Incidental Mutation 'R6567:Mmp19'
| ID |
522766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp19
|
| Ensembl Gene |
ENSMUSG00000025355 |
| Gene Name |
matrix metallopeptidase 19 |
| Synonyms |
|
| MMRRC Submission |
044691-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
R6567 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128626779-128636693 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128632275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 191
(T191A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026411]
[ENSMUST00000051011]
[ENSMUST00000139227]
[ENSMUST00000219404]
|
| AlphaFold |
Q9JHI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026411
AA Change: T263A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026411
Gene: ENSMUSG00000025355
AA Change: T263A
| 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 |
probably benign
Transcript: ENSMUST00000139227
|
| SMART Domains |
Protein: ENSMUSP00000118082
Gene: ENSMUSG00000047090
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4203
|
42 |
96 |
4.5e-20 |
PFAM |
|
| 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: T191A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219535
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,950 (GRCm39) |
T546A |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,986,170 (GRCm39) |
V2485L |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,976,974 (GRCm39) |
I722M |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,638,100 (GRCm39) |
I54T |
possibly damaging |
Het |
| Dennd2c |
C |
T |
3: 103,039,335 (GRCm39) |
A161V |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,992,246 (GRCm39) |
Y331H |
probably damaging |
Het |
| Dnaaf11 |
C |
T |
15: 66,310,228 (GRCm39) |
V347I |
probably benign |
Het |
| Dnajc2 |
G |
A |
5: 21,971,676 (GRCm39) |
R247W |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,773,946 (GRCm39) |
T380A |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,576,508 (GRCm39) |
V1044A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,117,487 (GRCm39) |
H745R |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 191,959,412 (GRCm39) |
M322K |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,938,206 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
G |
T |
10: 29,023,279 (GRCm39) |
V209F |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,978,300 (GRCm39) |
I833T |
possibly damaging |
Het |
| Nif3l1 |
T |
A |
1: 58,494,789 (GRCm39) |
C253S |
probably benign |
Het |
| Or52e2 |
A |
T |
7: 102,804,135 (GRCm39) |
I273K |
possibly damaging |
Het |
| Pate5 |
T |
A |
9: 35,750,411 (GRCm39) |
Y87F |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,278,189 (GRCm39) |
I584N |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,865,786 (GRCm39) |
V50A |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,786,838 (GRCm39) |
I1268V |
probably benign |
Het |
| Scap |
C |
T |
9: 110,212,630 (GRCm39) |
R1021W |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,740,932 (GRCm39) |
Y618N |
probably damaging |
Het |
| Tesk2 |
C |
T |
4: 116,649,361 (GRCm39) |
A157V |
probably damaging |
Het |
| Tm6sf2 |
C |
A |
8: 70,528,174 (GRCm39) |
H108N |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,176,589 (GRCm39) |
V287A |
probably benign |
Het |
| Tsks |
A |
T |
7: 44,603,305 (GRCm39) |
Q369L |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,514,673 (GRCm39) |
T99A |
probably benign |
Het |
| Wbp11 |
C |
T |
6: 136,797,537 (GRCm39) |
S294N |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,628 (GRCm39) |
Y1104C |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,150 (GRCm39) |
S234T |
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 |
|
R5293:Mmp19
|
UTSW |
10 |
128,626,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTCCTTGCTGAGGCGAACTAAG -3'
(R):5'- AATCCCGTTACAGTCCCATGTC -3'
Sequencing Primer
(F):5'- AGGCGAACTAAGCTGTGTCTC -3'
(R):5'- TCTCTATTTGTCTAAGTCTTGGAGTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation