Incidental Mutation 'IGL03055:Mmp1a'
| ID |
453386 |
| 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: 0.281)
|
| Stock # |
IGL03055 (G1)
|
| Quality Score |
214 |
|
Status
|
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: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900041M22Rik |
T |
A |
11: 117,503,072 (GRCm39) |
|
noncoding transcript |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A430005L14Rik |
T |
A |
4: 154,045,092 (GRCm39) |
S40R |
probably benign |
Het |
| Aire |
A |
G |
10: 77,878,903 (GRCm39) |
L48P |
probably damaging |
Het |
| Alkbh8 |
T |
C |
9: 3,345,882 (GRCm39) |
|
probably benign |
Het |
| Aqp7 |
A |
G |
4: 41,045,326 (GRCm39) |
M18T |
probably benign |
Het |
| Cchcr1 |
T |
A |
17: 35,837,516 (GRCm39) |
M406K |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,817,054 (GRCm39) |
D102E |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Clec16a |
T |
A |
16: 10,559,645 (GRCm39) |
S973T |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,145,515 (GRCm39) |
Y1471H |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,594,697 (GRCm39) |
Y3489C |
probably damaging |
Het |
| Ect2 |
T |
C |
3: 27,191,211 (GRCm39) |
E464G |
probably damaging |
Het |
| Enpp2 |
C |
A |
15: 54,729,481 (GRCm39) |
|
probably null |
Het |
| Erich2 |
G |
T |
2: 70,339,529 (GRCm39) |
C28F |
possibly damaging |
Het |
| Fam135b |
A |
T |
15: 71,493,883 (GRCm39) |
H15Q |
possibly damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Gfral |
T |
A |
9: 76,115,831 (GRCm39) |
T48S |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,557,836 (GRCm39) |
E293G |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,288,792 (GRCm39) |
N3691K |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,360,358 (GRCm39) |
T371A |
probably damaging |
Het |
| Nkain3 |
C |
A |
4: 20,778,308 (GRCm39) |
C3F |
probably benign |
Het |
| Nol4l |
G |
C |
2: 153,278,190 (GRCm39) |
|
silent |
Het |
| Nprl3 |
C |
A |
11: 32,198,230 (GRCm39) |
|
probably benign |
Het |
| Or52p1 |
A |
T |
7: 104,267,413 (GRCm39) |
I176F |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,523,069 (GRCm39) |
|
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,071,879 (GRCm39) |
K128R |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,375,533 (GRCm39) |
L1329P |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,647,370 (GRCm39) |
|
probably benign |
Het |
| Rassf5 |
T |
C |
1: 131,172,732 (GRCm39) |
I46V |
probably benign |
Het |
| Rin1 |
C |
T |
19: 5,103,187 (GRCm39) |
T481I |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,104,971 (GRCm39) |
L524P |
possibly damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,097,902 (GRCm39) |
|
silent |
Het |
| Ssh2 |
C |
T |
11: 77,299,021 (GRCm39) |
Q123* |
probably null |
Het |
| St18 |
G |
T |
1: 6,872,959 (GRCm39) |
L231F |
probably damaging |
Het |
| Stk11 |
A |
C |
10: 79,963,920 (GRCm39) |
D96A |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,108,615 (GRCm39) |
T1918A |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
C |
A |
5: 65,083,939 (GRCm39) |
V213F |
probably benign |
Het |
| Trappc10 |
C |
T |
10: 78,050,520 (GRCm39) |
R307Q |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Wnt6 |
G |
A |
1: 74,822,013 (GRCm39) |
R198H |
probably damaging |
Het |
| Yipf2 |
A |
T |
9: 21,501,019 (GRCm39) |
V98E |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,515 (GRCm39) |
T248A |
possibly damaging |
Het |
| Zc3hav1 |
C |
T |
6: 38,293,251 (GRCm39) |
|
probably null |
Het |
| Zfp697 |
T |
G |
3: 98,332,810 (GRCm39) |
C79G |
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 |
|
|
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 |
|
|
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'- CCTGGAAAACTACTACAACTTGGG -3'
(R):5'- TCCAGACTCTAAAGGCTCTCG -3'
Sequencing Primer
(F):5'- TACTACAACTTGGGCAAAAACATG -3'
(R):5'- AGACTCTAAAGGCTCTCGCGATG -3'
|
| Posted On |
2017-02-03 |
Incidental Mutation