Incidental Mutation 'R0800:Mmp12'
| ID |
76236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp12
|
| Ensembl Gene |
ENSMUSG00000049723 |
| Gene Name |
matrix metallopeptidase 12 |
| Synonyms |
MMP12, Mmel, macrophage elastase |
| MMRRC Submission |
038980-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R0800 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7344397-7360461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7357827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 414
(M414L)
|
| 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: M414L
PolyPhen 2
Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000005950
Gene: ENSMUSG00000049723
AA Change: M414L
| 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: M344L
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114129
Gene: ENSMUSG00000049723
AA Change: M344L
| 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
|
| Meta Mutation Damage Score |
0.0680 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.7%
|
| Validation Efficiency |
98% (52/53) |
| 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 |
|---|
| B230217C12Rik |
T |
C |
11: 97,732,086 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,317,265 (GRCm39) |
D1498G |
probably damaging |
Het |
| Ces3b |
T |
A |
8: 105,811,901 (GRCm39) |
D103E |
possibly damaging |
Het |
| Chd5 |
A |
G |
4: 152,440,614 (GRCm39) |
Y158C |
probably damaging |
Het |
| Cic |
A |
G |
7: 24,984,662 (GRCm39) |
T1033A |
probably benign |
Het |
| Cst13 |
A |
T |
2: 148,672,247 (GRCm39) |
I141F |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,604,855 (GRCm39) |
L1301P |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,923,636 (GRCm39) |
F1201L |
probably benign |
Het |
| Dok7 |
T |
C |
5: 35,232,633 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,774,171 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,699,877 (GRCm39) |
V1753A |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,887,583 (GRCm39) |
F538L |
possibly damaging |
Het |
| Fmo2 |
C |
T |
1: 162,704,383 (GRCm39) |
D508N |
probably benign |
Het |
| Gabpb1 |
A |
T |
2: 126,472,248 (GRCm39) |
Y351N |
probably damaging |
Het |
| Gnaq |
T |
A |
19: 16,312,428 (GRCm39) |
V230E |
probably damaging |
Het |
| Gprc5c |
A |
C |
11: 114,757,537 (GRCm39) |
K48Q |
probably damaging |
Het |
| Gzmd |
A |
G |
14: 56,369,948 (GRCm39) |
L11P |
unknown |
Het |
| Hbq1b |
A |
C |
11: 32,237,581 (GRCm39) |
H123P |
probably damaging |
Het |
| Hibadh |
T |
A |
6: 52,533,490 (GRCm39) |
I209F |
probably damaging |
Het |
| Il17f |
G |
T |
1: 20,848,177 (GRCm39) |
C100* |
probably null |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Itga8 |
A |
T |
2: 12,198,362 (GRCm39) |
V541E |
possibly damaging |
Het |
| Kifc5b |
T |
A |
17: 27,142,158 (GRCm39) |
V212D |
probably benign |
Het |
| Klra2 |
A |
T |
6: 131,207,137 (GRCm39) |
Y157* |
probably null |
Het |
| Kprp |
T |
C |
3: 92,732,342 (GRCm39) |
Y236C |
unknown |
Het |
| Myh6 |
A |
G |
14: 55,190,735 (GRCm39) |
|
probably benign |
Het |
| Nlgn2 |
A |
G |
11: 69,716,823 (GRCm39) |
F573L |
possibly damaging |
Het |
| Or10j7 |
C |
T |
1: 173,011,627 (GRCm39) |
A125T |
probably damaging |
Het |
| Or4c124 |
A |
G |
2: 89,156,008 (GRCm39) |
V172A |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,709,650 (GRCm39) |
D198E |
probably benign |
Het |
| Papss1 |
T |
A |
3: 131,305,615 (GRCm39) |
|
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,827,408 (GRCm39) |
T181A |
probably benign |
Het |
| Piwil2 |
A |
T |
14: 70,646,486 (GRCm39) |
|
probably benign |
Het |
| Pla2g12b |
A |
G |
10: 59,239,642 (GRCm39) |
N17S |
probably benign |
Het |
| Polr3c |
C |
A |
3: 96,626,627 (GRCm39) |
V266L |
probably damaging |
Het |
| Pou3f3 |
A |
G |
1: 42,737,527 (GRCm39) |
T408A |
probably damaging |
Het |
| Pskh1 |
A |
G |
8: 106,640,238 (GRCm39) |
Y306C |
probably damaging |
Het |
| Rom1 |
T |
A |
19: 8,906,272 (GRCm39) |
D89V |
probably damaging |
Het |
| Sell |
T |
A |
1: 163,893,770 (GRCm39) |
|
probably null |
Het |
| Sox6 |
A |
G |
7: 115,178,249 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
C |
1: 75,400,133 (GRCm39) |
S2527P |
probably damaging |
Het |
| Stat3 |
A |
G |
11: 100,784,981 (GRCm39) |
|
probably benign |
Het |
| Stra6l |
A |
G |
4: 45,882,797 (GRCm39) |
T503A |
probably benign |
Het |
| Tapbp |
A |
G |
17: 34,145,227 (GRCm39) |
T375A |
probably benign |
Het |
| Tgm6 |
G |
A |
2: 129,985,342 (GRCm39) |
V382M |
possibly damaging |
Het |
| Trappc9 |
A |
T |
15: 72,824,981 (GRCm39) |
|
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,675,240 (GRCm39) |
N131S |
possibly damaging |
Het |
| Usp19 |
A |
G |
9: 108,372,353 (GRCm39) |
E469G |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,575,192 (GRCm39) |
|
probably benign |
Het |
| Zfp750 |
T |
C |
11: 121,402,838 (GRCm39) |
T637A |
probably benign |
Het |
| Zhx2 |
A |
C |
15: 57,686,124 (GRCm39) |
I498L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCCAGAAATATGCTTGACTGGAG -3'
(R):5'- ACAGCAGGACAATTGCCATGTGAC -3'
Sequencing Primer
(F):5'- GCTTGACTGGAGTCTACGAAATTC -3'
(R):5'- TTGCCATGTGACACTGACAG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation