Incidental Mutation 'R8882:Mmp17'
ID |
676971 |
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 |
068750-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R8882 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
129661233-129688163 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 129679008 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 331
(D331G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031390]
|
AlphaFold |
Q9R0S3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031390
AA Change: D331G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000031390 Gene: ENSMUSG00000029436 AA Change: D331G
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (55/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actbl2 |
A |
T |
13: 111,392,033 (GRCm39) |
I123L |
probably benign |
Het |
Adam18 |
T |
C |
8: 25,136,438 (GRCm39) |
D361G |
probably benign |
Het |
Adcyap1r1 |
G |
A |
6: 55,468,219 (GRCm39) |
V352M |
possibly damaging |
Het |
Ahnak |
T |
C |
19: 8,978,106 (GRCm39) |
L75P |
probably damaging |
Het |
Arhgap23 |
T |
C |
11: 97,355,949 (GRCm39) |
S856P |
probably benign |
Het |
Asprv1 |
G |
T |
6: 86,605,349 (GRCm39) |
C65F |
probably benign |
Het |
Atp2b4 |
A |
T |
1: 133,654,193 (GRCm39) |
|
probably null |
Het |
Cd55 |
A |
G |
1: 130,387,501 (GRCm39) |
V99A |
probably benign |
Het |
Cit |
G |
A |
5: 116,001,089 (GRCm39) |
A163T |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,155,481 (GRCm39) |
D711E |
probably benign |
Het |
Dnajc15 |
A |
T |
14: 78,094,411 (GRCm39) |
V41E |
probably damaging |
Het |
Dock2 |
GCACACACACA |
GCACACACACACA |
11: 34,595,436 (GRCm39) |
453 |
probably null |
Het |
Dst |
T |
C |
1: 34,240,005 (GRCm39) |
S1785P |
probably damaging |
Het |
Efhb |
A |
G |
17: 53,769,712 (GRCm39) |
V199A |
probably damaging |
Het |
Esyt3 |
C |
T |
9: 99,202,909 (GRCm39) |
G498D |
probably damaging |
Het |
Fbxo11 |
A |
G |
17: 88,304,957 (GRCm39) |
I562T |
|
Het |
Fh1 |
C |
T |
1: 175,437,353 (GRCm39) |
V249I |
possibly damaging |
Het |
Gdpgp1 |
T |
C |
7: 79,888,704 (GRCm39) |
I245T |
possibly damaging |
Het |
Hinfp |
A |
G |
9: 44,209,629 (GRCm39) |
|
probably null |
Het |
Hip1r |
A |
G |
5: 124,140,025 (GRCm39) |
K1043E |
probably damaging |
Het |
Htt |
G |
A |
5: 34,979,061 (GRCm39) |
V815I |
probably benign |
Het |
Jrk |
A |
G |
15: 74,579,004 (GRCm39) |
Y94H |
probably damaging |
Het |
Krit1 |
T |
A |
5: 3,886,864 (GRCm39) |
N704K |
possibly damaging |
Het |
Nlrp9a |
T |
A |
7: 26,257,703 (GRCm39) |
Y440* |
probably null |
Het |
Nphp3 |
A |
G |
9: 103,882,793 (GRCm39) |
T216A |
possibly damaging |
Het |
Or1e1f |
T |
G |
11: 73,855,940 (GRCm39) |
C169G |
probably damaging |
Het |
Or4a79 |
G |
T |
2: 89,551,740 (GRCm39) |
C238* |
probably null |
Het |
Or5ae2 |
T |
C |
7: 84,505,681 (GRCm39) |
Y37H |
probably damaging |
Het |
Or7e176 |
T |
C |
9: 20,171,256 (GRCm39) |
F40S |
probably benign |
Het |
Or8c15 |
T |
A |
9: 38,120,461 (GRCm39) |
Y35* |
probably null |
Het |
Parva |
T |
C |
7: 112,027,211 (GRCm39) |
S14P |
probably benign |
Het |
Pax6 |
A |
C |
2: 105,521,963 (GRCm39) |
N207H |
possibly damaging |
Het |
Pde6a |
A |
G |
18: 61,378,619 (GRCm39) |
N314S |
|
Het |
Phlpp1 |
T |
A |
1: 106,320,372 (GRCm39) |
S1456T |
probably benign |
Het |
Plxnc1 |
A |
G |
10: 94,677,428 (GRCm39) |
V933A |
probably damaging |
Het |
Rasgef1b |
A |
G |
5: 99,524,860 (GRCm39) |
S100P |
probably benign |
Het |
Rpn2 |
A |
G |
2: 157,136,102 (GRCm39) |
H170R |
probably benign |
Het |
Sbds |
A |
G |
5: 130,282,778 (GRCm39) |
|
probably null |
Het |
Scube2 |
G |
C |
7: 109,451,680 (GRCm39) |
L158V |
probably damaging |
Het |
Slc16a12 |
C |
A |
19: 34,649,854 (GRCm39) |
V394L |
probably benign |
Het |
Slc23a2 |
A |
T |
2: 131,933,159 (GRCm39) |
Y100N |
possibly damaging |
Het |
Slc30a9 |
G |
T |
5: 67,473,044 (GRCm39) |
E43* |
probably null |
Het |
Specc1l |
A |
T |
10: 75,065,689 (GRCm39) |
M1L |
unknown |
Het |
Sspo |
T |
A |
6: 48,452,390 (GRCm39) |
C2785S |
probably damaging |
Het |
Star |
T |
C |
8: 26,302,897 (GRCm39) |
S280P |
probably benign |
Het |
Strip1 |
A |
T |
3: 107,534,341 (GRCm39) |
M127K |
probably benign |
Het |
Tbx19 |
C |
T |
1: 164,966,780 (GRCm39) |
V365M |
probably benign |
Het |
Tex2 |
T |
C |
11: 106,435,062 (GRCm39) |
D788G |
unknown |
Het |
Tspyl1 |
A |
G |
10: 34,158,494 (GRCm39) |
E73G |
possibly damaging |
Het |
Ulk2 |
C |
T |
11: 61,698,887 (GRCm39) |
|
probably null |
Het |
Vmn2r120 |
A |
T |
17: 57,852,229 (GRCm39) |
M29K |
probably benign |
Het |
Vmn2r60 |
C |
A |
7: 41,790,518 (GRCm39) |
Q502K |
probably benign |
Het |
Xpo5 |
A |
G |
17: 46,538,666 (GRCm39) |
D624G |
possibly damaging |
Het |
Zfp119b |
T |
C |
17: 56,246,923 (GRCm39) |
R88G |
possibly damaging |
Het |
Zfp879 |
C |
A |
11: 50,724,763 (GRCm39) |
E98* |
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 |
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 |
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'- CTAACTGACCTTGTTTGCCTGG -3'
(R):5'- AAGCGATGCATTTGAGCCGG -3'
Sequencing Primer
(F):5'- GTTCTGGCAGGAATAGCT -3'
(R):5'- GGGTCAGCCTCCAGAAATACTTG -3'
|
Posted On |
2021-07-15 |