Mutagenetix > Incidental Mutations

Incidental Mutation 'R0595:Mmp10'

55070

Institutional Source

Beutler Lab

Gene Symbol

Mmp10

Ensembl Gene

ENSMUSG00000047562

Gene Name

matrix metallopeptidase 10

Synonyms

stromelysin 2

MMRRC Submission

038785-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R0595 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

7502352-7510240 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 7508198 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 442 (E442K)

Ref Sequence

ENSEMBL: ENSMUSP00000034488 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034488
AA Change: E442K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034488
Gene: ENSMUSG00000047562
AA Change: E442K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,740,417	D1093E	probably damaging	Het
Aldh2	G	T	5: 121,573,500	A276D	probably damaging	Het
Aldh2	C	T	5: 121,573,501	A276T	probably damaging	Het
Aldh7a1	C	T	18: 56,546,893		probably benign	Het
Ano1	C	T	7: 144,590,153	R964H	possibly damaging	Het
Apob	G	A	12: 8,008,369	V2251I	probably benign	Het
Atp6v1e1	A	G	6: 120,801,130	V148A	probably benign	Het
Bbs9	T	A	9: 22,496,815	H73Q	probably benign	Het
Brca1	A	G	11: 101,524,887	V807A	probably benign	Het
Cacna1b	C	T	2: 24,649,989		probably benign	Het
Cadps2	A	T	6: 23,321,704		probably null	Het
Cep152	T	C	2: 125,595,063	Q519R	probably damaging	Het
Cep295	A	C	9: 15,332,191	Y1608*	probably null	Het
Cfap54	T	C	10: 92,884,736	I2619V	unknown	Het
Dnajb9	A	G	12: 44,208,284	V7A	probably benign	Het
Ep400	T	C	5: 110,703,542	K1358R	unknown	Het
Fbxw7	C	A	3: 84,977,367		probably null	Het
Fsip2	T	C	2: 82,946,952	Y108H	probably damaging	Het
Ggt6	T	A	11: 72,437,667	L331Q	probably damaging	Het
Ifitm1	T	A	7: 140,968,329	I25N	possibly damaging	Het
Krt75	C	T	15: 101,568,354	E367K	probably damaging	Het
Lifr	A	G	15: 7,177,469	Y487C	probably damaging	Het
Map3k6	G	T	4: 133,241,263	G59W	probably damaging	Het
Mme	A	G	3: 63,328,181	T129A	probably benign	Het
Myh13	T	C	11: 67,344,846	S646P	probably benign	Het
Nbea	A	T	3: 55,628,496	I2889N	probably benign	Het
Nlrp4d	T	A	7: 10,381,045	K581N	probably benign	Het
Nr3c2	C	T	8: 76,909,604	P445S	possibly damaging	Het
Olfr487	A	T	7: 108,211,661	N289K	probably damaging	Het
Pck1	T	A	2: 173,157,029	V360E	probably damaging	Het
Plekha7	T	C	7: 116,144,968	D766G	probably damaging	Het
Prag1	A	G	8: 36,147,002	N1236S	probably damaging	Het
Prkdc	A	C	16: 15,808,088	Q3326P	probably damaging	Het
Prrc2b	T	C	2: 32,183,177	M57T	probably damaging	Het
Rb1	A	T	14: 73,273,680	F330I	probably damaging	Het
Rufy4	A	G	1: 74,140,930	E448G	possibly damaging	Het
Scn10a	T	A	9: 119,666,063	M371L	probably benign	Het
Sgta	T	C	10: 81,048,908	D189G	probably damaging	Het
Spata31d1b	A	G	13: 59,716,277	H413R	probably benign	Het
Stau2	T	C	1: 16,440,450	T95A	probably damaging	Het
Supt4a	C	T	11: 87,743,156		probably null	Het
Tanc2	A	G	11: 105,714,177		probably null	Het
Tap2	T	A	17: 34,212,354	V422D	probably damaging	Het
Tas2r138	A	G	6: 40,612,865	L149P	probably damaging	Het
Tex15	T	C	8: 33,572,617	S692P	probably damaging	Het
Tgm2	C	T	2: 158,143,042	R48H	probably damaging	Het
Ticrr	T	A	7: 79,695,563	F1725L	possibly damaging	Het
Tnpo2	T	A	8: 85,052,041	C672*	probably null	Het
Xkr9	A	G	1: 13,700,784	I175V	probably benign	Het
Zfp428	T	A	7: 24,515,378	S140T	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
steel	UTSW	9	7506512	missense	probably benign	0.01
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
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
R5231:Mmp10	UTSW	9	7502500	critical splice donor site	probably null
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
Z1176:Mmp10	UTSW	9	7508205	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACATCACACTGTGTCTGATGGGACT -3'
(R):5'- ACCTTAGACGAATTTTGCACCAGTTACA -3'

Sequencing Primer
(F):5'- ACTGTGTCTGATGGGACTTATCAC -3'
(R):5'- agggaagtgggggggag -3'

Posted On

2013-07-11