Incidental Mutation 'R8497:Mmp1a'
| ID |
658324 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp1a
|
| Ensembl Gene |
ENSMUSG00000043089 |
| Gene Name |
matrix metallopeptidase 1a (interstitial collagenase) |
| Synonyms |
Mcol-A |
| MMRRC Submission |
067939-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
R8497 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7464141-7476857 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
TG to TGG
at 7465083 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034492]
[ENSMUST00000217651]
|
| AlphaFold |
Q9EPL5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034492
|
| SMART Domains |
Protein: ENSMUSP00000034492
Gene: ENSMUSG00000043089
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
25 |
84 |
8.2e-14 |
PFAM |
|
ZnMc
|
97 |
259 |
2.99e-44 |
SMART |
|
HX
|
281 |
323 |
8.12e-6 |
SMART |
|
HX
|
325 |
369 |
7.81e-8 |
SMART |
|
HX
|
374 |
421 |
5.82e-16 |
SMART |
|
HX
|
423 |
463 |
2.18e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217651
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (51/51) |
| 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. Mice lacking the encoded protein exhibit decreased susceptibility to chemical carcinogen-induced lung tumor development and angiogenesis. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced inflammatory response following chemical induction of tumors and male mice exhibit fewer large induced tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,923,250 (GRCm39) |
H509Y |
probably benign |
Het |
| Afm |
A |
T |
5: 90,699,202 (GRCm39) |
|
probably null |
Het |
| Apc |
G |
A |
18: 34,446,083 (GRCm39) |
C975Y |
possibly damaging |
Het |
| Ash1l |
G |
T |
3: 88,914,951 (GRCm39) |
M1860I |
probably benign |
Het |
| Bdkrb1 |
C |
T |
12: 105,570,463 (GRCm39) |
Q10* |
probably null |
Het |
| Bphl |
A |
G |
13: 34,221,706 (GRCm39) |
K21E |
possibly damaging |
Het |
| Cadps2 |
T |
C |
6: 23,355,918 (GRCm39) |
N837D |
probably benign |
Het |
| Cat |
C |
G |
2: 103,287,221 (GRCm39) |
A470P |
probably damaging |
Het |
| Cdc34 |
G |
T |
10: 79,520,845 (GRCm39) |
D11Y |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,387,320 (GRCm39) |
E1936G |
probably damaging |
Het |
| Cnot6 |
A |
T |
11: 49,566,191 (GRCm39) |
N501K |
possibly damaging |
Het |
| Cyth3 |
A |
C |
5: 143,678,328 (GRCm39) |
D44A |
probably benign |
Het |
| Dchs1 |
C |
T |
7: 105,408,168 (GRCm39) |
G1888D |
probably damaging |
Het |
| Ffar1 |
T |
G |
7: 30,560,334 (GRCm39) |
I188L |
probably benign |
Het |
| Fhip1b |
G |
T |
7: 105,030,396 (GRCm39) |
D820E |
probably damaging |
Het |
| Gpr17 |
A |
G |
18: 32,080,173 (GRCm39) |
Y297H |
probably damaging |
Het |
| H2-M10.5 |
A |
C |
17: 37,084,729 (GRCm39) |
E151A |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,455,990 (GRCm39) |
R5310K |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,313,357 (GRCm39) |
L3522P |
possibly damaging |
Het |
| Hs2st1 |
T |
G |
3: 144,140,452 (GRCm39) |
T290P |
probably damaging |
Het |
| Il5ra |
G |
A |
6: 106,715,066 (GRCm39) |
L231F |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,615,805 (GRCm39) |
C529S |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,875,179 (GRCm39) |
R376S |
probably benign |
Het |
| Lrrcc1 |
A |
G |
3: 14,605,044 (GRCm39) |
D138G |
possibly damaging |
Het |
| Mat1a |
C |
T |
14: 40,843,851 (GRCm39) |
R357W |
probably damaging |
Het |
| Mtss2 |
T |
C |
8: 111,465,222 (GRCm39) |
V492A |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,752,771 (GRCm39) |
V330A |
probably damaging |
Het |
| Neu3 |
A |
T |
7: 99,472,342 (GRCm39) |
|
probably null |
Het |
| Nfx1 |
A |
G |
4: 40,976,968 (GRCm39) |
D214G |
possibly damaging |
Het |
| Or2a14 |
T |
C |
6: 43,130,818 (GRCm39) |
L193P |
probably damaging |
Het |
| Or2y17 |
G |
A |
11: 49,231,721 (GRCm39) |
D121N |
probably damaging |
Het |
| Or4f14 |
T |
A |
2: 111,742,964 (GRCm39) |
I104F |
possibly damaging |
Het |
| Or5b104 |
T |
C |
19: 13,072,707 (GRCm39) |
T102A |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,582,349 (GRCm39) |
H485L |
probably benign |
Het |
| Pdss2 |
A |
C |
10: 43,289,521 (GRCm39) |
K342T |
possibly damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,647,570 (GRCm39) |
S254P |
probably damaging |
Het |
| Prelid1 |
A |
G |
13: 55,470,833 (GRCm39) |
D87G |
probably damaging |
Het |
| Prkg1 |
C |
A |
19: 31,279,709 (GRCm39) |
C190F |
probably damaging |
Het |
| Psmb5 |
A |
G |
14: 54,851,837 (GRCm39) |
S116P |
possibly damaging |
Het |
| Rassf6 |
A |
G |
5: 90,779,391 (GRCm39) |
V14A |
possibly damaging |
Het |
| Ripk1 |
T |
C |
13: 34,211,934 (GRCm39) |
S415P |
probably damaging |
Het |
| Rnft1 |
A |
T |
11: 86,386,132 (GRCm39) |
K344* |
probably null |
Het |
| Sacs |
G |
A |
14: 61,429,702 (GRCm39) |
R587Q |
probably benign |
Het |
| Skp2 |
A |
T |
15: 9,127,971 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
T |
C |
13: 59,848,988 (GRCm39) |
K1047E |
possibly damaging |
Het |
| Spopfm2 |
T |
A |
3: 94,083,119 (GRCm39) |
I231F |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,245,518 (GRCm39) |
T1098I |
possibly damaging |
Het |
| Tcf20 |
A |
G |
15: 82,740,152 (GRCm39) |
M433T |
probably benign |
Het |
| Tsen54 |
T |
C |
11: 115,713,410 (GRCm39) |
F438L |
probably damaging |
Het |
| Utp23 |
C |
T |
15: 51,745,614 (GRCm39) |
T144I |
probably damaging |
Het |
| Vmn2r105 |
T |
C |
17: 20,455,134 (GRCm39) |
M1V |
probably null |
Het |
| Wdfy4 |
C |
T |
14: 32,688,356 (GRCm39) |
V2926M |
probably damaging |
Het |
| Zfp407 |
T |
C |
18: 84,578,021 (GRCm39) |
K1031E |
probably damaging |
Het |
|
| Other mutations in Mmp1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Mmp1a
|
APN |
9 |
7,476,260 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02179:Mmp1a
|
APN |
9 |
7,464,273 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02738:Mmp1a
|
APN |
9 |
7,464,301 (GRCm39) |
splice site |
probably benign |
|
|
IGL02984:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
IGL02988:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
IGL02991:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
IGL03014:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
IGL03050:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
IGL03054:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
IGL03055:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
IGL03097:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
IGL03098:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
IGL03134:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
IGL03138:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
IGL03147:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R0095:Mmp1a
|
UTSW |
9 |
7,465,621 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0095:Mmp1a
|
UTSW |
9 |
7,465,621 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1422:Mmp1a
|
UTSW |
9 |
7,464,298 (GRCm39) |
splice site |
probably null |
|
|
R1663:Mmp1a
|
UTSW |
9 |
7,465,657 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1801:Mmp1a
|
UTSW |
9 |
7,475,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2171:Mmp1a
|
UTSW |
9 |
7,475,357 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3415:Mmp1a
|
UTSW |
9 |
7,464,869 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3901:Mmp1a
|
UTSW |
9 |
7,475,346 (GRCm39) |
makesense |
probably null |
|
|
R4175:Mmp1a
|
UTSW |
9 |
7,467,236 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5406:Mmp1a
|
UTSW |
9 |
7,467,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6462:Mmp1a
|
UTSW |
9 |
7,467,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7016:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R7039:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R7098:Mmp1a
|
UTSW |
9 |
7,475,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7144:Mmp1a
|
UTSW |
9 |
7,475,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Mmp1a
|
UTSW |
9 |
7,476,018 (GRCm39) |
nonsense |
probably null |
|
|
R7284:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R7289:Mmp1a
|
UTSW |
9 |
7,467,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R7510:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R7537:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R7574:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R7626:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R7755:Mmp1a
|
UTSW |
9 |
7,467,005 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7789:Mmp1a
|
UTSW |
9 |
7,475,266 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7791:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R7900:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R8000:Mmp1a
|
UTSW |
9 |
7,476,215 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8009:Mmp1a
|
UTSW |
9 |
7,467,236 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8039:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R8072:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R8884:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R8890:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R9146:Mmp1a
|
UTSW |
9 |
7,464,997 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9213:Mmp1a
|
UTSW |
9 |
7,475,364 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9425:Mmp1a
|
UTSW |
9 |
7,476,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R9588:Mmp1a
|
UTSW |
9 |
7,467,225 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9599:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
R9612:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
RF004:Mmp1a
|
UTSW |
9 |
7,465,083 (GRCm38) |
makesense |
probably null |
|
|
X0020:Mmp1a
|
UTSW |
9 |
7,465,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mmp1a
|
UTSW |
9 |
7,467,034 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Z1177:Mmp1a
|
UTSW |
9 |
7,464,230 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
|
| Posted On |
2021-01-18 |
Incidental Mutation