Mutagenetix > Incidental Mutation

Incidental Mutation 'R4836:Mmp20'

373247

Institutional Source

Beutler Lab

Gene Symbol

Mmp20

Ensembl Gene

ENSMUSG00000018620

Gene Name

matrix metallopeptidase 20 (enamelysin)

Synonyms

MMRRC Submission

042451-MU

Accession Numbers

Essential gene?

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

Stock #

R4836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7628232-7674969 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7644027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 238 (D238E)

Ref Sequence

ENSEMBL: ENSMUSP00000034487 (fasta)

Gene Model

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

AlphaFold

P57748

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034487
AA Change: D238E

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034487
Gene: ENSMUSG00000018620
AA Change: D238E

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

98% (87/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	A	T	11: 116,066,152 (GRCm39)	S453T	probably benign	Het
Ahnak2	A	T	12: 112,740,550 (GRCm39)	V368D	probably damaging	Het
Ankrd53	A	T	6: 83,745,134 (GRCm39)	Y448F	probably damaging	Het
Arhgef15	A	T	11: 68,840,751 (GRCm39)		probably benign	Het
Atg2b	T	C	12: 105,613,073 (GRCm39)	N1166S	probably benign	Het
Atl3	C	T	19: 7,486,910 (GRCm39)	R77*	probably null	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Ccnt1	C	A	15: 98,465,444 (GRCm39)	R25L	probably damaging	Het
Cct4	A	G	11: 22,952,898 (GRCm39)	T525A	probably benign	Het
Cep350	T	C	1: 155,804,579 (GRCm39)	I835V	probably damaging	Het
Cimap2	T	A	4: 106,467,724 (GRCm39)		probably null	Het
Clcn1	G	T	6: 42,286,898 (GRCm39)	V652L	probably damaging	Het
Cntln	T	A	4: 84,967,957 (GRCm39)	Y725*	probably null	Het
Cog5	T	C	12: 31,969,732 (GRCm39)	F21L	probably benign	Het
D6Ertd527e	GGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	6: 87,088,406 (GRCm39)		probably benign	Het
Dnm2	A	T	9: 21,402,626 (GRCm39)		probably benign	Het
Dnmt1	C	T	9: 20,819,854 (GRCm39)	V1430I	probably damaging	Het
Dpep1	A	G	8: 123,927,106 (GRCm39)	D285G	probably damaging	Het
Eef2kmt	C	T	16: 5,066,867 (GRCm39)	V129M	probably damaging	Het
Epha3	A	T	16: 63,403,920 (GRCm39)	M726K	probably damaging	Het
Fat3	A	G	9: 16,289,019 (GRCm39)	L168P	probably damaging	Het
Frem3	T	A	8: 81,390,026 (GRCm39)	F1759Y	probably damaging	Het
Fubp3	T	A	2: 31,498,153 (GRCm39)	S56R	possibly damaging	Het
Gm1965	T	C	6: 89,122,392 (GRCm39)		noncoding transcript	Het
Gm5592	C	T	7: 40,864,958 (GRCm39)		probably benign	Het
H1f9	T	A	11: 94,858,843 (GRCm39)	L46*	probably null	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Isl1	A	G	13: 116,439,619 (GRCm39)	M243T	probably benign	Het
Itpr1	A	T	6: 108,366,498 (GRCm39)	I142F	probably damaging	Het
Jak1	T	C	4: 101,012,263 (GRCm39)	T1069A	probably damaging	Het
Jmjd1c	T	C	10: 67,069,225 (GRCm39)	V1848A	probably benign	Het
Kdm5a	T	C	6: 120,389,363 (GRCm39)	V930A	probably damaging	Het
Kdm5b	C	A	1: 134,521,053 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,241,713 (GRCm39)	F171L	possibly damaging	Het
Map1b	A	G	13: 99,567,562 (GRCm39)	S1720P	unknown	Het
Mcpt1	A	T	14: 56,257,017 (GRCm39)	Q185L	probably damaging	Het
Mov10l1	A	T	15: 88,904,472 (GRCm39)	I784F	possibly damaging	Het
Mroh2b	C	T	15: 4,933,752 (GRCm39)	P101S	probably damaging	Het
Myh3	G	T	11: 66,987,765 (GRCm39)	A1413S	probably benign	Het
Naa80	A	T	9: 107,460,738 (GRCm39)	Y211F	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or12j4	A	G	7: 140,046,989 (GRCm39)	R292G	probably damaging	Het
Or2t48	A	C	11: 58,420,308 (GRCm39)	M168R	probably damaging	Het
Or4a66	A	G	2: 88,531,544 (GRCm39)	I43T	probably damaging	Het
Or5g9	A	G	2: 85,551,793 (GRCm39)	I15V	probably benign	Het
Or8k22	A	T	2: 86,163,571 (GRCm39)	M43K	probably benign	Het
Or8k23	G	A	2: 86,186,094 (GRCm39)	L211F	probably benign	Het
Palld	T	A	8: 62,140,415 (GRCm39)	T531S	probably benign	Het
Parp4	A	G	14: 56,823,195 (GRCm39)	E105G	probably benign	Het
Phf11a	A	T	14: 59,525,028 (GRCm39)	S59T	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Rad50	A	T	11: 53,541,480 (GRCm39)	I1252N	probably damaging	Het
Ramp3	A	G	11: 6,624,761 (GRCm39)		probably null	Het
Rrbp1	G	A	2: 143,830,337 (GRCm39)	T610I	possibly damaging	Het
Scart2	T	C	7: 139,879,021 (GRCm39)	I1051T	probably benign	Het
Semp2l2a	C	T	8: 13,888,007 (GRCm39)	S28N	probably benign	Het
Slc4a10	A	G	2: 62,098,531 (GRCm39)	Y555C	probably damaging	Het
Slc5a2	A	G	7: 127,866,677 (GRCm39)		probably null	Het
Smoc1	T	A	12: 81,226,322 (GRCm39)	D371E	probably damaging	Het
Stmn1	T	A	4: 134,197,495 (GRCm39)		probably benign	Het
Sulf1	C	T	1: 12,912,910 (GRCm39)	L715F	probably benign	Het
Surf1	T	C	2: 26,804,255 (GRCm39)	T180A	possibly damaging	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tchh	A	T	3: 93,352,455 (GRCm39)	R632W	unknown	Het
Tchh	A	T	3: 93,354,895 (GRCm39)	D1445V	unknown	Het
Tctn1	A	T	5: 122,383,568 (GRCm39)	M505K	probably benign	Het
Tdrkh	T	A	3: 94,332,897 (GRCm39)	I150N	probably damaging	Het
Tespa1	C	T	10: 130,198,028 (GRCm39)	T350I	probably benign	Het
Thbs1	A	G	2: 117,945,499 (GRCm39)	Y326C	possibly damaging	Het
Tmem208	C	T	8: 106,055,296 (GRCm39)	S119F	probably damaging	Het
Tmprss6	G	C	15: 78,329,588 (GRCm39)	A91G	probably damaging	Het
Trp53bp2	C	T	1: 182,259,147 (GRCm39)	R67W	probably damaging	Het
Ttn	A	G	2: 76,541,541 (GRCm39)	I25488T	possibly damaging	Het
Txnl4a	A	G	18: 80,265,468 (GRCm39)	E111G	probably damaging	Het
Unc13b	T	G	4: 43,237,137 (GRCm39)	I3402M	probably damaging	Het
Vmn1r188	A	C	13: 22,272,291 (GRCm39)	I82L	probably benign	Het
Zfp65	A	G	13: 67,856,994 (GRCm39)	V95A	probably benign	Het
Zfp985	T	A	4: 147,668,612 (GRCm39)	S493R	probably 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
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
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'- GCCAGGTGCTAGAACAACC -3'
(R):5'- AGCTGTAGTGGTGACCCTAGTC -3'

Sequencing Primer
(F):5'- CCACCAACCTTTAAAACTTGTAATG -3'
(R):5'- GCAAGTAACCCTTATTTAAGTGCAC -3'

Posted On

2016-03-01