Incidental Mutation 'IGL01462:Mmp19'
| ID |
88011 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mmp19
|
| Ensembl Gene |
ENSMUSG00000025355 |
| Gene Name |
matrix metallopeptidase 19 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
IGL01462
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128626779-128636693 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128634011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 304
(T304I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026411]
[ENSMUST00000051011]
[ENSMUST00000139227]
[ENSMUST00000219404]
|
| AlphaFold |
Q9JHI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026411
AA Change: T304I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026411
Gene: ENSMUSG00000025355
AA Change: T304I
| 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 |
probably damaging
Transcript: ENSMUST00000219404
AA Change: T232I
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219535
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
C |
A |
6: 92,871,247 (GRCm39) |
A30S |
probably benign |
Het |
| Aspg |
A |
G |
12: 112,089,387 (GRCm39) |
T392A |
probably benign |
Het |
| Atp8b5 |
C |
A |
4: 43,368,010 (GRCm39) |
Q878K |
possibly damaging |
Het |
| Ccdc85a |
G |
T |
11: 28,526,506 (GRCm39) |
H339Q |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cog4 |
C |
T |
8: 111,592,717 (GRCm39) |
T430M |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,823,274 (GRCm39) |
Y28H |
unknown |
Het |
| Cth |
A |
T |
3: 157,610,804 (GRCm39) |
Y343N |
probably damaging |
Het |
| Dctn3 |
A |
T |
4: 41,719,854 (GRCm39) |
L84* |
probably null |
Het |
| Epha5 |
A |
T |
5: 84,219,092 (GRCm39) |
I868N |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,498,681 (GRCm39) |
N133D |
possibly damaging |
Het |
| Epor |
G |
A |
9: 21,870,752 (GRCm39) |
P376L |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,204,354 (GRCm39) |
V201A |
possibly damaging |
Het |
| Hdgf |
G |
A |
3: 87,821,831 (GRCm39) |
E149K |
possibly damaging |
Het |
| Lrrfip2 |
T |
C |
9: 111,034,917 (GRCm39) |
|
probably null |
Het |
| Ly6g6d |
T |
C |
17: 35,293,226 (GRCm39) |
I40V |
probably benign |
Het |
| Mlh3 |
G |
A |
12: 85,313,510 (GRCm39) |
T892I |
probably benign |
Het |
| Mmp28 |
T |
C |
11: 83,334,602 (GRCm39) |
D384G |
possibly damaging |
Het |
| Moxd1 |
T |
C |
10: 24,120,286 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
T |
G |
10: 29,024,254 (GRCm39) |
L390R |
probably damaging |
Het |
| Ncapg |
T |
C |
5: 45,828,477 (GRCm39) |
V76A |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,005,774 (GRCm39) |
R165C |
probably benign |
Het |
| Or1e1c |
T |
C |
11: 73,265,578 (GRCm39) |
M1T |
probably null |
Het |
| Or2a57 |
A |
G |
6: 43,212,559 (GRCm39) |
T6A |
possibly damaging |
Het |
| Pik3c2a |
T |
A |
7: 115,975,485 (GRCm39) |
H694L |
possibly damaging |
Het |
| Psme2 |
A |
G |
14: 55,827,128 (GRCm39) |
L60P |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,237,175 (GRCm39) |
V4A |
probably benign |
Het |
| Rgr |
G |
T |
14: 36,766,566 (GRCm39) |
T160K |
probably damaging |
Het |
| Serpind1 |
A |
G |
16: 17,154,787 (GRCm39) |
I205V |
probably benign |
Het |
| Skap2 |
T |
C |
6: 51,898,280 (GRCm39) |
Y150C |
probably damaging |
Het |
| Srsf9 |
T |
C |
5: 115,470,187 (GRCm39) |
S122P |
probably damaging |
Het |
| Stox1 |
T |
G |
10: 62,500,461 (GRCm39) |
I700L |
probably benign |
Het |
| Tada1 |
A |
G |
1: 166,216,294 (GRCm39) |
D165G |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,731,828 (GRCm39) |
S338P |
probably benign |
Het |
| Trim39 |
G |
A |
17: 36,574,617 (GRCm39) |
|
probably benign |
Het |
| Wbp2 |
G |
A |
11: 115,972,066 (GRCm39) |
A130V |
possibly damaging |
Het |
| Zcchc17 |
T |
C |
4: 130,230,902 (GRCm39) |
K96E |
probably benign |
Het |
| Zfp800 |
G |
A |
6: 28,242,983 (GRCm39) |
L661F |
possibly damaging |
Het |
|
| Other mutations in Mmp19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation