Incidental Mutation 'IGL01802:Mmp8'
| ID |
155548 |
| 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 # |
IGL01802
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
7558457-7568486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 7567441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 434
(F434V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018765]
[ENSMUST00000120900]
[ENSMUST00000151853]
|
| AlphaFold |
O70138 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018765
AA Change: F434V
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000018765
Gene: ENSMUSG00000005800
AA Change: F434V
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120900
|
| SMART Domains |
Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
40 |
100 |
1e-13 |
PFAM |
|
ZnMc
|
116 |
277 |
1.76e-50 |
SMART |
|
HX
|
300 |
342 |
5.97e-4 |
SMART |
|
HX
|
344 |
386 |
1.1e-7 |
SMART |
|
HX
|
391 |
438 |
1.09e-6 |
SMART |
|
HX
|
440 |
480 |
3.2e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151853
|
| SMART Domains |
Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
40 |
100 |
1.1e-13 |
PFAM |
|
ZnMc
|
116 |
303 |
1.81e-43 |
SMART |
|
HX
|
326 |
368 |
5.97e-4 |
SMART |
|
HX
|
370 |
412 |
1.1e-7 |
SMART |
|
HX
|
417 |
464 |
1.09e-6 |
SMART |
|
HX
|
466 |
506 |
3.2e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152878
|
| SMART Domains |
Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
39 |
99 |
1.1e-13 |
PFAM |
|
ZnMc
|
115 |
295 |
1.41e-13 |
SMART |
|
HX
|
245 |
287 |
5.97e-4 |
SMART |
|
HX
|
289 |
331 |
1.1e-7 |
SMART |
|
HX
|
336 |
383 |
1.09e-6 |
SMART |
|
HX
|
385 |
425 |
3.2e-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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,242,438 (GRCm39) |
M1434L |
probably benign |
Het |
| Acta2 |
T |
A |
19: 34,220,836 (GRCm39) |
I291F |
possibly damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,146,714 (GRCm39) |
I230T |
probably damaging |
Het |
| Ark2c |
A |
T |
18: 77,550,610 (GRCm39) |
L106Q |
probably damaging |
Het |
| Copb1 |
A |
C |
7: 113,826,011 (GRCm39) |
S658A |
probably benign |
Het |
| Crtc3 |
A |
T |
7: 80,254,116 (GRCm39) |
C244* |
probably null |
Het |
| Cyp4a14 |
G |
A |
4: 115,352,134 (GRCm39) |
R93* |
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,706,334 (GRCm39) |
F586L |
probably damaging |
Het |
| Dmtn |
G |
T |
14: 70,842,259 (GRCm39) |
F358L |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,651,533 (GRCm39) |
H1014L |
possibly damaging |
Het |
| Ercc6 |
A |
G |
14: 32,284,531 (GRCm39) |
T765A |
probably damaging |
Het |
| Gtf3c4 |
T |
C |
2: 28,724,092 (GRCm39) |
K547E |
probably damaging |
Het |
| Hdc |
G |
T |
2: 126,445,814 (GRCm39) |
A230D |
probably benign |
Het |
| Hipk3 |
A |
T |
2: 104,302,198 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,044,999 (GRCm39) |
I264M |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,401,494 (GRCm39) |
V387I |
probably benign |
Het |
| Nr3c2 |
C |
A |
8: 77,635,224 (GRCm39) |
Y108* |
probably null |
Het |
| Or4k5 |
T |
G |
14: 50,386,173 (GRCm39) |
S53R |
probably benign |
Het |
| Or5b119 |
T |
C |
19: 13,456,729 (GRCm39) |
M278V |
probably benign |
Het |
| Pnpt1 |
A |
T |
11: 29,104,306 (GRCm39) |
D560V |
probably damaging |
Het |
| Rbbp8nl |
T |
C |
2: 179,921,488 (GRCm39) |
S299G |
probably benign |
Het |
| Slc9a4 |
A |
T |
1: 40,646,958 (GRCm39) |
N484I |
probably damaging |
Het |
| Sncaip |
C |
T |
18: 53,002,109 (GRCm39) |
S210F |
probably damaging |
Het |
| Tiam1 |
G |
T |
16: 89,695,260 (GRCm39) |
Q66K |
possibly damaging |
Het |
| Ttc39a |
C |
A |
4: 109,290,281 (GRCm39) |
Y330* |
probably null |
Het |
| Ush2a |
T |
G |
1: 188,169,154 (GRCm39) |
D1098E |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,019,470 (GRCm39) |
E518G |
probably benign |
Het |
|
| Other mutations in Mmp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation