Incidental Mutation 'R0553:Mmp17'
| ID |
45280 |
| 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 |
038745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R0553 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
129661233-129688163 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 129675734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 298
(S298A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031390]
|
| AlphaFold |
Q9R0S3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031390
AA Change: S298A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031390
Gene: ENSMUSG00000029436
AA Change: S298A
| 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
|
| Meta Mutation Damage Score |
0.1408 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| 9530002B09Rik |
A |
T |
4: 122,596,128 (GRCm39) |
M120L |
unknown |
Het |
| Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
| Adamts13 |
T |
A |
2: 26,881,346 (GRCm39) |
C774* |
probably null |
Het |
| Amh |
A |
G |
10: 80,642,010 (GRCm39) |
|
probably benign |
Het |
| Armh4 |
T |
C |
14: 49,920,143 (GRCm39) |
I729V |
probably damaging |
Het |
| Cd40 |
G |
A |
2: 164,912,661 (GRCm39) |
R204Q |
probably benign |
Het |
| Cfap210 |
C |
A |
2: 69,619,785 (GRCm39) |
R8L |
probably damaging |
Het |
| Clhc1 |
A |
C |
11: 29,511,366 (GRCm39) |
|
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,891 (GRCm39) |
H973L |
unknown |
Het |
| Fut2 |
T |
A |
7: 45,300,698 (GRCm39) |
I25F |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 58,005,464 (GRCm39) |
|
probably benign |
Het |
| Gmppb |
A |
T |
9: 107,926,996 (GRCm39) |
M56L |
probably benign |
Het |
| Grm3 |
C |
A |
5: 9,620,048 (GRCm39) |
A399S |
probably benign |
Het |
| H2-T5 |
G |
T |
17: 36,478,949 (GRCm39) |
P100Q |
probably damaging |
Het |
| Hey2 |
G |
A |
10: 30,716,485 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,433,186 (GRCm39) |
|
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,184,447 (GRCm39) |
C92F |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,282,609 (GRCm39) |
D229G |
probably damaging |
Het |
| Klf11 |
C |
G |
12: 24,705,089 (GRCm39) |
P164R |
probably benign |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Krtcap3 |
T |
C |
5: 31,409,147 (GRCm39) |
V6A |
probably benign |
Het |
| Ltbr |
A |
C |
6: 125,290,351 (GRCm39) |
|
probably null |
Het |
| Nacc2 |
T |
A |
2: 25,979,602 (GRCm39) |
E278V |
possibly damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,518 (GRCm39) |
Y185N |
probably damaging |
Het |
| Or8b12b |
T |
A |
9: 37,684,627 (GRCm39) |
I224N |
probably benign |
Het |
| Otop2 |
C |
T |
11: 115,220,288 (GRCm39) |
A376V |
probably damaging |
Het |
| Pdia2 |
T |
C |
17: 26,415,217 (GRCm39) |
E504G |
probably damaging |
Het |
| Pdzph1 |
C |
T |
17: 59,229,722 (GRCm39) |
V979M |
probably damaging |
Het |
| Pou5f1 |
A |
G |
17: 35,820,374 (GRCm39) |
K86R |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,546,488 (GRCm39) |
F269L |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,449,152 (GRCm39) |
C659* |
probably null |
Het |
| Rnf8 |
T |
C |
17: 29,840,613 (GRCm39) |
|
probably null |
Het |
| Rras |
T |
G |
7: 44,669,980 (GRCm39) |
I137M |
probably benign |
Het |
| Slc38a9 |
A |
T |
13: 112,850,732 (GRCm39) |
H372L |
probably damaging |
Het |
| Spata9 |
T |
C |
13: 76,125,898 (GRCm39) |
|
probably null |
Het |
| Tas2r115 |
T |
C |
6: 132,714,922 (GRCm39) |
T10A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,629,237 (GRCm39) |
E12621G |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,545,828 (GRCm39) |
I460F |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zbtb24 |
C |
T |
10: 41,327,993 (GRCm39) |
A293V |
possibly damaging |
Het |
| Zpld2 |
T |
C |
4: 133,929,829 (GRCm39) |
T159A |
possibly 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 |
|
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 |
|
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'- TCTCCTTCACCGGAGTCAGATCAG -3'
(R):5'- AAAGTGTGCCCCAGAACCAGTCAG -3'
Sequencing Primer
(F):5'- TGGGGCATAGTACACTTCAC -3'
(R):5'- GCACATGCAACATGCCTTC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation