Incidental Mutation 'R0595:Mmp10'
| ID |
55070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp10
|
| Ensembl Gene |
ENSMUSG00000047562 |
| Gene Name |
matrix metallopeptidase 10 |
| Synonyms |
stromelysin 2 |
| MMRRC Submission |
038785-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R0595 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7502353-7510241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 7508199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 442
(E442K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034488]
|
| AlphaFold |
O55123 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034488
AA Change: E442K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034488
Gene: ENSMUSG00000047562
AA Change: E442K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
27 |
87 |
3.2e-12 |
PFAM |
|
ZnMc
|
105 |
265 |
1.81e-61 |
SMART |
|
HX
|
295 |
337 |
2.03e-6 |
SMART |
|
HX
|
339 |
382 |
9.11e-9 |
SMART |
|
HX
|
387 |
434 |
8.49e-18 |
SMART |
|
HX
|
436 |
476 |
3.88e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
100% (50/50) |
| 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 preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. The lack of encoded protein in mice promotes experimental lung cancer formation, exacerbates experimental colitis and promotes development of inflammation-associated colonic dysplasia. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,790,417 (GRCm39) |
D1093E |
probably damaging |
Het |
| Aldh2 |
G |
T |
5: 121,711,563 (GRCm39) |
A276D |
probably damaging |
Het |
| Aldh2 |
C |
T |
5: 121,711,564 (GRCm39) |
A276T |
probably damaging |
Het |
| Aldh7a1 |
C |
T |
18: 56,679,965 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
C |
T |
7: 144,143,890 (GRCm39) |
R964H |
possibly damaging |
Het |
| Apob |
G |
A |
12: 8,058,369 (GRCm39) |
V2251I |
probably benign |
Het |
| Atp6v1e1 |
A |
G |
6: 120,778,091 (GRCm39) |
V148A |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,408,111 (GRCm39) |
H73Q |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,713 (GRCm39) |
V807A |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,540,001 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,321,703 (GRCm39) |
|
probably null |
Het |
| Cep152 |
T |
C |
2: 125,436,983 (GRCm39) |
Q519R |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,243,487 (GRCm39) |
Y1608* |
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,720,598 (GRCm39) |
I2619V |
unknown |
Het |
| Dnajb9 |
A |
G |
12: 44,255,067 (GRCm39) |
V7A |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,851,408 (GRCm39) |
K1358R |
unknown |
Het |
| Fbxw7 |
C |
A |
3: 84,884,674 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,777,296 (GRCm39) |
Y108H |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,328,493 (GRCm39) |
L331Q |
probably damaging |
Het |
| Ifitm1 |
T |
A |
7: 140,548,242 (GRCm39) |
I25N |
possibly damaging |
Het |
| Krt75 |
C |
T |
15: 101,476,789 (GRCm39) |
E367K |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,206,950 (GRCm39) |
Y487C |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,968,574 (GRCm39) |
G59W |
probably damaging |
Het |
| Mme |
A |
G |
3: 63,235,602 (GRCm39) |
T129A |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,235,672 (GRCm39) |
S646P |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,535,917 (GRCm39) |
I2889N |
probably benign |
Het |
| Nlrp4d |
T |
A |
7: 10,114,972 (GRCm39) |
K581N |
probably benign |
Het |
| Nr3c2 |
C |
T |
8: 77,636,233 (GRCm39) |
P445S |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,810,868 (GRCm39) |
N289K |
probably damaging |
Het |
| Pck1 |
T |
A |
2: 172,998,822 (GRCm39) |
V360E |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 115,744,203 (GRCm39) |
D766G |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,614,156 (GRCm39) |
N1236S |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,625,952 (GRCm39) |
Q3326P |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,073,189 (GRCm39) |
M57T |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,511,120 (GRCm39) |
F330I |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,180,089 (GRCm39) |
E448G |
possibly damaging |
Het |
| Scn10a |
T |
A |
9: 119,495,129 (GRCm39) |
M371L |
probably benign |
Het |
| Sgta |
T |
C |
10: 80,884,742 (GRCm39) |
D189G |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,091 (GRCm39) |
H413R |
probably benign |
Het |
| Stau2 |
T |
C |
1: 16,510,674 (GRCm39) |
T95A |
probably damaging |
Het |
| Supt4a |
C |
T |
11: 87,633,982 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,605,003 (GRCm39) |
|
probably null |
Het |
| Tap2 |
T |
A |
17: 34,431,328 (GRCm39) |
V422D |
probably damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,589,799 (GRCm39) |
L149P |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,062,645 (GRCm39) |
S692P |
probably damaging |
Het |
| Tgm2 |
C |
T |
2: 157,984,962 (GRCm39) |
R48H |
probably damaging |
Het |
| Ticrr |
T |
A |
7: 79,345,311 (GRCm39) |
F1725L |
possibly damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,778,670 (GRCm39) |
C672* |
probably null |
Het |
| Xkr9 |
A |
G |
1: 13,771,008 (GRCm39) |
I175V |
probably benign |
Het |
| Zfp428 |
T |
A |
7: 24,214,803 (GRCm39) |
S140T |
probably benign |
Het |
|
| Other mutations in Mmp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Mmp10
|
APN |
9 |
7,505,651 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Disco
|
UTSW |
9 |
7,504,170 (GRCm39) |
nonsense |
probably null |
|
|
steel
|
UTSW |
9 |
7,506,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
Strobe
|
UTSW |
9 |
7,508,199 (GRCm39) |
missense |
probably benign |
|
|
R0240:Mmp10
|
UTSW |
9 |
7,506,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Mmp10
|
UTSW |
9 |
7,506,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0503:Mmp10
|
UTSW |
9 |
7,507,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1222:Mmp10
|
UTSW |
9 |
7,505,682 (GRCm39) |
splice site |
probably benign |
|
|
R1487:Mmp10
|
UTSW |
9 |
7,509,978 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1622:Mmp10
|
UTSW |
9 |
7,504,996 (GRCm39) |
nonsense |
probably null |
|
|
R1669:Mmp10
|
UTSW |
9 |
7,505,526 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1806:Mmp10
|
UTSW |
9 |
7,506,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1880:Mmp10
|
UTSW |
9 |
7,505,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4749:Mmp10
|
UTSW |
9 |
7,508,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Mmp10
|
UTSW |
9 |
7,508,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5231:Mmp10
|
UTSW |
9 |
7,502,501 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5367:Mmp10
|
UTSW |
9 |
7,505,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5814:Mmp10
|
UTSW |
9 |
7,503,621 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6131:Mmp10
|
UTSW |
9 |
7,503,633 (GRCm39) |
splice site |
probably null |
|
|
R6542:Mmp10
|
UTSW |
9 |
7,506,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6997:Mmp10
|
UTSW |
9 |
7,503,531 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7400:Mmp10
|
UTSW |
9 |
7,503,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Mmp10
|
UTSW |
9 |
7,508,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Mmp10
|
UTSW |
9 |
7,503,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7676:Mmp10
|
UTSW |
9 |
7,503,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7830:Mmp10
|
UTSW |
9 |
7,507,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7967:Mmp10
|
UTSW |
9 |
7,504,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Mmp10
|
UTSW |
9 |
7,508,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Mmp10
|
UTSW |
9 |
7,508,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8728:Mmp10
|
UTSW |
9 |
7,502,480 (GRCm39) |
missense |
probably benign |
|
|
R8788:Mmp10
|
UTSW |
9 |
7,502,687 (GRCm39) |
intron |
probably benign |
|
|
R9023:Mmp10
|
UTSW |
9 |
7,504,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9386:Mmp10
|
UTSW |
9 |
7,503,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9388:Mmp10
|
UTSW |
9 |
7,504,170 (GRCm39) |
nonsense |
probably null |
|
|
R9414:Mmp10
|
UTSW |
9 |
7,502,489 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1176:Mmp10
|
UTSW |
9 |
7,508,206 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCACACTGTGTCTGATGGGACT -3'
(R):5'- ACCTTAGACGAATTTTGCACCAGTTACA -3'
Sequencing Primer
(F):5'- ACTGTGTCTGATGGGACTTATCAC -3'
(R):5'- agggaagtgggggggag -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation