Incidental Mutation 'IGL01510:Mmp12'
ID |
89161 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mmp12
|
Ensembl Gene |
ENSMUSG00000049723 |
Gene Name |
matrix metallopeptidase 12 |
Synonyms |
MMP12, Mmel, macrophage elastase |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
IGL01510
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
7344397-7360461 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 7358307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 468
(T468A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005950
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005950]
[ENSMUST00000065079]
[ENSMUST00000120655]
[ENSMUST00000127722]
|
AlphaFold |
P34960 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005950
AA Change: T468A
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000005950 Gene: ENSMUSG00000049723 AA Change: T468A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
Pfam:PG_binding_1
|
30 |
91 |
7.6e-22 |
PFAM |
ZnMc
|
109 |
268 |
2.76e-57 |
SMART |
low complexity region
|
269 |
284 |
N/A |
INTRINSIC |
HX
|
292 |
334 |
1.44e-6 |
SMART |
HX
|
336 |
379 |
2.03e-6 |
SMART |
HX
|
384 |
431 |
2.29e-14 |
SMART |
HX
|
433 |
473 |
2.94e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000065079
|
SMART Domains |
Protein: ENSMUSP00000065291 Gene: ENSMUSG00000049723
Domain | Start | End | E-Value | Type |
Pfam:PG_binding_1
|
30 |
91 |
6.5e-22 |
PFAM |
ZnMc
|
109 |
268 |
1.23e-54 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120655
AA Change: T398A
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000114129 Gene: ENSMUSG00000049723 AA Change: T398A
Domain | Start | End | E-Value | Type |
Pfam:PG_binding_1
|
1 |
21 |
9.1e-9 |
PFAM |
ZnMc
|
39 |
198 |
2.76e-57 |
SMART |
low complexity region
|
199 |
214 |
N/A |
INTRINSIC |
HX
|
222 |
264 |
1.44e-6 |
SMART |
HX
|
266 |
309 |
2.03e-6 |
SMART |
HX
|
314 |
361 |
2.29e-14 |
SMART |
HX
|
363 |
403 |
2.94e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127722
|
SMART Domains |
Protein: ENSMUSP00000120225 Gene: ENSMUSG00000049723
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148005
|
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 have a diminished capacity to degrade extracellular matrix components, do not develop emphysema in response to long-term exposure to cigarette smoke, and exhibit impaired clearance and increased mortality upon bacterial infection. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased sensitivity to cigarette smoke, decreased littler size, abnormal myelination, abnormal macrophage physiology, and decreased oligodedrocytes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,143,979 (GRCm39) |
Q6R |
probably damaging |
Het |
Adam5 |
A |
T |
8: 25,294,481 (GRCm39) |
C373S |
probably damaging |
Het |
Adgre4 |
T |
C |
17: 56,125,760 (GRCm39) |
|
probably null |
Het |
Akap10 |
A |
T |
11: 61,768,846 (GRCm39) |
M614K |
possibly damaging |
Het |
Amigo2 |
T |
C |
15: 97,142,962 (GRCm39) |
T487A |
probably benign |
Het |
Asap1 |
T |
C |
15: 64,030,777 (GRCm39) |
D300G |
probably damaging |
Het |
Atp4a |
C |
A |
7: 30,420,216 (GRCm39) |
L788M |
probably benign |
Het |
Bcl3 |
T |
A |
7: 19,543,539 (GRCm39) |
H309L |
probably damaging |
Het |
Cblc |
T |
C |
7: 19,519,200 (GRCm39) |
N376S |
probably benign |
Het |
Cd200r2 |
A |
T |
16: 44,729,674 (GRCm39) |
I110L |
probably benign |
Het |
Ceacam3 |
T |
C |
7: 16,893,767 (GRCm39) |
M426T |
probably benign |
Het |
Cep295 |
G |
A |
9: 15,265,922 (GRCm39) |
R29* |
probably null |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Ctps1 |
G |
T |
4: 120,416,041 (GRCm39) |
T194K |
probably damaging |
Het |
Cul3 |
A |
G |
1: 80,260,396 (GRCm39) |
S318P |
probably damaging |
Het |
Fasl |
A |
T |
1: 161,609,522 (GRCm39) |
S155T |
possibly damaging |
Het |
Gldc |
C |
T |
19: 30,091,121 (GRCm39) |
|
probably null |
Het |
Gpr21 |
T |
A |
2: 37,408,433 (GRCm39) |
C326* |
probably null |
Het |
Gtf2a1 |
A |
G |
12: 91,534,607 (GRCm39) |
S216P |
probably benign |
Het |
Hoxb5 |
A |
T |
11: 96,194,818 (GRCm39) |
S127C |
possibly damaging |
Het |
Htt |
A |
T |
5: 35,064,856 (GRCm39) |
Q3023L |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,055,700 (GRCm39) |
H855L |
possibly damaging |
