467 (GRCm39) |
nonsense |
probably null |
|
|
R9280:Mmp8
|
UTSW |
9 |
7,567,292 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9612:Mmp8
|
UTSW |
9 |
7,560,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation