Incidental Mutation 'RF004:Mmp1a'
| ID |
602695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp1a
|
| Ensembl Gene |
ENSMUSG00000043089 |
| Gene Name |
matrix metallopeptidase 1a (interstitial collagenase) |
| Synonyms |
Mcol-A |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.328)
|
| Stock # |
RF004 (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: 99.8%
- 3x: 99.6%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
100% (34/34) |
| 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 |
|---|
| 1110059E24Rik |
T |
A |
19: 21,575,645 (GRCm39) |
H126L |
probably benign |
Het |
| 4930407I10Rik |
A |
T |
15: 81,943,550 (GRCm39) |
Q54L |
possibly damaging |
Het |
| 4930433I11Rik |
AACC |
A |
7: 40,642,479 (GRCm39) |
|
probably benign |
Het |
| Adora2a |
A |
T |
10: 75,168,988 (GRCm39) |
T151S |
probably benign |
Het |
| Ankhd1 |
GCGGCG |
GCGGCGTCGGCG |
18: 36,693,963 (GRCm39) |
|
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,612,411 (GRCm39) |
K1248E |
possibly damaging |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| Arl11 |
T |
C |
14: 61,548,304 (GRCm39) |
V38A |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,479,561 (GRCm39) |
N726Y |
probably damaging |
Het |
| Bcat1 |
T |
C |
6: 144,953,349 (GRCm39) |
K413R |
probably benign |
Het |
| Cd244a |
C |
G |
1: 171,405,490 (GRCm39) |
Q292E |
probably benign |
Het |
| Chp1 |
T |
A |
2: 119,411,195 (GRCm39) |
D123E |
probably damaging |
Het |
| Cpeb4 |
ACTCT |
ACTCTCT |
11: 31,877,634 (GRCm39) |
|
probably benign |
Het |
| Ddx6 |
A |
G |
9: 44,535,789 (GRCm39) |
T173A |
possibly damaging |
Het |
| Dlg2 |
T |
A |
7: 90,501,885 (GRCm39) |
C66S |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,328,013 (GRCm39) |
Q3370L |
probably benign |
Het |
| Dnmt1 |
GCACAGTTCCTACCTCGTT |
GCACAGTTCCTACCTCGTTTTGGGGGCGGAACACAGTTCCTACCTCGTT |
9: 20,821,423 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,436,244 (GRCm39) |
V2420A |
probably benign |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,118 (GRCm39) |
|
probably benign |
Het |
| Igkv6-25 |
TTGACGGA |
T |
6: 70,192,647 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
G |
A |
7: 80,370,623 (GRCm39) |
A1582V |
probably benign |
Het |
| Lmnb1 |
T |
C |
18: 56,864,046 (GRCm39) |
I217T |
possibly damaging |
Het |
| Mamld1 |
CAG |
CAGTAG |
X: 70,162,437 (GRCm39) |
|
probably null |
Het |
| Map2k2 |
A |
T |
10: 80,951,002 (GRCm39) |
H149L |
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,390 (GRCm39) |
|
probably benign |
Het |
| Nxph2 |
G |
A |
2: 23,290,080 (GRCm39) |
R144Q |
probably damaging |
Het |
| Or2t48 |
CA |
C |
11: 58,419,983 (GRCm39) |
|
probably null |
Het |
| Or51f1e |
T |
TTAG |
7: 102,747,516 (GRCm39) |
|
probably null |
Het |
| Or51f1e |
GTTAT |
GTTATTAT |
7: 102,747,512 (GRCm39) |
|
|
Het |
| Or51f1e |
AT |
ATTCT |
7: 102,747,515 (GRCm39) |
|
probably benign |
Het |
| Or51q1 |
TCC |
TCCC |
7: 103,629,110 (GRCm39) |
|
probably null |
Het |
| Or52n20 |
A |
G |
7: 104,320,248 (GRCm39) |
E113G |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,760,114 (GRCm39) |
F235L |
probably benign |
Het |
| Padi4 |
A |
T |
4: 140,487,269 (GRCm39) |
V211E |
probably damaging |
Het |
| Prdm10 |
A |
C |
9: 31,270,422 (GRCm39) |
D902A |
probably damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,398 (GRCm39) |
D171G |
probably damaging |
Het |
| Rasal3 |
A |
T |
17: 32,610,081 (GRCm39) |
N1035K |
probably damaging |
Het |
| Rassf6 |
GGTCCTGTAGAGCAATGGGGATTC |
GGTCCTGTAGAGCAATGGGGATTCTGCATCACTCATTGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,778 (GRCm39) |
|
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,388,931 (GRCm39) |
V320A |
probably damaging |
Het |
| S1pr1 |
A |
T |
3: 115,506,536 (GRCm39) |
Y19* |
probably null |
Het |
| Slc22a16 |
A |
C |
10: 40,479,642 (GRCm39) |
L571F |
possibly damaging |
Het |
| Smarca2 |
CAGC |
CAGCCCAAGC |
19: 26,608,420 (GRCm39) |
|
probably benign |
Het |
| Ssx2ip |
A |
T |
3: 146,132,195 (GRCm39) |
K219* |
probably null |
Het |
| Trav15-2-dv6-2 |
GAA |
GAATAA |
14: 53,887,211 (GRCm39) |
|
probably null |
Het |
| Trav15-2-dv6-2 |
GGGAG |
GGGAGGAG |
14: 53,887,207 (GRCm39) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
AAG |
AAGCAG |
14: 53,887,212 (GRCm39) |
|
probably benign |
Het |
| Tsen15 |
A |
G |
1: 152,259,470 (GRCm39) |
V63A |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
| Usp54 |
T |
A |
14: 20,611,368 (GRCm39) |
E1149D |
possibly damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,220,686 (GRCm39) |
S392R |
probably damaging |
Het |
| Wdr97 |
GAGGAGGA |
G |
15: 76,247,373 (GRCm39) |
|
probably null |
Het |
| Zfp663 |
G |
T |
2: 165,200,363 (GRCm39) |
H72Q |
probably benign |
Het |
| Zfp683 |
TGTGG |
TGTGGTGG |
4: 133,786,185 (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 |
|
|
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 |
|
|
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 |
2019-12-04 |
Incidental Mutation