Mutagenetix > Incidental Mutation

Incidental Mutation 'R7904:Mmp20'

610167

Institutional Source

Beutler Lab

Gene Symbol

Mmp20

Ensembl Gene

ENSMUSG00000018620

Gene Name

matrix metallopeptidase 20 (enamelysin)

Synonyms

MMRRC Submission

045956-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7904 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7628232-7674969 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7644076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 255 (F255I)

Ref Sequence

ENSEMBL: ENSMUSP00000034487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034487]

AlphaFold

P57748

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034487
AA Change: F255I

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034487
Gene: ENSMUSG00000018620
AA Change: F255I

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

Meta Mutation Damage Score

0.6028

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	G	A	7: 139,567,591 (GRCm39)	T384I	probably benign	Het
Astn1	T	C	1: 158,424,886 (GRCm39)	F691L	probably benign	Het
Azgp1	A	G	5: 137,985,869 (GRCm39)	E164G	probably damaging	Het
Bdp1	A	G	13: 100,177,944 (GRCm39)	V1975A	probably benign	Het
Cactin	T	C	10: 81,161,699 (GRCm39)	Y744H	possibly damaging	Het
Clstn1	T	A	4: 149,698,594 (GRCm39)	I60N	probably benign	Het
Col16a1	T	A	4: 129,948,001 (GRCm39)	C240*	probably null	Het
Col6a5	T	C	9: 105,805,720 (GRCm39)	D1062G	unknown	Het
Csmd2	T	C	4: 128,313,346 (GRCm39)	L1341P		Het
Cyp51	A	T	5: 4,150,173 (GRCm39)	F183L	probably damaging	Het
Dbnl	T	A	11: 5,741,779 (GRCm39)		probably null	Het
Ddx60	G	A	8: 62,430,924 (GRCm39)	V820I	possibly damaging	Het
Dnaaf9	A	T	2: 130,633,923 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,867,003 (GRCm39)	D4046V	possibly damaging	Het
Dnah6	G	A	6: 73,112,450 (GRCm39)		probably null	Het
Dnttip1	A	G	2: 164,589,472 (GRCm39)	Y89C	probably benign	Het
Efr3a	T	A	15: 65,696,527 (GRCm39)	V144E	probably damaging	Het
Epha8	T	C	4: 136,659,050 (GRCm39)	Q868R	possibly damaging	Het
Ercc5	G	T	1: 44,214,998 (GRCm39)		probably null	Het
Fam118a	A	G	15: 84,929,834 (GRCm39)	S21G	probably damaging	Het
Fam171b	T	C	2: 83,683,849 (GRCm39)	I122T	probably damaging	Het
Fat4	T	A	3: 38,941,690 (GRCm39)	S194R	probably damaging	Het
Fcho2	T	A	13: 98,932,871 (GRCm39)	T44S	possibly damaging	Het
Gm21698	C	A	5: 26,189,256 (GRCm39)	L232F	probably benign	Het
Gpr149	T	A	3: 62,502,356 (GRCm39)	D500V	probably benign	Het
Gpx8	T	A	13: 113,182,035 (GRCm39)	T133S	probably benign	Het
Hdlbp	A	T	1: 93,351,092 (GRCm39)	I542N	probably damaging	Het
Hid1	G	A	11: 115,246,187 (GRCm39)	S361F	probably damaging	Het
Igdcc4	C	A	9: 65,041,801 (GRCm39)	A1076E	probably benign	Het
Il4ra	A	G	7: 125,164,845 (GRCm39)	K7E	probably benign	Het
Inka2	T	C	3: 105,623,730 (GRCm39)	C35R	probably damaging	Het
Itga9	G	T	9: 118,706,294 (GRCm39)		probably null	Het
Kif5c	T	C	2: 49,591,095 (GRCm39)	S316P	probably damaging	Het
Kmt5c	A	T	7: 4,749,158 (GRCm39)	T264S	probably damaging	Het
Litafd	A	G	16: 8,501,681 (GRCm39)	H61R		Het
Lrrc18	A	G	14: 32,731,052 (GRCm39)	N197S	probably benign	Het
Mcoln1	C	A	8: 3,558,356 (GRCm39)	D203E	probably benign	Het
Mitf	T	C	6: 97,990,671 (GRCm39)	V358A	probably damaging	Het
Mki67	A	T	7: 135,294,816 (GRCm39)	L3161Q	possibly damaging	Het
Muc16	T	C	9: 18,566,946 (GRCm39)	T1858A	unknown	Het
Mug1	G	A	6: 121,828,424 (GRCm39)	V279I	probably benign	Het
Or6c68	T	C	10: 129,157,665 (GRCm39)	Y58H	probably damaging	Het
Otulin	G	T	15: 27,630,580 (GRCm39)	A39E	probably benign	Het
Pcdh17	A	T	14: 84,685,924 (GRCm39)	D797V	possibly damaging	Het
Pdlim5	G	A	3: 142,018,154 (GRCm39)	S147L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Ppp2r1a	T	G	17: 21,182,003 (GRCm39)		probably null	Het
Ranbp6	T	C	19: 29,789,813 (GRCm39)	I180V	probably benign	Het
Rbm27	G	T	18: 42,465,921 (GRCm39)	R869L	probably damaging	Het
Rtn4r	A	G	16: 17,969,349 (GRCm39)	D259G	probably benign	Het
Ryr3	T	C	2: 112,611,369 (GRCm39)	E2271G	probably damaging	Het
Sbk1	A	G	7: 125,891,208 (GRCm39)	Y214C	probably damaging	Het
Scg3	C	T	9: 75,551,149 (GRCm39)	E459K	probably damaging	Het
Scin	T	G	12: 40,126,999 (GRCm39)	E449D	probably damaging	Het
Sel1l3	T	C	5: 53,297,166 (GRCm39)	K760R	probably benign	Het
Sh3pxd2a	A	G	19: 47,308,753 (GRCm39)	L145S	possibly damaging	Het
Sh3yl1	A	G	12: 30,991,995 (GRCm39)	D188G	probably benign	Het
Slc38a1	A	T	15: 96,521,921 (GRCm39)	L13Q	possibly damaging	Het
Smyd4	T	C	11: 75,240,613 (GRCm39)	I36T	possibly damaging	Het
Spata31f1a	A	G	4: 42,850,765 (GRCm39)	S464P	possibly damaging	Het
Stab2	A	T	10: 86,790,056 (GRCm39)	L570*	probably null	Het
Tg	G	T	15: 66,577,128 (GRCm39)	A1484S	probably benign	Het
Tm7sf2	A	T	19: 6,118,942 (GRCm39)	N677K	probably damaging	Het
Tmem235	T	G	11: 117,751,717 (GRCm39)	L47R	probably damaging	Het
Tmem87a	A	G	2: 120,210,198 (GRCm39)	S252P	probably damaging	Het
Unc13b	A	G	4: 43,217,075 (GRCm39)	D458G	probably benign	Het
Wfdc1	A	G	8: 120,406,770 (GRCm39)		probably null	Het
Wnt16	A	G	6: 22,297,989 (GRCm39)	Y285C	probably damaging	Het
Wwc2	A	T	8: 48,309,270 (GRCm39)	N837K	unknown	Het
Xdh	A	G	17: 74,229,467 (GRCm39)	F329L	probably benign	Het
Yaf2	G	T	15: 93,183,466 (GRCm39)	H115N	probably benign	Het
Zbtb16	G	T	9: 48,744,272 (GRCm39)	N13K	probably damaging	Het
Zfhx3	A	T	8: 109,677,695 (GRCm39)	D2915V	probably damaging	Het
Zfp236	A	T	18: 82,627,507 (GRCm39)	V1564E	possibly damaging	Het
Zfp407	G	T	18: 84,579,381 (GRCm39)	H577Q	not run	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
R6510:Mmp20	UTSW	9	7,643,967 (GRCm39)	missense	probably damaging	1.00
R7580:Mmp20	UTSW	9	7,654,144 (GRCm39)	nonsense	probably null
R7635:Mmp20	UTSW	9	7,639,335 (GRCm39)	missense	probably benign	0.00
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'- AGTTTCCTGTAAGGCAAGAGAAC -3'
(R):5'- TGCTCTGGAAGGAAGATGTAGC -3'

Sequencing Primer
(F):5'- TTCCTGTAAGGCAAGAGAACAAAAAC -3'
(R):5'- GGAAAGATGCAACACTTTTAACTGG -3'

Posted On

2019-12-20