Incidental Mutation 'IGL02738:Mmp1a'
ID |
305785 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02738
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
7464141-7476857 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 7464301 bp (GRCm39)
|
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 benign
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 benign
Transcript: ENSMUST00000217651
|
Coding Region Coverage |
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss1 |
A |
T |
2: 150,466,792 (GRCm39) |
|
probably benign |
Het |
Akr1c21 |
A |
T |
13: 4,630,300 (GRCm39) |
N198Y |
probably damaging |
Het |
Anapc11 |
A |
T |
11: 120,490,102 (GRCm39) |
K6I |
probably benign |
Het |
Angel1 |
G |
A |
12: 86,752,060 (GRCm39) |
L554F |
probably benign |
Het |
Arhgap11a |
A |
T |
2: 113,663,320 (GRCm39) |
*988K |
probably null |
Het |
Arnt |
T |
A |
3: 95,402,631 (GRCm39) |
|
probably null |
Het |
Atp1a3 |
T |
A |
7: 24,689,901 (GRCm39) |
D519V |
possibly damaging |
Het |
Bdp1 |
C |
A |
13: 100,187,861 (GRCm39) |
A1575S |
probably benign |
Het |
Bglap |
G |
A |
3: 88,291,715 (GRCm39) |
T3I |
unknown |
Het |
Brca2 |
C |
T |
5: 150,490,500 (GRCm39) |
P3054L |
probably damaging |
Het |
Btn2a2 |
C |
A |
13: 23,662,976 (GRCm39) |
E316* |
probably null |
Het |
C1qtnf9 |
C |
T |
14: 61,017,388 (GRCm39) |
T306I |
probably benign |
Het |
Caprin2 |
T |
C |
6: 148,744,360 (GRCm39) |
T1022A |
probably damaging |
Het |
Cd109 |
T |
C |
9: 78,598,581 (GRCm39) |
Y940H |
probably damaging |
Het |
Cd300ld |
A |
G |
11: 114,875,076 (GRCm39) |
L186S |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Chd6 |
A |
T |
2: 160,807,618 (GRCm39) |
S1865R |
probably benign |
Het |
Chrna2 |
T |
C |
14: 66,386,889 (GRCm39) |
V345A |
probably benign |
Het |
Dnah1 |
T |
G |
14: 31,014,597 (GRCm39) |
E1756A |
probably benign |
Het |
Dnah3 |
C |
T |
7: 119,564,720 (GRCm39) |
A2637T |
probably benign |
Het |
Ern2 |
A |
G |
7: 121,782,122 (GRCm39) |
F80S |
probably damaging |
Het |
Ero1b |
A |
G |
13: 12,619,322 (GRCm39) |
I439V |
possibly damaging |
Het |
Eva1a |
T |
G |
6: 82,048,211 (GRCm39) |
S30A |
probably benign |
Het |
Fer1l4 |
A |
G |
2: 155,887,648 (GRCm39) |
L516P |
probably benign |
Het |
Garin2 |
T |
A |
12: 78,780,989 (GRCm39) |
|
probably benign |
Het |
Hexim2 |
T |
C |
11: 103,029,103 (GRCm39) |
S52P |
probably damaging |
Het |
Hoxb9 |
A |
T |
11: 96,165,554 (GRCm39) |
M208L |
possibly damaging |
Het |
Lbr |
A |
G |
1: 181,659,778 (GRCm39) |
V139A |
probably benign |
Het |
Lcn10 |
G |
A |
2: 25,574,032 (GRCm39) |
|
probably benign |
Het |
Letm2 |
A |
G |
8: 26,076,789 (GRCm39) |
I271T |
probably damaging |
Het |
Lrrc34 |
T |
C |
3: 30,685,441 (GRCm39) |
S303G |
possibly damaging |
Het |
Matn2 |
C |
A |
15: 34,388,885 (GRCm39) |
A325D |
probably benign |
Het |
Mboat4 |
T |
C |
8: 34,582,258 (GRCm39) |
L4P |
probably damaging |
Het |
Naip2 |
T |
A |
13: 100,325,685 (GRCm39) |
R74S |
probably benign |
Het |
Neb |
G |
T |
2: 52,133,862 (GRCm39) |
Q3374K |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,044,157 (GRCm39) |
E486G |
possibly damaging |
Het |
Or4b13 |
A |
G |
2: 90,082,699 (GRCm39) |
I211T |
possibly damaging |
Het |
Or4k51 |
A |
C |
2: 111,584,699 (GRCm39) |
Y35S |
probably damaging |
Het |
Or5m12 |
A |
G |
2: 85,735,293 (GRCm39) |
V35A |
probably benign |
Het |
Or6c69 |
A |
T |
10: 129,747,200 (GRCm39) |
|
probably benign |
Het |
Pde8a |
A |
C |
7: 80,976,090 (GRCm39) |
N677H |
probably damaging |
Het |
Plag1 |
G |
A |
4: 3,903,812 (GRCm39) |
Q460* |
probably null |
Het |
Podnl1 |
A |
G |
8: 84,858,824 (GRCm39) |
T550A |
probably benign |
Het |
Ptpn22 |
A |
G |
3: 103,781,382 (GRCm39) |
|
probably benign |
Het |
Pycr3 |
A |
T |
15: 75,790,565 (GRCm39) |
I98N |
probably damaging |
Het |
Rtn4r |
A |
G |
16: 17,969,052 (GRCm39) |
Y160C |
probably damaging |
Het |
Slc27a4 |
A |
G |
2: 29,701,238 (GRCm39) |
N343S |
probably benign |
Het |
Slc2a4 |
A |
G |
11: 69,836,940 (GRCm39) |
Y43H |
probably damaging |
Het |
Sorbs1 |
A |
T |
19: 40,365,348 (GRCm39) |
L145Q |
probably damaging |
Het |
Speer2 |
A |
T |
16: 69,658,600 (GRCm39) |
S22T |
probably benign |
Het |
Sugp2 |
G |
T |
8: 70,696,449 (GRCm39) |
G474V |
probably damaging |
Het |
Syt3 |
C |
T |
7: 44,035,447 (GRCm39) |
S18L |
possibly damaging |
Het |
Tacc1 |
T |
C |
8: 25,691,159 (GRCm39) |
E48G |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,931,337 (GRCm39) |
V2083A |
probably benign |
Het |
Thra |
A |
T |
11: 98,655,185 (GRCm39) |
H355L |
probably benign |
Het |
Tmem35b |
C |
T |
4: 127,019,981 (GRCm39) |
Q34* |
probably null |
Het |
Unk |
G |
T |
11: 115,947,017 (GRCm39) |
G537V |
probably damaging |
Het |
Usp32 |
T |
A |
11: 84,974,632 (GRCm39) |
D92V |
probably damaging |
Het |
Vmn1r209 |
G |
T |
13: 22,990,290 (GRCm39) |
Y133* |
probably null |
Het |
Vmn1r42 |
A |
G |
6: 89,821,630 (GRCm39) |
V313A |
possibly damaging |
Het |
Vnn1 |
A |
G |
10: 23,780,520 (GRCm39) |
I503V |
probably benign |
Het |
Vwa2 |
G |
A |
19: 56,886,361 (GRCm39) |
G143R |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |