Incidental Mutation 'R6510:Mmp20'
| ID |
519886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp20
|
| Ensembl Gene |
ENSMUSG00000018620 |
| Gene Name |
matrix metallopeptidase 20 (enamelysin) |
| Synonyms |
|
| MMRRC Submission |
044423-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6510 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7628232-7674969 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 7643967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 218
(N218K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034487]
|
| AlphaFold |
P57748 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034487
AA Change: N218K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034487
Gene: ENSMUSG00000018620
AA Change: N218K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
34 |
94 |
2.3e-9 |
PFAM |
|
ZnMc
|
112 |
271 |
6.89e-67 |
SMART |
|
HX
|
301 |
344 |
7.07e-6 |
SMART |
|
HX
|
346 |
388 |
1.27e-7 |
SMART |
|
HX
|
393 |
440 |
3.76e-10 |
SMART |
|
HX
|
442 |
482 |
6.8e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the matrix metalloproteinase family of zinc-dependent endopeptidases capable of degrading extracellular matrix proteins. This gene is expressed specifically in the ameloblasts and odontoblasts, and the encoded protein is an inactive zymogen that requires proteolytic removal of a N-terminal propeptide to become enzymatically active. Mice lacking the encoded protein display an amelogenesis imperfecta phenotype. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knockout allele exhibit a severe and profound tooth phenotype that includes altered amelogenin processing, enamel that delaminates from dentin, a hypoplastic enamel, a disorganized prism pattern, and a progressively deteriorating enamel morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,770,645 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,707,609 (GRCm39) |
T1266A |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,527,743 (GRCm39) |
N1758S |
probably damaging |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,482 (GRCm39) |
E182D |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,662,217 (GRCm39) |
D77G |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,036,861 (GRCm39) |
D108G |
probably damaging |
Het |
| Foxp4 |
A |
G |
17: 48,186,335 (GRCm39) |
F452S |
unknown |
Het |
| Gas2 |
T |
C |
7: 51,593,460 (GRCm39) |
L180P |
probably damaging |
Het |
| Gm28168 |
T |
C |
1: 117,875,685 (GRCm39) |
Y105H |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,845,131 (GRCm39) |
D217V |
probably damaging |
Het |
| Igsf9 |
C |
G |
1: 172,317,864 (GRCm39) |
Q74E |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 115,009,816 (GRCm39) |
F380I |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,962,629 (GRCm39) |
V128A |
possibly damaging |
Het |
| Msh3 |
T |
A |
13: 92,489,772 (GRCm39) |
K73* |
probably null |
Het |
| Or4c103 |
C |
T |
2: 88,513,302 (GRCm39) |
R258H |
probably benign |
Het |
| Pate2 |
T |
A |
9: 35,581,018 (GRCm39) |
C11S |
probably null |
Het |
| Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,159,875 (GRCm39) |
D297G |
probably damaging |
Het |
| Sgca |
A |
T |
11: 94,854,058 (GRCm39) |
L137Q |
probably benign |
Het |
| Treml4 |
A |
G |
17: 48,581,472 (GRCm39) |
D249G |
probably benign |
Het |
| Vmn1r226 |
T |
C |
17: 20,908,115 (GRCm39) |
C116R |
probably benign |
Het |
|
| Other mutations in Mmp20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01490:Mmp20
|
APN |
9 |
7,628,330 (GRCm39) |
missense |
probably benign |
|
|
IGL01634:Mmp20
|
APN |
9 |
7,635,149 (GRCm39) |
nonsense |
probably null |
|
|
IGL01682:Mmp20
|
APN |
9 |
7,671,376 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01997:Mmp20
|
APN |
9 |
7,639,261 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02211:Mmp20
|
APN |
9 |
7,655,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02496:Mmp20
|
APN |
9 |
7,654,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02902:Mmp20
|
APN |
9 |
7,654,171 (GRCm39) |
splice site |
probably null |
|
|
IGL03340:Mmp20
|
APN |
9 |
7,643,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
titanium
|
UTSW |
9 |
7,654,144 (GRCm39) |
nonsense |
probably null |
|
|
PIT4519001:Mmp20
|
UTSW |
9 |
7,628,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0082:Mmp20
|
UTSW |
9 |
7,642,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0480:Mmp20
|
UTSW |
9 |
7,645,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1449:Mmp20
|
UTSW |
9 |
7,642,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Mmp20
|
UTSW |
9 |
7,645,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4343:Mmp20
|
UTSW |
9 |
7,628,346 (GRCm39) |
frame shift |
probably null |
|
|
R4825:Mmp20
|
UTSW |
9 |
7,654,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:Mmp20
|
UTSW |
9 |
7,645,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4836:Mmp20
|
UTSW |
9 |
7,644,027 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5488:Mmp20
|
UTSW |
9 |
7,643,958 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5489:Mmp20
|
UTSW |
9 |
7,643,958 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5759:Mmp20
|
UTSW |
9 |
7,628,378 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5880:Mmp20
|
UTSW |
9 |
7,655,002 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6029:Mmp20
|
UTSW |
9 |
7,639,302 (GRCm39) |
missense |
probably benign |
|
|
R7580:Mmp20
|
UTSW |
9 |
7,654,144 (GRCm39) |
nonsense |
probably null |
|
|
R7635:Mmp20
|
UTSW |
9 |
7,639,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7904:Mmp20
|
UTSW |
9 |
7,644,076 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8902:Mmp20
|
UTSW |
9 |
7,639,288 (GRCm39) |
missense |
probably benign |
|
|
R9214:Mmp20
|
UTSW |
9 |
7,628,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Mmp20
|
UTSW |
9 |
7,644,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTTGTCTTACGTTTCCC -3'
(R):5'- TGGAGGGTGAATGCCTGTCA -3'
Sequencing Primer
(F):5'- TCCATACCCCAAAAAGCATGAAGAG -3'
(R):5'- AATGCCTGTCATTTTCATGGTTAGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation