Incidental Mutation 'R2400:Mmp11'
| ID |
248657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp11
|
| Ensembl Gene |
ENSMUSG00000000901 |
| Gene Name |
matrix metallopeptidase 11 |
| Synonyms |
stromelysin 3, ST3, Stmy3 |
| MMRRC Submission |
040366-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2400 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
75759056-75768336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75761344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 419
(T419S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000924]
[ENSMUST00000000925]
[ENSMUST00000120281]
[ENSMUST00000121304]
[ENSMUST00000132869]
[ENSMUST00000140388]
[ENSMUST00000219728]
|
| AlphaFold |
Q02853 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000924
AA Change: T419S
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000000924
Gene: ENSMUSG00000000901
AA Change: T419S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
ZnMc
|
105 |
263 |
2.58e-57 |
SMART |
|
HX
|
302 |
345 |
1.16e-10 |
SMART |
|
HX
|
347 |
388 |
1.27e-7 |
SMART |
|
HX
|
391 |
438 |
7.63e-11 |
SMART |
|
HX
|
440 |
484 |
6.91e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000925
|
| SMART Domains |
Protein: ENSMUSP00000000925
Gene: ENSMUSG00000000902
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HX
|
31 |
52 |
9e-8 |
BLAST |
|
Pfam:SNF5
|
179 |
254 |
1.1e-27 |
PFAM |
|
Pfam:SNF5
|
249 |
373 |
3.1e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120281
AA Change: T419S
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112940
Gene: ENSMUSG00000000901
AA Change: T419S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
ZnMc
|
105 |
263 |
2.58e-57 |
SMART |
|
HX
|
302 |
345 |
1.16e-10 |
SMART |
|
HX
|
347 |
388 |
1.27e-7 |
SMART |
|
HX
|
391 |
438 |
7.63e-11 |
SMART |
|
HX
|
440 |
484 |
6.91e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121304
|
| SMART Domains |
Protein: ENSMUSP00000112463
Gene: ENSMUSG00000000902
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HX
|
31 |
52 |
9e-8 |
BLAST |
|
Pfam:SNF5
|
169 |
364 |
1.7e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133897
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140388
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152222
AA Change: T56S
|
| SMART Domains |
Protein: ENSMUSP00000116279
Gene: ENSMUSG00000000901
AA Change: T56S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HX
|
2 |
26 |
1e-8 |
BLAST |
|
HX
|
29 |
76 |
7.63e-11 |
SMART |
|
HX
|
78 |
117 |
1.91e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219728
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the matrix metalloproteinase family of endopeptidases that are involved in remodeling extracellular matrix during, for example, embryonic development and tumor progression. The encoded protein undergoes post-translational proteolytic processing by furin endopeptidase to form an active enzyme. Subcutaneous introduction of cells expressing the encoded protein into nude mice results in increased tumor incidence. Mice lacking the encoded protein exhibit a decreased incidence of chemically-induced tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice exhibit a decreased incidence of DMBA-induced carcinomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 7530416G11Rik |
T |
C |
15: 85,377,566 (GRCm39) |
T133A |
unknown |
Het |
| Adgrl2 |
G |
T |
3: 148,557,570 (GRCm39) |
S519R |
probably damaging |
Het |
| AU041133 |
A |
T |
10: 81,986,742 (GRCm39) |
K132* |
probably null |
Het |
| Bhlhe22 |
A |
G |
3: 18,109,615 (GRCm39) |
N222D |
probably damaging |
Het |
| Cep72 |
C |
A |
13: 74,197,096 (GRCm39) |
A69S |
probably damaging |
Het |
| Csn1s2a |
T |
A |
5: 87,928,014 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,900,030 (GRCm39) |
F872I |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,567,845 (GRCm39) |
D746G |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 118,017,210 (GRCm39) |
|
probably null |
Het |
| Fgg |
A |
G |
3: 82,915,494 (GRCm39) |
D37G |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,386,941 (GRCm39) |
S958R |
probably benign |
Het |
| Gfpt1 |
A |
G |
6: 87,064,330 (GRCm39) |
D640G |
probably damaging |
Het |
| Golgb1 |
C |
A |
16: 36,738,828 (GRCm39) |
T2389K |
possibly damaging |
Het |
| Hmgcl |
C |
A |
4: 135,679,679 (GRCm39) |
|
probably null |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Nkiras1 |
T |
A |
14: 18,280,011 (GRCm38) |
V108E |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,238,245 (GRCm39) |
L22P |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,334,021 (GRCm39) |
Y3077H |
probably damaging |
Het |
| Sec62 |
A |
G |
3: 30,864,681 (GRCm39) |
N182D |
unknown |
Het |
| Serpinb5 |
A |
G |
1: 106,809,682 (GRCm39) |
T363A |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,036,110 (GRCm39) |
S197T |
probably benign |
Het |
| Vmn2r11 |
T |
A |
5: 109,199,928 (GRCm39) |
E508D |
probably benign |
Het |
| Wdr81 |
A |
G |
11: 75,339,861 (GRCm39) |
F1376L |
probably benign |
Het |
| Zfp260 |
T |
C |
7: 29,804,126 (GRCm39) |
S9P |
possibly damaging |
Het |
|
| Other mutations in Mmp11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01161:Mmp11
|
APN |
10 |
75,762,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01690:Mmp11
|
APN |
10 |
75,762,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01804:Mmp11
|
APN |
10 |
75,764,304 (GRCm39) |
missense |
probably benign |
|
|
R0285:Mmp11
|
UTSW |
10 |
75,761,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Mmp11
|
UTSW |
10 |
75,762,592 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0541:Mmp11
|
UTSW |
10 |
75,762,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Mmp11
|
UTSW |
10 |
75,764,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2442:Mmp11
|
UTSW |
10 |
75,763,079 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3157:Mmp11
|
UTSW |
10 |
75,762,948 (GRCm39) |
unclassified |
probably benign |
|
|
R3158:Mmp11
|
UTSW |
10 |
75,762,948 (GRCm39) |
unclassified |
probably benign |
|
|
R3159:Mmp11
|
UTSW |
10 |
75,762,948 (GRCm39) |
unclassified |
probably benign |
|
|
R4915:Mmp11
|
UTSW |
10 |
75,761,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Mmp11
|
UTSW |
10 |
75,761,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Mmp11
|
UTSW |
10 |
75,761,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5848:Mmp11
|
UTSW |
10 |
75,763,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Mmp11
|
UTSW |
10 |
75,762,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Mmp11
|
UTSW |
10 |
75,759,818 (GRCm39) |
makesense |
probably null |
|
|
R6569:Mmp11
|
UTSW |
10 |
75,763,216 (GRCm39) |
start gained |
probably benign |
|
|
R6753:Mmp11
|
UTSW |
10 |
75,764,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Mmp11
|
UTSW |
10 |
75,768,230 (GRCm39) |
unclassified |
probably benign |
|
|
R7146:Mmp11
|
UTSW |
10 |
75,764,280 (GRCm39) |
missense |
probably benign |
|
|
R7163:Mmp11
|
UTSW |
10 |
75,762,410 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7797:Mmp11
|
UTSW |
10 |
75,759,314 (GRCm39) |
missense |
|
|
|
R9197:Mmp11
|
UTSW |
10 |
75,763,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9443:Mmp11
|
UTSW |
10 |
75,762,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGGGCCATATGAAGTTG -3'
(R):5'- GAGCAGATCCACAGTGACTG -3'
Sequencing Primer
(F):5'- GCCATATGAAGTTGGGGGTC -3'
(R):5'- CAGTGGTGACTTGGCAGCTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation