Mutagenetix > Incidental Mutation

Incidental Mutation 'R1487:Mmp10'

163537

Institutional Source

Beutler Lab

Gene Symbol

Mmp10

Ensembl Gene

ENSMUSG00000047562

Gene Name

matrix metallopeptidase 10

Synonyms

stromelysin 2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R1487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7502353-7510241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 7509978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 473 (W473G)

Ref Sequence

ENSEMBL: ENSMUSP00000034488 (fasta)

Gene Model

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

AlphaFold

O55123

Predicted Effect

probably damaging
Transcript: ENSMUST00000034488
AA Change: W473G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034488
Gene: ENSMUSG00000047562
AA Change: W473G

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: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	C	6: 146,854,877 (GRCm39)	V55G	probably benign	Het
Abhd13	A	G	8: 10,037,402 (GRCm39)		probably benign	Het
Arid5b	T	A	10: 67,933,044 (GRCm39)	K953*	probably null	Het
Armh3	A	C	19: 45,928,882 (GRCm39)		probably null	Het
B4galt6	A	G	18: 20,839,571 (GRCm39)	V121A	possibly damaging	Het
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Calu	A	G	6: 29,366,955 (GRCm39)	I208V	probably benign	Het
Cd14	T	C	18: 36,858,537 (GRCm39)	N306S	probably benign	Het
Cdc16	T	A	8: 13,821,445 (GRCm39)	N415K	probably benign	Het
Cfap57	C	A	4: 118,471,978 (GRCm39)	V134F	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Chtf18	T	C	17: 25,939,583 (GRCm39)	K67R	probably benign	Het
Clock	T	C	5: 76,414,201 (GRCm39)		probably null	Het
Cplane1	C	T	15: 8,215,715 (GRCm39)	R424W	probably damaging	Het
Eif4g1	G	A	16: 20,497,623 (GRCm39)		probably benign	Het
Eps8l2	A	T	7: 140,941,531 (GRCm39)	M601L	probably benign	Het
Fat4	A	G	3: 39,050,066 (GRCm39)	E3976G	possibly damaging	Het
Flrt3	T	A	2: 140,502,854 (GRCm39)	H258L	probably damaging	Het
Flt4	C	A	11: 49,523,971 (GRCm39)	T517K	possibly damaging	Het
Galnt7	T	C	8: 57,993,073 (GRCm39)	N416S	probably damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Gm17079	A	T	14: 51,930,542 (GRCm39)		probably null	Het
Gucy2c	T	A	6: 136,725,824 (GRCm39)	I375F	possibly damaging	Het
Hps4	C	T	5: 112,525,865 (GRCm39)	Q629*	probably null	Het
Hunk	A	G	16: 90,183,525 (GRCm39)	Y61C	probably damaging	Het
Itga6	T	C	2: 71,673,584 (GRCm39)	S873P	possibly damaging	Het
Kcnc1	A	G	7: 46,047,298 (GRCm39)	H66R	possibly damaging	Het
Kcnc1	T	C	7: 46,084,772 (GRCm39)		probably null	Het
Khdc3	A	G	9: 73,009,846 (GRCm39)	T19A	probably benign	Het
Kmt2a	T	C	9: 44,745,287 (GRCm39)		probably benign	Het
Lipe	C	T	7: 25,084,240 (GRCm39)	A615T	possibly damaging	Het
Lrguk	A	T	6: 34,039,295 (GRCm39)	M269L	probably benign	Het
Lrrc18	A	G	14: 32,730,640 (GRCm39)	N60D	probably damaging	Het
Magi1	T	C	6: 93,685,060 (GRCm39)	T773A	probably benign	Het
Map3k14	T	A	11: 103,116,163 (GRCm39)	D755V	possibly damaging	Het
Mecom	T	C	3: 30,034,213 (GRCm39)	T488A	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,434 (GRCm39)	V275I	probably benign	Het
Myo7a	A	C	7: 97,703,017 (GRCm39)		probably null	Het
Nadsyn1	C	T	7: 143,360,662 (GRCm39)	V369I	probably benign	Het
Nptxr	C	A	15: 79,674,104 (GRCm39)	G424V	probably damaging	Het
Nrg2	C	T	18: 36,185,965 (GRCm39)	G258E	possibly damaging	Het
Nup210	G	A	6: 91,019,558 (GRCm39)	P221S	probably damaging	Het
Odad2	A	T	18: 7,273,245 (GRCm39)	Y282N	probably damaging	Het
Or52a33	T	A	7: 103,288,801 (GRCm39)	H182L	probably damaging	Het
Or6c208	T	C	10: 129,224,209 (GRCm39)	F236L	probably benign	Het
Oxct1	A	G	15: 4,177,057 (GRCm39)	D477G	possibly damaging	Het
Pcdh8	G	T	14: 80,006,987 (GRCm39)	D525E	probably damaging	Het
Phldb2	A	G	16: 45,609,387 (GRCm39)	S740P	probably damaging	Het
Prss54	A	G	8: 96,286,276 (GRCm39)	S266P	probably benign	Het
Ptprh	T	A	7: 4,555,737 (GRCm39)	I741F	probably damaging	Het
Rab11fip1	G	T	8: 27,644,240 (GRCm39)	S515Y	probably damaging	Het
Recql4	T	A	15: 76,593,183 (GRCm39)	N309I	probably benign	Het
Sec24a	T	C	11: 51,622,713 (GRCm39)	T388A	possibly damaging	Het
Setd6	T	A	8: 96,444,556 (GRCm39)	L83H	probably damaging	Het
Slc6a12	G	A	6: 121,340,716 (GRCm39)	W534*	probably null	Het
St14	C	T	9: 31,008,476 (GRCm39)	C488Y	probably damaging	Het
Supt16	A	G	14: 52,414,065 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,460 (GRCm39)	Y1968C	probably damaging	Het
Tcaim	T	A	9: 122,647,897 (GRCm39)	Y137*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm3	A	T	3: 89,997,389 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,746,352 (GRCm39)	N475K	probably damaging	Het
Twnk	G	T	19: 44,996,815 (GRCm39)		probably null	Het
Zfp287	T	C	11: 62,616,115 (GRCm39)	K192R	probably damaging	Het
Zfp799	G	T	17: 33,039,651 (GRCm39)	T204N	possibly damaging	Het

Other mutations in Mmp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Mmp10	APN	9	7,505,651 (GRCm39)	missense	possibly damaging	0.77
Disco	UTSW	9	7,504,170 (GRCm39)	nonsense	probably null
steel	UTSW	9	7,506,513 (GRCm39)	missense	probably benign	0.01
Strobe	UTSW	9	7,508,199 (GRCm39)	missense	probably benign
R0240:Mmp10	UTSW	9	7,506,544 (GRCm39)	missense	probably damaging	1.00
R0240:Mmp10	UTSW	9	7,506,544 (GRCm39)	missense	probably damaging	1.00
R0503:Mmp10	UTSW	9	7,507,340 (GRCm39)	missense	probably damaging	1.00
R0595:Mmp10	UTSW	9	7,508,199 (GRCm39)	missense	probably benign
R1222:Mmp10	UTSW	9	7,505,682 (GRCm39)	splice site	probably benign
R1622:Mmp10	UTSW	9	7,504,996 (GRCm39)	nonsense	probably null
R1669:Mmp10	UTSW	9	7,505,526 (GRCm39)	critical splice acceptor site	probably null
R1806:Mmp10	UTSW	9	7,506,502 (GRCm39)	missense	probably benign	0.01
R1880:Mmp10	UTSW	9	7,505,575 (GRCm39)	missense	probably benign	0.00
R4749:Mmp10	UTSW	9	7,508,169 (GRCm39)	missense	probably damaging	1.00
R4866:Mmp10	UTSW	9	7,508,190 (GRCm39)	missense	probably damaging	1.00
R5231:Mmp10	UTSW	9	7,502,501 (GRCm39)	critical splice donor site	probably null
R5367:Mmp10	UTSW	9	7,505,603 (GRCm39)	missense	probably damaging	1.00
R5814:Mmp10	UTSW	9	7,503,621 (GRCm39)	missense	possibly damaging	0.91
R6131:Mmp10	UTSW	9	7,503,633 (GRCm39)	splice site	probably null
R6542:Mmp10	UTSW	9	7,506,513 (GRCm39)	missense	probably benign	0.01
R6997:Mmp10	UTSW	9	7,503,531 (GRCm39)	missense	probably benign	0.08
R7400:Mmp10	UTSW	9	7,503,301 (GRCm39)	missense	probably damaging	1.00
R7513:Mmp10	UTSW	9	7,508,128 (GRCm39)	missense	probably damaging	1.00
R7593:Mmp10	UTSW	9	7,503,154 (GRCm39)	missense	probably damaging	1.00
R7676:Mmp10	UTSW	9	7,503,550 (GRCm39)	missense	probably damaging	1.00
R7830:Mmp10	UTSW	9	7,507,284 (GRCm39)	missense	probably benign	0.00
R7967:Mmp10	UTSW	9	7,504,116 (GRCm39)	missense	probably damaging	1.00
R8353:Mmp10	UTSW	9	7,508,203 (GRCm39)	missense	probably damaging	1.00
R8453:Mmp10	UTSW	9	7,508,203 (GRCm39)	missense	probably damaging	1.00
R8728:Mmp10	UTSW	9	7,502,480 (GRCm39)	missense	probably benign
R8788:Mmp10	UTSW	9	7,502,687 (GRCm39)	intron	probably benign
R9023:Mmp10	UTSW	9	7,504,913 (GRCm39)	missense	probably damaging	1.00
R9386:Mmp10	UTSW	9	7,503,388 (GRCm39)	missense	probably damaging	1.00
R9388:Mmp10	UTSW	9	7,504,170 (GRCm39)	nonsense	probably null
R9414:Mmp10	UTSW	9	7,502,489 (GRCm39)	missense	probably benign	0.16
Z1176:Mmp10	UTSW	9	7,508,206 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCTCCCACACTGTGATCTAAGAG -3'
(R):5'- ATGAAAGACATCTGCTGCGCTCATC -3'

Sequencing Primer
(F):5'- aaaagcagagaaatgaagttaaatcc -3'
(R):5'- AGGTGGGAAGTCATGAGACTCA -3'

Posted On

2014-03-28