Incidental Mutation 'IGL02991:Mmp1a'
ID |
452928 |
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 # |
IGL02991 (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 |
95% (73/77) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Adam23 |
T |
C |
1: 63,586,978 (GRCm39) |
|
probably null |
Het |
Aptx |
C |
A |
4: 40,686,687 (GRCm39) |
G199C |
probably damaging |
Het |
Asap2 |
T |
C |
12: 21,299,294 (GRCm39) |
|
probably benign |
Het |
Atp11b |
A |
G |
3: 35,881,140 (GRCm39) |
T566A |
probably benign |
Het |
Bcas3 |
C |
T |
11: 85,348,713 (GRCm39) |
Q202* |
probably null |
Het |
Cacna1h |
C |
A |
17: 25,610,286 (GRCm39) |
R740L |
possibly damaging |
Het |
Casp8 |
T |
A |
1: 58,866,438 (GRCm39) |
N146K |
probably benign |
Het |
Ccdc63 |
T |
C |
5: 122,246,275 (GRCm39) |
M549V |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cdh20 |
T |
C |
1: 104,861,972 (GRCm39) |
S51P |
probably benign |
Het |
Chd7 |
T |
C |
4: 8,828,398 (GRCm39) |
M1113T |
possibly damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Crb1 |
ACC |
AC |
1: 139,164,822 (GRCm39) |
|
probably null |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Cxcl11 |
C |
T |
5: 92,509,169 (GRCm39) |
R28H |
probably damaging |
Het |
Defb40 |
C |
T |
8: 19,025,119 (GRCm39) |
C29Y |
probably damaging |
Het |
Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
Fen1 |
A |
T |
19: 10,178,026 (GRCm39) |
D139E |
probably benign |
Het |
Frem3 |
A |
G |
8: 81,395,511 (GRCm39) |
E1846G |
probably damaging |
Het |
Gria2 |
T |
A |
3: 80,615,116 (GRCm39) |
K455* |
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,614,409 (GRCm39) |
N1332K |
possibly damaging |
Het |
Htr5b |
C |
T |
1: 121,455,756 (GRCm39) |
V55M |
probably benign |
Het |
Ighv6-5 |
A |
T |
12: 114,380,315 (GRCm39) |
N86K |
probably benign |
Het |
Il4ra |
T |
C |
7: 125,174,833 (GRCm39) |
V347A |
possibly damaging |
Het |
Itih5 |
A |
G |
2: 10,256,162 (GRCm39) |
E876G |
probably benign |
Het |
Itpkb |
A |
T |
1: 180,155,279 (GRCm39) |
|
probably benign |
Het |
Lbr |
T |
C |
1: 181,649,117 (GRCm39) |
Y334C |
probably damaging |
Het |
Lrfn2 |
T |
C |
17: 49,377,732 (GRCm39) |
L271P |
probably damaging |
Het |
Lss |
T |
A |
10: 76,379,745 (GRCm39) |
|
probably benign |
Het |
Map1a |
T |
C |
2: 121,132,091 (GRCm39) |
V731A |
probably damaging |
Het |
Mob3b |
T |
A |
4: 35,083,805 (GRCm39) |
Q128L |
probably benign |
Het |
Mog |
T |
C |
17: 37,334,091 (GRCm39) |
M1V |
probably null |
Het |
Mrpl4 |
A |
G |
9: 20,919,901 (GRCm39) |
Y284C |
probably damaging |
Het |
Mtus2 |
T |
G |
5: 148,250,310 (GRCm39) |
V310G |
probably damaging |
Het |
Mup11 |
ACAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCA |
4: 60,618,275 (GRCm39) |
|
probably benign |
Het |
Odad4 |
A |
G |
11: 100,444,698 (GRCm39) |
S285G |
probably benign |
Het |
Or10g9 |
T |
C |
9: 39,911,698 (GRCm39) |
Y275C |
probably damaging |
Het |
Or8g55 |
T |
A |
9: 39,785,362 (GRCm39) |
S264T |
probably benign |
Het |
Orc3 |
T |
G |
4: 34,593,083 (GRCm39) |
Q328P |
probably damaging |
Het |
Otulinl |
T |
C |
15: 27,658,388 (GRCm39) |
S211G |
possibly damaging |
Het |
Pcdhb20 |
G |
T |
18: 37,639,264 (GRCm39) |
G597C |
probably damaging |
Het |
Pdxdc1 |
A |
G |
16: 13,675,260 (GRCm39) |
I334T |
probably damaging |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Proz |
G |
A |
8: 13,123,490 (GRCm39) |
E254K |
probably benign |
Het |
Psma6 |
T |
C |
12: 55,454,357 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,776,192 (GRCm39) |
V1115A |
probably damaging |
Het |
Sfxn5 |
G |
T |
6: 85,266,190 (GRCm39) |
N102K |
possibly damaging |
Het |
Sgo2a |
G |
T |
1: 58,054,514 (GRCm39) |
|
probably benign |
Het |
Slc14a2 |
A |
T |
18: 78,249,049 (GRCm39) |
M1K |
probably null |
Het |
Spag5 |
T |
A |
11: 78,205,077 (GRCm39) |
L621M |
probably damaging |
Het |
Spata31 |
A |
G |
13: 65,068,533 (GRCm39) |
Y227C |
probably benign |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Supt6 |
T |
C |
11: 78,116,179 (GRCm39) |
E728G |
probably damaging |
Het |
Sympk |
T |
A |
7: 18,764,502 (GRCm39) |
L69Q |
probably damaging |
Het |
Timd4 |
T |
A |
11: 46,732,974 (GRCm39) |
|
probably benign |
Het |
Trh |
G |
A |
6: 92,220,719 (GRCm39) |
R48W |
probably damaging |
Het |
Trip12 |
C |
A |
1: 84,716,536 (GRCm39) |
D383Y |
probably damaging |
Het |
Tspo2 |
T |
A |
17: 48,757,014 (GRCm39) |
I23F |
possibly damaging |
Het |
Tspyl5 |
A |
G |
15: 33,686,989 (GRCm39) |
S319P |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,717,201 (GRCm39) |
K403E |
probably damaging |
Het |
Vmn2r34 |
C |
A |
7: 7,675,720 (GRCm39) |
C556F |
probably damaging |
Het |
Vps13c |
C |
A |
9: 67,821,159 (GRCm39) |
A1223E |
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 |
|
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 |
|
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'- GGAAAACTACTACAACTTGGGC -3'
(R):5'- TGGTGTCACATCACTCCAGAC -3'
Sequencing Primer
(F):5'- TACTACAACTTGGGCAAAAACATG -3'
(R):5'- AGACTCTAAAGGCTCTCGCGATG -3'
|
Posted On |
2017-01-24 |