Incidental Mutation 'R0478:Mmp25'
| ID |
43222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp25
|
| Ensembl Gene |
ENSMUSG00000023903 |
| Gene Name |
matrix metallopeptidase 25 |
| Synonyms |
MT6-MMP, Leukolysin, F730048C11Rik |
| MMRRC Submission |
038678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R0478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23847289-23864243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23851756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 318
(T318A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024696]
|
| AlphaFold |
Q3U435 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024696
AA Change: T318A
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000024696
Gene: ENSMUSG00000023903
AA Change: T318A
| 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: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (49/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| 4930556J24Rik |
T |
G |
11: 3,926,259 (GRCm39) |
|
probably benign |
Het |
| Acnat1 |
T |
G |
4: 49,450,901 (GRCm39) |
D70A |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,172,549 (GRCm39) |
V620A |
probably benign |
Het |
| Aldoart1 |
T |
A |
4: 72,770,580 (GRCm39) |
H21L |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,860,348 (GRCm39) |
V290A |
probably damaging |
Het |
| Bpifb3 |
C |
T |
2: 153,773,400 (GRCm39) |
|
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Clmn |
A |
G |
12: 104,751,750 (GRCm39) |
M235T |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,642,917 (GRCm39) |
E245G |
possibly damaging |
Het |
| Epgn |
G |
T |
5: 91,178,987 (GRCm39) |
V36L |
probably benign |
Het |
| Ets2 |
C |
A |
16: 95,517,306 (GRCm39) |
P346Q |
probably damaging |
Het |
| Fam222b |
T |
C |
11: 78,044,682 (GRCm39) |
L81P |
probably damaging |
Het |
| Fancf |
A |
C |
7: 51,511,440 (GRCm39) |
L188R |
probably damaging |
Het |
| Fibin |
T |
C |
2: 110,193,079 (GRCm39) |
D21G |
possibly damaging |
Het |
| Fzd6 |
A |
G |
15: 38,897,429 (GRCm39) |
|
probably null |
Het |
| Gbp4 |
T |
A |
5: 105,267,299 (GRCm39) |
Q540L |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,509,281 (GRCm39) |
L531Q |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,715,423 (GRCm39) |
V137A |
probably benign |
Het |
| Kif26a |
G |
A |
12: 112,142,223 (GRCm39) |
A826T |
probably damaging |
Het |
| Kiz |
T |
C |
2: 146,784,078 (GRCm39) |
V537A |
possibly damaging |
Het |
| Klhl32 |
C |
T |
4: 24,792,777 (GRCm39) |
G15D |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lbp |
T |
C |
2: 158,159,448 (GRCm39) |
|
probably benign |
Het |
| Mrpl50 |
A |
G |
4: 49,514,513 (GRCm39) |
C53R |
probably damaging |
Het |
| Msl3l2 |
G |
C |
10: 55,991,411 (GRCm39) |
E45D |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,681,988 (GRCm39) |
|
probably null |
Het |
| Noc3l |
A |
G |
19: 38,798,450 (GRCm39) |
|
probably null |
Het |
| Or12e7 |
T |
A |
2: 87,288,370 (GRCm39) |
V287E |
probably damaging |
Het |
| Or1x6 |
T |
C |
11: 50,939,539 (GRCm39) |
S202P |
probably benign |
Het |
| Pgm5 |
A |
T |
19: 24,812,233 (GRCm39) |
S100T |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,127,175 (GRCm39) |
G1093S |
possibly damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,609,431 (GRCm39) |
S350T |
probably damaging |
Het |
| Ptk2b |
G |
T |
14: 66,450,821 (GRCm39) |
N48K |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,175,007 (GRCm39) |
L172P |
probably damaging |
Het |
| Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
| Sphkap |
C |
T |
1: 83,256,432 (GRCm39) |
R152H |
probably damaging |
Het |
| St3gal1 |
T |
C |
15: 66,985,579 (GRCm39) |
Y25C |
probably damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,795,932 (GRCm39) |
F175S |
probably damaging |
Het |
| Tfdp2 |
T |
A |
9: 96,172,636 (GRCm39) |
D43E |
probably benign |
Het |
| Tgm1 |
G |
A |
14: 55,937,791 (GRCm39) |
Q773* |
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,271,360 (GRCm39) |
R837S |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,103,792 (GRCm39) |
V880A |
possibly damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,535,081 (GRCm39) |
V268E |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,398,788 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
G |
T |
17: 21,940,995 (GRCm39) |
E57* |
probably null |
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 |
|
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 |
|
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'- AGGCTGGATAGGTCACACACTTACC -3'
(R):5'- TTGCAGGAATGTGGGACCGATG -3'
Sequencing Primer
(F):5'- GTCACACACTTACCTGTCAGGG -3'
(R):5'- GCCACTGGGTCAAATCCTTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation