Mutagenetix > Incidental Mutation

Incidental Mutation 'R5231:Mmp10'

398526

Institutional Source

Beutler Lab

Gene Symbol

Mmp10

Ensembl Gene

ENSMUSG00000047562

Gene Name

matrix metallopeptidase 10

Synonyms

stromelysin 2

MMRRC Submission

042803-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R5231 (G1)

Quality Score

182

Status

Not validated

Chromosome

Chromosomal Location

7502352-7510240 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 7502500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034488]

AlphaFold

O55123

Predicted Effect

probably null
Transcript: ENSMUST00000034488

SMART Domains

Protein: ENSMUSP00000034488
Gene: ENSMUSG00000047562

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:PG_binding_1	27	87	3.2e-12	PFAM
ZnMc	105	265	1.81e-61	SMART
HX	295	337	2.03e-6	SMART
HX	339	382	9.11e-9	SMART
HX	387	434	8.49e-18	SMART
HX	436	476	3.88e-3	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

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 preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. The lack of encoded protein in mice promotes experimental lung cancer formation, exacerbates experimental colitis and promotes development of inflammation-associated colonic dysplasia. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,683,951	H716L	possibly damaging	Het
9130019O22Rik	T	C	7: 127,385,414	Y172C	probably damaging	Het
Adat3	T	C	10: 80,606,426	S33P	possibly damaging	Het
Bche	G	A	3: 73,700,861	P411S	probably benign	Het
Chil3	A	G	3: 106,155,729	S182P	probably damaging	Het
Col6a4	T	C	9: 106,025,531	E1653G	probably damaging	Het
Csk	G	T	9: 57,630,378	H84Q	probably damaging	Het
Csmd2	A	G	4: 128,546,049	T3099A	probably benign	Het
Deup1	G	T	9: 15,575,199	A395E	probably damaging	Het
Frem2	T	C	3: 53,522,295	Y2778C	probably damaging	Het
Gm10020	T	C	15: 52,478,044		noncoding transcript	Het
Igfn1	T	C	1: 135,966,736	T2031A	probably benign	Het
Ighv1-53	C	A	12: 115,158,605	S50I	probably benign	Het
Ighv1-62-3	A	T	12: 115,461,051	M100K	possibly damaging	Het
Igkv2-109	T	A	6: 68,302,445	F3I	probably benign	Het
Isl1	T	C	13: 116,301,657	D296G	probably benign	Het
Klk1b16	T	A	7: 44,137,347	L10Q	probably damaging	Het
Kmt2c	A	T	5: 25,315,473	S1880T	possibly damaging	Het
Lhcgr	T	A	17: 88,755,611	N211I	probably damaging	Het
Ltb	C	T	17: 35,195,826	L201F	probably damaging	Het
Mfsd2a	A	G	4: 122,959,301	F64S	possibly damaging	Het
Mycbp2	A	C	14: 103,346,214		probably null	Het
Olfr1499	A	T	19: 13,815,347	I81N	probably damaging	Het
Olfr181	T	C	16: 58,925,714	I286V	possibly damaging	Het
Olfr394	C	A	11: 73,887,955	C139F	probably damaging	Het
Olfr589	A	T	7: 103,154,968	F260I	probably damaging	Het
Peg10	C	T	6: 4,756,939		probably benign	Het
Plscr1	C	A	9: 92,266,731	P208H	probably damaging	Het
Rhot1	T	C	11: 80,227,334		probably null	Het
Smarcc2	T	C	10: 128,461,352	Y38H	probably damaging	Het
Stat2	T	C	10: 128,281,242		probably null	Het
Trip11	T	C	12: 101,885,601	K735E	probably damaging	Het
Ttll1	T	A	15: 83,489,466		probably null	Het
Vmn2r37	C	A	7: 9,206,595	L639F	possibly damaging	Het
Vmn2r60	A	T	7: 42,137,024	Q417L	possibly damaging	Het
Vps8	A	T	16: 21,576,725	D1255V	probably damaging	Het
Zfp354b	A	C	11: 50,923,090	I336S	probably benign	Het

Other mutations in Mmp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Mmp10	APN	9	7505650	missense	possibly damaging	0.77
Disco	UTSW	9	7504169	nonsense	probably null
steel	UTSW	9	7506512	missense	probably benign	0.01
Strobe	UTSW	9	7508198	missense	probably benign
R0240:Mmp10	UTSW	9	7506543	missense	probably damaging	1.00
R0240:Mmp10	UTSW	9	7506543	missense	probably damaging	1.00
R0503:Mmp10	UTSW	9	7507339	missense	probably damaging	1.00
R0595:Mmp10	UTSW	9	7508198	missense	probably benign
R1222:Mmp10	UTSW	9	7505681	splice site	probably benign
R1487:Mmp10	UTSW	9	7509977	missense	probably damaging	0.98
R1622:Mmp10	UTSW	9	7504995	nonsense	probably null
R1669:Mmp10	UTSW	9	7505525	critical splice acceptor site	probably null
R1806:Mmp10	UTSW	9	7506501	missense	probably benign	0.01
R1880:Mmp10	UTSW	9	7505574	missense	probably benign	0.00
R4749:Mmp10	UTSW	9	7508168	missense	probably damaging	1.00
R4866:Mmp10	UTSW	9	7508189	missense	probably damaging	1.00
R5367:Mmp10	UTSW	9	7505602	missense	probably damaging	1.00
R5814:Mmp10	UTSW	9	7503620	missense	possibly damaging	0.91
R6131:Mmp10	UTSW	9	7503632	splice site	probably null
R6542:Mmp10	UTSW	9	7506512	missense	probably benign	0.01
R6997:Mmp10	UTSW	9	7503530	missense	probably benign	0.08
R7400:Mmp10	UTSW	9	7503300	missense	probably damaging	1.00
R7513:Mmp10	UTSW	9	7508127	missense	probably damaging	1.00
R7593:Mmp10	UTSW	9	7503153	missense	probably damaging	1.00
R7676:Mmp10	UTSW	9	7503549	missense	probably damaging	1.00
R7830:Mmp10	UTSW	9	7507283	missense	probably benign	0.00
R7967:Mmp10	UTSW	9	7504115	missense	probably damaging	1.00
R8353:Mmp10	UTSW	9	7508202	missense	probably damaging	1.00
R8453:Mmp10	UTSW	9	7508202	missense	probably damaging	1.00
R8728:Mmp10	UTSW	9	7502479	missense	probably benign
R8788:Mmp10	UTSW	9	7502686	intron	probably benign
R9023:Mmp10	UTSW	9	7504912	missense	probably damaging	1.00
R9386:Mmp10	UTSW	9	7503387	missense	probably damaging	1.00
R9388:Mmp10	UTSW	9	7504169	nonsense	probably null
R9414:Mmp10	UTSW	9	7502488	missense	probably benign	0.16
Z1176:Mmp10	UTSW	9	7508205	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GACTCCCTATAAAAGAGTGGCC -3'
(R):5'- ACTTCGGCTGCTGTCATTG -3'

Sequencing Primer
(F):5'- TCCCTATAAAAGAGTGGCCACTAAAG -3'
(R):5'- ATTTACCCCCAGTAACTGCG -3'

Posted On

2016-07-06