Mutagenetix > Incidental Mutations

Incidental Mutation 'R6131:Mmp10'

501814

Institutional Source

Beutler Lab

Gene Symbol

Mmp10

Ensembl Gene

ENSMUSG00000047562

Gene Name

matrix metallopeptidase 10

Synonyms

stromelysin 2

MMRRC Submission

044278-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R6131 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7502352-7510240 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 7503632 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034488 (fasta)

Gene Model

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

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

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

96% (50/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,960,592	W75R	probably damaging	Het
Abca15	T	C	7: 120,340,205	V274A	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ap1m2	T	C	9: 21,296,501	Y396C	probably damaging	Het
Apob	T	C	12: 8,015,874	S405P	probably benign	Het
Arhgap26	G	T	18: 39,286,585	G533*	probably null	Het
Atxn2l	T	C	7: 126,503,165		probably benign	Het
Ccdc88c	A	T	12: 100,941,128	L995H	probably damaging	Het
Cep192	A	G	18: 67,837,997	H1023R	possibly damaging	Het
Cog5	T	A	12: 31,886,221	M589K	possibly damaging	Het
Col25a1	C	A	3: 130,535,465	P337Q	probably damaging	Het
Cyfip1	T	G	7: 55,873,480	V51G	possibly damaging	Het
Dnah7b	A	T	1: 46,253,466	I3004F	probably damaging	Het
Dsg3	A	T	18: 20,538,512	D758V	probably damaging	Het
Dsg3	A	G	18: 20,520,477		probably null	Het
Eml5	A	T	12: 98,861,251	H573Q	probably damaging	Het
Erp27	T	C	6: 136,908,203	D199G	probably damaging	Het
Flnb	A	G	14: 7,894,635	Y811C	possibly damaging	Het
G6pd2	A	T	5: 61,809,250	S123C	probably benign	Het
Gm17677	T	A	9: 35,741,544	C27*	probably null	Het
Gm1818	T	A	12: 48,555,536		noncoding transcript	Het
Gm29340	C	T	2: 116,968,038		noncoding transcript	Het
Gm8298	A	G	3: 59,868,903	K165R	possibly damaging	Het
Hcn2	G	T	10: 79,733,908	G581W	probably damaging	Het
Hist1h2bf	C	A	13: 23,574,136		probably benign	Het
Kidins220	T	C	12: 24,992,314		probably null	Het
Lonp1	T	C	17: 56,614,457	E926G	probably benign	Het
Lrp1	T	C	10: 127,560,157	I2415V	probably benign	Het
Mmel1	C	T	4: 154,895,018	H728Y	probably damaging	Het
Myo16	T	A	8: 10,569,877	I1476N	probably benign	Het
Nectin3	G	T	16: 46,395,152	H76N	probably damaging	Het
Nov	A	G	15: 54,749,360	D255G	probably benign	Het
Nphs2	G	A	1: 156,325,951	R204Q	probably damaging	Het
Olfr194	T	C	16: 59,119,893	Y59C	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Olfr920	T	A	9: 38,756,066	I126N	probably damaging	Het
Otx1	A	T	11: 21,999,406	L24H	probably damaging	Het
Psme2b	T	C	11: 48,945,925	D65G	probably damaging	Het
Rlf	T	C	4: 121,154,975	K214E	probably damaging	Het
Rnasel	A	T	1: 153,754,460	T241S	probably damaging	Het
Samd9l	C	G	6: 3,377,252	G3A	probably benign	Het
Smg7	A	G	1: 152,845,211		probably null	Het
Spag16	A	G	1: 70,725,083		probably null	Het
Spata31d1c	T	A	13: 65,035,671	D342E	probably benign	Het
Stab2	A	G	10: 86,883,778		probably null	Het
Taar7b	A	T	10: 24,000,717	Y260F	probably benign	Het
Vcpip1	T	C	1: 9,747,292	I289V	probably damaging	Het
Vmn2r39	A	G	7: 9,014,964	V791A	probably damaging	Het
Vmn2r66	T	A	7: 84,995,016	I729F	probably damaging	Het
Vmn2r-ps130	C	T	17: 23,063,655	A103V	probably benign	Het
Zfp536	T	A	7: 37,569,712	D93V	probably damaging	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
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
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
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
Z1176:Mmp10	UTSW	9	7508205	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCGTTATAAATGTGTCAGGAGC -3'
(R):5'- GCTGCTTTTGCCATAGGAGG -3'

Sequencing Primer
(F):5'- CGTTATAAATGTGTCAGGAGCATCAC -3'
(R):5'- CTGCTTTTGCCATAGGAGGTAACAC -3'

Posted On

2017-12-04