Incidental Mutation 'R5178:Mmp17'
| ID |
399460 |
| 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 |
042758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R5178 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
129661233-129688163 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129672122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 132
(W132R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031390]
|
| AlphaFold |
Q9R0S3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031390
AA Change: W132R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031390
Gene: ENSMUSG00000029436
AA Change: W132R
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
| Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
| Cndp2 |
A |
T |
18: 84,693,153 (GRCm39) |
N202K |
probably benign |
Het |
| Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
| Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,397,376 (GRCm39) |
F3936V |
possibly damaging |
Het |
| Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
| Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
| Fam171b |
T |
C |
2: 83,710,331 (GRCm39) |
F668L |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,037,344 (GRCm39) |
S624T |
probably benign |
Het |
| Gpc2 |
C |
A |
5: 138,273,867 (GRCm39) |
V444L |
possibly damaging |
Het |
| Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
| Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
| Lhx1 |
G |
T |
11: 84,411,214 (GRCm39) |
A155E |
possibly damaging |
Het |
| Maip1 |
G |
A |
1: 57,454,849 (GRCm39) |
D278N |
probably benign |
Het |
| Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
| Or4p7 |
C |
T |
2: 88,221,819 (GRCm39) |
T76I |
possibly damaging |
Het |
| Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
| Pds5a |
T |
C |
5: 65,821,218 (GRCm39) |
T169A |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,029,396 (GRCm39) |
N697D |
probably benign |
Het |
| Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
| Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,312,607 (GRCm39) |
M1109K |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
| Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
| Sp4 |
A |
G |
12: 118,225,624 (GRCm39) |
V580A |
possibly damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,046,667 (GRCm39) |
S413T |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
| Tmem200a |
T |
A |
10: 25,870,277 (GRCm39) |
Q4H |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,717,469 (GRCm39) |
I122N |
probably benign |
Het |
| Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
| Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,337 (GRCm39) |
T250A |
probably benign |
Het |
| Wasf1 |
G |
A |
10: 40,813,672 (GRCm39) |
R518H |
unknown |
Het |
| Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AACTTGACTGGATATGCGGGG -3'
(R):5'- ATGGCCTGGGTGATAAGATTTC -3'
Sequencing Primer
(F):5'- GAGATTGAACACACCTGGCCTTG -3'
(R):5'- ATAAGATTTCTCAGGGCCGGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation