Incidental Mutation 'R5774:Mmp12'
ID |
445564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmp12
|
Ensembl Gene |
ENSMUSG00000049723 |
Gene Name |
matrix metallopeptidase 12 |
Synonyms |
MMP12, Mmel, macrophage elastase |
MMRRC Submission |
043373-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R5774 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
7344397-7360461 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 7354823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 272
(I272T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005950]
[ENSMUST00000065079]
[ENSMUST00000120655]
[ENSMUST00000127722]
|
AlphaFold |
P34960 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005950
AA Change: I342T
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000005950 Gene: ENSMUSG00000049723 AA Change: I342T
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 |
possibly damaging
Transcript: ENSMUST00000120655
AA Change: I272T
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000114129 Gene: ENSMUSG00000049723 AA Change: I272T
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730507C01Rik |
C |
A |
12: 18,581,668 (GRCm39) |
L62M |
probably damaging |
Het |
Abcc9 |
G |
A |
6: 142,574,285 (GRCm39) |
T949I |
probably damaging |
Het |
Adam4 |
C |
T |
12: 81,467,460 (GRCm39) |
S387N |
probably damaging |
Het |
Akap11 |
T |
C |
14: 78,748,407 (GRCm39) |
S1327G |
probably damaging |
Het |
Arhgap1 |
A |
G |
2: 91,484,453 (GRCm39) |
T12A |
possibly damaging |
Het |
Arhgap28 |
A |
G |
17: 68,188,487 (GRCm39) |
S228P |
possibly damaging |
Het |
Atp6v1b2 |
A |
T |
8: 69,554,613 (GRCm39) |
D106V |
probably damaging |
Het |
Atp9b |
T |
G |
18: 80,977,147 (GRCm39) |
D3A |
probably damaging |
Het |
Bptf |
A |
G |
11: 107,001,963 (GRCm39) |
F383S |
probably damaging |
Het |
Cdh24 |
T |
C |
14: 54,876,514 (GRCm39) |
T104A |
probably damaging |
Het |
Cep55 |
A |
G |
19: 38,051,103 (GRCm39) |
E171G |
probably damaging |
Het |
Cntrl |
T |
A |
2: 35,052,873 (GRCm39) |
M1126K |
probably benign |
Het |
Cts3 |
A |
T |
13: 61,716,184 (GRCm39) |
I59N |
probably damaging |
Het |
Ddx52 |
A |
G |
11: 83,836,960 (GRCm39) |
I150M |
probably damaging |
Het |
Dennd6a |
T |
C |
14: 26,300,974 (GRCm39) |
V62A |
probably benign |
Het |
Dpep1 |
C |
A |
8: 123,926,721 (GRCm39) |
D211E |
probably damaging |
Het |
Gm1527 |
T |
C |
3: 28,972,239 (GRCm39) |
V452A |
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,299,147 (GRCm39) |
V2831A |
possibly damaging |
Het |
Hrob |
T |
A |
11: 102,146,495 (GRCm39) |
I257N |
possibly damaging |
Het |
Hydin |
G |
T |
8: 111,298,547 (GRCm39) |
E3722* |
probably null |
Het |
Il17a |
A |
G |
1: 20,803,997 (GRCm39) |
S131G |
probably benign |
Het |
Ing3 |
C |
T |
6: 21,967,688 (GRCm39) |
P119S |
probably benign |
Het |
Larp4b |
T |
A |
13: 9,220,679 (GRCm39) |
|
probably null |
Het |
Lca5l |
G |
T |
16: 95,977,261 (GRCm39) |
Q177K |
probably benign |
Het |
Lrrc61 |
C |
T |
6: 48,545,133 (GRCm39) |
|
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,018,106 (GRCm39) |
Y188C |
probably damaging |
Het |
Mdk |
T |
C |
2: 91,761,569 (GRCm39) |
E36G |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,144,034 (GRCm39) |
K1135* |
probably null |
Het |
Nup188 |
T |
A |
2: 30,191,060 (GRCm39) |
Y96N |
probably damaging |
Het |
Or8k33 |
A |
T |
2: 86,384,351 (GRCm39) |
V39E |
possibly damaging |
Het |
Pank4 |
G |
A |
4: 155,065,119 (GRCm39) |
G806D |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,678,780 (GRCm39) |
Y396C |
probably damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,489,738 (GRCm39) |
I472N |
probably damaging |
Het |
Sema3a |
T |
A |
5: 13,573,131 (GRCm39) |
W220R |
probably damaging |
Het |
Slc35g3 |
A |
G |
11: 69,651,124 (GRCm39) |
V309A |
probably damaging |
Het |
Slc6a6 |
A |
G |
6: 91,721,981 (GRCm39) |
M394V |
probably damaging |
Het |
Specc1l |
G |
A |
10: 75,081,234 (GRCm39) |
R210H |
probably damaging |
Het |
Spocd1 |
T |
A |
4: 129,845,579 (GRCm39) |
S480T |
probably benign |
Het |
Sptbn5 |
T |
A |
2: 119,880,939 (GRCm39) |
|
noncoding transcript |
Het |
Srrm2 |
A |
G |
17: 24,037,249 (GRCm39) |
|
probably benign |
Het |
Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
Topbp1 |
A |
G |
9: 103,205,698 (GRCm39) |
K779E |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,220,294 (GRCm39) |
F2344I |
probably damaging |
Het |
Ttll5 |
GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC |
G |
12: 85,980,329 (GRCm39) |
|
probably null |
Het |
Ube4a |
G |
A |
9: 44,864,395 (GRCm39) |
P66L |
probably damaging |
Het |
Utp6 |
A |
T |
11: 79,844,424 (GRCm39) |
F200L |
probably benign |
Het |
Vmn2r117 |
A |
T |
17: 23,696,176 (GRCm39) |
H410Q |
probably damaging |
Het |
Vps33b |
C |
T |
7: 79,935,088 (GRCm39) |
H344Y |
probably benign |
Het |
Xpo5 |
C |
T |
17: 46,552,772 (GRCm39) |
R1145* |
probably null |
Het |
Zbed4 |
T |
A |
15: 88,665,852 (GRCm39) |
F640Y |
possibly damaging |
Het |
Zfp618 |
C |
T |
4: 63,050,799 (GRCm39) |
R527C |
probably damaging |
Het |
|
Other mutations in Mmp12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01510:Mmp12
|
APN |
9 |
7,358,307 (GRCm39) |
missense |
possibly damaging |
0.57 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAACCACTTTGCAAGTTCG -3'
(R):5'- AAAGGTGTGCATTTCCTGTAGAG -3'
Sequencing Primer
(F):5'- GTTTCATTTGCCTTCCGAAGAATG -3'
(R):5'- GTAGAGTTGGGCTTGTACAATTAAC -3'
|
Posted On |
2016-11-21 |