Incidental Mutation 'R1366:Mmp9'
| ID |
156027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp9
|
| Ensembl Gene |
ENSMUSG00000017737 |
| Gene Name |
matrix metallopeptidase 9 |
| Synonyms |
MMP-9, Clg4b, Gel B, Gelatinase B, gelatinase B, B/MMP9 |
| MMRRC Submission |
039431-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1366 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164782700-164797770 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 164795262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 628
(V628E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017881]
[ENSMUST00000137626]
|
| AlphaFold |
P41245 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017881
AA Change: V628E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017881
Gene: ENSMUSG00000017737
AA Change: V628E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
39 |
95 |
2.9e-8 |
PFAM |
|
ZnMc
|
112 |
445 |
3.92e-39 |
SMART |
|
FN2
|
223 |
271 |
8.08e-29 |
SMART |
|
FN2
|
281 |
329 |
6.93e-28 |
SMART |
|
FN2
|
340 |
388 |
9.28e-29 |
SMART |
|
low complexity region
|
449 |
468 |
N/A |
INTRINSIC |
|
Pfam:PT
|
474 |
508 |
1.1e-11 |
PFAM |
|
HX
|
539 |
583 |
2.4e-8 |
SMART |
|
HX
|
585 |
626 |
9.33e-6 |
SMART |
|
HX
|
631 |
677 |
2.74e-3 |
SMART |
|
HX
|
679 |
721 |
1.74e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134382
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137626
|
| SMART Domains |
Protein: ENSMUSP00000120628
Gene: ENSMUSG00000017737
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PDB:1L6J|A
|
20 |
67 |
5e-15 |
PDB |
|
SCOP:d1l6ja1
|
29 |
67 |
2e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144917
|
| Meta Mutation Damage Score |
0.5359 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.8%
|
| Validation Efficiency |
93% (43/46) |
| 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 collagens of type IV, V and XI, and elastin. Mice lacking the encoded protein exhibit an abnormal pattern of skeletal growth plate vascularization and ossification, reduced keratinocyte hyperproliferation at all neoplastic stages, a decreased incidence of invasive tumors, and resistance to experimental autoimmune encephalomyelitis. [provided by RefSeq, Feb 2016]
PHENOTYPE: Null mutants have short long bones with compensatory growth via delayed ossification and apoptosis of hypertrophic chondroctyes. Mutants are protected against ischemic brain injury, damage caused by myocardial infarction, and allergic airway inflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,036,651 (GRCm39) |
S297T |
probably benign |
Het |
| Acsm1 |
T |
C |
7: 119,257,511 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,737,808 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ccdc121 |
T |
A |
5: 31,644,861 (GRCm39) |
C205S |
probably benign |
Het |
| Chd1l |
T |
C |
3: 97,488,465 (GRCm39) |
D517G |
probably damaging |
Het |
| Cir1 |
A |
T |
2: 73,136,757 (GRCm39) |
|
probably benign |
Het |
| Cpxm1 |
G |
A |
2: 130,238,042 (GRCm39) |
R136W |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,830,390 (GRCm39) |
E761D |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,841,270 (GRCm39) |
E1658V |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,846,381 (GRCm39) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Frmd6 |
T |
C |
12: 70,934,663 (GRCm39) |
|
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,914,200 (GRCm39) |
|
probably benign |
Het |
| Hck |
G |
A |
2: 152,980,215 (GRCm39) |
G348D |
probably damaging |
Het |
| Ifnab |
T |
A |
4: 88,609,337 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Ilkap |
A |
G |
1: 91,314,937 (GRCm39) |
I142T |
possibly damaging |
Het |
| Lamc3 |
T |
C |
2: 31,818,859 (GRCm39) |
S1206P |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,382,851 (GRCm39) |
T134A |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,607,406 (GRCm39) |
V67D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,969,236 (GRCm39) |
V630E |
probably damaging |
Het |
| Nkain1 |
A |
G |
4: 130,537,316 (GRCm38) |
V73A |
probably damaging |
Het |
| Nphp4 |
T |
A |
4: 152,587,383 (GRCm39) |
D245E |
probably damaging |
Het |
| Or14j3 |
T |
C |
17: 37,900,655 (GRCm39) |
I196M |
probably benign |
Het |
| Or7a41 |
T |
G |
10: 78,870,876 (GRCm39) |
M82R |
probably damaging |
Het |
| Or9g8 |
G |
A |
2: 85,607,348 (GRCm39) |
C140Y |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,891,038 (GRCm39) |
|
probably benign |
Het |
| Plcxd1 |
A |
C |
5: 110,250,096 (GRCm39) |
I184L |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Scube2 |
A |
G |
7: 109,403,821 (GRCm39) |
Y890H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,928 (GRCm39) |
|
probably null |
Het |
| Tnfaip2 |
T |
G |
12: 111,415,756 (GRCm39) |
F485V |
probably benign |
Het |
| Tpd52 |
T |
C |
3: 9,028,993 (GRCm39) |
D17G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,419,606 (GRCm39) |
D1034G |
probably damaging |
Het |
| Vmn2r118 |
G |
A |
17: 55,900,237 (GRCm39) |
Q556* |
probably null |
Het |
| Zftraf1 |
T |
C |
15: 76,533,169 (GRCm39) |
R190G |
probably damaging |
Het |
|
| Other mutations in Mmp9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01707:Mmp9
|
APN |
2 |
164,791,909 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01980:Mmp9
|
APN |
2 |
164,792,836 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02117:Mmp9
|
APN |
2 |
164,791,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02515:Mmp9
|
APN |
2 |
164,790,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Mmp9
|
APN |
2 |
164,791,235 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02833:Mmp9
|
APN |
2 |
164,791,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02893:Mmp9
|
APN |
2 |
164,790,988 (GRCm39) |
splice site |
probably null |
|
|
IGL02949:Mmp9
|
APN |
2 |
164,793,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03097:Mmp9
|
UTSW |
2 |
164,792,726 (GRCm39) |
splice site |
probably null |
|
|
R0001:Mmp9
|
UTSW |
2 |
164,790,303 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0125:Mmp9
|
UTSW |
2 |
164,793,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Mmp9
|
UTSW |
2 |
164,791,740 (GRCm39) |
nonsense |
probably null |
|
|
R1300:Mmp9
|
UTSW |
2 |
164,790,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1341:Mmp9
|
UTSW |
2 |
164,791,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Mmp9
|
UTSW |
2 |
164,791,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2138:Mmp9
|
UTSW |
2 |
164,794,387 (GRCm39) |
nonsense |
probably null |
|
|
R3405:Mmp9
|
UTSW |
2 |
164,791,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3406:Mmp9
|
UTSW |
2 |
164,791,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4460:Mmp9
|
UTSW |
2 |
164,790,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4655:Mmp9
|
UTSW |
2 |
164,793,122 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5155:Mmp9
|
UTSW |
2 |
164,790,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5309:Mmp9
|
UTSW |
2 |
164,792,715 (GRCm39) |
unclassified |
probably benign |
|
|
R5355:Mmp9
|
UTSW |
2 |
164,792,912 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5476:Mmp9
|
UTSW |
2 |
164,794,414 (GRCm39) |
missense |
probably benign |
|
|
R5505:Mmp9
|
UTSW |
2 |
164,795,528 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5646:Mmp9
|
UTSW |
2 |
164,790,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5725:Mmp9
|
UTSW |
2 |
164,791,256 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6968:Mmp9
|
UTSW |
2 |
164,794,860 (GRCm39) |
missense |
probably benign |
|
|
R7082:Mmp9
|
UTSW |
2 |
164,790,812 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7822:Mmp9
|
UTSW |
2 |
164,790,956 (GRCm39) |
nonsense |
probably null |
|
|
R8181:Mmp9
|
UTSW |
2 |
164,792,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8298:Mmp9
|
UTSW |
2 |
164,792,279 (GRCm39) |
missense |
probably null |
1.00 |
|
R8500:Mmp9
|
UTSW |
2 |
164,795,486 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8911:Mmp9
|
UTSW |
2 |
164,794,568 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9111:Mmp9
|
UTSW |
2 |
164,792,726 (GRCm39) |
splice site |
probably null |
|
|
R9289:Mmp9
|
UTSW |
2 |
164,796,800 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9489:Mmp9
|
UTSW |
2 |
164,793,146 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9582:Mmp9
|
UTSW |
2 |
164,791,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9590:Mmp9
|
UTSW |
2 |
164,790,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9707:Mmp9
|
UTSW |
2 |
164,794,605 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
X0020:Mmp9
|
UTSW |
2 |
164,792,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAACCCGTGAAACTGCGACTCC -3'
(R):5'- TATCCACGCGAATGACGCTCTG -3'
Sequencing Primer
(F):5'- ACATTGGGGggacggac -3'
(R):5'- CTGAGACTTCAAGTCGAATCTGC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation