Mutagenetix > Incidental Mutation

Incidental Mutation 'R7146:Mmp11'

553810

Institutional Source

Beutler Lab

Gene Symbol

Mmp11

Ensembl Gene

ENSMUSG00000000901

Gene Name

matrix metallopeptidase 11

Synonyms

stromelysin 3, ST3, Stmy3

MMRRC Submission

045251-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7146 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75759056-75768336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75764280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 62 (T62A)

Ref Sequence

ENSEMBL: ENSMUSP00000000924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000924] [ENSMUST00000120281] [ENSMUST00000132869] [ENSMUST00000219728] [ENSMUST00000219839]

AlphaFold

Q02853

PDB Structure

CRYSTAL STRUCTURE OF THE STROMELYSIN-3 (MMP-11) CATALYTIC DOMAIN COMPLEXED WITH A PHOSPHINIC INHIBITOR [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000000924
AA Change: T62A

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

SMART Domains

Protein: ENSMUSP00000000924
Gene: ENSMUSG00000000901
AA Change: T62A

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
ZnMc	105	263	2.58e-57	SMART
HX	302	345	1.16e-10	SMART
HX	347	388	1.27e-7	SMART
HX	391	438	7.63e-11	SMART
HX	440	484	6.91e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120281
AA Change: T62A

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

SMART Domains

Protein: ENSMUSP00000112940
Gene: ENSMUSG00000000901
AA Change: T62A

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
ZnMc	105	263	2.58e-57	SMART
HX	302	345	1.16e-10	SMART
HX	347	388	1.27e-7	SMART
HX	391	438	7.63e-11	SMART
HX	440	484	6.91e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132869

Predicted Effect

probably benign
Transcript: ENSMUST00000152222

SMART Domains

Protein: ENSMUSP00000116279
Gene: ENSMUSG00000000901

Domain	Start	End	E-Value	Type
Blast:HX	2	26	1e-8	BLAST
HX	29	76	7.63e-11	SMART
HX	78	117	1.91e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000219728

Predicted Effect

probably benign
Transcript: ENSMUST00000219839

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

95% (99/104)

MGI Phenotype

FUNCTION: This gene encodes a member of the matrix metalloproteinase family of endopeptidases that are involved in remodeling extracellular matrix during, for example, embryonic development and tumor progression. The encoded protein undergoes post-translational proteolytic processing by furin endopeptidase to form an active enzyme. Subcutaneous introduction of cells expressing the encoded protein into nude mice results in increased tumor incidence. Mice lacking the encoded protein exhibit a decreased incidence of chemically-induced tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice exhibit a decreased incidence of DMBA-induced carcinomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,854,520 (GRCm39)	I895F	probably benign	Het
Abca16	A	G	7: 120,126,974 (GRCm39)	N1222D	possibly damaging	Het
Abcc4	A	T	14: 118,852,593 (GRCm39)	Y499N	probably damaging	Het
Adgrg7	A	C	16: 56,550,605 (GRCm39)	C702W	probably damaging	Het
Adk	C	A	14: 21,376,682 (GRCm39)	P27H		Het
Ankrd13a	T	C	5: 114,913,293 (GRCm39)	S2P	probably damaging	Het
Ano1	T	C	7: 144,209,393 (GRCm39)	H269R	probably benign	Het
Aox3	T	A	1: 58,197,688 (GRCm39)		probably null	Het
Asl	G	A	5: 130,053,290 (GRCm39)		probably benign	Het
Asxl2	A	T	12: 3,507,066 (GRCm39)	D86V	probably damaging	Het
Ate1	A	T	7: 130,083,508 (GRCm39)		probably null	Het
Bach2	A	G	4: 32,562,670 (GRCm39)	D379G	probably damaging	Het
Bdkrb1	T	A	12: 105,571,142 (GRCm39)	L236Q	probably damaging	Het
Cacna2d3	T	C	14: 29,443,654 (GRCm39)	Y24C	unknown	Het
Cage1	G	T	13: 38,207,025 (GRCm39)	N273K	probably benign	Het
Ccdc51	T	A	9: 108,920,848 (GRCm39)	I245N	probably damaging	Het
Cep152	T	C	2: 125,456,325 (GRCm39)	I229V	probably benign	Het
Chst4	T	A	8: 110,757,363 (GRCm39)	S167C	probably damaging	Het
Cntnap4	A	T	8: 113,537,268 (GRCm39)	Y713F	probably damaging	Het
Cntnap5b	G	A	1: 99,978,519 (GRCm39)		probably null	Het
Cog8	G	T	8: 107,779,005 (GRCm39)	T424K	possibly damaging	Het
Cop1	T	G	1: 159,071,922 (GRCm39)		probably null	Het
Cyp2j6	A	G	4: 96,434,019 (GRCm39)	I97T	probably damaging	Het
D430041D05Rik	T	C	2: 104,088,698 (GRCm39)	T131A	probably benign	Het
Dnah17	T	C	11: 117,972,936 (GRCm39)	D1999G	probably damaging	Het
Dnah8	A	G	17: 30,863,591 (GRCm39)	D250G	probably benign	Het
Dnah8	T	C	17: 30,988,618 (GRCm39)	V3196A	possibly damaging	Het
Dscam	A	T	16: 96,631,117 (GRCm39)	Y299*	probably null	Het
Efcab3	A	G	11: 104,858,578 (GRCm39)	N3879S	unknown	Het
Efcab3	A	C	11: 104,913,764 (GRCm39)	D4594A	probably benign	Het
Ephb1	A	G	9: 101,841,157 (GRCm39)	S774P	probably damaging	Het
Fat1	G	A	8: 45,403,962 (GRCm39)	V238I	probably benign	Het
Fermt1	C	T	2: 132,776,785 (GRCm39)	M234I	probably benign	Het
Fmnl2	C	T	2: 52,958,552 (GRCm39)	S212L		Het
Frem1	T	C	4: 82,840,532 (GRCm39)	N1798S	possibly damaging	Het
Gabrd	T	A	4: 155,469,863 (GRCm39)	M449L	probably benign	Het
Gad1	T	C	2: 70,417,706 (GRCm39)	F302L	probably benign	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGTAAATAGTAGGTGCTCACTGAGGCCTGTAGACAGTAGGTGCTCA	GGGCCTGTAGACAGTAGGTGCTCA	18: 80,132,697 (GRCm39)		probably benign	Het
Gnb3	C	T	6: 124,813,887 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,271,993 (GRCm39)	M642K	possibly damaging	Het
Hps3	A	T	3: 20,063,050 (GRCm39)	W838R	probably damaging	Het
Ide	A	T	19: 37,273,343 (GRCm39)	W527R		Het
Ighe	A	T	12: 113,235,975 (GRCm39)	I117N		Het
Ighv1-50	T	C	12: 115,083,396 (GRCm39)	E108G	probably benign	Het
Ivl	G	A	3: 92,479,538 (GRCm39)	P176S	probably damaging	Het
Lamb2	T	A	9: 108,361,283 (GRCm39)	L605Q	possibly damaging	Het
Lgi3	G	A	14: 70,770,832 (GRCm39)	R157H	probably damaging	Het
Lrp1b	G	T	2: 41,266,006 (GRCm39)	C1053*	probably null	Het
Mcpt9	A	T	14: 56,264,445 (GRCm39)	S217T	probably damaging	Het
Mgat4c	T	G	10: 102,224,357 (GRCm39)	N190K	probably damaging	Het
Mknk1	T	A	4: 115,721,789 (GRCm39)	V111D	probably damaging	Het
Mmp1b	C	A	9: 7,385,014 (GRCm39)	V212F	probably damaging	Het
Mmp7	A	G	9: 7,697,587 (GRCm39)		probably null	Het
Muc5b	C	T	7: 141,417,704 (GRCm39)	T3550M	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nphp3	A	T	9: 103,882,036 (GRCm39)	K169*	probably null	Het
Npy6r	G	T	18: 44,408,788 (GRCm39)	V70F	probably benign	Het
Nsun2	T	A	13: 69,774,672 (GRCm39)		probably null	Het
Oplah	T	A	15: 76,186,860 (GRCm39)	I652F	probably benign	Het
Pcdh18	T	C	3: 49,710,271 (GRCm39)	N348S	probably damaging	Het
Pcdhb5	T	A	18: 37,454,409 (GRCm39)	V263D	probably damaging	Het
Pcdhga1	C	A	18: 37,795,164 (GRCm39)	T56N	probably benign	Het
Pdk4	A	G	6: 5,491,068 (GRCm39)		probably null	Het
Pfkp	C	A	13: 6,652,817 (GRCm39)	V434F	probably benign	Het
Phospho1	G	A	11: 95,721,732 (GRCm39)	R134H	probably damaging	Het
Polg2	G	T	11: 106,663,572 (GRCm39)	Q374K	probably benign	Het
Ptpra	T	C	2: 130,379,571 (GRCm39)		probably null	Het
Rassf3	C	T	10: 121,252,052 (GRCm39)	E120K	probably benign	Het
Reln	A	T	5: 22,311,095 (GRCm39)	S273T	probably damaging	Het
Scarb1	C	T	5: 125,361,089 (GRCm39)	A133T	probably benign	Het
Scn3a	T	A	2: 65,313,486 (GRCm39)	K1142N	probably damaging	Het
Sema3c	G	A	5: 17,899,701 (GRCm39)	V398I	probably benign	Het
Serpine1	C	A	5: 137,099,918 (GRCm39)	Q80H	probably damaging	Het
Sh3gl1	G	A	17: 56,324,646 (GRCm39)	T334M	probably damaging	Het
Smg7	T	C	1: 152,737,576 (GRCm39)	N122D	probably benign	Het
Speer4b	T	C	5: 27,703,708 (GRCm39)	I144V	probably benign	Het
Spire2	T	A	8: 124,095,989 (GRCm39)	D671E	probably benign	Het
Sspo	A	T	6: 48,478,029 (GRCm39)	H5144L	probably benign	Het
Sstr2	A	T	11: 113,516,179 (GRCm39)	Q366L	probably damaging	Het
Ssu72	T	C	4: 155,815,850 (GRCm39)	F98S	probably damaging	Het
Syde2	C	T	3: 145,712,870 (GRCm39)	Q1003*	probably null	Het
Tapbp	G	A	17: 34,144,461 (GRCm39)	A186T	possibly damaging	Het
Tcf12	T	A	9: 71,790,385 (GRCm39)		probably null	Het
Tnfrsf22	A	T	7: 143,194,556 (GRCm39)	C124S	probably damaging	Het
Txlnb	A	T	10: 17,703,546 (GRCm39)	T235S	possibly damaging	Het
Uaca	T	C	9: 60,777,695 (GRCm39)	L694P	probably damaging	Het
Unc13a	T	A	8: 72,083,197 (GRCm39)	N1620Y	probably damaging	Het
Vmn2r10	C	T	5: 109,151,200 (GRCm39)	C138Y	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r28	T	A	7: 5,484,495 (GRCm39)	E568D	probably benign	Het
Vmn2r57	A	T	7: 41,097,895 (GRCm39)	H57Q	possibly damaging	Het
Vwa5b1	A	G	4: 138,308,923 (GRCm39)	S756P	probably benign	Het
Washc5	C	A	15: 59,224,350 (GRCm39)	E470*	probably null	Het
Xpot	A	T	10: 121,442,678 (GRCm39)	V508D	probably damaging	Het
Zfp616	A	T	11: 73,976,087 (GRCm39)	K785N	possibly damaging	Het
Zfp653	T	C	9: 21,977,195 (GRCm39)	N119D	probably damaging	Het
Zfp729b	A	G	13: 67,741,495 (GRCm39)	S257P	probably damaging	Het
Zfp82	T	A	7: 29,755,592 (GRCm39)	T497S	probably benign	Het
Znrf4	T	G	17: 56,819,305 (GRCm39)	M1L	probably benign	Het

Other mutations in Mmp11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Mmp11	APN	10	75,762,655 (GRCm39)	missense	probably benign	0.00
IGL01690:Mmp11	APN	10	75,762,730 (GRCm39)	missense	probably damaging	1.00
IGL01804:Mmp11	APN	10	75,764,304 (GRCm39)	missense	probably benign
R0285:Mmp11	UTSW	10	75,761,502 (GRCm39)	missense	probably damaging	1.00
R0491:Mmp11	UTSW	10	75,762,592 (GRCm39)	missense	probably benign	0.04
R0541:Mmp11	UTSW	10	75,762,767 (GRCm39)	missense	probably damaging	1.00
R1857:Mmp11	UTSW	10	75,764,191 (GRCm39)	missense	probably benign	0.01
R2400:Mmp11	UTSW	10	75,761,344 (GRCm39)	missense	probably benign	0.18
R2442:Mmp11	UTSW	10	75,763,079 (GRCm39)	missense	probably benign	0.09
R3157:Mmp11	UTSW	10	75,762,948 (GRCm39)	unclassified	probably benign
R3158:Mmp11	UTSW	10	75,762,948 (GRCm39)	unclassified	probably benign
R3159:Mmp11	UTSW	10	75,762,948 (GRCm39)	unclassified	probably benign
R4915:Mmp11	UTSW	10	75,761,419 (GRCm39)	missense	probably damaging	1.00
R4917:Mmp11	UTSW	10	75,761,419 (GRCm39)	missense	probably damaging	1.00
R5137:Mmp11	UTSW	10	75,761,290 (GRCm39)	missense	probably damaging	1.00
R5848:Mmp11	UTSW	10	75,763,223 (GRCm39)	missense	probably damaging	1.00
R6156:Mmp11	UTSW	10	75,762,325 (GRCm39)	missense	probably damaging	1.00
R6313:Mmp11	UTSW	10	75,759,818 (GRCm39)	makesense	probably null
R6569:Mmp11	UTSW	10	75,763,216 (GRCm39)	start gained	probably benign
R6753:Mmp11	UTSW	10	75,764,208 (GRCm39)	missense	probably damaging	1.00
R7027:Mmp11	UTSW	10	75,768,230 (GRCm39)	unclassified	probably benign
R7163:Mmp11	UTSW	10	75,762,410 (GRCm39)	missense	possibly damaging	0.64
R7797:Mmp11	UTSW	10	75,759,314 (GRCm39)	missense
R9197:Mmp11	UTSW	10	75,763,067 (GRCm39)	missense	probably damaging	1.00
R9443:Mmp11	UTSW	10	75,762,733 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCATAGAGTCTTGTTCCCCTG -3'
(R):5'- CCTGGGGATCTGAAATCTGAC -3'

Sequencing Primer
(F):5'- GCCTTCTGGTCCCTACCTATAGG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2019-05-15