Incidental Mutation 'R2181:Mmp28'
| ID |
237197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp28
|
| Ensembl Gene |
ENSMUSG00000020682 |
| Gene Name |
matrix metallopeptidase 28 (epilysin) |
| Synonyms |
epilysin |
| MMRRC Submission |
040183-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R2181 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83331594-83353890 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 83333543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 466
(V466G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021020]
[ENSMUST00000037378]
[ENSMUST00000103209]
[ENSMUST00000108137]
[ENSMUST00000119346]
[ENSMUST00000188702]
|
| AlphaFold |
Q8CGV8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021020
AA Change: V456G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021020
Gene: ENSMUSG00000020682
AA Change: V456G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
31 |
86 |
1e-11 |
PFAM |
|
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
|
ZnMc
|
126 |
285 |
3.92e-39 |
SMART |
|
HX
|
328 |
361 |
7.46e0 |
SMART |
|
HX
|
363 |
406 |
1.64e-1 |
SMART |
|
HX
|
408 |
454 |
1.78e-2 |
SMART |
|
HX
|
456 |
500 |
5.79e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037378
|
| SMART Domains |
Protein: ENSMUSP00000042098
Gene: ENSMUSG00000035085
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4637
|
5 |
169 |
1.3e-89 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103209
AA Change: V442G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099498
Gene: ENSMUSG00000020682
AA Change: V442G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
31 |
86 |
9.7e-12 |
PFAM |
|
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
|
ZnMc
|
126 |
285 |
3.92e-39 |
SMART |
|
HX
|
349 |
392 |
1.64e-1 |
SMART |
|
HX
|
394 |
440 |
1.78e-2 |
SMART |
|
HX
|
442 |
486 |
5.79e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108137
AA Change: V466G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103772
Gene: ENSMUSG00000020682
AA Change: V466G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
31 |
86 |
2.6e-11 |
PFAM |
|
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
|
ZnMc
|
126 |
285 |
3.92e-39 |
SMART |
|
HX
|
328 |
371 |
2.72e-7 |
SMART |
|
HX
|
373 |
416 |
1.64e-1 |
SMART |
|
HX
|
418 |
464 |
1.78e-2 |
SMART |
|
HX
|
466 |
510 |
5.79e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119346
|
| SMART Domains |
Protein: ENSMUSP00000112566
Gene: ENSMUSG00000020682
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
31 |
86 |
7.4e-12 |
PFAM |
|
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
|
ZnMc
|
126 |
285 |
3.92e-39 |
SMART |
|
HX
|
328 |
371 |
2.72e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188702
|
| SMART Domains |
Protein: ENSMUSP00000140664
Gene: ENSMUSG00000035085
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4637
|
6 |
111 |
2.8e-48 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Null homozygote mice have enhanced chemotaxis of macrophages into the lung upon infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
C |
T |
16: 3,724,950 (GRCm39) |
S43N |
possibly damaging |
Het |
| Abcb5 |
T |
G |
12: 118,831,681 (GRCm39) |
I1224L |
possibly damaging |
Het |
| Adgra2 |
G |
A |
8: 27,611,701 (GRCm39) |
G1002S |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,203,112 (GRCm39) |
T114A |
probably damaging |
Het |
| Colec12 |
T |
A |
18: 9,846,828 (GRCm39) |
S75T |
probably damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,597,541 (GRCm39) |
C486R |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,683,765 (GRCm39) |
L581Q |
probably damaging |
Het |
| Faxc |
T |
A |
4: 21,931,591 (GRCm39) |
S10T |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,482,008 (GRCm39) |
I1893T |
possibly damaging |
Het |
| Gabrr3 |
T |
A |
16: 59,268,372 (GRCm39) |
D328E |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,249,791 (GRCm39) |
I421V |
possibly damaging |
Het |
| Gorasp1 |
A |
G |
9: 119,757,422 (GRCm39) |
S317P |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,801,736 (GRCm39) |
S113P |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,520,951 (GRCm39) |
E168G |
probably damaging |
Het |
| Kdm6b |
A |
T |
11: 69,291,952 (GRCm39) |
Y1443* |
probably null |
Het |
| Nbea |
A |
T |
3: 55,937,360 (GRCm39) |
S750R |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Nelfa |
T |
C |
5: 34,057,853 (GRCm39) |
N314D |
probably benign |
Het |
| Numbl |
T |
A |
7: 26,968,346 (GRCm39) |
|
probably null |
Het |
| Or13c25 |
T |
A |
4: 52,911,524 (GRCm39) |
K90M |
probably damaging |
Het |
| Or1j17 |
G |
A |
2: 36,578,346 (GRCm39) |
D111N |
probably damaging |
Het |
| Or2p2 |
G |
T |
13: 21,257,394 (GRCm39) |
P26T |
probably damaging |
Het |
| Or52e5 |
T |
C |
7: 104,719,418 (GRCm39) |
V248A |
possibly damaging |
Het |
| Or5b113 |
G |
T |
19: 13,342,438 (GRCm39) |
V149F |
probably benign |
Het |
| Penk |
T |
C |
4: 4,134,041 (GRCm39) |
|
probably null |
Het |
| Pglyrp2 |
A |
G |
17: 32,637,936 (GRCm39) |
S31P |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,484,366 (GRCm39) |
S538P |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,433,815 (GRCm39) |
T252A |
possibly damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,509,098 (GRCm39) |
I394V |
probably benign |
Het |
| Sh3rf1 |
G |
T |
8: 61,816,272 (GRCm39) |
V510F |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,640,651 (GRCm39) |
H677R |
possibly damaging |
Het |
| Stam2 |
A |
T |
2: 52,593,156 (GRCm39) |
H345Q |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,284,835 (GRCm39) |
N600S |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,952,279 (GRCm39) |
|
probably null |
Het |
| Vmn1r72 |
A |
T |
7: 11,403,595 (GRCm39) |
C284* |
probably null |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,743 (GRCm39) |
I745V |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,468,392 (GRCm39) |
D2850A |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,005,671 (GRCm39) |
W36R |
probably damaging |
Het |
| Zfp804b |
G |
A |
5: 6,821,674 (GRCm39) |
T463I |
probably damaging |
Het |
| Zfp811 |
T |
G |
17: 33,016,695 (GRCm39) |
K448N |
probably damaging |
Het |
|
| Other mutations in Mmp28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01462:Mmp28
|
APN |
11 |
83,334,602 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02559:Mmp28
|
APN |
11 |
83,338,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0399:Mmp28
|
UTSW |
11 |
83,342,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Mmp28
|
UTSW |
11 |
83,334,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1432:Mmp28
|
UTSW |
11 |
83,333,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Mmp28
|
UTSW |
11 |
83,335,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5346:Mmp28
|
UTSW |
11 |
83,333,489 (GRCm39) |
missense |
probably benign |
|
|
R5532:Mmp28
|
UTSW |
11 |
83,333,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5548:Mmp28
|
UTSW |
11 |
83,334,733 (GRCm39) |
nonsense |
probably null |
|
|
R7580:Mmp28
|
UTSW |
11 |
83,335,658 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7882:Mmp28
|
UTSW |
11 |
83,334,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8957:Mmp28
|
UTSW |
11 |
83,334,636 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9171:Mmp28
|
UTSW |
11 |
83,335,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9745:Mmp28
|
UTSW |
11 |
83,342,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGGGAGCCTTCAGAACAG -3'
(R):5'- CACAGGGAATCGTTGTTGGAGG -3'
Sequencing Primer
(F):5'- GAGCCTTCAGAACAGGGCAC -3'
(R):5'- AGGTTCCAGGGCACGAAGTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation