Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03366:Mmp3'

420103

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmp3

Ensembl Gene

ENSMUSG00000043613

Gene Name

matrix metallopeptidase 3

Synonyms

Stmy1, Str1, stromelysin 1, SLN-1, stromelysin-1, STR-1, progelatinase, SLN1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL03366

Quality Score

Status

Chromosome

Chromosomal Location

7445822-7455975 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7450149 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 294 (S294P)

Ref Sequence

ENSEMBL: ENSMUSP00000034497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034497]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034497
AA Change: S294P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034497
Gene: ENSMUSG00000043613
AA Change: S294P

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:PG_binding_1	29	89	1.7e-12	PFAM
ZnMc	107	267	6.24e-65	SMART
HX	298	340	4.56e-9	SMART
HX	342	385	2.87e-6	SMART
HX	390	437	4.73e-16	SMART
HX	439	479	3.3e-6	SMART

Coding Region Coverage

Validation Efficiency

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. The encoded protein is activated by the removal of an N-temrinal activation peptide to generate a zinc-dependent endopeptidase with a broad range of substrates such as proteoglycans, laminin, fibronectin, elastin, and collagens. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disrutptions in this gene display abnormalities of the immune system as well as minor structural abnormalities in the neuromuscular junction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	T	A	7: 141,629,273	S793T	probably benign	Het
Btnl6	T	C	17: 34,508,179	D459G	probably damaging	Het
Cacna1g	C	A	11: 94,457,151	D704Y	probably damaging	Het
Cry2	A	G	2: 92,413,715	I371T	probably damaging	Het
Dock3	A	T	9: 107,005,433	F384I	probably benign	Het
Dpp4	T	C	2: 62,356,957		probably null	Het
Hecw1	G	T	13: 14,377,797	D72E	probably damaging	Het
Htt	T	A	5: 34,907,580	W3046R	probably damaging	Het
Hydin	A	T	8: 110,267,363	N10Y	unknown	Het
Ighv8-8	T	A	12: 115,294,140	T94S	probably benign	Het
Igkv4-58	A	G	6: 69,500,554	S20P	probably damaging	Het
Il4i1	T	C	7: 44,837,495		probably benign	Het
Kif13a	A	T	13: 46,764,623	S403T	probably benign	Het
Klhl40	T	C	9: 121,783,380	L616P	probably damaging	Het
Krt7	T	C	15: 101,427,610	L440P	possibly damaging	Het
Lpin1	A	G	12: 16,544,677	L755P	probably damaging	Het
Magee2	C	A	X: 104,855,528	E506*	probably null	Het
Mast3	G	A	8: 70,781,563	R143*	probably null	Het
Med12	T	A	X: 101,278,089	H459Q	probably benign	Het
Muc6	T	C	7: 141,648,082	Y714C	probably damaging	Het
Myh2	T	C	11: 67,183,523	L662S	probably damaging	Het
Notch4	G	T	17: 34,572,568	C567F	probably damaging	Het
Nprl3	A	G	11: 32,250,256	I20T	probably damaging	Het
Olfr1123	A	T	2: 87,418,243	D65V	possibly damaging	Het
Pcdhb19	A	G	18: 37,498,612	T487A	possibly damaging	Het
Phlpp2	A	G	8: 109,940,835	E1332G	probably benign	Het
Pick1	T	C	15: 79,241,281	S113P	probably damaging	Het
Ptpru	T	C	4: 131,779,867	E1023G	probably damaging	Het
Rspry1	A	C	8: 94,650,334	I382L	probably benign	Het
Sf3b3	A	C	8: 110,839,954	V248G	probably damaging	Het
Smg5	T	A	3: 88,346,452	Y126*	probably null	Het
Spert	A	G	14: 75,583,389	S299P	probably benign	Het
Spin1	T	C	13: 51,127,937	V22A	probably benign	Het
Stab1	C	T	14: 31,150,263	R1189Q	possibly damaging	Het
Sytl5	A	G	X: 9,963,700	D538G	probably damaging	Het
Taar7e	T	A	10: 24,037,915	M101K	probably damaging	Het
Taf4	A	G	2: 179,935,054	V578A	probably damaging	Het
Tmem266	G	T	9: 55,437,233	C383F	probably benign	Het
Trim34a	T	C	7: 104,260,933		probably null	Het
Vmn2r104	T	C	17: 20,029,604	T802A	probably damaging	Het
Vmn2r32	A	C	7: 7,464,030	I833S	probably damaging	Het
Vmn2r85	T	C	10: 130,426,459	D137G	probably benign	Het
Vps13c	C	T	9: 67,946,026	S2467L	probably benign	Het

Other mutations in Mmp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Mmp3	APN	9	7445894	utr 5 prime	probably benign
IGL01738:Mmp3	APN	9	7446946	missense	possibly damaging	0.94
IGL02154:Mmp3	APN	9	7453662	missense	probably benign	0.19
IGL02212:Mmp3	APN	9	7450165	missense	probably damaging	1.00
IGL02568:Mmp3	APN	9	7446001	missense	probably benign	0.02
R0047:Mmp3	UTSW	9	7451910	splice site	probably benign
R0047:Mmp3	UTSW	9	7451910	splice site	probably benign
R0356:Mmp3	UTSW	9	7451768	missense	probably benign	0.03
R0390:Mmp3	UTSW	9	7451320	missense	probably benign	0.29
R0401:Mmp3	UTSW	9	7449790	missense	probably damaging	1.00
R0466:Mmp3	UTSW	9	7450165	missense	probably damaging	1.00
R0549:Mmp3	UTSW	9	7455638	missense	probably benign	0.08
R0903:Mmp3	UTSW	9	7445994	missense	probably benign	0.00
R1438:Mmp3	UTSW	9	7453705	missense	probably benign	0.22
R1498:Mmp3	UTSW	9	7446967	missense	possibly damaging	0.95
R1515:Mmp3	UTSW	9	7451232	missense	probably benign	0.01
R1629:Mmp3	UTSW	9	7447641	missense	probably benign	0.00
R1844:Mmp3	UTSW	9	7453662	missense	probably benign	0.19
R1858:Mmp3	UTSW	9	7451799	missense	probably benign	0.08
R2099:Mmp3	UTSW	9	7453672	missense	probably benign	0.01
R2497:Mmp3	UTSW	9	7450131	missense	probably benign	0.00
R2571:Mmp3	UTSW	9	7451844	missense	possibly damaging	0.95
R4659:Mmp3	UTSW	9	7453673	missense	probably benign	0.00
R4687:Mmp3	UTSW	9	7451223	missense	probably benign	0.03
R4717:Mmp3	UTSW	9	7449881	missense	possibly damaging	0.94
R4930:Mmp3	UTSW	9	7447640	missense	probably benign	0.02
R4932:Mmp3	UTSW	9	7446994	missense	probably benign	0.00
R5020:Mmp3	UTSW	9	7445984	missense	probably benign
R5384:Mmp3	UTSW	9	7451759	nonsense	probably null
R5385:Mmp3	UTSW	9	7451759	nonsense	probably null
R5408:Mmp3	UTSW	9	7449904	missense	probably damaging	0.98
R6268:Mmp3	UTSW	9	7447622	missense	possibly damaging	0.78
R7317:Mmp3	UTSW	9	7446937	missense	probably damaging	1.00
R7467:Mmp3	UTSW	9	7447621	missense	possibly damaging	0.93
R7467:Mmp3	UTSW	9	7450125	missense	probably benign	0.07
R8101:Mmp3	UTSW	9	7446985	missense	probably benign	0.19
R9098:Mmp3	UTSW	9	7446936	missense	probably damaging	1.00
R9486:Mmp3	UTSW	9	7451256	missense	possibly damaging	0.50
X0022:Mmp3	UTSW	9	7449857	missense	possibly damaging	0.55

Posted On

2016-08-02