Incidental Mutation 'R9146:Mmp1a'
| ID |
694648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp1a
|
| Ensembl Gene |
ENSMUSG00000043089 |
| Gene Name |
matrix metallopeptidase 1a (interstitial collagenase) |
| Synonyms |
Mcol-A |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
R9146 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7464141-7476857 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7464997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 77
(D77G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034492]
[ENSMUST00000217651]
|
| AlphaFold |
Q9EPL5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034492
AA Change: D77G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034492
Gene: ENSMUSG00000043089
AA Change: D77G
| 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 damaging
Transcript: ENSMUST00000217651
AA Change: D77G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9112 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (54/55) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
G |
A |
5: 137,289,077 (GRCm39) |
G261D |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,561,291 (GRCm39) |
T5408S |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,359,200 (GRCm39) |
N362D |
probably benign |
Het |
| Aff4 |
A |
G |
11: 53,298,963 (GRCm39) |
N956S |
probably benign |
Het |
| Alg10b |
A |
G |
15: 90,112,401 (GRCm39) |
E415G |
probably damaging |
Het |
| Ate1 |
T |
C |
7: 130,069,022 (GRCm39) |
Y415C |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,207,005 (GRCm39) |
D280G |
probably benign |
Het |
| Catsperg1 |
G |
C |
7: 28,909,912 (GRCm39) |
P72R |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,377,665 (GRCm39) |
E1565G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,048,832 (GRCm39) |
Y2290F |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,527,344 (GRCm39) |
H230L |
|
Het |
| Efhb |
A |
G |
17: 53,769,644 (GRCm39) |
S222P |
probably benign |
Het |
| Emilin2 |
G |
A |
17: 71,581,331 (GRCm39) |
T465M |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,849,635 (GRCm39) |
Y1431* |
probably null |
Het |
| Gm10912 |
T |
C |
2: 103,897,053 (GRCm39) |
V64A |
possibly damaging |
Het |
| Gpat2 |
T |
C |
2: 127,273,206 (GRCm39) |
S197P |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,924,571 (GRCm39) |
Y452C |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,487,097 (GRCm39) |
I3364T |
probably benign |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,474,141 (GRCm39) |
T4767M |
probably benign |
Het |
| Hspa4l |
A |
G |
3: 40,736,101 (GRCm39) |
D595G |
probably benign |
Het |
| Kdm1a |
G |
T |
4: 136,329,739 (GRCm39) |
T53K |
unknown |
Het |
| Kirrel1 |
T |
C |
3: 87,003,015 (GRCm39) |
D126G |
probably damaging |
Het |
| Kit |
T |
A |
5: 75,810,305 (GRCm39) |
D822E |
probably damaging |
Het |
| Kiz |
C |
T |
2: 146,705,740 (GRCm39) |
T100M |
probably benign |
Het |
| Kmt2a |
T |
A |
9: 44,725,938 (GRCm39) |
K3663* |
probably null |
Het |
| Krt8 |
T |
A |
15: 101,907,370 (GRCm39) |
I238F |
probably damaging |
Het |
| Ky |
C |
T |
9: 102,419,405 (GRCm39) |
P471S |
|
Het |
| Lca5l |
T |
C |
16: 95,960,998 (GRCm39) |
E493G |
probably damaging |
Het |
| Lrrc2 |
C |
T |
9: 110,808,582 (GRCm39) |
T273I |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,869,303 (GRCm39) |
S31P |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,039,200 (GRCm39) |
C290* |
probably null |
Het |
| Nfe2l3 |
G |
T |
6: 51,410,172 (GRCm39) |
A96S |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,011,854 (GRCm39) |
D624G |
probably damaging |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or52n2 |
T |
A |
7: 104,542,452 (GRCm39) |
I128F |
probably damaging |
Het |
| Or6c7 |
T |
C |
10: 129,323,392 (GRCm39) |
V171A |
possibly damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,334,351 (GRCm39) |
A222T |
probably benign |
Het |
| Piezo1 |
G |
A |
8: 123,227,002 (GRCm39) |
H420Y |
|
Het |
| Pik3r1 |
C |
A |
13: 101,825,136 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
T |
A |
2: 135,182,615 (GRCm39) |
Y642N |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,184,252 (GRCm39) |
H1538L |
probably benign |
Het |
| Raph1 |
A |
G |
1: 60,558,137 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,334,499 (GRCm39) |
F3237S |
|
Het |
| Sctr |
A |
G |
1: 119,982,010 (GRCm39) |
D286G |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 178,920,529 (GRCm39) |
S202P |
probably damaging |
Het |
| Ssh2 |
G |
A |
11: 77,328,502 (GRCm39) |
G356E |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,784,492 (GRCm39) |
S629R |
probably benign |
Het |
| Stc2 |
A |
G |
11: 31,317,847 (GRCm39) |
V58A |
probably damaging |
Het |
| Tcerg1l |
T |
A |
7: 137,831,588 (GRCm39) |
D463V |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,389,745 (GRCm39) |
V259A |
possibly damaging |
Het |
| Tmem248 |
A |
G |
5: 130,260,851 (GRCm39) |
T139A |
probably benign |
Het |
| Trip12 |
G |
T |
1: 84,771,881 (GRCm39) |
A89E |
possibly damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,366,647 (GRCm39) |
V96I |
probably benign |
Het |
| Vmn2r79 |
C |
T |
7: 86,650,681 (GRCm39) |
Q156* |
probably null |
Het |
| Zfp831 |
C |
A |
2: 174,487,461 (GRCm39) |
T712N |
possibly damaging |
Het |
| Zfy1 |
A |
T |
Y: 726,033 (GRCm39) |
H577Q |
possibly damaging |
Het |
| Zscan4-ps2 |
T |
G |
7: 11,251,679 (GRCm39) |
S238R |
possibly 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 |
|
|
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 |
|
|
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 |
PCR Primer
(F):5'- ATCTTCAGATCACCTGGGCC -3'
(R):5'- GACACAGTGGATCTTGTTTCCTTC -3'
Sequencing Primer
(F):5'- GTACTCTCTGCCAGCAGTAAGTG -3'
(R):5'- CTGTCCCAGTGGTATAGATATGCC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation