Incidental Mutation 'R5814:Mmp10'
| ID |
447689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp10
|
| Ensembl Gene |
ENSMUSG00000047562 |
| Gene Name |
matrix metallopeptidase 10 |
| Synonyms |
stromelysin 2 |
| MMRRC Submission |
043396-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R5814 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7502353-7510241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 7503621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 164
(A164T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034488]
|
| AlphaFold |
O55123 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034488
AA Change: A164T
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034488
Gene: ENSMUSG00000047562
AA Change: A164T
| 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 |
0.2776 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
91% (52/57) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,740,811 (GRCm39) |
D135G |
probably benign |
Het |
| Arrdc3 |
G |
T |
13: 81,038,698 (GRCm39) |
R220L |
possibly damaging |
Het |
| Bace1 |
A |
G |
9: 45,771,562 (GRCm39) |
D458G |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,034,880 (GRCm39) |
Y1360C |
probably benign |
Het |
| Ccnb1-ps |
T |
C |
7: 41,756,522 (GRCm39) |
|
noncoding transcript |
Het |
| Cd209b |
T |
C |
8: 3,973,348 (GRCm39) |
E112G |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,117,478 (GRCm39) |
L1176Q |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,387,607 (GRCm39) |
Y214C |
probably damaging |
Het |
| Clvs2 |
G |
T |
10: 33,404,503 (GRCm39) |
Q238K |
probably benign |
Het |
| Creb3l3 |
C |
T |
10: 80,921,496 (GRCm39) |
V350M |
probably benign |
Het |
| Crot |
A |
C |
5: 9,023,996 (GRCm39) |
D373E |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,289,694 (GRCm39) |
I187N |
probably damaging |
Het |
| Degs1l |
G |
A |
1: 180,882,663 (GRCm39) |
V142I |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,369,102 (GRCm39) |
A4291D |
possibly damaging |
Het |
| Dnmt3b |
A |
T |
2: 153,514,417 (GRCm39) |
E403D |
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,075,757 (GRCm39) |
I43K |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,626,940 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
C |
A |
5: 110,843,444 (GRCm39) |
|
probably null |
Het |
| Erp27 |
A |
T |
6: 136,888,564 (GRCm39) |
V138E |
possibly damaging |
Het |
| Gbp4 |
G |
A |
5: 105,267,785 (GRCm39) |
A487V |
probably benign |
Het |
| Gm10142 |
C |
A |
10: 77,551,957 (GRCm39) |
T106N |
probably damaging |
Het |
| Gxylt2 |
C |
A |
6: 100,710,196 (GRCm39) |
H112Q |
probably damaging |
Het |
| Hexim2 |
G |
A |
11: 103,029,209 (GRCm39) |
R87Q |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,807,305 (GRCm39) |
N399S |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,199,516 (GRCm39) |
I302F |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kdm1b |
A |
G |
13: 47,216,622 (GRCm39) |
|
probably null |
Het |
| Krtap19-9a |
T |
C |
16: 88,721,002 (GRCm39) |
|
noncoding transcript |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Myrip |
G |
A |
9: 120,253,734 (GRCm39) |
G269D |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Paxbp1 |
G |
T |
16: 90,827,384 (GRCm39) |
R420S |
probably damaging |
Het |
| Pcbp2 |
T |
A |
15: 102,391,597 (GRCm39) |
S38R |
probably damaging |
Het |
| Pcf11 |
A |
G |
7: 92,306,922 (GRCm39) |
V1082A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,269,629 (GRCm39) |
E3305G |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,074,543 (GRCm39) |
W250R |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 16,993,725 (GRCm39) |
|
probably null |
Het |
| Rpsa |
A |
G |
9: 119,957,551 (GRCm39) |
|
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,275,680 (GRCm39) |
I262V |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,396,826 (GRCm39) |
L1663* |
probably null |
Het |
| Sh3d19 |
G |
A |
3: 86,033,911 (GRCm39) |
V755I |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,973,654 (GRCm39) |
V14E |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
T |
6: 48,428,818 (GRCm39) |
Q411L |
probably damaging |
Het |
| Sycp1 |
A |
C |
3: 102,803,213 (GRCm39) |
S532R |
probably benign |
Het |
| Taf6l |
C |
A |
19: 8,752,210 (GRCm39) |
A493S |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,570,603 (GRCm39) |
D574G |
probably benign |
Het |
| Ttll10 |
T |
A |
4: 156,132,084 (GRCm39) |
K117N |
possibly damaging |
Het |
| Uqcc5 |
A |
G |
14: 30,846,477 (GRCm39) |
|
probably null |
Het |
| Utp4 |
T |
A |
8: 107,638,907 (GRCm39) |
I405K |
probably damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,474,475 (GRCm39) |
Y851F |
probably benign |
Het |
| Vps33a |
T |
C |
5: 123,703,119 (GRCm39) |
D168G |
probably damaging |
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 |
|
R0595:Mmp10
|
UTSW |
9 |
7,508,199 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- TAAATGTGTCAGGAGCATCACAG -3'
(R):5'- GCTGCTTTTGCCATAGGAGG -3'
Sequencing Primer
(F):5'- GCATCACAGAAGCAAAGATTACCTTC -3'
(R):5'- CTGCTTTTGCCATAGGAGGTAACAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation