Incidental Mutation 'R6542:Mmp10'
ID |
520850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmp10
|
Ensembl Gene |
ENSMUSG00000047562 |
Gene Name |
matrix metallopeptidase 10 |
Synonyms |
stromelysin 2 |
MMRRC Submission |
044668-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.192)
|
Stock # |
R6542 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
7502353-7510241 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 7506513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 330
(A330T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034488]
|
AlphaFold |
O55123 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034488
AA Change: A330T
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000034488 Gene: ENSMUSG00000047562 AA Change: A330T
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 |
0.0832 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
98% (47/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,030,902 (GRCm39) |
L566Q |
probably damaging |
Het |
Apbb1ip |
C |
T |
2: 22,764,972 (GRCm39) |
T551I |
probably benign |
Het |
Aqp5 |
A |
G |
15: 99,492,143 (GRCm39) |
E247G |
probably damaging |
Het |
Bdkrb1 |
T |
C |
12: 105,571,352 (GRCm39) |
F306S |
probably damaging |
Het |
Clca3a1 |
C |
T |
3: 144,465,021 (GRCm39) |
V71I |
probably benign |
Het |
Cog4 |
A |
G |
8: 111,577,994 (GRCm39) |
D36G |
probably damaging |
Het |
Ctbp1 |
A |
G |
5: 33,426,915 (GRCm39) |
|
probably benign |
Het |
Dync1li2 |
C |
T |
8: 105,169,396 (GRCm39) |
G13D |
probably benign |
Het |
F5 |
T |
C |
1: 164,022,037 (GRCm39) |
V1504A |
probably benign |
Het |
Fancm |
T |
C |
12: 65,144,203 (GRCm39) |
L555P |
probably damaging |
Het |
Fgfr2 |
A |
T |
7: 129,802,853 (GRCm39) |
S152T |
probably benign |
Het |
Fign |
A |
T |
2: 63,810,639 (GRCm39) |
H210Q |
possibly damaging |
Het |
Hbs1l |
A |
G |
10: 21,180,516 (GRCm39) |
N66S |
probably benign |
Het |
Ighv12-3 |
A |
T |
12: 114,330,435 (GRCm39) |
M20K |
probably benign |
Het |
Isoc2b |
T |
C |
7: 4,854,454 (GRCm39) |
K26E |
probably damaging |
Het |
Katnal1 |
C |
T |
5: 148,813,016 (GRCm39) |
A467T |
probably benign |
Het |
Loxl3 |
A |
G |
6: 83,025,147 (GRCm39) |
T292A |
probably benign |
Het |
Map3k9 |
A |
G |
12: 81,769,028 (GRCm39) |
S1007P |
possibly damaging |
Het |
Mcur1 |
A |
T |
13: 43,705,134 (GRCm39) |
V174D |
probably damaging |
Het |
Metrnl |
A |
C |
11: 121,593,704 (GRCm39) |
|
probably null |
Het |
Midn |
A |
G |
10: 79,992,418 (GRCm39) |
D490G |
probably damaging |
Het |
Mto1 |
T |
A |
9: 78,364,510 (GRCm39) |
C281S |
possibly damaging |
Het |
Nek10 |
A |
G |
14: 14,999,108 (GRCm38) |
I1036V |
probably benign |
Het |
Odad1 |
G |
T |
7: 45,597,814 (GRCm39) |
A575S |
probably benign |
Het |
Or13c7c |
A |
C |
4: 43,835,686 (GRCm39) |
L268R |
probably benign |
Het |
Or1ab2 |
T |
C |
8: 72,863,715 (GRCm39) |
F102L |
probably damaging |
Het |
Or2b7 |
T |
C |
13: 21,739,677 (GRCm39) |
T172A |
probably damaging |
Het |
Or8b48 |
C |
A |
9: 38,450,733 (GRCm39) |
L181I |
probably benign |
Het |
Parp4 |
A |
C |
14: 56,885,339 (GRCm39) |
I1473L |
unknown |
Het |
Pcdhb9 |
A |
G |
18: 37,534,642 (GRCm39) |
Y212C |
probably damaging |
Het |
Pilra |
G |
T |
5: 137,820,237 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
A |
G |
1: 20,655,927 (GRCm39) |
I202T |
probably benign |
Het |
Ppfia2 |
A |
T |
10: 106,671,586 (GRCm39) |
E432D |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,194,851 (GRCm39) |
D298G |
possibly damaging |
Het |
Prr22 |
T |
A |
17: 57,077,527 (GRCm39) |
|
probably null |
Het |
Septin2 |
T |
A |
1: 93,425,188 (GRCm39) |
|
probably null |
Het |
Setdb1 |
C |
A |
3: 95,247,618 (GRCm39) |
V426L |
probably damaging |
Het |
Slc8b1 |
C |
T |
5: 120,667,582 (GRCm39) |
A405V |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,068,237 (GRCm39) |
R279* |
probably null |
Het |
Ssh2 |
C |
G |
11: 77,340,976 (GRCm39) |
D709E |
possibly damaging |
Het |
Tmprss9 |
A |
G |
10: 80,724,389 (GRCm39) |
D373G |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,903,477 (GRCm39) |
L921S |
probably benign |
Het |
Ubqln3 |
T |
C |
7: 103,790,824 (GRCm39) |
N422S |
probably benign |
Het |
Vmn2r105 |
C |
T |
17: 20,448,803 (GRCm39) |
V125I |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,060,413 (GRCm39) |
Y390* |
probably null |
Het |
Zcwpw1 |
T |
C |
5: 137,810,282 (GRCm39) |
F353L |
probably damaging |
Het |
Zfp462 |
G |
A |
4: 55,023,433 (GRCm39) |
C987Y |
probably damaging |
Het |
Zkscan4 |
A |
G |
13: 21,668,508 (GRCm39) |
S320G |
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 |
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 |
|
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'- TGCCTGGAATCACATGTGG -3'
(R):5'- AATGCTCATTCACCAGTTCCAATC -3'
Sequencing Primer
(F):5'- CTGGAATCACATGTGGGACAATCC -3'
(R):5'- GCTCATTCACCAGTTCCAATCTGTTC -3'
|
Posted On |
2018-06-06 |