Incidental Mutation 'IGL03032:Mmp8'
| ID |
408509 |
| 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 # |
IGL03032
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
7558457-7568486 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
T to A
at 7558530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018765]
|
| AlphaFold |
O70138 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018765
|
| SMART Domains |
Protein: ENSMUSP00000018765
Gene: ENSMUSG00000005800
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,119,774 (GRCm39) |
Y177F |
possibly damaging |
Het |
| Als2 |
C |
A |
1: 59,255,189 (GRCm39) |
|
probably benign |
Het |
| Arhgap44 |
A |
G |
11: 64,915,038 (GRCm39) |
L410P |
probably damaging |
Het |
| Atp13a2 |
C |
T |
4: 140,727,666 (GRCm39) |
A481V |
possibly damaging |
Het |
| Bod1l |
C |
A |
5: 41,988,927 (GRCm39) |
L393F |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,780,179 (GRCm39) |
I258N |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,244,458 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
A |
T |
4: 128,412,834 (GRCm39) |
N2542I |
probably benign |
Het |
| Cyp2b9 |
T |
C |
7: 25,898,025 (GRCm39) |
|
probably benign |
Het |
| Dip2c |
A |
T |
13: 9,601,814 (GRCm39) |
I258F |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,854,585 (GRCm39) |
S1560P |
probably benign |
Het |
| Drc7 |
C |
T |
8: 95,802,875 (GRCm39) |
|
probably benign |
Het |
| Gm3667 |
T |
A |
14: 18,269,522 (GRCm39) |
S203C |
probably null |
Het |
| Gramd2a |
A |
G |
9: 59,619,410 (GRCm39) |
E190G |
probably benign |
Het |
| Gstm4 |
T |
C |
3: 107,951,263 (GRCm39) |
D8G |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,067,928 (GRCm39) |
M1820K |
probably benign |
Het |
| Irs4 |
A |
G |
X: 140,505,794 (GRCm39) |
Y801H |
unknown |
Het |
| Loxhd1 |
C |
T |
18: 77,374,169 (GRCm39) |
T80I |
possibly damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip1 |
T |
G |
2: 92,216,958 (GRCm39) |
K446Q |
probably damaging |
Het |
| Mettl21e |
C |
A |
1: 44,249,319 (GRCm39) |
|
probably null |
Het |
| Muc19 |
A |
T |
15: 91,808,424 (GRCm39) |
|
noncoding transcript |
Het |
| Nipsnap3b |
T |
A |
4: 53,015,016 (GRCm39) |
V21E |
possibly damaging |
Het |
| Or1j15 |
C |
A |
2: 36,458,716 (GRCm39) |
Y35* |
probably null |
Het |
| Or5al6 |
A |
G |
2: 85,977,043 (GRCm39) |
F12L |
probably damaging |
Het |
| Or7a38 |
A |
T |
10: 78,753,471 (GRCm39) |
I266F |
probably benign |
Het |
| Parp12 |
G |
A |
6: 39,064,520 (GRCm39) |
|
probably null |
Het |
| Pramel14 |
C |
A |
4: 143,719,815 (GRCm39) |
L183F |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,701,948 (GRCm39) |
T169S |
possibly damaging |
Het |
| Rnf38 |
T |
C |
4: 44,152,529 (GRCm39) |
R12G |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,363,624 (GRCm39) |
|
probably benign |
Het |
| Slpi |
T |
C |
2: 164,197,367 (GRCm39) |
|
probably benign |
Het |
| Snx17 |
G |
A |
5: 31,353,355 (GRCm39) |
V165I |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,880,357 (GRCm39) |
V570A |
probably benign |
Het |
| Vmn1r63 |
A |
G |
7: 5,806,350 (GRCm39) |
M94T |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,672,575 (GRCm39) |
I771V |
probably benign |
Het |
| Wiz |
A |
G |
17: 32,575,532 (GRCm39) |
V868A |
probably benign |
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 |
|
IGL03013:Mmp8
|
APN |
9 |
7,561,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
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