Incidental Mutation 'R0466:Mmp3'
| ID |
41640 |
| 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 |
038666-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R0466 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7445822-7455975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7450165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 299
(D299G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034497]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034497
AA Change: D299G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034497
Gene: ENSMUSG00000043613
AA Change: D299G
| 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 |
0.7924 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
97% (63/65) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
C |
15: 59,887,321 (GRCm39) |
Y373C |
probably benign |
Het |
| Abca12 |
T |
G |
1: 71,341,822 (GRCm39) |
Q1046H |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,714,415 (GRCm39) |
F956S |
probably benign |
Het |
| Alk |
A |
G |
17: 72,212,152 (GRCm39) |
V797A |
possibly damaging |
Het |
| Ascl2 |
A |
G |
7: 142,522,217 (GRCm39) |
L77P |
probably benign |
Het |
| Aspm |
A |
T |
1: 139,405,639 (GRCm39) |
I1509F |
probably damaging |
Het |
| AY358078 |
A |
T |
14: 52,043,089 (GRCm39) |
Y259F |
unknown |
Het |
| Cbs |
G |
A |
17: 31,835,126 (GRCm39) |
A450V |
probably benign |
Het |
| Cdh11 |
T |
A |
8: 103,396,690 (GRCm39) |
Q213L |
possibly damaging |
Het |
| Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
| Cfap126 |
T |
C |
1: 170,953,769 (GRCm39) |
I113T |
probably damaging |
Het |
| Clk4 |
A |
G |
11: 51,158,155 (GRCm39) |
D53G |
possibly damaging |
Het |
| Dab1 |
T |
C |
4: 104,577,747 (GRCm39) |
L272P |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,182,454 (GRCm39) |
|
probably null |
Het |
| Dph5 |
A |
C |
3: 115,722,359 (GRCm39) |
D279A |
probably benign |
Het |
| Fbxw19 |
T |
A |
9: 109,307,717 (GRCm39) |
T461S |
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gcg |
T |
C |
2: 62,307,282 (GRCm39) |
D93G |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,901,365 (GRCm39) |
T395A |
probably damaging |
Het |
| H2-Ob |
A |
G |
17: 34,461,633 (GRCm39) |
D124G |
probably damaging |
Het |
| Itga8 |
G |
T |
2: 12,237,697 (GRCm39) |
A341E |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,634,831 (GRCm39) |
|
probably null |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Kif2c |
C |
T |
4: 117,029,489 (GRCm39) |
R215Q |
possibly damaging |
Het |
| Letm1 |
A |
C |
5: 33,919,074 (GRCm39) |
|
probably benign |
Het |
| Lypd8l |
T |
C |
11: 58,503,331 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
G |
T |
11: 67,189,405 (GRCm39) |
A1194S |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Nfib |
A |
C |
4: 82,416,775 (GRCm39) |
Y87D |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,162,045 (GRCm39) |
|
probably benign |
Het |
| Nsmce1 |
A |
T |
7: 125,071,408 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
T |
A |
18: 7,286,758 (GRCm39) |
I158F |
probably benign |
Het |
| Or7g12 |
T |
G |
9: 18,899,551 (GRCm39) |
V89G |
probably benign |
Het |
| Or7g27 |
A |
T |
9: 19,250,475 (GRCm39) |
T240S |
probably damaging |
Het |
| Patj |
C |
A |
4: 98,576,393 (GRCm39) |
Q1193K |
probably damaging |
Het |
| Pcdhb5 |
G |
A |
18: 37,455,596 (GRCm39) |
V659M |
probably damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pmis2 |
T |
C |
7: 30,370,817 (GRCm39) |
I46V |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,509,216 (GRCm39) |
|
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,370,709 (GRCm39) |
F825S |
probably damaging |
Het |
| Rab11fip2 |
G |
A |
19: 59,894,675 (GRCm39) |
A524V |
possibly damaging |
Het |
| Rb1cc1 |
A |
C |
1: 6,333,491 (GRCm39) |
|
probably null |
Het |
| Rwdd3 |
G |
C |
3: 120,952,668 (GRCm39) |
Q180E |
possibly damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Sgcg |
A |
T |
14: 61,459,135 (GRCm39) |
C265S |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,848,878 (GRCm39) |
S445P |
possibly damaging |
Het |
| Slc22a3 |
G |
A |
17: 12,677,380 (GRCm39) |
Q263* |
probably null |
Het |
| Sorcs3 |
A |
G |
19: 48,736,758 (GRCm39) |
T694A |
probably benign |
Het |
| Tbc1d15 |
T |
C |
10: 115,055,077 (GRCm39) |
K322E |
probably damaging |
Het |
| Tecta |
G |
T |
9: 42,284,369 (GRCm39) |
F905L |
probably benign |
Het |
| Tmeff1 |
A |
G |
4: 48,636,853 (GRCm39) |
I184V |
possibly damaging |
Het |
| Ttf1 |
A |
G |
2: 28,955,419 (GRCm39) |
H261R |
possibly damaging |
Het |
| Ttll6 |
T |
A |
11: 96,036,417 (GRCm39) |
L349M |
probably damaging |
Het |
| Ubac2 |
G |
A |
14: 122,211,031 (GRCm39) |
V134M |
probably damaging |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Vmn2r25 |
T |
G |
6: 123,829,008 (GRCm39) |
I89L |
probably benign |
Het |
| Vmn2r6 |
A |
C |
3: 64,463,723 (GRCm39) |
F370L |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,445,748 (GRCm39) |
Y412* |
probably null |
Het |
| Zfp142 |
A |
G |
1: 74,624,570 (GRCm39) |
S85P |
possibly damaging |
Het |
| Zfp516 |
G |
A |
18: 82,975,579 (GRCm39) |
|
probably null |
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 |
|
|
R0356:Mmp3
|
UTSW |
9 |
7,451,768 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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'- TGTACCCAGTCTACAAGTCCTCCAC -3'
(R):5'- GGACAATGCCAGATCCCAAGGATG -3'
Sequencing Primer
(F):5'- GTCCCTCTATGGTAAGAGAAACTG -3'
(R):5'- AGGATGCCTAGCTCTAGAATTTGTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation