Incidental Mutation 'W0251:Mmp17'
ID |
166602 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmp17
|
Ensembl Gene |
ENSMUSG00000029436 |
Gene Name |
matrix metallopeptidase 17 |
Synonyms |
MT4-MMP, membrane type-4 matrix metalloproteinase |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
W0251 (G3R)
of strain
daniel_gray
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
129661233-129688163 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 129672591 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 181
(A181V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031390]
|
AlphaFold |
Q9R0S3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031390
AA Change: A181V
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000031390 Gene: ENSMUSG00000029436 AA Change: A181V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
Pfam:PG_binding_1
|
44 |
104 |
5e-15 |
PFAM |
ZnMc
|
128 |
295 |
8.26e-47 |
SMART |
low complexity region
|
308 |
320 |
N/A |
INTRINSIC |
HX
|
340 |
384 |
3.17e-8 |
SMART |
HX
|
389 |
432 |
2.59e-13 |
SMART |
HX
|
435 |
481 |
6.39e-13 |
SMART |
HX
|
483 |
527 |
1.1e-7 |
SMART |
low complexity region
|
563 |
578 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177802
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.3%
|
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. Mice lacking the encoded protein exhibit dysfunctional vascular smooth muscle cells and altered extracellular matrix in the vessel wall leading to an increased susceptibility to angiotensin-II-induced thoracic aortic aneurysm. [provided by RefSeq, Feb 2016] PHENOTYPE: Mice homozygous for a reporter allele exhibit normal morphology, clinical chemistry, hematology and behavior. Mice homozygous for a reporter/null allele exhibit normal growth, fertility, and lifespan but show subtle renal developmental defects, hypodipsia, and elevated urine osmolarity. [provided by MGI curators]
|
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 14 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcl2a1b |
T |
A |
9: 89,081,636 (GRCm39) |
M75K |
probably damaging |
Het |
Btaf1 |
G |
A |
19: 36,980,904 (GRCm39) |
R1575H |
probably damaging |
Het |
Cfap46 |
T |
C |
7: 139,183,862 (GRCm39) |
M2507V |
probably benign |
Het |
Dcc |
T |
C |
18: 71,959,154 (GRCm39) |
D206G |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,155,501 (GRCm39) |
I705F |
possibly damaging |
Het |
Entpd1 |
A |
T |
19: 40,714,697 (GRCm39) |
I269F |
probably damaging |
Het |
Gm4559 |
G |
C |
7: 141,827,535 (GRCm39) |
A189G |
unknown |
Het |
Ipo5 |
T |
A |
14: 121,176,197 (GRCm39) |
M648K |
probably benign |
Het |
Kdelr1 |
A |
G |
7: 45,531,045 (GRCm39) |
Y96C |
probably damaging |
Het |
Muc20 |
T |
C |
16: 32,614,223 (GRCm39) |
I385V |
possibly damaging |
Het |
Or13c7 |
C |
T |
4: 43,855,058 (GRCm39) |
L250F |
probably benign |
Het |
Pik3r6 |
A |
G |
11: 68,424,697 (GRCm39) |
Y434C |
probably benign |
Het |
Pura |
T |
C |
18: 36,420,843 (GRCm39) |
V210A |
probably benign |
Het |
Spic |
C |
T |
10: 88,515,766 (GRCm39) |
D19N |
probably damaging |
Het |
|
Other mutations in Mmp17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01473:Mmp17
|
APN |
5 |
129,683,472 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01602:Mmp17
|
APN |
5 |
129,679,008 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01605:Mmp17
|
APN |
5 |
129,679,008 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01782:Mmp17
|
APN |
5 |
129,679,205 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01986:Mmp17
|
APN |
5 |
129,673,692 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02096:Mmp17
|
APN |
5 |
129,675,752 (GRCm39) |
nonsense |
probably null |
|
IGL02160:Mmp17
|
APN |
5 |
129,672,633 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03075:Mmp17
|
APN |
5 |
129,672,138 (GRCm39) |
missense |
probably damaging |
1.00 |
P0005:Mmp17
|
UTSW |
5 |
129,673,695 (GRCm39) |
missense |
probably benign |
0.00 |
R0125:Mmp17
|
UTSW |
5 |
129,671,646 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0553:Mmp17
|
UTSW |
5 |
129,675,734 (GRCm39) |
missense |
probably benign |
0.30 |
R1521:Mmp17
|
UTSW |
5 |
129,672,152 (GRCm39) |
splice site |
probably null |
|
R1938:Mmp17
|
UTSW |
5 |
129,679,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R2151:Mmp17
|
UTSW |
5 |
129,682,725 (GRCm39) |
missense |
probably benign |
0.01 |
R4908:Mmp17
|
UTSW |
5 |
129,682,730 (GRCm39) |
nonsense |
probably null |
|
R4970:Mmp17
|
UTSW |
5 |
129,679,229 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5096:Mmp17
|
UTSW |
5 |
129,682,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R5112:Mmp17
|
UTSW |
5 |
129,679,229 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5178:Mmp17
|
UTSW |
5 |
129,672,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R5304:Mmp17
|
UTSW |
5 |
129,671,678 (GRCm39) |
missense |
probably null |
0.89 |
R5341:Mmp17
|
UTSW |
5 |
129,679,193 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6341:Mmp17
|
UTSW |
5 |
129,679,019 (GRCm39) |
missense |
probably damaging |
0.99 |
R6501:Mmp17
|
UTSW |
5 |
129,683,469 (GRCm39) |
missense |
probably benign |
0.00 |
R7257:Mmp17
|
UTSW |
5 |
129,672,697 (GRCm39) |
missense |
probably benign |
0.03 |
R7371:Mmp17
|
UTSW |
5 |
129,682,836 (GRCm39) |
missense |
probably null |
0.98 |
R7546:Mmp17
|
UTSW |
5 |
129,673,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R8026:Mmp17
|
UTSW |
5 |
129,672,148 (GRCm39) |
critical splice donor site |
probably null |
|
R8370:Mmp17
|
UTSW |
5 |
129,682,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R8525:Mmp17
|
UTSW |
5 |
129,679,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R8708:Mmp17
|
UTSW |
5 |
129,672,486 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8803:Mmp17
|
UTSW |
5 |
129,675,773 (GRCm39) |
nonsense |
probably null |
|
R8878:Mmp17
|
UTSW |
5 |
129,683,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R8882:Mmp17
|
UTSW |
5 |
129,679,008 (GRCm39) |
missense |
probably benign |
0.00 |
R9399:Mmp17
|
UTSW |
5 |
129,671,686 (GRCm39) |
nonsense |
probably null |
|
R9404:Mmp17
|
UTSW |
5 |
129,682,741 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9528:Mmp17
|
UTSW |
5 |
129,683,392 (GRCm39) |
missense |
probably benign |
0.00 |
Y5377:Mmp17
|
UTSW |
5 |
129,672,594 (GRCm39) |
missense |
probably damaging |
1.00 |
Y5380:Mmp17
|
UTSW |
5 |
129,672,594 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Mmp17
|
UTSW |
5 |
129,672,725 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCCTGGAGACTAGGAAAAGGCAG -3'
(R):5'- CCAGTGGCTAACTTAGGGCAGAAC -3'
Sequencing Primer
(F):5'- GGACACTCACTCATGGAGAGC -3'
(R):5'- TCTTTAAGCCAAAGTGGGGACTC -3'
|
Posted On |
2014-04-13 |