Incidental Mutation 'R5293:Mmp19'
ID |
405255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmp19
|
Ensembl Gene |
ENSMUSG00000025355 |
Gene Name |
matrix metallopeptidase 19 |
Synonyms |
|
MMRRC Submission |
042876-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.350)
|
Stock # |
R5293 (G1)
|
Quality Score |
178 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
128626779-128636693 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 128626970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 16
(V16D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026411]
[ENSMUST00000219404]
|
AlphaFold |
Q9JHI0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026411
AA Change: V16D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000026411 Gene: ENSMUSG00000025355 AA Change: V16D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:PG_binding_1
|
26 |
81 |
6.7e-10 |
PFAM |
ZnMc
|
101 |
258 |
5.13e-43 |
SMART |
low complexity region
|
262 |
271 |
N/A |
INTRINSIC |
HX
|
293 |
335 |
8.97e-8 |
SMART |
HX
|
337 |
378 |
1e-5 |
SMART |
HX
|
380 |
427 |
1.87e-5 |
SMART |
HX
|
429 |
471 |
3.7e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218021
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219404
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219535
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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 develop a diet-induced obesity due to adipocyte hypertophy, exhibit decreased susceptibility to chemical carcinogen-induced skin tumors and early onset of tumoral angiogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016] PHENOTYPE: Mice homozygous for one knock-out allele develop diet-induced obesity due to adipocyte hypertrophy and display decreased incidence of chemically-induced fibrosarcomas while another knock-out mutant shows a reduced inflammatory reaction to contact hypersensitivity and abnormal T cell differentiation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
A |
G |
8: 25,300,722 (GRCm39) |
V269A |
possibly damaging |
Het |
Akap9 |
C |
T |
5: 3,998,687 (GRCm39) |
R19W |
probably damaging |
Het |
Akr7a5 |
G |
T |
4: 139,041,517 (GRCm39) |
R142L |
probably benign |
Het |
Atp6v0a2 |
A |
T |
5: 124,784,649 (GRCm39) |
M311L |
probably benign |
Het |
Atxn1 |
C |
T |
13: 45,721,844 (GRCm39) |
R17H |
probably damaging |
Het |
Ccdc116 |
A |
T |
16: 16,959,651 (GRCm39) |
L346Q |
possibly damaging |
Het |
Copg2 |
T |
A |
6: 30,803,162 (GRCm39) |
N261I |
probably damaging |
Het |
Crtc2 |
A |
G |
3: 90,170,871 (GRCm39) |
E648G |
probably benign |
Het |
Dnah10 |
A |
C |
5: 124,868,851 (GRCm39) |
K2334Q |
probably benign |
Het |
Foxa2 |
T |
C |
2: 147,885,922 (GRCm39) |
T123A |
probably benign |
Het |
Galnt6 |
A |
G |
15: 100,601,382 (GRCm39) |
V299A |
probably benign |
Het |
Grip1 |
T |
C |
10: 119,733,640 (GRCm39) |
S26P |
probably damaging |
Het |
Jkamp |
A |
G |
12: 72,136,883 (GRCm39) |
S84G |
probably benign |
Het |
Kcnc1 |
A |
G |
7: 46,047,235 (GRCm39) |
H45R |
probably benign |
Het |
Knl1 |
T |
C |
2: 118,900,176 (GRCm39) |
Y626H |
probably damaging |
Het |
Mrpl38 |
T |
C |
11: 116,023,599 (GRCm39) |
N280S |
probably benign |
Het |
Myl7 |
T |
A |
11: 5,848,521 (GRCm39) |
|
probably benign |
Het |
Ngef |
CCCTCCTCCTCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTCCTCCTCCTC |
1: 87,431,151 (GRCm39) |
|
probably benign |
Het |
Nlrp2 |
A |
C |
7: 5,330,614 (GRCm39) |
L594R |
probably damaging |
Het |
Or2y3 |
T |
A |
17: 38,393,131 (GRCm39) |
H246L |
probably damaging |
Het |
Or4f15 |
T |
G |
2: 111,813,611 (GRCm39) |
K269N |
probably damaging |
Het |
Or52n2c |
T |
C |
7: 104,574,486 (GRCm39) |
T162A |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,579,300 (GRCm39) |
E1802G |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,399,146 (GRCm39) |
V2070A |
probably benign |
Het |
Plcxd2 |
G |
T |
16: 45,800,706 (GRCm39) |
H173N |
probably damaging |
Het |
Plec |
C |
G |
15: 76,083,783 (GRCm39) |
W26C |
probably benign |
Het |
Psmc1 |
C |
T |
12: 100,081,731 (GRCm39) |
T111I |
probably benign |
Het |
Rbfa |
T |
C |
18: 80,235,981 (GRCm39) |
E256G |
probably benign |
Het |
Sh3d21 |
T |
A |
4: 126,046,050 (GRCm39) |
T173S |
probably benign |
Het |
Slc41a3 |
T |
A |
6: 90,603,426 (GRCm39) |
V149E |
probably damaging |
Het |
Sntg1 |
A |
G |
1: 8,665,757 (GRCm39) |
S186P |
probably damaging |
Het |
Spag4 |
A |
G |
2: 155,908,111 (GRCm39) |
D29G |
probably benign |
Het |
Spc25 |
A |
G |
2: 69,032,996 (GRCm39) |
V43A |
possibly damaging |
Het |
Spen |
G |
A |
4: 141,199,717 (GRCm39) |
A2947V |
possibly damaging |
Het |
Spta1 |
T |
C |
1: 174,023,551 (GRCm39) |
S653P |
probably damaging |
Het |
Ssrp1 |
T |
A |
2: 84,872,596 (GRCm39) |
Y411* |
probably null |
Het |
Synrg |
C |
T |
11: 83,872,325 (GRCm39) |
L149F |
probably damaging |
Het |
Trappc11 |
G |
A |
8: 47,946,377 (GRCm39) |
A1085V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,571,276 (GRCm39) |
E18212G |
probably damaging |
Het |
Wnk4 |
T |
G |
11: 101,166,023 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Mmp19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01462:Mmp19
|
APN |
10 |
128,634,011 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01654:Mmp19
|
APN |
10 |
128,634,389 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02009:Mmp19
|
APN |
10 |
128,634,356 (GRCm39) |
missense |
probably benign |
|
IGL02110:Mmp19
|
APN |
10 |
128,630,727 (GRCm39) |
missense |
probably damaging |
0.97 |
H8562:Mmp19
|
UTSW |
10 |
128,631,470 (GRCm39) |
missense |
probably benign |
|
I0000:Mmp19
|
UTSW |
10 |
128,634,329 (GRCm39) |
missense |
probably benign |
0.38 |
R0183:Mmp19
|
UTSW |
10 |
128,634,872 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0388:Mmp19
|
UTSW |
10 |
128,634,752 (GRCm39) |
missense |
probably benign |
0.01 |
R1481:Mmp19
|
UTSW |
10 |
128,634,047 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2073:Mmp19
|
UTSW |
10 |
128,630,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R2443:Mmp19
|
UTSW |
10 |
128,634,725 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2495:Mmp19
|
UTSW |
10 |
128,626,819 (GRCm39) |
utr 5 prime |
probably benign |
|
R4477:Mmp19
|
UTSW |
10 |
128,631,506 (GRCm39) |
missense |
probably benign |
0.01 |
R6567:Mmp19
|
UTSW |
10 |
128,632,275 (GRCm39) |
missense |
probably benign |
|
R6932:Mmp19
|
UTSW |
10 |
128,627,523 (GRCm39) |
missense |
probably benign |
0.16 |
R7338:Mmp19
|
UTSW |
10 |
128,634,952 (GRCm39) |
missense |
probably benign |
0.00 |
R7611:Mmp19
|
UTSW |
10 |
128,634,857 (GRCm39) |
missense |
probably benign |
|
R8515:Mmp19
|
UTSW |
10 |
128,631,471 (GRCm39) |
missense |
probably benign |
0.01 |
R8704:Mmp19
|
UTSW |
10 |
128,634,703 (GRCm39) |
missense |
probably benign |
0.06 |
R9417:Mmp19
|
UTSW |
10 |
128,630,523 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATTCTCCACAGTTGAAGGC -3'
(R):5'- TAAGGGGCCTCAAATGGGAC -3'
Sequencing Primer
(F):5'- CTCCACAGTTGAAGGCTTATAAAGAG -3'
(R):5'- CAGGCTACATAGATCAGGATGC -3'
|
Posted On |
2016-07-22 |