Incidental Mutation 'R5535:Mmp25'
| ID |
434797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp25
|
| Ensembl Gene |
ENSMUSG00000023903 |
| Gene Name |
matrix metallopeptidase 25 |
| Synonyms |
MT6-MMP, Leukolysin, F730048C11Rik |
| MMRRC Submission |
043093-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R5535 (G1)
|
| Quality Score |
183 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23847289-23864243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23863734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 32
(L32P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024696]
|
| AlphaFold |
Q3U435 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024696
AA Change: L32P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024696
Gene: ENSMUSG00000023903
AA Change: L32P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
C |
T |
9: 118,977,474 (GRCm39) |
G403S |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,640,350 (GRCm39) |
V699I |
probably benign |
Het |
| Amer2 |
AAGGAGGAGGAGGAG |
AAGGAGGAGGAG |
14: 60,616,302 (GRCm39) |
|
probably benign |
Het |
| Bace2 |
A |
T |
16: 97,214,625 (GRCm39) |
Q271L |
probably damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,662,445 (GRCm39) |
K493E |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,778,196 (GRCm39) |
D222E |
probably benign |
Het |
| Ckap2l |
A |
G |
2: 129,127,762 (GRCm39) |
C139R |
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,138,257 (GRCm39) |
H485R |
probably benign |
Het |
| Cntfr |
T |
A |
4: 41,663,216 (GRCm39) |
D197V |
probably benign |
Het |
| Efcab5 |
A |
G |
11: 77,042,747 (GRCm39) |
L2P |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,152,132 (GRCm39) |
V163A |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Flrt2 |
A |
G |
12: 95,747,200 (GRCm39) |
T513A |
probably benign |
Het |
| Gm10801 |
GT |
GTTTTT |
2: 98,492,844 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
T |
12: 51,849,109 (GRCm39) |
F332I |
probably damaging |
Het |
| Helz |
A |
G |
11: 107,536,946 (GRCm39) |
D947G |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,006,766 (GRCm39) |
D1121E |
probably benign |
Het |
| Hoxa13 |
GG |
GGCG |
6: 52,237,520 (GRCm39) |
|
probably null |
Homo |
| Hoxd13 |
A |
T |
2: 74,499,141 (GRCm39) |
Y163F |
probably damaging |
Het |
| Immt |
C |
A |
6: 71,829,768 (GRCm39) |
P158Q |
probably null |
Het |
| Kcnh5 |
A |
G |
12: 75,177,681 (GRCm39) |
S142P |
possibly damaging |
Het |
| Lnpep |
T |
G |
17: 17,758,956 (GRCm39) |
H796P |
probably benign |
Het |
| Mfhas1 |
C |
A |
8: 36,057,423 (GRCm39) |
R633S |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,772,127 (GRCm39) |
D299G |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,937,908 (GRCm39) |
E1739G |
probably damaging |
Het |
| Or8b44 |
T |
A |
9: 38,410,294 (GRCm39) |
S110T |
probably benign |
Het |
| Parp9 |
A |
G |
16: 35,777,195 (GRCm39) |
K147E |
probably damaging |
Het |
| Pcdha3 |
G |
T |
18: 37,080,989 (GRCm39) |
R577L |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,488,622 (GRCm39) |
I637N |
probably damaging |
Het |
| Polk |
T |
G |
13: 96,632,005 (GRCm39) |
S243R |
probably damaging |
Het |
| Prag1 |
T |
C |
8: 36,571,168 (GRCm39) |
S584P |
probably benign |
Het |
| Prex1 |
A |
T |
2: 166,422,193 (GRCm39) |
V43E |
possibly damaging |
Het |
| Rdh10 |
T |
C |
1: 16,201,408 (GRCm39) |
Y294H |
probably damaging |
Het |
| Rnf126 |
T |
A |
10: 79,598,533 (GRCm39) |
I28F |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,833,984 (GRCm39) |
H66L |
possibly damaging |
Het |
| Tet1 |
G |
T |
10: 62,668,686 (GRCm39) |
P1431Q |
probably damaging |
Het |
| Tmco2 |
T |
A |
4: 120,963,190 (GRCm39) |
Q103L |
possibly damaging |
Het |
| Ucp3 |
A |
T |
7: 100,129,873 (GRCm39) |
R172W |
probably benign |
Het |
| Unc79 |
A |
T |
12: 103,135,962 (GRCm39) |
I2270F |
possibly 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 |
|
|
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'- TTCTGTGTGATCCCAGTTGC -3'
(R):5'- AGCATATTGGGCAGTTGGC -3'
Sequencing Primer
(F):5'- ATCCCAGTTGCGGGTGGAC -3'
(R):5'- GACCTCTTTGCCGGACC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation