Incidental Mutation 'IGL02524:Mmp8'
| ID |
297003 |
| 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 # |
IGL02524
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
7558457-7568486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7560506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 61
(E61G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018765]
|
| AlphaFold |
O70138 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018765
AA Change: E61G
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000018765
Gene: ENSMUSG00000005800
AA Change: E61G
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,338,319 (GRCm39) |
|
probably benign |
Het |
| Asap3 |
A |
T |
4: 135,965,927 (GRCm39) |
T453S |
probably damaging |
Het |
| Ccdc110 |
C |
T |
8: 46,394,979 (GRCm39) |
P290L |
probably benign |
Het |
| Ccdc127 |
A |
G |
13: 74,501,016 (GRCm39) |
N11S |
probably damaging |
Het |
| Cd80 |
T |
C |
16: 38,303,045 (GRCm39) |
V164A |
probably benign |
Het |
| Ctnna3 |
T |
C |
10: 64,096,605 (GRCm39) |
I381T |
possibly damaging |
Het |
| Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
| Etnppl |
A |
G |
3: 130,424,320 (GRCm39) |
|
probably benign |
Het |
| Far2 |
T |
A |
6: 148,052,156 (GRCm39) |
L145Q |
probably damaging |
Het |
| Fdxr |
A |
G |
11: 115,162,086 (GRCm39) |
|
probably null |
Het |
| Jmy |
A |
G |
13: 93,609,268 (GRCm39) |
V347A |
probably damaging |
Het |
| Kcns2 |
A |
G |
15: 34,838,981 (GRCm39) |
I115V |
probably benign |
Het |
| Kif2a |
A |
G |
13: 107,100,863 (GRCm39) |
L627S |
possibly damaging |
Het |
| Krtap26-1 |
A |
G |
16: 88,444,367 (GRCm39) |
S85P |
possibly damaging |
Het |
| Ldlr |
C |
A |
9: 21,644,977 (GRCm39) |
D168E |
probably damaging |
Het |
| Lrrc8e |
T |
G |
8: 4,285,392 (GRCm39) |
L539R |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,985,785 (GRCm39) |
F121L |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,140,066 (GRCm39) |
K638E |
possibly damaging |
Het |
| Ndufaf6 |
A |
G |
4: 11,059,091 (GRCm39) |
F246S |
probably benign |
Het |
| Nynrin |
C |
T |
14: 56,108,931 (GRCm39) |
A1346V |
possibly damaging |
Het |
| Or8k53 |
A |
C |
2: 86,177,686 (GRCm39) |
C141W |
probably damaging |
Het |
| P2rx1 |
C |
T |
11: 72,900,474 (GRCm39) |
P196L |
probably damaging |
Het |
| Pbx3 |
T |
C |
2: 34,260,830 (GRCm39) |
|
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,073,232 (GRCm39) |
S30T |
probably benign |
Het |
| Rack1 |
T |
C |
11: 48,694,298 (GRCm39) |
V166A |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,358,511 (GRCm39) |
T206A |
probably benign |
Het |
| Rrp7a |
A |
G |
15: 83,002,379 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
C |
T |
6: 141,616,798 (GRCm39) |
T377I |
probably benign |
Het |
| Spmip11 |
G |
A |
15: 98,469,006 (GRCm39) |
|
probably null |
Het |
| Sult2a6 |
A |
T |
7: 13,970,611 (GRCm39) |
S162T |
possibly damaging |
Het |
| Syt2 |
A |
G |
1: 134,669,703 (GRCm39) |
K115E |
probably benign |
Het |
| Tet1 |
A |
G |
10: 62,714,425 (GRCm39) |
S457P |
probably damaging |
Het |
| Trbv3 |
A |
G |
6: 41,025,599 (GRCm39) |
E63G |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,961,145 (GRCm39) |
Y404C |
probably damaging |
Het |
| Usp32 |
G |
A |
11: 84,900,837 (GRCm39) |
R1128* |
probably null |
Het |
| Vps4a |
G |
A |
8: 107,763,383 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,980,921 (GRCm39) |
H505Q |
probably damaging |
Het |
| Ywhab |
T |
A |
2: 163,858,057 (GRCm39) |
L208Q |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,641,022 (GRCm39) |
K1241E |
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 |
|
IGL03013:Mmp8
|
APN |
9 |
7,561,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-04-16 |
Incidental Mutation