Incidental Mutation 'R1801:Mmp1a'
| ID |
203145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp1a
|
| Ensembl Gene |
ENSMUSG00000043089 |
| Gene Name |
matrix metallopeptidase 1a (interstitial collagenase) |
| Synonyms |
Mcol-A |
| MMRRC Submission |
039831-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
R1801 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7464141-7476857 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 7475391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 387
(Y387N)
|
| 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: Y387N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034492
Gene: ENSMUSG00000043089
AA Change: Y387N
| 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 |
unknown
Transcript: ENSMUST00000217651
AA Change: H387Q
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.5%
|
| Validation Efficiency |
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,230 (GRCm39) |
E362G |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,157,637 (GRCm39) |
M1307V |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,078,954 (GRCm39) |
C423* |
probably null |
Het |
| Adamts9 |
A |
G |
6: 92,840,357 (GRCm39) |
V1142A |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,082,096 (GRCm39) |
N525S |
probably damaging |
Het |
| Bpifa2 |
T |
C |
2: 153,853,424 (GRCm39) |
|
probably null |
Het |
| C7 |
C |
T |
15: 5,041,503 (GRCm39) |
V468I |
possibly damaging |
Het |
| Carf |
A |
T |
1: 60,180,664 (GRCm39) |
H362L |
possibly damaging |
Het |
| Ccdc171 |
A |
C |
4: 83,465,132 (GRCm39) |
I37L |
probably benign |
Het |
| Ccdc182 |
T |
C |
11: 88,185,016 (GRCm39) |
L32P |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,711,825 (GRCm39) |
D1678V |
possibly damaging |
Het |
| Col7a1 |
A |
T |
9: 108,790,065 (GRCm39) |
Y920F |
unknown |
Het |
| Cpsf3 |
T |
C |
12: 21,363,791 (GRCm39) |
V627A |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,941 (GRCm39) |
M640T |
probably damaging |
Het |
| Ddi2 |
T |
C |
4: 141,411,283 (GRCm39) |
D543G |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,123 (GRCm39) |
N2972D |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,813,857 (GRCm39) |
D304G |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,026,705 (GRCm39) |
V1232A |
possibly damaging |
Het |
| Ezr |
T |
C |
17: 7,009,771 (GRCm39) |
T358A |
possibly damaging |
Het |
| Filip1 |
A |
G |
9: 79,723,128 (GRCm39) |
S1164P |
probably damaging |
Het |
| Gmip |
T |
C |
8: 70,267,127 (GRCm39) |
V341A |
probably benign |
Het |
| Gnb3 |
A |
C |
6: 124,812,599 (GRCm39) |
F286V |
probably benign |
Het |
| Gpatch2 |
T |
A |
1: 186,958,028 (GRCm39) |
S128T |
probably benign |
Het |
| Gpr87 |
T |
C |
3: 59,086,813 (GRCm39) |
R231G |
possibly damaging |
Het |
| Hip1r |
G |
A |
5: 124,136,871 (GRCm39) |
R613Q |
probably benign |
Het |
| Hsd3b7 |
T |
C |
7: 127,402,206 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Il1rap |
A |
T |
16: 26,517,625 (GRCm39) |
D275V |
probably damaging |
Het |
| Il4 |
G |
T |
11: 53,509,365 (GRCm39) |
H23Q |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,809,053 (GRCm39) |
Y749C |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,506,578 (GRCm39) |
K275R |
probably null |
Het |
| Klhl12 |
G |
T |
1: 134,416,808 (GRCm39) |
R510L |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,628,689 (GRCm39) |
Y345C |
probably damaging |
Het |
| Med15 |
T |
C |
16: 17,498,599 (GRCm39) |
T98A |
possibly damaging |
Het |
| Myrf |
C |
A |
19: 10,191,555 (GRCm39) |
V928L |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,662,325 (GRCm39) |
K134E |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 90,250,356 (GRCm39) |
D305V |
probably damaging |
Het |
| Obscn |
A |
C |
11: 58,889,147 (GRCm39) |
S7542A |
unknown |
Het |
| Or4a27 |
T |
A |
2: 88,559,608 (GRCm39) |
I112F |
probably damaging |
Het |
| Pak4 |
G |
A |
7: 28,264,615 (GRCm39) |
R96C |
probably damaging |
Het |
| Pde6b |
A |
T |
5: 108,575,713 (GRCm39) |
D691V |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,221,601 (GRCm39) |
E171G |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,387,740 (GRCm39) |
V873I |
possibly damaging |
Het |
| Plb1 |
A |
T |
5: 32,450,587 (GRCm39) |
D376V |
probably damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,913,904 (GRCm39) |
Y1209H |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,393,885 (GRCm39) |
C263R |
probably damaging |
Het |
| Psma2 |
A |
T |
13: 14,798,190 (GRCm39) |
Y104F |
probably benign |
Het |
| Ptger4 |
T |
A |
15: 5,272,281 (GRCm39) |
M113L |
possibly damaging |
Het |
| Rgs10 |
T |
G |
7: 128,006,201 (GRCm39) |
D17A |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,592,090 (GRCm39) |
S189P |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,822,188 (GRCm39) |
L102P |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,610,167 (GRCm39) |
S655G |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,106,756 (GRCm39) |
|
probably null |
Het |
| Sema4a |
C |
T |
3: 88,344,056 (GRCm39) |
D732N |
probably benign |
Het |
| Sh3bp5l |
A |
G |
11: 58,237,177 (GRCm39) |
D378G |
probably benign |
Het |
| Sh3gl3 |
C |
T |
7: 81,933,327 (GRCm39) |
T230I |
possibly damaging |
Het |
| Slc28a2b |
C |
T |
2: 122,352,133 (GRCm39) |
R324C |
possibly damaging |
Het |
| Slc5a1 |
A |
T |
5: 33,304,297 (GRCm39) |
Q299L |
probably damaging |
Het |
| Ssc5d |
C |
A |
7: 4,939,606 (GRCm39) |
H681N |
probably benign |
Het |
| Sugp2 |
T |
C |
8: 70,689,360 (GRCm39) |
S10P |
possibly damaging |
Het |
| Supt5 |
A |
G |
7: 28,016,639 (GRCm39) |
|
probably null |
Het |
| Syna |
A |
G |
5: 134,588,943 (GRCm39) |
V2A |
probably benign |
Het |
| Tcp1 |
T |
A |
17: 13,141,089 (GRCm39) |
Y299* |
probably null |
Het |
| Tenm3 |
C |
A |
8: 48,729,291 (GRCm39) |
V1572L |
probably benign |
Het |
| Tent4b |
T |
G |
8: 88,977,416 (GRCm39) |
V406G |
probably benign |
Het |
| Trp53rka |
A |
G |
2: 165,333,533 (GRCm39) |
S119P |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,179,874 (GRCm39) |
|
probably null |
Het |
| Uchl4 |
T |
A |
9: 64,142,757 (GRCm39) |
D79E |
probably benign |
Het |
| Vmn2r17 |
C |
A |
5: 109,576,344 (GRCm39) |
T405K |
probably damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,998,564 (GRCm39) |
L228P |
probably damaging |
Het |
| Xrcc4 |
T |
G |
13: 90,140,698 (GRCm39) |
E170D |
probably damaging |
Het |
| Zfp945 |
T |
C |
17: 23,070,736 (GRCm39) |
T388A |
probably damaging |
Het |
| Zfp947 |
G |
A |
17: 22,365,443 (GRCm39) |
A77V |
probably benign |
Het |
| Zkscan5 |
G |
A |
5: 145,157,015 (GRCm39) |
G433R |
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 |
|
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 |
|
|
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'- CTAGGACACACTGTTCCAGC -3'
(R):5'- GCACATTGCAATACCTGTTAGC -3'
Sequencing Primer
(F):5'- TAGGACACACTGTTCCAGCTTTACG -3'
(R):5'- GCAATACCTGTTAGCACATGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation