Incidental Mutation 'IGL03097:Mmp1a'
| ID |
453219 |
| 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 # |
IGL03097 (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 |
90% (46/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy9 |
T |
C |
16: 4,235,930 (GRCm39) |
T257A |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,751 (GRCm39) |
D345G |
probably benign |
Het |
| Ak5 |
A |
G |
3: 152,366,151 (GRCm39) |
|
probably null |
Het |
| Akap3 |
A |
G |
6: 126,843,379 (GRCm39) |
K666R |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,657 (GRCm39) |
N1158S |
probably benign |
Het |
| Atp23 |
A |
T |
10: 126,723,556 (GRCm39) |
V182E |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,422,462 (GRCm39) |
D898G |
probably benign |
Het |
| Bnip3 |
T |
C |
7: 138,496,208 (GRCm39) |
N140S |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,968,506 (GRCm39) |
Y1059C |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,610,118 (GRCm39) |
I796N |
probably damaging |
Het |
| Ccnb2 |
A |
G |
9: 70,316,678 (GRCm39) |
|
probably benign |
Het |
| Cd3g |
T |
A |
9: 44,882,061 (GRCm39) |
D165V |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,498,676 (GRCm39) |
T4A |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
C |
T |
6: 106,330,673 (GRCm39) |
T97M |
probably benign |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Crim1 |
C |
T |
17: 78,675,227 (GRCm39) |
T812I |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 15,995,127 (GRCm39) |
T2636K |
probably damaging |
Het |
| Cyp39a1 |
T |
A |
17: 43,993,941 (GRCm39) |
Y200* |
probably null |
Het |
| Dlg4 |
T |
G |
11: 69,933,028 (GRCm39) |
I478S |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,107,105 (GRCm39) |
N505K |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,043,049 (GRCm39) |
W323R |
probably damaging |
Het |
| Ehhadh |
T |
A |
16: 21,581,520 (GRCm39) |
I491L |
probably benign |
Het |
| Ggt6 |
T |
G |
11: 72,327,639 (GRCm39) |
H148Q |
possibly damaging |
Het |
| Gstm3 |
T |
C |
3: 107,876,117 (GRCm39) |
D25G |
probably benign |
Het |
| Gtf2h3 |
G |
A |
5: 124,740,231 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
| Hnf4g |
A |
C |
3: 3,716,674 (GRCm39) |
E281A |
probably damaging |
Het |
| Impg1 |
T |
G |
9: 80,287,234 (GRCm39) |
E404A |
possibly damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,715 (GRCm39) |
V432A |
probably benign |
Het |
| Map3k2 |
T |
G |
18: 32,333,070 (GRCm39) |
D81E |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,792,726 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
G |
A |
1: 88,163,098 (GRCm39) |
R376H |
probably benign |
Het |
| Ms4a1 |
G |
T |
19: 11,230,556 (GRCm39) |
T215N |
probably benign |
Het |
| Pam16 |
T |
C |
16: 4,434,458 (GRCm39) |
I111V |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,166,719 (GRCm39) |
T720A |
probably damaging |
Het |
| Pgap2 |
T |
C |
7: 101,885,434 (GRCm39) |
L100P |
probably damaging |
Het |
| Ppl |
T |
A |
16: 4,914,590 (GRCm39) |
S686C |
probably damaging |
Het |
| Rnls |
A |
G |
19: 33,115,679 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
A |
C |
9: 37,333,824 (GRCm39) |
|
probably null |
Het |
| Rptn |
G |
A |
3: 93,304,680 (GRCm39) |
G671D |
probably damaging |
Het |
| Slc6a21 |
C |
T |
7: 44,937,592 (GRCm39) |
Q628* |
probably null |
Het |
| Smg6 |
T |
G |
11: 74,823,252 (GRCm39) |
I708S |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Thap1 |
C |
G |
8: 26,652,498 (GRCm39) |
P79A |
probably benign |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
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 |
|
|
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'- TACCTGGAAAACTACTACAACTTGG -3'
(R):5'- AGACTCTAAAGGCTCTCGCG -3'
Sequencing Primer
(F):5'- TACTACAACTTGGGCAAAAACATG -3'
(R):5'- GCGATGGCATCTTCCACAACTG -3'
|
| Posted On |
2017-01-31 |
Incidental Mutation