Incidental Mutation 'R7546:Mmp17'
ID |
584214 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmp17
|
Ensembl Gene |
ENSMUSG00000029436 |
Gene Name |
matrix metallopeptidase 17 |
Synonyms |
MT4-MMP, membrane type-4 matrix metalloproteinase |
MMRRC Submission |
045617-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R7546 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
129661233-129688163 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 129673653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 244
(V244E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031390]
|
AlphaFold |
Q9R0S3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031390
AA Change: V244E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031390 Gene: ENSMUSG00000029436 AA Change: V244E
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 |
|
Meta Mutation Damage Score |
0.9582 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (40/40) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
A |
G |
17: 48,348,330 (GRCm39) |
S36P |
probably benign |
Het |
A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
Ampd1 |
A |
G |
3: 103,003,028 (GRCm39) |
T582A |
probably benign |
Het |
Ank1 |
A |
C |
8: 23,555,011 (GRCm39) |
N57T |
probably damaging |
Het |
Atxn3 |
A |
G |
12: 101,914,261 (GRCm39) |
|
probably null |
Het |
Bace2 |
G |
A |
16: 97,200,882 (GRCm39) |
A117T |
probably benign |
Het |
Bcl2l15 |
A |
G |
3: 103,740,203 (GRCm39) |
N19S |
probably benign |
Het |
Bid |
C |
A |
6: 120,877,112 (GRCm39) |
|
probably null |
Het |
Cadps2 |
A |
T |
6: 23,626,607 (GRCm39) |
M227K |
probably benign |
Het |
Clip4 |
G |
A |
17: 72,135,697 (GRCm39) |
C483Y |
possibly damaging |
Het |
Dennd4a |
A |
G |
9: 64,780,326 (GRCm39) |
T621A |
probably damaging |
Het |
E2f3 |
G |
A |
13: 30,094,112 (GRCm39) |
S383L |
probably damaging |
Het |
F2r |
C |
T |
13: 95,754,858 (GRCm39) |
V9I |
probably benign |
Het |
Gm14226 |
T |
C |
2: 154,867,131 (GRCm39) |
S363P |
probably damaging |
Het |
Gstm5 |
T |
C |
3: 107,804,610 (GRCm39) |
Y65H |
probably damaging |
Het |
H2bc13 |
A |
G |
13: 21,900,040 (GRCm39) |
S92P |
probably benign |
Het |
H60c |
A |
G |
10: 3,209,907 (GRCm39) |
W127R |
probably damaging |
Het |
Itgav |
G |
T |
2: 83,606,894 (GRCm39) |
G448* |
probably null |
Het |
Klrh1 |
T |
C |
6: 129,749,343 (GRCm39) |
H84R |
probably benign |
Het |
Lhx6 |
C |
T |
2: 35,993,357 (GRCm39) |
|
probably null |
Het |
Manba |
T |
A |
3: 135,276,007 (GRCm39) |
V816D |
probably benign |
Het |
Marchf10 |
G |
A |
11: 105,280,906 (GRCm39) |
P460S |
not run |
Het |
Mtrr |
C |
T |
13: 68,730,268 (GRCm39) |
|
probably benign |
Het |
Nup160 |
T |
C |
2: 90,515,402 (GRCm39) |
I170T |
probably damaging |
Het |
Or4c12b |
A |
G |
2: 89,647,363 (GRCm39) |
N225S |
probably benign |
Het |
Or4c12b |
A |
T |
2: 89,647,538 (GRCm39) |
L283F |
probably damaging |
Het |
Or51e1 |
T |
C |
7: 102,358,996 (GRCm39) |
S177P |
probably damaging |
Het |
Pappa |
G |
A |
4: 65,074,352 (GRCm39) |
S302N |
possibly damaging |
Het |
Plekhj1 |
G |
A |
10: 80,633,748 (GRCm39) |
A53V |
possibly damaging |
Het |
Pramel46 |
T |
A |
5: 95,418,171 (GRCm39) |
H275L |
possibly damaging |
Het |
Pramel48 |
C |
T |
5: 95,630,539 (GRCm39) |
R139C |
probably benign |
Het |
Prpf8 |
T |
C |
11: 75,399,200 (GRCm39) |
V2157A |
probably damaging |
Het |
Rps8 |
G |
A |
4: 117,011,104 (GRCm39) |
R200W |
probably damaging |
Het |
Sesn2 |
A |
G |
4: 132,227,154 (GRCm39) |
F93L |
probably damaging |
Het |
Skic3 |
C |
A |
13: 76,282,954 (GRCm39) |
L759M |
probably damaging |
Het |
Slf1 |
A |
G |
13: 77,197,311 (GRCm39) |
S768P |
probably benign |
Het |
Stat4 |
A |
G |
1: 52,137,622 (GRCm39) |
N471S |
probably damaging |
Het |
Trcg1 |
T |
C |
9: 57,155,621 (GRCm39) |
L758P |
probably benign |
Het |
Trim35 |
A |
G |
14: 66,540,696 (GRCm39) |
T183A |
probably benign |
Het |
Ttr |
C |
A |
18: 20,803,102 (GRCm39) |
Y89* |
probably null |
Het |
Zfp90 |
C |
A |
8: 107,151,323 (GRCm39) |
H345Q |
probably benign |
Het |
Zmym4 |
A |
G |
4: 126,757,961 (GRCm39) |
V1531A |
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 |
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 |
W0251:Mmp17
|
UTSW |
5 |
129,672,591 (GRCm39) |
missense |
probably benign |
0.09 |
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'- GCTCAGCGCAGTCTCACATAAC -3'
(R):5'- ACTACTTGGGGCATTTGTTCC -3'
Sequencing Primer
(F):5'- CCACAGCACACATTTAGGCTAACTTG -3'
(R):5'- GGGGCATTTGTTCCTAGCCC -3'
|
Posted On |
2019-10-17 |