Mutagenetix > Incidental Mutation

Incidental Mutation 'R5489:Mmp20'

431986

Institutional Source

Beutler Lab

Gene Symbol

Mmp20

Ensembl Gene

ENSMUSG00000018620

Gene Name

matrix metallopeptidase 20 (enamelysin)

Synonyms

MMRRC Submission

043050-MU

Accession Numbers

Essential gene?

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

Stock #

R5489 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

7628232-7674969 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 7643958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034487 (fasta)

Gene Model

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

AlphaFold

P57748

Predicted Effect

probably null
Transcript: ENSMUST00000034487

SMART Domains

Protein: ENSMUSP00000034487
Gene: ENSMUSG00000018620

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

0.9493

Coding Region Coverage

1x: 98.4%
3x: 97.4%
10x: 95.4%
20x: 91.6%

Validation Efficiency

95% (57/60)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,268,778 (GRCm39)	M1K	probably null	Het
Abca14	T	A	7: 119,851,473 (GRCm39)	V817D	probably damaging	Het
Aqr	T	C	2: 113,963,554 (GRCm39)	N632S	probably damaging	Het
Bms1	T	C	6: 118,390,706 (GRCm39)	T208A	possibly damaging	Het
Brd8	A	T	18: 34,741,698 (GRCm39)		probably null	Het
Caln1	G	T	5: 130,443,673 (GRCm39)	R2L	possibly damaging	Het
Cdk17	A	G	10: 93,068,274 (GRCm39)	T344A	probably damaging	Het
Chd8	A	T	14: 52,450,505 (GRCm39)		probably benign	Het
Clec14a	A	G	12: 58,315,035 (GRCm39)	F196L	probably damaging	Het
Clec2f	T	C	6: 128,997,449 (GRCm39)		noncoding transcript	Het
Col4a1	A	T	8: 11,362,550 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,258,318 (GRCm39)	R579H	probably damaging	Het
Cyb561	A	G	11: 105,826,349 (GRCm39)	V202A	probably benign	Het
Cyp2c69	T	G	19: 39,839,603 (GRCm39)	Q340P	probably null	Het
D630003M21Rik	T	A	2: 158,058,941 (GRCm39)	T320S	probably benign	Het
D630045J12Rik	A	T	6: 38,173,782 (GRCm39)	S129T	possibly damaging	Het
Ddx54	A	G	5: 120,762,786 (GRCm39)	T636A	probably benign	Het
Dnah8	T	G	17: 31,009,930 (GRCm39)	F3774V	probably damaging	Het
Ern1	A	G	11: 106,298,355 (GRCm39)	S674P	probably damaging	Het
Fam13a	A	T	6: 59,001,303 (GRCm39)	L8Q	probably null	Het
Fam83b	T	C	9: 76,452,881 (GRCm39)	N62S	probably benign	Het
Foxred1	A	T	9: 35,121,266 (GRCm39)	V94E	probably damaging	Het
Frmd8	T	A	19: 5,902,680 (GRCm39)	Q457L	probably damaging	Het
Gvin3	T	A	7: 106,200,797 (GRCm39)		noncoding transcript	Het
Heatr6	A	G	11: 83,665,258 (GRCm39)	E741G	probably damaging	Het
Hnrnpab	A	G	11: 51,495,640 (GRCm39)	L133S	probably damaging	Het
Itga2	A	T	13: 114,979,971 (GRCm39)	W1077R	probably damaging	Het
Kat6b	A	G	14: 21,719,332 (GRCm39)	D1228G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2a	A	T	9: 44,752,335 (GRCm39)		probably benign	Het
Leap2	T	G	11: 53,313,240 (GRCm39)	*77C	probably null	Het
Mrps9	T	G	1: 42,937,593 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,305,169 (GRCm39)	S158P	probably benign	Het
Mus81	T	C	19: 5,537,917 (GRCm39)		probably benign	Het
Nrip3	T	C	7: 109,361,045 (GRCm39)	T210A	probably damaging	Het
Or52s1b	T	C	7: 102,822,658 (GRCm39)	Y62C	probably damaging	Het
Padi2	T	C	4: 140,671,799 (GRCm39)	F509S	probably damaging	Het
Pcdha12	A	G	18: 37,155,260 (GRCm39)	T660A	probably benign	Het
Pdzd2	G	A	15: 12,382,762 (GRCm39)	P1197L	probably benign	Het
Rec8	A	T	14: 55,860,283 (GRCm39)	Q291L	probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sart3	A	G	5: 113,909,441 (GRCm39)	W86R	probably damaging	Het
Slc17a4	A	G	13: 24,082,825 (GRCm39)		probably null	Het
Tdpoz1	T	A	3: 93,577,974 (GRCm39)	Y270F	possibly damaging	Het
Thap3	T	A	4: 152,070,109 (GRCm39)		probably benign	Het
Tmem45a	T	A	16: 56,646,074 (GRCm39)		probably null	Het
Trim43a	A	T	9: 88,464,229 (GRCm39)	I47F	probably damaging	Het
Vps13b	A	T	15: 35,770,688 (GRCm39)	I2044L	probably benign	Het
Zfp735	G	A	11: 73,601,419 (GRCm39)	W121*	probably null	Het
Zmym2	A	G	14: 57,193,712 (GRCm39)	K1176E	possibly damaging	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
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
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'- GGAGGGTGAATGCCTGTCAT -3'

Sequencing Primer
(F):5'- TCCATACCCCAAAAAGCATGAAGAG -3'
(R):5'- AATGCCTGTCATTTTCATGGTTAGAG -3'

Posted On

2016-10-05