Incidental Mutation 'R4477:Mmp19'
| ID |
331323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp19
|
| Ensembl Gene |
ENSMUSG00000025355 |
| Gene Name |
matrix metallopeptidase 19 |
| Synonyms |
|
| MMRRC Submission |
041734-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
R4477 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128626779-128636693 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128631506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 129
(T129S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026411]
[ENSMUST00000051011]
[ENSMUST00000219404]
|
| AlphaFold |
Q9JHI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026411
AA Change: T201S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026411
Gene: ENSMUSG00000025355
AA Change: T201S
| 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 |
probably benign
Transcript: ENSMUST00000051011
|
| SMART Domains |
Protein: ENSMUSP00000050451
Gene: ENSMUSG00000047090
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4203
|
43 |
240 |
2.4e-47 |
PFAM |
|
low complexity region
|
257 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152966
|
| SMART Domains |
Protein: ENSMUSP00000117574
Gene: ENSMUSG00000047090
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4203
|
42 |
241 |
1.9e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218021
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219404
AA Change: T129S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219535
|
| Meta Mutation Damage Score |
0.1366 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
93% (39/42) |
| 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 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,186,383 (GRCm39) |
S549P |
probably damaging |
Het |
| Agfg1 |
T |
C |
1: 82,853,061 (GRCm39) |
S75P |
probably damaging |
Het |
| AK157302 |
T |
A |
13: 21,679,861 (GRCm39) |
V129E |
possibly damaging |
Het |
| Angpt1 |
A |
G |
15: 42,331,560 (GRCm39) |
Y344H |
probably damaging |
Het |
| Ap1m2 |
A |
G |
9: 21,209,509 (GRCm39) |
V389A |
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,531,448 (GRCm39) |
I230N |
probably damaging |
Het |
| C5ar1 |
T |
C |
7: 15,982,789 (GRCm39) |
N77S |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,607,200 (GRCm39) |
V1235M |
possibly damaging |
Het |
| Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dbn1 |
CCCGCTCCCGGTAGCGCCGCTC |
CCCGCTC |
13: 55,629,374 (GRCm39) |
|
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
T |
A |
2: 113,274,744 (GRCm39) |
|
probably benign |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Gm7138 |
A |
T |
10: 77,612,246 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
C |
T |
5: 31,422,781 (GRCm39) |
A890T |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,451,625 (GRCm39) |
T426A |
probably damaging |
Het |
| Katna1 |
T |
C |
10: 7,614,594 (GRCm39) |
V32A |
probably damaging |
Het |
| Lrrc71 |
G |
C |
3: 87,649,972 (GRCm39) |
R319G |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
C |
9: 58,784,582 (GRCm39) |
D1458G |
probably damaging |
Het |
| Nup35 |
T |
C |
2: 80,487,487 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pdlim5 |
C |
T |
3: 141,964,978 (GRCm39) |
S417N |
probably benign |
Het |
| Pla2g4f |
A |
G |
2: 120,134,153 (GRCm39) |
S478P |
probably damaging |
Het |
| Plekhn1 |
G |
A |
4: 156,307,856 (GRCm39) |
R357W |
probably damaging |
Het |
| Pom121 |
T |
C |
5: 135,410,842 (GRCm39) |
T772A |
unknown |
Het |
| Pramel20 |
A |
G |
4: 143,297,732 (GRCm39) |
I51V |
probably benign |
Het |
| Rasgef1a |
A |
T |
6: 118,062,436 (GRCm39) |
H232L |
possibly damaging |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Syt9 |
A |
G |
7: 107,024,428 (GRCm39) |
N107S |
probably damaging |
Het |
| Traf3 |
T |
C |
12: 111,215,036 (GRCm39) |
S202P |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,994,143 (GRCm39) |
E502G |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Zfp770 |
G |
A |
2: 114,027,365 (GRCm39) |
L235F |
probably damaging |
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 |
|
|
R5293:Mmp19
|
UTSW |
10 |
128,626,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGGACTTCCCTGAGTGATGC -3'
(R):5'- TCACCATAGAGAGCCTGGATCC -3'
Sequencing Primer
(F):5'- ATGAAACCCACTGTGCTTCTGAG -3'
(R):5'- GGATCCCTGCCACATCATCTGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation