Incidental Mutation 'R8684:Mmp13'
| ID |
661948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp13
|
| Ensembl Gene |
ENSMUSG00000050578 |
| Gene Name |
matrix metallopeptidase 13 |
| Synonyms |
interstitial collagenase, Collagenase-3, collagenase-1, MMP-13, Mmp1, Clg |
| MMRRC Submission |
068539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R8684 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7272514-7283331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7282089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 464
(M464V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015394]
|
| AlphaFold |
P33435 |
| PDB Structure |
STRUCTURE OF RECOMBINANT MOUSE COLLAGENASE-3 (MMP-13) [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015394
AA Change: M464V
PolyPhen 2
Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000015394
Gene: ENSMUSG00000050578
AA Change: M464V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
33 |
92 |
5.3e-13 |
PFAM |
|
ZnMc
|
110 |
269 |
3.76e-59 |
SMART |
|
HX
|
291 |
333 |
9.62e-8 |
SMART |
|
HX
|
335 |
378 |
9.91e-10 |
SMART |
|
HX
|
383 |
430 |
2.52e-11 |
SMART |
|
HX
|
432 |
472 |
1.81e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the matrix metalloproteinase family that plays a role in wound healing, skeletal development and bone remodeling. The encoded protein is activated by the removal of an N-terminal activation peptide to generate a zinc-dependent endopeptidase enzyme that can cleave various native collagens, including types I - IV, X and XIV. Mice lacking the encoded protein display profound defects in growth plate cartilage as well as a delay in the endochondral bone development. Lack of the encoded protein also impairs the wound healing process due to reduced keratinocyte migration and vascular density at the wound site. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Jun 2015]
PHENOTYPE: Homozygous null mice display increased width of hypertrophic chondrocyte zone and increased trabecular bone. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
C |
T |
7: 42,097,413 (GRCm39) |
R27H |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,336,508 (GRCm39) |
L2229Q |
possibly damaging |
Het |
| Adamts4 |
A |
T |
1: 171,086,541 (GRCm39) |
T778S |
probably damaging |
Het |
| AY358078 |
T |
G |
14: 52,059,597 (GRCm39) |
Y311* |
probably null |
Het |
| Catsperg1 |
C |
T |
7: 28,897,825 (GRCm39) |
V181M |
probably damaging |
Het |
| Cdcp3 |
C |
A |
7: 130,837,688 (GRCm39) |
S528* |
probably null |
Het |
| Cep70 |
A |
G |
9: 99,145,842 (GRCm39) |
K170E |
possibly damaging |
Het |
| Coro1b |
T |
A |
19: 4,199,527 (GRCm39) |
V62E |
probably damaging |
Het |
| Dnajc11 |
T |
C |
4: 152,065,183 (GRCm39) |
*560Q |
probably null |
Het |
| Eci3 |
T |
C |
13: 35,143,874 (GRCm39) |
N84D |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,045,111 (GRCm39) |
V2133E |
probably benign |
Het |
| Fancl |
C |
A |
11: 26,420,826 (GRCm39) |
P116Q |
|
Het |
| Gm10801 |
ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC |
ATTTTCAGTTTTC |
2: 98,492,669 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
C |
T |
16: 36,734,764 (GRCm39) |
T1378M |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,096,147 (GRCm39) |
N342S |
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,864,561 (GRCm39) |
K732E |
probably damaging |
Het |
| Lce1e |
A |
T |
3: 92,615,269 (GRCm39) |
I26N |
unknown |
Het |
| Lingo1 |
T |
C |
9: 56,528,106 (GRCm39) |
Y167C |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,012,566 (GRCm39) |
E35G |
probably benign |
Het |
| Mov10 |
T |
C |
3: 104,711,690 (GRCm39) |
H199R |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,386,368 (GRCm39) |
T765A |
probably damaging |
Het |
| Nlgn3 |
C |
T |
X: 100,363,425 (GRCm39) |
R679* |
probably null |
Het |
| Nrp1 |
C |
T |
8: 129,085,885 (GRCm39) |
|
probably benign |
Het |
| Nup88 |
C |
A |
11: 70,860,687 (GRCm39) |
V31L |
probably benign |
Het |
| Or2r11 |
T |
C |
6: 42,437,827 (GRCm39) |
N42S |
probably damaging |
Het |
| Or5d39 |
T |
C |
2: 87,979,872 (GRCm39) |
T164A |
probably benign |
Het |
| Or7a36 |
A |
T |
10: 78,820,212 (GRCm39) |
D196V |
probably benign |
Het |
| Pah |
A |
G |
10: 87,414,827 (GRCm39) |
N393S |
probably benign |
Het |
| Peli3 |
T |
C |
19: 4,985,022 (GRCm39) |
Y163C |
probably damaging |
Het |
| Rasgef1b |
A |
T |
5: 99,524,994 (GRCm39) |
M55K |
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,264,302 (GRCm39) |
D930G |
possibly damaging |
Het |
| Rpgrip1l |
T |
G |
8: 92,000,329 (GRCm39) |
M537L |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,702,875 (GRCm39) |
V2871E |
probably damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,841 (GRCm39) |
N171Y |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sox2 |
T |
A |
3: 34,705,016 (GRCm39) |
L151Q |
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,305 (GRCm39) |
E754G |
probably benign |
Het |
| Sulf1 |
A |
T |
1: 12,867,004 (GRCm39) |
M63L |
probably benign |
Het |
| Traf2 |
A |
G |
2: 25,410,458 (GRCm39) |
M390T |
probably damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,310,266 (GRCm39) |
V16A |
probably damaging |
Het |
| Trmo |
C |
T |
4: 46,386,251 (GRCm39) |
W84* |
probably null |
Het |
| Trmo |
T |
C |
4: 46,386,253 (GRCm39) |
|
probably null |
Het |
| Ttyh1 |
T |
A |
7: 4,133,791 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,643,220 (GRCm39) |
N4194S |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,486,511 (GRCm39) |
Y259C |
probably damaging |
Het |
| Vmn2r94 |
T |
A |
17: 18,497,912 (GRCm39) |
|
probably benign |
Het |
| Zfp101 |
A |
G |
17: 33,600,977 (GRCm39) |
S260P |
possibly damaging |
Het |
|
| Other mutations in Mmp13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01976:Mmp13
|
APN |
9 |
7,278,974 (GRCm39) |
splice site |
probably benign |
|
|
IGL02027:Mmp13
|
APN |
9 |
7,272,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02320:Mmp13
|
APN |
9 |
7,278,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0143:Mmp13
|
UTSW |
9 |
7,276,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Mmp13
|
UTSW |
9 |
7,276,602 (GRCm39) |
missense |
probably benign |
|
|
R0505:Mmp13
|
UTSW |
9 |
7,272,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0624:Mmp13
|
UTSW |
9 |
7,280,221 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0632:Mmp13
|
UTSW |
9 |
7,282,077 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0632:Mmp13
|
UTSW |
9 |
7,274,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Mmp13
|
UTSW |
9 |
7,272,952 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1387:Mmp13
|
UTSW |
9 |
7,282,033 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1478:Mmp13
|
UTSW |
9 |
7,272,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Mmp13
|
UTSW |
9 |
7,277,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4647:Mmp13
|
UTSW |
9 |
7,274,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4648:Mmp13
|
UTSW |
9 |
7,274,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Mmp13
|
UTSW |
9 |
7,272,580 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4827:Mmp13
|
UTSW |
9 |
7,278,880 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4898:Mmp13
|
UTSW |
9 |
7,272,953 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5780:Mmp13
|
UTSW |
9 |
7,278,952 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5946:Mmp13
|
UTSW |
9 |
7,276,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Mmp13
|
UTSW |
9 |
7,274,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6102:Mmp13
|
UTSW |
9 |
7,276,688 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6693:Mmp13
|
UTSW |
9 |
7,280,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6789:Mmp13
|
UTSW |
9 |
7,272,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7310:Mmp13
|
UTSW |
9 |
7,280,880 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7728:Mmp13
|
UTSW |
9 |
7,274,004 (GRCm39) |
missense |
probably benign |
|
|
R8041:Mmp13
|
UTSW |
9 |
7,280,865 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8314:Mmp13
|
UTSW |
9 |
7,272,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Mmp13
|
UTSW |
9 |
7,276,636 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8755:Mmp13
|
UTSW |
9 |
7,277,996 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9365:Mmp13
|
UTSW |
9 |
7,277,921 (GRCm39) |
missense |
probably benign |
0.02 |
|
T0722:Mmp13
|
UTSW |
9 |
7,280,857 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1177:Mmp13
|
UTSW |
9 |
7,280,200 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Mmp13
|
UTSW |
9 |
7,277,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCACACACTTGGTAGTAGCTAAG -3'
(R):5'- TCCAGCCACGCATAGTCATATAG -3'
Sequencing Primer
(F):5'- CTCCAATCTTAGCTGCAGT -3'
(R):5'- GCCACGCATAGTCATATAGATACTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation