Incidental Mutation 'R6571:Mmp25'
| ID |
526251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp25
|
| Ensembl Gene |
ENSMUSG00000023903 |
| Gene Name |
matrix metallopeptidase 25 |
| Synonyms |
MT6-MMP, Leukolysin, F730048C11Rik |
| MMRRC Submission |
044695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R6571 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23847289-23864243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23858870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 227
(H227R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024696]
|
| AlphaFold |
Q3U435 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024696
AA Change: H227R
PolyPhen 2
Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000024696
Gene: ENSMUSG00000023903
AA Change: H227R
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
94% (31/33) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,216,390 (GRCm39) |
I161V |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,065,187 (GRCm39) |
F24S |
probably benign |
Het |
| Bche |
G |
T |
3: 73,608,824 (GRCm39) |
Q201K |
probably benign |
Het |
| Camsap1 |
A |
T |
2: 25,829,512 (GRCm39) |
D757E |
possibly damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Dab2ip |
T |
C |
2: 35,602,902 (GRCm39) |
S399P |
probably damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,789,668 (GRCm39) |
C481S |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,665,349 (GRCm39) |
T923S |
probably damaging |
Het |
| Gm11437 |
T |
C |
11: 84,047,038 (GRCm39) |
D147G |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,937,999 (GRCm39) |
E427G |
probably damaging |
Het |
| Gm6401 |
T |
A |
14: 41,787,452 (GRCm39) |
I125F |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,491,189 (GRCm39) |
|
probably null |
Het |
| Inpp4a |
T |
C |
1: 37,426,839 (GRCm39) |
M600T |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,458,800 (GRCm39) |
E374G |
probably damaging |
Het |
| Lrba |
A |
C |
3: 86,267,367 (GRCm39) |
S1686R |
probably damaging |
Het |
| Map3k4 |
T |
C |
17: 12,461,579 (GRCm39) |
D1200G |
possibly damaging |
Het |
| Or6c38 |
A |
C |
10: 128,928,990 (GRCm39) |
N284K |
probably damaging |
Het |
| Papss2 |
G |
A |
19: 32,629,342 (GRCm39) |
|
probably null |
Het |
| Rasal2 |
T |
A |
1: 156,988,749 (GRCm39) |
R718S |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,620,707 (GRCm39) |
D394G |
probably benign |
Het |
| Rngtt |
T |
A |
4: 33,379,413 (GRCm39) |
D438E |
probably damaging |
Het |
| S1pr1 |
A |
G |
3: 115,505,452 (GRCm39) |
S381P |
possibly damaging |
Het |
| Septin8 |
A |
G |
11: 53,427,990 (GRCm39) |
E268G |
probably damaging |
Het |
| Slc6a21 |
A |
G |
7: 44,930,303 (GRCm39) |
K234R |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,783,737 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,433,752 (GRCm39) |
|
probably benign |
Het |
| Spag5 |
G |
T |
11: 78,212,095 (GRCm39) |
R1041I |
probably damaging |
Het |
| Spata31d1b |
A |
T |
13: 59,865,269 (GRCm39) |
M806L |
probably benign |
Het |
| Tnfrsf18 |
T |
A |
4: 156,112,776 (GRCm39) |
L154* |
probably null |
Het |
| Trib2 |
T |
C |
12: 15,844,060 (GRCm39) |
E194G |
probably damaging |
Het |
| Vmn2r33 |
A |
G |
7: 7,566,668 (GRCm39) |
V148A |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,578,298 (GRCm39) |
R405W |
probably damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,984,310 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R9734:Mmp25
|
UTSW |
17 |
23,850,834 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- TAGACAGATCTGAAGAGGCAGTCC -3'
(R):5'- GTGAGTACACTTTGCCTGGC -3'
Sequencing Primer
(F):5'- AGGCAGTCCCTCTGAAGATG -3'
(R):5'- ATTTCCTCCACAGCCACGGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation