Incidental Mutation 'R9588:Mmp1a'
| ID |
722892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp1a
|
| Ensembl Gene |
ENSMUSG00000043089 |
| Gene Name |
matrix metallopeptidase 1a (interstitial collagenase) |
| Synonyms |
Mcol-A |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
R9588 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7464141-7476857 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 7467225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 267
(T267I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034492]
[ENSMUST00000217651]
|
| AlphaFold |
Q9EPL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034492
AA Change: T267I
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034492
Gene: ENSMUSG00000043089
AA Change: T267I
| 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
AA Change: Q268*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
T |
C |
2: 158,468,328 (GRCm39) |
F153L |
possibly damaging |
Het |
| Ano3 |
T |
C |
2: 110,528,342 (GRCm39) |
K491E |
possibly damaging |
Het |
| Arhgap21 |
C |
A |
2: 20,858,938 (GRCm39) |
C1252F |
possibly damaging |
Het |
| Bcat1 |
T |
C |
6: 144,950,126 (GRCm39) |
N424S |
probably benign |
Het |
| Ccdc61 |
A |
G |
7: 18,644,266 (GRCm39) |
|
probably benign |
Het |
| Cecr2 |
T |
C |
6: 120,733,770 (GRCm39) |
S586P |
possibly damaging |
Het |
| Chd3 |
A |
G |
11: 69,241,046 (GRCm39) |
C1516R |
probably damaging |
Het |
| Cops5 |
C |
A |
1: 10,108,222 (GRCm39) |
R5L |
unknown |
Het |
| Cpne2 |
C |
A |
8: 95,286,781 (GRCm39) |
P369Q |
possibly damaging |
Het |
| Cyp3a25 |
G |
T |
5: 145,921,699 (GRCm39) |
Q412K |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,622,785 (GRCm39) |
V612A |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 118,012,783 (GRCm39) |
D426G |
probably benign |
Het |
| Dolpp1 |
T |
A |
2: 30,282,515 (GRCm39) |
Y23N |
probably damaging |
Het |
| Egf |
T |
C |
3: 129,511,617 (GRCm39) |
M517V |
probably benign |
Het |
| Fbxw27 |
ATGT |
AT |
9: 109,602,322 (GRCm39) |
|
probably null |
Het |
| Foxc1 |
A |
T |
13: 31,992,587 (GRCm39) |
H466L |
unknown |
Het |
| Hsf2bp |
A |
G |
17: 32,241,810 (GRCm39) |
L78P |
probably damaging |
Het |
| Ikbkb |
G |
A |
8: 23,151,410 (GRCm39) |
A738V |
unknown |
Het |
| Itgb8 |
G |
T |
12: 119,140,754 (GRCm39) |
N374K |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,553,804 (GRCm39) |
Q998L |
possibly damaging |
Het |
| Krtap11-1 |
A |
C |
16: 89,368,062 (GRCm39) |
|
probably benign |
Het |
| Lamp3 |
T |
A |
16: 19,494,832 (GRCm39) |
|
probably null |
Het |
| Lrrc43 |
A |
T |
5: 123,641,307 (GRCm39) |
H497L |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,978,130 (GRCm39) |
D1299E |
probably benign |
Het |
| Ndst4 |
A |
C |
3: 125,476,808 (GRCm39) |
H11P |
probably damaging |
Het |
| Oas1c |
A |
G |
5: 120,946,202 (GRCm39) |
F99L |
probably benign |
Het |
| Or10s1 |
T |
C |
9: 39,986,353 (GRCm39) |
L254P |
probably damaging |
Het |
| Or14c39 |
T |
A |
7: 86,343,948 (GRCm39) |
C95S |
probably damaging |
Het |
| Or1j11 |
G |
T |
2: 36,311,784 (GRCm39) |
A125S |
probably damaging |
Het |
| Or5w15 |
G |
A |
2: 87,568,644 (GRCm39) |
T8I |
probably benign |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,564 (GRCm39) |
D339G |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,259,039 (GRCm39) |
N271I |
probably damaging |
Het |
| Pdilt |
A |
T |
7: 119,100,870 (GRCm39) |
D160E |
probably benign |
Het |
| Psma4 |
A |
T |
9: 54,862,245 (GRCm39) |
Q123L |
probably damaging |
Het |
| Selenbp2 |
A |
T |
3: 94,605,368 (GRCm39) |
I127F |
possibly damaging |
Het |
| Setd5 |
A |
G |
6: 113,121,025 (GRCm39) |
N1078S |
probably damaging |
Het |
| Sorl1 |
A |
C |
9: 41,993,105 (GRCm39) |
Y306* |
probably null |
Het |
| Spata17 |
T |
C |
1: 186,849,471 (GRCm39) |
K255E |
possibly damaging |
Het |
| Surf4 |
C |
A |
2: 26,823,622 (GRCm39) |
|
probably benign |
Het |
| Tbc1d16 |
G |
T |
11: 119,101,335 (GRCm39) |
H58Q |
probably damaging |
Het |
| Tfdp2 |
A |
G |
9: 96,169,663 (GRCm39) |
T5A |
probably damaging |
Het |
| Thsd7b |
T |
G |
1: 130,108,223 (GRCm39) |
C1313G |
probably damaging |
Het |
| Trmt44 |
A |
T |
5: 35,727,256 (GRCm39) |
C320S |
probably damaging |
Het |
| Unc119b |
G |
A |
5: 115,272,827 (GRCm39) |
T48M |
probably benign |
Het |
| Vit |
T |
A |
17: 78,930,079 (GRCm39) |
I348N |
probably damaging |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,347 (GRCm39) |
M31K |
probably null |
Het |
| Vmn2r81 |
A |
G |
10: 79,129,205 (GRCm39) |
T699A |
possibly damaging |
Het |
| Xrn1 |
A |
G |
9: 95,920,756 (GRCm39) |
T1339A |
probably benign |
Het |
| Zfp827 |
T |
A |
8: 79,905,604 (GRCm39) |
H860Q |
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 |
|
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 |
|
|
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'- ACTCATTCTAGTGATATAGGAGCAC -3'
(R):5'- TGTGAGGCTAACACATGAGC -3'
Sequencing Primer
(F):5'- CACTGAAGACTTTGTGCTAAACCAGG -3'
(R):5'- ACACATGAGCCCTATTGGTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation