Incidental Mutation 'R8884:Mmp1a'
| ID |
677174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp1a
|
| Ensembl Gene |
ENSMUSG00000043089 |
| Gene Name |
matrix metallopeptidase 1a (interstitial collagenase) |
| Synonyms |
Mcol-A |
| MMRRC Submission |
068690-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
R8884 (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: 98.2%
|
| Validation Efficiency |
98% (65/66) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,885,354 (GRCm39) |
F168Y |
probably damaging |
Het |
| 4932438H23Rik |
T |
C |
16: 90,852,737 (GRCm39) |
Y133C |
probably damaging |
Het |
| Aasdh |
A |
G |
5: 77,039,641 (GRCm39) |
S223P |
possibly damaging |
Het |
| Abca8a |
T |
C |
11: 109,964,941 (GRCm39) |
D453G |
possibly damaging |
Het |
| Acsl6 |
T |
A |
11: 54,236,728 (GRCm39) |
F541I |
probably damaging |
Het |
| Agfg1 |
A |
T |
1: 82,860,110 (GRCm39) |
K326* |
probably null |
Het |
| Aldh1l2 |
T |
C |
10: 83,344,541 (GRCm39) |
N448S |
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,473,355 (GRCm39) |
K118E |
possibly damaging |
Het |
| Atp9b |
T |
A |
18: 80,838,562 (GRCm39) |
T451S |
|
Het |
| B4galt6 |
A |
T |
18: 20,822,072 (GRCm39) |
N307K |
probably benign |
Het |
| Cacna1s |
G |
A |
1: 136,042,981 (GRCm39) |
M1569I |
probably benign |
Het |
| Cacng6 |
C |
T |
7: 3,478,984 (GRCm39) |
T121I |
probably damaging |
Het |
| Cdc5l |
C |
A |
17: 45,744,467 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,027,860 (GRCm39) |
D535V |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,883,946 (GRCm39) |
F228L |
possibly damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,719,757 (GRCm39) |
D404E |
probably benign |
Het |
| Commd8 |
G |
A |
5: 72,325,514 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
T |
A |
19: 43,954,615 (GRCm39) |
Q337L |
possibly damaging |
Het |
| Dctn6 |
T |
C |
8: 34,557,933 (GRCm39) |
T180A |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,447,553 (GRCm39) |
E1180G |
possibly damaging |
Het |
| Dock4 |
T |
A |
12: 40,856,884 (GRCm39) |
L1239Q |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,556,550 (GRCm39) |
I469T |
probably benign |
Het |
| Enpep |
A |
T |
3: 129,115,052 (GRCm39) |
I240N |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,941,280 (GRCm39) |
T1337I |
probably damaging |
Het |
| Fbxw13 |
T |
A |
9: 109,010,469 (GRCm39) |
M390L |
probably benign |
Het |
| Fgr |
C |
T |
4: 132,713,609 (GRCm39) |
P46S |
probably benign |
Het |
| Galnt1 |
T |
A |
18: 24,400,641 (GRCm39) |
M249K |
probably benign |
Het |
| Gm40460 |
A |
T |
7: 141,794,555 (GRCm39) |
C87* |
probably null |
Het |
| Hcn4 |
C |
T |
9: 58,760,705 (GRCm39) |
R417C |
unknown |
Het |
| Insr |
T |
C |
8: 3,205,679 (GRCm39) |
N1370S |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,414,089 (GRCm39) |
E722K |
|
Het |
| Larp6 |
G |
A |
9: 60,620,682 (GRCm39) |
G65E |
|
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,555,496 (GRCm39) |
T3599I |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,403,156 (GRCm39) |
F706L |
unknown |
Het |
| Nbea |
A |
T |
3: 55,712,720 (GRCm39) |
M2119K |
probably benign |
Het |
| Or13a18 |
C |
T |
7: 140,190,616 (GRCm39) |
P171L |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,224 (GRCm39) |
T53S |
probably benign |
Het |
| Paip1 |
G |
A |
13: 119,574,553 (GRCm39) |
V83I |
probably damaging |
Het |
| Pdcd1lg2 |
G |
T |
19: 29,423,318 (GRCm39) |
|
probably null |
Het |
| Pde7a |
G |
A |
3: 19,281,858 (GRCm39) |
A464V |
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,634,213 (GRCm39) |
F155L |
probably damaging |
Het |
| Pimreg |
A |
G |
11: 71,936,513 (GRCm39) |
D192G |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,282,193 (GRCm39) |
D320G |
probably damaging |
Het |
| Rgs7 |
A |
G |
1: 174,980,730 (GRCm39) |
V98A |
probably benign |
Het |
| Ric3 |
C |
T |
7: 108,637,688 (GRCm39) |
G356D |
probably benign |
Het |
| Rsph4a |
T |
C |
10: 33,781,840 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,794,152 (GRCm39) |
T942I |
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,622,910 (GRCm39) |
T214A |
probably damaging |
Het |
| Sipa1l1 |
T |
G |
12: 82,409,871 (GRCm39) |
V595G |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,119,486 (GRCm39) |
H4508L |
probably damaging |
Het |
| Spta1 |
G |
T |
1: 174,045,254 (GRCm39) |
|
probably null |
Het |
| Ssbp2 |
A |
G |
13: 91,836,989 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
G |
10: 5,181,822 (GRCm39) |
Q4171P |
possibly damaging |
Het |
| Tgfb2 |
G |
A |
1: 186,364,907 (GRCm39) |
T232I |
probably damaging |
Het |
| Tmem175 |
A |
G |
5: 108,794,327 (GRCm39) |
S486G |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,821,657 (GRCm39) |
V466A |
probably benign |
Het |
| Treh |
C |
G |
9: 44,595,800 (GRCm39) |
|
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,854,696 (GRCm39) |
S8G |
unknown |
Het |
| Ttc32 |
T |
A |
12: 9,088,083 (GRCm39) |
D103E |
probably benign |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,458 (GRCm39) |
L68P |
probably damaging |
Het |
| Vmn2r37 |
T |
G |
7: 9,218,916 (GRCm39) |
L489F |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,892,734 (GRCm39) |
T802S |
probably damaging |
Het |
| Wsb2 |
T |
A |
5: 117,508,769 (GRCm39) |
F68I |
probably benign |
Het |
| Zbtb8os |
T |
C |
4: 129,236,924 (GRCm39) |
V113A |
probably benign |
Het |
| Zfp354a |
A |
T |
11: 50,950,805 (GRCm39) |
|
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 |
|
|
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 |
|
|
R8497: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 |
2021-08-02 |
Incidental Mutation