Mutagenetix > Incidental Mutations

Incidental Mutation 'R0659:Mmp21'

61787

Institutional Source

Beutler Lab

Gene Symbol

Mmp21

Ensembl Gene

ENSMUSG00000030981

Gene Name

matrix metallopeptidase 21

Synonyms

MMRRC Submission

038844-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R0659 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

133674270-133680061 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 133677667 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033278] [ENSMUST00000051169] [ENSMUST00000122136]

Predicted Effect

probably benign
Transcript: ENSMUST00000033278

SMART Domains

Protein: ENSMUSP00000033278
Gene: ENSMUSG00000030981

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	46	107	5.6e-13	PFAM
low complexity region	117	133	N/A	INTRINSIC
ZnMc	166	327	2.67e-32	SMART
HX	332	390	1.97e-1	SMART
HX	393	448	5.36e-6	SMART
HX	450	497	9.33e-6	SMART
HX	505	548	1.11e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000051169

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
low complexity region	219	237	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC
low complexity region	467	477	N/A	INTRINSIC
low complexity region	529	549	N/A	INTRINSIC
low complexity region	1171	1184	N/A	INTRINSIC
low complexity region	1229	1237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122136

SMART Domains

Protein: ENSMUSP00000113853
Gene: ENSMUSG00000030981

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	46	107	1.9e-13	PFAM
low complexity region	117	133	N/A	INTRINSIC
ZnMc	166	327	2.67e-32	SMART
Pfam:Hemopexin	351	390	4.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131894

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.6%

Validation Efficiency

99% (72/73)

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. Mice harboring certain mutations in this gene exhibit congenital heart defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit heterotaxia and congenital cardiovascular defects including d-loop transposition of the great arteries, tricupid valve atresia, and ventricular septal defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,007,493		probably benign	Het
Ahnak	A	G	19: 9,015,002	H4550R	possibly damaging	Het
Anxa6	A	G	11: 54,983,347	V591A	probably damaging	Het
Apol7c	A	G	15: 77,526,273	S158P	probably damaging	Het
Asxl1	T	A	2: 153,400,724	S1065T	possibly damaging	Het
Cacna2d4	A	G	6: 119,345,106		probably benign	Het
Cd109	T	C	9: 78,680,170		probably benign	Het
Cep78	C	T	19: 15,956,190	V675M	probably damaging	Het
Ces4a	T	C	8: 105,144,922		probably benign	Het
Chpf	A	G	1: 75,477,723	V137A	probably damaging	Het
Comp	T	C	8: 70,379,101	S457P	possibly damaging	Het
Cth	A	G	3: 157,920,115		probably benign	Het
Cyp2a12	T	C	7: 27,034,138	L314P	probably damaging	Het
Ets1	C	T	9: 32,738,293	R309C	probably damaging	Het
Fam208b	T	C	13: 3,574,448	D1834G	probably damaging	Het
Foxp2	T	C	6: 15,254,279		probably benign	Het
Gm9875	T	G	2: 13,558,184	F108V	unknown	Het
Golga5	G	T	12: 102,476,208	V269F	possibly damaging	Het
Greb1	T	C	12: 16,680,212	Y1738C	probably damaging	Het
Grin2a	G	T	16: 9,992,472	P21Q	probably damaging	Het
Hdac5	A	T	11: 102,196,024	V70E	probably damaging	Het
Hdac9	T	C	12: 34,437,222	Q60R	probably damaging	Het
Hsd17b3	T	C	13: 64,073,936	T92A	possibly damaging	Het
Itpk1	C	T	12: 102,606,078		probably benign	Het
Lin28a	T	C	4: 134,008,099		probably benign	Het
Mapk6	T	C	9: 75,397,962	S58G	probably damaging	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Mroh2a	G	A	1: 88,250,342	D1053N	probably damaging	Het
Msh3	T	C	13: 92,345,096	N303D	possibly damaging	Het
Mto1	T	A	9: 78,457,508	I343N	probably damaging	Het
Mto1	C	T	9: 78,470,790	T638M	probably damaging	Het
Myo18b	T	C	5: 112,760,327	K2027E	possibly damaging	Het
Myo7a	T	C	7: 98,054,338		probably benign	Het
Nlrp9a	T	C	7: 26,557,278	I107T	probably damaging	Het
Olfr181	C	A	16: 58,926,409	R54L	possibly damaging	Het
Olfr970	T	G	9: 39,819,816	M59R	possibly damaging	Het
Osbpl5	A	G	7: 143,705,030	S268P	probably damaging	Het
Pih1d1	T	A	7: 45,159,975	S289T	probably benign	Het
Pik3c2b	A	G	1: 133,071,200	D353G	probably damaging	Het
Ppef2	A	G	5: 92,230,509	L609P	probably damaging	Het
Prune2	A	T	19: 17,122,835	D1901V	probably damaging	Het
Rdh9	T	C	10: 127,776,575	Y31H	possibly damaging	Het
Slc5a9	T	A	4: 111,883,871	Y526F	possibly damaging	Het
Slitrk5	A	G	14: 111,680,689	K582E	probably benign	Het
Sult1c2	A	T	17: 53,831,778	M257K	probably damaging	Het
Tmem132d	A	G	5: 127,984,287	I417T	possibly damaging	Het
Tmem229b	T	C	12: 78,965,134	T8A	probably benign	Het
Tmem237	T	C	1: 59,114,094	I89M	possibly damaging	Het
Tnfrsf17	A	T	16: 11,319,819	D140V	probably damaging	Het
Tnrc6b	T	A	15: 80,923,446		probably benign	Het
Trio	A	G	15: 27,831,399	L194P	probably damaging	Het
Vmn2r74	T	C	7: 85,955,914		probably benign	Het
Vps13c	T	A	9: 67,920,935	M1457K	probably benign	Het
Zfhx2	A	G	14: 55,073,801	C479R	possibly damaging	Het
Zfp420	T	A	7: 29,875,539	C395S	probably damaging	Het
Zfp740	A	G	15: 102,212,659	T136A	possibly damaging	Het
Zfp82	C	T	7: 30,056,329	E443K	probably damaging	Het
Zranb2	A	G	3: 157,541,763	S193G	probably benign	Het

Other mutations in Mmp21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01868:Mmp21	APN	7	133675914	missense	probably damaging	1.00
IGL02822:Mmp21	APN	7	133676099	missense	possibly damaging	0.80
IGL03240:Mmp21	APN	7	133674571	missense	probably damaging	0.97
IGL03261:Mmp21	APN	7	133674674	missense	probably benign	0.01
R1037:Mmp21	UTSW	7	133674453	missense	probably benign	0.16
R1463:Mmp21	UTSW	7	133675859	splice site	probably null
R1523:Mmp21	UTSW	7	133679045	missense	probably benign
R1710:Mmp21	UTSW	7	133677285	missense	probably damaging	1.00
R1804:Mmp21	UTSW	7	133678882	missense	probably benign	0.01
R1848:Mmp21	UTSW	7	133677153	missense	probably benign	0.05
R2993:Mmp21	UTSW	7	133678986	missense	probably damaging	1.00
R3431:Mmp21	UTSW	7	133678750	missense	probably benign	0.00
R4790:Mmp21	UTSW	7	133675030	missense	probably damaging	1.00
R4870:Mmp21	UTSW	7	133678677	missense	probably damaging	1.00
R5134:Mmp21	UTSW	7	133679013	missense	probably benign	0.00
R5347:Mmp21	UTSW	7	133675922	missense	probably benign
R5682:Mmp21	UTSW	7	133674629	missense	probably benign	0.00
R5905:Mmp21	UTSW	7	133678714	missense	probably benign	0.17
R6028:Mmp21	UTSW	7	133678714	missense	probably benign	0.17
R6936:Mmp21	UTSW	7	133678975	missense	probably benign	0.01
R7657:Mmp21	UTSW	7	133678833	missense	probably benign	0.00
R7702:Mmp21	UTSW	7	133679062	missense	probably damaging	1.00
R7786:Mmp21	UTSW	7	133675035	missense	probably benign
Z1177:Mmp21	UTSW	7	133674933	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTTGAGAAGGCTGATGCCTGTG -3'
(R):5'- TTCCTTCACCAGCACTGGCAAC -3'

Sequencing Primer
(F):5'- ATGCCTGTGTCACTGGAGAG -3'
(R):5'- gagagagagagagagagagagag -3'

Posted On

2013-07-30