Incidental Mutation 'R5869:Mmp12'
| ID |
490493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp12
|
| Ensembl Gene |
ENSMUSG00000049723 |
| Gene Name |
matrix metallopeptidase 12 |
| Synonyms |
MMP12, Mmel, macrophage elastase |
| MMRRC Submission |
044077-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R5869 (G1)
|
| Quality Score |
122 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7344397-7360461 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
GTAATAATAATAATAATAAT to GTAATAATAATAATAAT
at 7348446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005950]
[ENSMUST00000065079]
[ENSMUST00000120655]
[ENSMUST00000127722]
[ENSMUST00000150167]
|
| AlphaFold |
P34960 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005950
|
| SMART Domains |
Protein: ENSMUSP00000005950
Gene: ENSMUSG00000049723
| 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
|
| SMART Domains |
Protein: ENSMUSP00000114129
Gene: ENSMUSG00000049723
| 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: ENSMUST00000138220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150167
|
| SMART Domains |
Protein: ENSMUSP00000116080
Gene: ENSMUSG00000049723
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
1 |
21 |
7.3e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
93% (68/73) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
C |
10: 77,161,450 (GRCm39) |
|
probably benign |
Het |
| Arsk |
T |
C |
13: 76,239,903 (GRCm39) |
E100G |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Aspscr1 |
T |
C |
11: 120,579,746 (GRCm39) |
I31T |
possibly damaging |
Het |
| Asz1 |
T |
C |
6: 18,074,939 (GRCm39) |
|
probably benign |
Het |
| Calm5 |
T |
A |
13: 3,904,321 (GRCm39) |
|
probably benign |
Het |
| Car5a |
G |
A |
8: 122,643,119 (GRCm39) |
T295I |
probably benign |
Het |
| Ccdc174 |
T |
A |
6: 91,862,399 (GRCm39) |
|
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,321,225 (GRCm39) |
A529V |
probably damaging |
Het |
| Cep192 |
A |
G |
18: 67,948,935 (GRCm39) |
D252G |
probably benign |
Het |
| Clcnka |
A |
G |
4: 141,122,276 (GRCm39) |
F217L |
probably benign |
Het |
| Cnot3 |
A |
T |
7: 3,647,929 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
A |
G |
5: 113,988,907 (GRCm39) |
|
probably benign |
Het |
| Cstf3 |
A |
G |
2: 104,489,585 (GRCm39) |
|
probably null |
Het |
| Dcdc2a |
C |
T |
13: 25,291,713 (GRCm39) |
P233S |
probably benign |
Het |
| Ddx55 |
A |
G |
5: 124,706,745 (GRCm39) |
T581A |
probably benign |
Het |
| Exo1 |
T |
C |
1: 175,728,849 (GRCm39) |
S638P |
possibly damaging |
Het |
| Fam135a |
T |
C |
1: 24,068,511 (GRCm39) |
E616G |
possibly damaging |
Het |
| Fignl2 |
T |
C |
15: 100,951,161 (GRCm39) |
S374G |
unknown |
Het |
| Gm4799 |
A |
T |
10: 82,790,283 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
T |
C |
5: 121,481,288 (GRCm39) |
|
probably null |
Het |
| Ighv1-76 |
T |
C |
12: 115,811,658 (GRCm39) |
E65G |
probably damaging |
Het |
| Igsf9b |
C |
A |
9: 27,234,531 (GRCm39) |
H465Q |
probably benign |
Het |
| Itga9 |
A |
G |
9: 118,492,957 (GRCm39) |
D284G |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,450,490 (GRCm39) |
S1940P |
probably benign |
Het |
| Kcnb1 |
A |
G |
2: 167,029,991 (GRCm39) |
S185P |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Krt1 |
A |
T |
15: 101,758,566 (GRCm39) |
F199L |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,539,271 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
C |
2: 40,894,615 (GRCm39) |
D2204E |
probably damaging |
Het |
| Mier3 |
T |
A |
13: 111,851,384 (GRCm39) |
N427K |
probably damaging |
Het |
| Mroh3 |
T |
A |
1: 136,113,861 (GRCm39) |
M643L |
probably benign |
Het |
| Myh11 |
A |
G |
16: 14,048,664 (GRCm39) |
S548P |
probably damaging |
Het |
| Nat8f6 |
A |
C |
6: 85,785,505 (GRCm39) |
L215V |
possibly damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,438,960 (GRCm39) |
R179Q |
probably damaging |
Het |
| Nup88 |
T |
C |
11: 70,860,497 (GRCm39) |
E94G |
probably benign |
Het |
| Pias1 |
A |
T |
9: 62,820,048 (GRCm39) |
D306E |
probably benign |
Het |
| Pick1 |
A |
G |
15: 79,133,095 (GRCm39) |
D385G |
probably benign |
Het |
| Pitx3 |
A |
T |
19: 46,125,735 (GRCm39) |
|
probably benign |
Het |
| Plpp3 |
T |
A |
4: 105,052,159 (GRCm39) |
|
probably null |
Het |
| Prlhr |
C |
A |
19: 60,456,059 (GRCm39) |
R169L |
probably damaging |
Het |
| Ptprf |
A |
C |
4: 118,067,579 (GRCm39) |
M1872R |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,604,939 (GRCm39) |
D35G |
probably benign |
Het |
| Rnf130 |
A |
G |
11: 49,976,642 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
A |
C |
14: 56,743,445 (GRCm39) |
E1337A |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,742,708 (GRCm39) |
Y734H |
probably damaging |
Het |
| Slc25a10 |
C |
T |
11: 120,388,943 (GRCm39) |
T269I |
probably damaging |
Het |
| Slc4a11 |
A |
C |
2: 130,526,379 (GRCm39) |
V855G |
probably benign |
Het |
| Slc5a5 |
C |
A |
8: 71,344,974 (GRCm39) |
R111L |
probably damaging |
Het |
| Spart |
A |
T |
3: 55,042,931 (GRCm39) |
M616L |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,954,686 (GRCm39) |
D356G |
probably damaging |
Het |
| Tmem30c |
A |
G |
16: 57,086,925 (GRCm39) |
S293P |
probably damaging |
Het |
| Tnfrsf14 |
C |
A |
4: 155,011,055 (GRCm39) |
|
probably null |
Het |
| Tnfrsf19 |
C |
T |
14: 61,208,627 (GRCm39) |
R298H |
possibly damaging |
Het |
| Ttc21a |
A |
G |
9: 119,787,858 (GRCm39) |
K809E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,580,553 (GRCm39) |
P23447S |
probably damaging |
Het |
| Uap1 |
T |
A |
1: 169,978,707 (GRCm39) |
|
probably null |
Het |
| Wdr82 |
A |
G |
9: 106,062,503 (GRCm39) |
Q252R |
probably benign |
Het |
| Zfp523 |
T |
C |
17: 28,413,967 (GRCm39) |
I34T |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,069 (GRCm39) |
H99Q |
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 |
|
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 |
|
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'- TCAAGTACCCGTATATACTAGATGC -3'
(R):5'- GAACTGCTGCATTTCCTGGAG -3'
Sequencing Primer
(F):5'- GATGCTAAAATGGCTCCTTAAAAACC -3'
(R):5'- ATTGGAATTCTGTCCTTTCCATAATC -3'
|
| Posted On |
2017-10-20 |
Incidental Mutation