Incidental Mutation 'R7510:Mmp1a'
| ID |
582036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp1a
|
| Ensembl Gene |
ENSMUSG00000043089 |
| Gene Name |
matrix metallopeptidase 1a (interstitial collagenase) |
| Synonyms |
Mcol-A |
| MMRRC Submission |
045583-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.328)
|
| Stock # |
R7510 (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: 99.5%
- 20x: 98.0%
|
| Validation Efficiency |
97% (65/67) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b1 |
C |
T |
10: 98,829,758 (GRCm39) |
R320C |
probably benign |
Het |
| Bend4 |
A |
G |
5: 67,584,727 (GRCm39) |
F66L |
unknown |
Het |
| Brca2 |
T |
C |
5: 150,460,156 (GRCm39) |
V477A |
possibly damaging |
Het |
| Brms1l |
A |
T |
12: 55,892,107 (GRCm39) |
K134* |
probably null |
Het |
| Catsper1 |
A |
T |
19: 5,389,578 (GRCm39) |
T498S |
probably benign |
Het |
| Ccdc177 |
C |
A |
12: 80,804,457 (GRCm39) |
V606L |
unknown |
Het |
| D030056L22Rik |
G |
T |
19: 18,690,853 (GRCm39) |
A56S |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,869,975 (GRCm39) |
N815S |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Fancf |
A |
G |
7: 51,511,953 (GRCm39) |
V17A |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,776,948 (GRCm39) |
H361Q |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,043,333 (GRCm39) |
S293P |
probably damaging |
Het |
| Ghsr |
A |
T |
3: 27,426,523 (GRCm39) |
D193V |
probably benign |
Het |
| Gm14403 |
T |
A |
2: 177,200,403 (GRCm39) |
N116K |
probably benign |
Het |
| Gpr31b |
A |
G |
17: 13,270,557 (GRCm39) |
L204P |
probably damaging |
Het |
| Hexim1 |
A |
G |
11: 103,008,067 (GRCm39) |
E107G |
probably benign |
Het |
| Hspa14 |
T |
C |
2: 3,499,159 (GRCm39) |
S212G |
probably benign |
Het |
| Il18r1 |
T |
A |
1: 40,514,035 (GRCm39) |
H80Q |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,308,013 (GRCm39) |
T267A |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,042,268 (GRCm39) |
H146Q |
possibly damaging |
Het |
| Larp4 |
T |
C |
15: 99,891,258 (GRCm39) |
F228L |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,659,712 (GRCm39) |
V1288E |
probably damaging |
Het |
| Madd |
T |
C |
2: 91,008,321 (GRCm39) |
T194A |
possibly damaging |
Het |
| Mlana |
G |
A |
19: 29,682,072 (GRCm39) |
G42S |
probably benign |
Het |
| Mlxipl |
A |
G |
5: 135,161,972 (GRCm39) |
E548G |
possibly damaging |
Het |
| Mmab |
A |
T |
5: 114,573,283 (GRCm39) |
C228S |
probably benign |
Het |
| Nrf1 |
C |
T |
6: 30,151,633 (GRCm39) |
T490I |
possibly damaging |
Het |
| Numbl |
A |
G |
7: 26,971,412 (GRCm39) |
|
probably null |
Het |
| Or12e13 |
T |
A |
2: 87,663,872 (GRCm39) |
I163K |
probably damaging |
Het |
| Or13c7 |
A |
G |
4: 43,854,482 (GRCm39) |
T58A |
probably benign |
Het |
| Or5bw2 |
C |
T |
7: 6,572,960 (GRCm39) |
|
probably benign |
Het |
| Or5v1b |
T |
A |
17: 37,841,480 (GRCm39) |
I204N |
probably damaging |
Het |
| Or6c3b |
G |
T |
10: 129,527,789 (GRCm39) |
N40K |
probably damaging |
Het |
| Or9g8 |
T |
A |
2: 85,607,153 (GRCm39) |
V75D |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,818,947 (GRCm39) |
D96N |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,645 (GRCm39) |
Y584H |
probably damaging |
Het |
| Pde7b |
T |
C |
10: 20,288,761 (GRCm39) |
D310G |
possibly damaging |
Het |
| Plin5 |
T |
A |
17: 56,420,975 (GRCm39) |
H230L |
probably damaging |
Het |
| Ppp1r13l |
A |
C |
7: 19,102,726 (GRCm39) |
E47A |
possibly damaging |
Het |
| Prdm5 |
C |
T |
6: 65,904,976 (GRCm39) |
H536Y |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,353,451 (GRCm39) |
R728G |
possibly damaging |
Het |
| Prkca |
A |
T |
11: 107,874,820 (GRCm39) |
V374E |
possibly damaging |
Het |
| Prss3 |
A |
T |
6: 41,352,044 (GRCm39) |
L73* |
probably null |
Het |
| Prss51 |
G |
A |
14: 64,333,489 (GRCm39) |
D33N |
probably damaging |
Het |
| Rfwd3 |
A |
G |
8: 112,006,659 (GRCm39) |
V479A |
probably damaging |
Het |
| Rpl36a-ps1 |
G |
A |
14: 99,231,666 (GRCm39) |
T24I |
probably benign |
Het |
| Rps6ka5 |
T |
C |
12: 100,582,327 (GRCm39) |
I182V |
possibly damaging |
Het |
| Saa2 |
T |
A |
7: 46,402,933 (GRCm39) |
D61E |
probably damaging |
Het |
| Samd3 |
A |
T |
10: 26,106,006 (GRCm39) |
I22F |
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,800,057 (GRCm39) |
P403L |
probably damaging |
Het |
| Sap130 |
A |
G |
18: 31,844,268 (GRCm39) |
T813A |
probably damaging |
Het |
| Scfd2 |
A |
G |
5: 74,372,988 (GRCm39) |
F629S |
probably damaging |
Het |
| Sec61a1 |
A |
T |
6: 88,489,585 (GRCm39) |
F119I |
probably benign |
Het |
| Serpinb9 |
T |
A |
13: 33,194,768 (GRCm39) |
F175I |
probably damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,092,477 (GRCm39) |
C966F |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,127,693 (GRCm39) |
V169A |
probably benign |
Het |
| Synj1 |
A |
G |
16: 90,735,565 (GRCm39) |
S1463P |
probably benign |
Het |
| Tfec |
T |
A |
6: 16,835,232 (GRCm39) |
H182L |
probably benign |
Het |
| Tigd5 |
T |
C |
15: 75,782,268 (GRCm39) |
V210A |
probably benign |
Het |
| Tssc4 |
G |
A |
7: 142,623,718 (GRCm39) |
E9K |
possibly damaging |
Het |
| Txk |
C |
G |
5: 72,893,726 (GRCm39) |
C18S |
unknown |
Het |
| Uaca |
G |
A |
9: 60,757,487 (GRCm39) |
|
probably null |
Het |
| Vmn2r1 |
A |
C |
3: 63,993,922 (GRCm39) |
K89N |
probably damaging |
Het |
| Zfp160 |
G |
A |
17: 21,246,655 (GRCm39) |
E402K |
probably benign |
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 |
|
|
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 |
|
|
R8497: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 |
2019-10-17 |
Incidental Mutation