Het |
Lars1 |
T |
C |
18: 42,375,174 (GRCm39) |
I289V |
probably benign |
Het |
Lrig3 |
C |
A |
10: 125,844,567 (GRCm39) |
T677K |
probably damaging |
Het |
Mapk7 |
A |
T |
11: 61,381,986 (GRCm39) |
W309R |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,412,798 (GRCm39) |
N1915Y |
unknown |
Het |
Naprt |
A |
G |
15: 75,762,837 (GRCm39) |
|
probably benign |
Het |
Nfatc1 |
T |
C |
18: 80,741,403 (GRCm39) |
Y199C |
probably damaging |
Het |
Or7e166 |
A |
T |
9: 19,624,575 (GRCm39) |
I151F |
probably benign |
Het |
Or8g51 |
T |
C |
9: 38,609,201 (GRCm39) |
I158V |
probably benign |
Het |
Phip |
T |
A |
9: 82,795,924 (GRCm39) |
I566F |
probably benign |
Het |
Pnpla3 |
T |
A |
15: 84,055,273 (GRCm39) |
|
probably benign |
Het |
Ptpn13 |
C |
T |
5: 103,710,166 (GRCm39) |
T1567I |
probably damaging |
Het |
Ptpn20 |
A |
G |
14: 33,360,343 (GRCm39) |
|
probably null |
Het |
Ptprq |
G |
T |
10: 107,547,909 (GRCm39) |
T163K |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,955,794 (GRCm39) |
C415R |
probably damaging |
Het |
Slco4c1 |
A |
G |
1: 96,795,678 (GRCm39) |
S127P |
probably damaging |
Het |
Tcerg1l |
A |
T |
7: 137,996,034 (GRCm39) |
|
probably benign |
Het |
Thbd |
C |
T |
2: 148,248,894 (GRCm39) |
V325M |
probably damaging |
Het |
Trim37 |
G |
A |
11: 87,068,686 (GRCm39) |
R344H |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,703,109 (GRCm39) |
|
probably benign |
Het |
Uvrag |
G |
A |
7: 98,653,796 (GRCm39) |
Q65* |
probably null |
Het |
Wrap53 |
G |
A |
11: 69,453,566 (GRCm39) |
S342L |
possibly damaging |
Het |
Zbtb11 |
T |
G |
16: 55,810,706 (GRCm39) |
V288G |
probably damaging |
Het |
|
Other mutations in Mmp12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03047:Mmp12
|
APN |
9 |
7,357,797 (GRCm39) |
splice site |
probably benign |
|
IGL03224:Mmp12
|
APN |
9 |
7,350,002 (GRCm39) |
unclassified |
probably benign |
|
IGL03247:Mmp12
|
APN |
9 |
7,348,631 (GRCm39) |
missense |
probably benign |
0.05 |
R0050:Mmp12
|
UTSW |
9 |
7,350,152 (GRCm39) |
unclassified |
probably benign |
|
R0480:Mmp12
|
UTSW |
9 |
7,350,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R0729:Mmp12
|
UTSW |
9 |
7,358,290 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0800:Mmp12
|
UTSW |
9 |
7,357,827 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1114:Mmp12
|
UTSW |
9 |
7,358,289 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1441:Mmp12
|
UTSW |
9 |
7,354,787 (GRCm39) |
missense |
probably damaging |
0.98 |
R1765:Mmp12
|
UTSW |
9 |
7,354,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R2071:Mmp12
|
UTSW |
9 |
7,349,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R2102:Mmp12
|
UTSW |
9 |
7,349,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R2882:Mmp12
|
UTSW |
9 |
7,358,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R2936:Mmp12
|
UTSW |
9 |
7,357,819 (GRCm39) |
missense |
probably benign |
|
R4645:Mmp12
|
UTSW |
9 |
7,347,515 (GRCm39) |
missense |
probably benign |
0.04 |
R5210:Mmp12
|
UTSW |
9 |
7,349,729 (GRCm39) |
nonsense |
probably null |
|
R5499:Mmp12
|
UTSW |
9 |
7,353,000 (GRCm39) |
missense |
probably benign |
0.02 |
R5774:Mmp12
|
UTSW |
9 |
7,354,823 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5778:Mmp12
|
UTSW |
9 |
7,350,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R5841:Mmp12
|
UTSW |
9 |
7,347,501 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5869:Mmp12
|
UTSW |
9 |
7,348,446 (GRCm39) |
intron |
probably benign |
|
R6044:Mmp12
|
UTSW |
9 |
7,350,050 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6494:Mmp12
|
UTSW |
9 |
7,353,479 (GRCm39) |
missense |
probably damaging |
0.99 |
R6651:Mmp12
|
UTSW |
9 |
7,355,345 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7057:Mmp12
|
UTSW |
9 |
7,369,173 (GRCm39) |
missense |
probably benign |
0.33 |
R7057:Mmp12
|
UTSW |
9 |
7,357,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R8938:Mmp12
|
UTSW |
9 |
7,348,446 (GRCm39) |
intron |
probably benign |
|
R9024:Mmp12
|
UTSW |
9 |
7,355,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R9630:Mmp12
|
UTSW |
9 |
7,347,516 (GRCm39) |
missense |
probably benign |
0.02 |
X0062:Mmp12
|
UTSW |
9 |
7,353,013 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2013-12-03 |