Incidental Mutation 'R7676:Mmp10'
| ID |
592457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp10
|
| Ensembl Gene |
ENSMUSG00000047562 |
| Gene Name |
matrix metallopeptidase 10 |
| Synonyms |
stromelysin 2 |
| MMRRC Submission |
045647-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R7676 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7502353-7510241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 7503550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 140
(V140D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034488]
|
| AlphaFold |
O55123 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034488
AA Change: V140D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034488
Gene: ENSMUSG00000047562
AA Change: V140D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,185,813 (GRCm39) |
D116G |
possibly damaging |
Het |
| Adam6a |
G |
A |
12: 113,508,196 (GRCm39) |
G190S |
probably benign |
Het |
| Adnp |
G |
A |
2: 168,025,367 (GRCm39) |
R643* |
probably null |
Het |
| Akap6 |
A |
G |
12: 52,933,633 (GRCm39) |
D375G |
possibly damaging |
Het |
| Aldh1l2 |
G |
T |
10: 83,343,975 (GRCm39) |
A480E |
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,148,821 (GRCm39) |
Q779L |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,273,324 (GRCm39) |
L2484* |
probably null |
Het |
| Dnajc21 |
T |
C |
15: 10,462,430 (GRCm39) |
Y65C |
possibly damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,333,294 (GRCm39) |
N255K |
probably benign |
Het |
| Efhc1 |
G |
T |
1: 21,037,593 (GRCm39) |
G257W |
probably damaging |
Het |
| Fars2 |
C |
A |
13: 36,389,026 (GRCm39) |
L172I |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,945,846 (GRCm39) |
Y1580H |
probably damaging |
Het |
| Fli1 |
T |
A |
9: 32,339,326 (GRCm39) |
N253Y |
probably benign |
Het |
| Foxd3 |
G |
T |
4: 99,545,151 (GRCm39) |
C97F |
probably damaging |
Het |
| Gem |
C |
A |
4: 11,711,170 (GRCm39) |
D120E |
possibly damaging |
Het |
| Ighv10-3 |
A |
G |
12: 114,487,299 (GRCm39) |
C41R |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,449,549 (GRCm39) |
D897G |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,217,553 (GRCm39) |
S16G |
probably benign |
Het |
| Keg1 |
T |
G |
19: 12,693,409 (GRCm39) |
V154G |
probably benign |
Het |
| Lrrc45 |
G |
A |
11: 120,611,148 (GRCm39) |
R602H |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,598,292 (GRCm39) |
D591G |
possibly damaging |
Het |
| Nat8f2 |
A |
T |
6: 85,845,194 (GRCm39) |
M56K |
probably benign |
Het |
| Nckipsd |
T |
C |
9: 108,692,153 (GRCm39) |
F525L |
probably damaging |
Het |
| Or10ak7 |
A |
G |
4: 118,791,347 (GRCm39) |
S233P |
probably damaging |
Het |
| Or10j7 |
T |
A |
1: 173,011,120 (GRCm39) |
K294* |
probably null |
Het |
| Or6c6c |
G |
T |
10: 129,541,155 (GRCm39) |
S136I |
possibly damaging |
Het |
| P2ry12 |
T |
A |
3: 59,125,178 (GRCm39) |
M166L |
possibly damaging |
Het |
| Palm3 |
T |
C |
8: 84,756,074 (GRCm39) |
S529P |
possibly damaging |
Het |
| Pdilt |
A |
T |
7: 119,094,220 (GRCm39) |
Y344N |
probably damaging |
Het |
| Pip4k2b |
A |
T |
11: 97,611,188 (GRCm39) |
N309K |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,912,708 (GRCm39) |
V166I |
|
Het |
| Plxdc2 |
C |
T |
2: 16,716,894 (GRCm39) |
S377L |
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,295,344 (GRCm39) |
V224E |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 138,685,220 (GRCm39) |
D428V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,644,951 (GRCm39) |
D12968G |
probably damaging |
Het |
| Tulp2 |
G |
T |
7: 45,170,451 (GRCm39) |
V457F |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,839,908 (GRCm39) |
S1879T |
probably damaging |
Het |
| Vmn1r51 |
T |
C |
6: 90,106,437 (GRCm39) |
Y118H |
probably benign |
Het |
| Zfat |
A |
C |
15: 68,096,693 (GRCm39) |
V40G |
possibly 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 |
|
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 |
|
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'- TGGTGGCTTCAGTACCTTCC -3'
(R):5'- CAGGAAGTCTGAGTGATACCTTTG -3'
Sequencing Primer
(F):5'- TTCCCAGGTTCGCCAAAATGG -3'
(R):5'- TGTGTTGTTTACAGATCTTCCAATG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation