Incidental Mutation 'R0356:Mmp3'
ID |
29827 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmp3
|
Ensembl Gene |
ENSMUSG00000043613 |
Gene Name |
matrix metallopeptidase 3 |
Synonyms |
Stmy1, SLN-1, Str1, stromelysin 1, STR-1, stromelysin-1, SLN1, progelatinase |
MMRRC Submission |
038562-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R0356 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
7445822-7455975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 7451768 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 369
(E369K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034497
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034497]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034497
AA Change: E369K
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000034497 Gene: ENSMUSG00000043613 AA Change: E369K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:PG_binding_1
|
29 |
89 |
1.7e-12 |
PFAM |
ZnMc
|
107 |
267 |
6.24e-65 |
SMART |
HX
|
298 |
340 |
4.56e-9 |
SMART |
HX
|
342 |
385 |
2.87e-6 |
SMART |
HX
|
390 |
437 |
4.73e-16 |
SMART |
HX
|
439 |
479 |
3.3e-6 |
SMART |
|
Meta Mutation Damage Score |
0.1683 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.6%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
100% (47/47) |
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 protein is activated by the removal of an N-temrinal activation peptide to generate a zinc-dependent endopeptidase with a broad range of substrates such as proteoglycans, laminin, fibronectin, elastin, and collagens. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016] PHENOTYPE: Mice homozygous for disrutptions in this gene display abnormalities of the immune system as well as minor structural abnormalities in the neuromuscular junction. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430097D07Rik |
T |
C |
2: 32,464,418 (GRCm39) |
|
probably benign |
Het |
Adgrg6 |
C |
T |
10: 14,302,642 (GRCm39) |
V924M |
possibly damaging |
Het |
Anxa9 |
A |
G |
3: 95,215,387 (GRCm39) |
|
probably benign |
Het |
Ap3d1 |
G |
T |
10: 80,563,812 (GRCm39) |
S122R |
probably damaging |
Het |
Arhgap5 |
T |
C |
12: 52,563,091 (GRCm39) |
S21P |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,167,573 (GRCm39) |
|
probably benign |
Het |
AU040320 |
A |
T |
4: 126,731,155 (GRCm39) |
D618V |
probably damaging |
Het |
Cbfa2t2 |
T |
A |
2: 154,373,269 (GRCm39) |
D475E |
probably benign |
Het |
Ccdc202 |
T |
A |
14: 96,119,801 (GRCm39) |
V186E |
possibly damaging |
Het |
Ccdc62 |
G |
A |
5: 124,092,811 (GRCm39) |
V599I |
probably benign |
Het |
Cenpj |
T |
C |
14: 56,786,953 (GRCm39) |
E917G |
probably damaging |
Het |
Cog5 |
T |
C |
12: 31,887,180 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
T |
A |
1: 24,224,328 (GRCm39) |
L170* |
probably null |
Het |
Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
Dnah9 |
A |
G |
11: 66,021,388 (GRCm39) |
|
probably null |
Het |
Drg2 |
T |
A |
11: 60,352,407 (GRCm39) |
V203E |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,865,930 (GRCm39) |
Y1586C |
probably damaging |
Het |
Gp6 |
A |
T |
7: 4,373,141 (GRCm39) |
|
probably benign |
Het |
Hhip |
T |
C |
8: 80,724,121 (GRCm39) |
I374V |
probably benign |
Het |
Hspa12b |
G |
T |
2: 130,986,719 (GRCm39) |
V547L |
possibly damaging |
Het |
Iars1 |
G |
A |
13: 49,856,709 (GRCm39) |
V321I |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,187,532 (GRCm39) |
M716V |
possibly damaging |
Het |
Lcn5 |
T |
C |
2: 25,550,705 (GRCm39) |
I131T |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,306,135 (GRCm39) |
T614M |
probably benign |
Het |
Myt1l |
A |
G |
12: 29,861,500 (GRCm39) |
D94G |
unknown |
Het |
Neil1 |
T |
C |
9: 57,054,180 (GRCm39) |
I47V |
possibly damaging |
Het |
Nr5a2 |
T |
C |
1: 136,773,430 (GRCm39) |
N424S |
possibly damaging |
Het |
Or1e21 |
A |
T |
11: 73,344,906 (GRCm39) |
I44N |
possibly damaging |
Het |
Or51f5 |
A |
T |
7: 102,424,286 (GRCm39) |
D185V |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,441 (GRCm39) |
T245A |
possibly damaging |
Het |
Or7e166 |
G |
T |
9: 19,624,743 (GRCm39) |
G207C |
probably damaging |
Het |
Pakap |
C |
A |
4: 57,855,628 (GRCm39) |
T360K |
possibly damaging |
Het |
Pde8b |
G |
T |
13: 95,182,962 (GRCm39) |
N265K |
probably damaging |
Het |
Prpf40b |
T |
C |
15: 99,203,080 (GRCm39) |
|
probably null |
Het |
Samd9l |
T |
C |
6: 3,375,107 (GRCm39) |
D718G |
possibly damaging |
Het |
Sirpb1c |
T |
C |
3: 15,887,309 (GRCm39) |
N175D |
possibly damaging |
Het |
Srgap1 |
A |
T |
10: 121,691,441 (GRCm39) |
|
probably null |
Het |
Tgm5 |
T |
A |
2: 120,884,055 (GRCm39) |
T313S |
probably damaging |
Het |
Tigar |
A |
G |
6: 127,068,145 (GRCm39) |
|
probably null |
Het |
Tmprss11b |
A |
G |
5: 86,808,326 (GRCm39) |
*417Q |
probably null |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Ttll11 |
T |
C |
2: 35,792,688 (GRCm39) |
D385G |
possibly damaging |
Het |
Zfp426 |
T |
C |
9: 20,382,541 (GRCm39) |
T135A |
probably benign |
Het |
|
Other mutations in Mmp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00579:Mmp3
|
APN |
9 |
7,445,894 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL01738:Mmp3
|
APN |
9 |
7,446,946 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02154:Mmp3
|
APN |
9 |
7,453,662 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02212:Mmp3
|
APN |
9 |
7,450,165 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02568:Mmp3
|
APN |
9 |
7,446,001 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03366:Mmp3
|
APN |
9 |
7,450,149 (GRCm39) |
missense |
probably benign |
0.00 |
R0047:Mmp3
|
UTSW |
9 |
7,451,910 (GRCm39) |
splice site |
probably benign |
|
R0047:Mmp3
|
UTSW |
9 |
7,451,910 (GRCm39) |
splice site |
probably benign |
|
R0390:Mmp3
|
UTSW |
9 |
7,451,320 (GRCm39) |
missense |
probably benign |
0.29 |
R0401:Mmp3
|
UTSW |
9 |
7,449,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R0466:Mmp3
|
UTSW |
9 |
7,450,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R0549:Mmp3
|
UTSW |
9 |
7,455,638 (GRCm39) |
missense |
probably benign |
0.08 |
R0903:Mmp3
|
UTSW |
9 |
7,445,994 (GRCm39) |
missense |
probably benign |
0.00 |
R1438:Mmp3
|
UTSW |
9 |
7,453,705 (GRCm39) |
missense |
probably benign |
0.22 |
R1498:Mmp3
|
UTSW |
9 |
7,446,967 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1515:Mmp3
|
UTSW |
9 |
7,451,232 (GRCm39) |
missense |
probably benign |
0.01 |
R1629:Mmp3
|
UTSW |
9 |
7,447,641 (GRCm39) |
missense |
probably benign |
0.00 |
R1844:Mmp3
|
UTSW |
9 |
7,453,662 (GRCm39) |
missense |
probably benign |
0.19 |
R1858:Mmp3
|
UTSW |
9 |
7,451,799 (GRCm39) |
missense |
probably benign |
0.08 |
R2099:Mmp3
|
UTSW |
9 |
7,453,672 (GRCm39) |
missense |
probably benign |
0.01 |
R2497:Mmp3
|
UTSW |
9 |
7,450,131 (GRCm39) |
missense |
probably benign |
0.00 |
R2571:Mmp3
|
UTSW |
9 |
7,451,844 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4659:Mmp3
|
UTSW |
9 |
7,453,673 (GRCm39) |
missense |
probably benign |
0.00 |
R4687:Mmp3
|
UTSW |
9 |
7,451,223 (GRCm39) |
missense |
probably benign |
0.03 |
R4717:Mmp3
|
UTSW |
9 |
7,449,881 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4930:Mmp3
|
UTSW |
9 |
7,447,640 (GRCm39) |
missense |
probably benign |
0.02 |
R4932:Mmp3
|
UTSW |
9 |
7,446,994 (GRCm39) |
missense |
probably benign |
0.00 |
R5020:Mmp3
|
UTSW |
9 |
7,445,984 (GRCm39) |
missense |
probably benign |
|
R5384:Mmp3
|
UTSW |
9 |
7,451,759 (GRCm39) |
nonsense |
probably null |
|
R5385:Mmp3
|
UTSW |
9 |
7,451,759 (GRCm39) |
nonsense |
probably null |
|
R5408:Mmp3
|
UTSW |
9 |
7,449,904 (GRCm39) |
missense |
probably damaging |
0.98 |
R6268:Mmp3
|
UTSW |
9 |
7,447,622 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7317:Mmp3
|
UTSW |
9 |
7,446,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R7467:Mmp3
|
UTSW |
9 |
7,450,125 (GRCm39) |
missense |
probably benign |
0.07 |
R7467:Mmp3
|
UTSW |
9 |
7,447,621 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8101:Mmp3
|
UTSW |
9 |
7,446,985 (GRCm39) |
missense |
probably benign |
0.19 |
R9098:Mmp3
|
UTSW |
9 |
7,446,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R9486:Mmp3
|
UTSW |
9 |
7,451,256 (GRCm39) |
missense |
possibly damaging |
0.50 |
X0022:Mmp3
|
UTSW |
9 |
7,449,857 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGGCGCAAATCTCTCAGGACTC -3'
(R):5'- GCTGCTGCTGTTTAAAAGCCCTTC -3'
Sequencing Primer
(F):5'- ACTTAGTGAGACAAGCCTCTG -3'
(R):5'- TCCCATAGTTGCCAGAGGGAG -3'
|
Posted On |
2013-04-24 |