Incidental Mutation 'R9734:Mmp25'
| ID |
731621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp25
|
| Ensembl Gene |
ENSMUSG00000023903 |
| Gene Name |
matrix metallopeptidase 25 |
| Synonyms |
MT6-MMP, Leukolysin, F730048C11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R9734 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23847289-23864243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23850834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 367
(V367M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024696]
|
| AlphaFold |
Q3U435 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024696
AA Change: V367M
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000024696
Gene: ENSMUSG00000023903
AA Change: V367M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
75 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
82 |
140 |
8.8e-12 |
PFAM |
|
ZnMc
|
166 |
335 |
1.68e-47 |
SMART |
|
low complexity region
|
343 |
369 |
N/A |
INTRINSIC |
|
HX
|
375 |
419 |
6.35e-8 |
SMART |
|
HX
|
424 |
466 |
1.62e-5 |
SMART |
|
HX
|
470 |
516 |
1.64e-10 |
SMART |
|
HX
|
518 |
562 |
2.79e-4 |
SMART |
|
low complexity region
|
572 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
607 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.8%
|
| 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 precursor undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
T |
A |
4: 152,345,474 (GRCm39) |
V348E |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,763,199 (GRCm39) |
L1270P |
probably damaging |
Het |
| Akap12 |
C |
T |
10: 4,305,929 (GRCm39) |
T1018M |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Bod1l |
A |
T |
5: 41,962,573 (GRCm39) |
D2721E |
possibly damaging |
Het |
| Bri3bp |
G |
T |
5: 125,518,736 (GRCm39) |
R4L |
unknown |
Het |
| Cnbd2 |
T |
A |
2: 156,180,540 (GRCm39) |
N241K |
possibly damaging |
Het |
| Cpne2 |
A |
G |
8: 95,295,228 (GRCm39) |
I438V |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,962 (GRCm39) |
T732A |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dbt |
T |
C |
3: 116,339,704 (GRCm39) |
V364A |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,231,898 (GRCm39) |
V412A |
probably benign |
Het |
| Fsip1 |
T |
A |
2: 118,070,916 (GRCm39) |
Q258L |
probably benign |
Het |
| Gabrg3 |
A |
G |
7: 56,634,908 (GRCm39) |
Y92H |
probably damaging |
Het |
| Grid1 |
C |
A |
14: 35,302,742 (GRCm39) |
D1002E |
probably benign |
Het |
| Guf1 |
T |
A |
5: 69,726,605 (GRCm39) |
C565* |
probably null |
Het |
| Iqce |
G |
T |
5: 140,678,564 (GRCm39) |
R127S |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,682,320 (GRCm39) |
E1095D |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,365,830 (GRCm39) |
G1445W |
probably damaging |
Het |
| Mucl3 |
T |
A |
17: 35,949,233 (GRCm39) |
D122V |
probably benign |
Het |
| Or10d4c |
T |
C |
9: 39,558,202 (GRCm39) |
F60S |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,584,239 (GRCm39) |
I167N |
probably benign |
Het |
| Pramel30 |
A |
G |
4: 144,057,737 (GRCm39) |
M115V |
probably benign |
Het |
| Rusc1 |
A |
T |
3: 88,996,496 (GRCm39) |
S696T |
probably damaging |
Het |
| Scamp2 |
T |
G |
9: 57,490,175 (GRCm39) |
F225V |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,064,560 (GRCm39) |
H210R |
possibly damaging |
Het |
| Vil1 |
T |
C |
1: 74,454,309 (GRCm39) |
I24T |
possibly damaging |
Het |
| Vmn1r218 |
T |
A |
13: 23,321,034 (GRCm39) |
L127H |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,492 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,757 (GRCm39) |
T332S |
possibly damaging |
Het |
| Zfp366 |
A |
G |
13: 99,365,352 (GRCm39) |
Y171C |
probably damaging |
Het |
|
| Other mutations in Mmp25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02814:Mmp25
|
APN |
17 |
23,858,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02893:Mmp25
|
APN |
17 |
23,863,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0471:Mmp25
|
UTSW |
17 |
23,858,858 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0478:Mmp25
|
UTSW |
17 |
23,851,756 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1829:Mmp25
|
UTSW |
17 |
23,858,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2005:Mmp25
|
UTSW |
17 |
23,859,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Mmp25
|
UTSW |
17 |
23,850,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Mmp25
|
UTSW |
17 |
23,850,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Mmp25
|
UTSW |
17 |
23,850,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2937:Mmp25
|
UTSW |
17 |
23,863,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4418:Mmp25
|
UTSW |
17 |
23,863,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Mmp25
|
UTSW |
17 |
23,863,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4905:Mmp25
|
UTSW |
17 |
23,863,022 (GRCm39) |
nonsense |
probably null |
|
|
R5535:Mmp25
|
UTSW |
17 |
23,863,734 (GRCm39) |
missense |
probably benign |
|
|
R5592:Mmp25
|
UTSW |
17 |
23,859,176 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5888:Mmp25
|
UTSW |
17 |
23,850,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6261:Mmp25
|
UTSW |
17 |
23,849,768 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6263:Mmp25
|
UTSW |
17 |
23,849,768 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6264:Mmp25
|
UTSW |
17 |
23,849,768 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6571:Mmp25
|
UTSW |
17 |
23,858,870 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7172:Mmp25
|
UTSW |
17 |
23,863,762 (GRCm39) |
missense |
probably benign |
|
|
R7467:Mmp25
|
UTSW |
17 |
23,863,756 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8109:Mmp25
|
UTSW |
17 |
23,863,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9300:Mmp25
|
UTSW |
17 |
23,851,728 (GRCm39) |
missense |
probably benign |
0.05 |
|
T0722:Mmp25
|
UTSW |
17 |
23,850,192 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Mmp25
|
UTSW |
17 |
23,849,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mmp25
|
UTSW |
17 |
23,863,111 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCATAAGATATATGCAGGGG -3'
(R):5'- TGTCAACCTTTGGCTCACAC -3'
Sequencing Primer
(F):5'- CCCATAAGATATATGCAGGGGGACTC -3'
(R):5'- CTTTGGCTCACACACATAGAGATG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation