Mutagenetix > Incidental Mutation

Incidental Mutation 'R7027:Mmp11'

546058

Institutional Source

Beutler Lab

Gene Symbol

Mmp11

Ensembl Gene

ENSMUSG00000000901

Gene Name

matrix metallopeptidase 11

Synonyms

stromelysin 3, ST3, Stmy3

MMRRC Submission

045128-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7027 (G1)

Quality Score

147.008

Status

Not validated

Chromosome

Chromosomal Location

75759056-75768336 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 75768230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000924] [ENSMUST00000058906] [ENSMUST00000120281] [ENSMUST00000219728] [ENSMUST00000219839]

AlphaFold

Q02853

Predicted Effect

unknown
Transcript: ENSMUST00000000924
AA Change: P20S

SMART Domains

Protein: ENSMUSP00000000924
Gene: ENSMUSG00000000901
AA Change: P20S

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: ENSMUST00000058906

SMART Domains

Protein: ENSMUSP00000059575
Gene: ENSMUSG00000049422

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
low complexity region	45	64	N/A	INTRINSIC
low complexity region	76	89	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000120281
AA Change: P20S

SMART Domains

Protein: ENSMUSP00000112940
Gene: ENSMUSG00000000901
AA Change: P20S

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: ENSMUST00000219728

Predicted Effect

probably benign
Transcript: ENSMUST00000219839

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (85/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	T	2: 127,852,003 (GRCm39)	M102L	probably benign	Het
Adcy10	A	G	1: 165,345,815 (GRCm39)	E288G	probably damaging	Het
Agap1	A	G	1: 89,816,444 (GRCm39)	H748R	probably benign	Het
Ahsg	T	C	16: 22,711,007 (GRCm39)	L48P	probably damaging	Het
Ankrd27	A	G	7: 35,311,951 (GRCm39)	T394A	probably benign	Het
Apc	T	G	18: 34,445,129 (GRCm39)	V657G	probably damaging	Het
Arl2	T	C	19: 6,191,119 (GRCm39)	T5A	probably benign	Het
B020011L13Rik	A	G	1: 117,729,180 (GRCm39)	Y229C	probably benign	Het
B3gnt5	T	A	16: 19,588,740 (GRCm39)	S320T	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
BC107364	T	G	3: 96,348,057 (GRCm39)	R77S	unknown	Het
Brox	G	A	1: 183,065,750 (GRCm39)	P206L	possibly damaging	Het
Ccrl2	T	C	9: 110,884,953 (GRCm39)	K182E	probably benign	Het
Cd19	A	G	7: 126,009,671 (GRCm39)	V465A	possibly damaging	Het
Chrdl2	A	T	7: 99,671,240 (GRCm39)	Q126H	probably damaging	Het
Cnbd1	G	A	4: 18,862,063 (GRCm39)	P376S	probably benign	Het
Cobll1	A	G	2: 64,919,847 (GRCm39)	S1194P	probably benign	Het
Col6a4	T	C	9: 105,944,213 (GRCm39)	Y1087C	probably damaging	Het
Col9a2	G	A	4: 120,901,216 (GRCm39)		probably null	Het
Cyp4v3	A	G	8: 45,763,289 (GRCm39)	S341P	possibly damaging	Het
Dnah7a	T	A	1: 53,670,665 (GRCm39)	Y529F	probably benign	Het
Eif3b	C	T	5: 140,411,043 (GRCm39)	R165W	probably damaging	Het
Erlec1	C	A	11: 30,900,790 (GRCm39)	C126F	probably damaging	Het
Fads2b	A	G	2: 85,315,871 (GRCm39)	Y440H	probably damaging	Het
Fat2	T	C	11: 55,160,259 (GRCm39)	T3285A	probably benign	Het
Fat2	G	A	11: 55,172,677 (GRCm39)	R2679*	probably null	Het
Fbxo31	T	C	8: 122,305,224 (GRCm39)	T91A	probably damaging	Het
Fkbp5	A	G	17: 28,631,037 (GRCm39)	Y243H	probably damaging	Het
Flcn	C	T	11: 59,686,632 (GRCm39)	V374M	probably damaging	Het
Fndc5	A	G	4: 129,033,316 (GRCm39)	M128V	probably benign	Het
Gal3st1	A	G	11: 3,949,002 (GRCm39)	D403G	probably damaging	Het
Garem1	T	C	18: 21,263,051 (GRCm39)	N588D	probably benign	Het
Gas1	T	C	13: 60,324,047 (GRCm39)	T196A	probably damaging	Het
Gcn1	T	C	5: 115,754,605 (GRCm39)		probably null	Het
Gprc5d	T	G	6: 135,093,646 (GRCm39)	Q87P	probably damaging	Het
Grm1	A	G	10: 10,595,339 (GRCm39)	L763P	probably damaging	Het
Hivep2	G	T	10: 14,025,321 (GRCm39)	K2378N	probably damaging	Het
Hivep2	G	T	10: 14,025,322 (GRCm39)	D2379Y	probably damaging	Het
Itgad	A	G	7: 127,782,161 (GRCm39)	Y199C	probably damaging	Het
Itm2c	A	G	1: 85,834,206 (GRCm39)	I174V	probably benign	Het
Khdrbs2	A	G	1: 32,453,997 (GRCm39)	S128G	probably benign	Het
Map3k9	T	C	12: 81,777,398 (GRCm39)	T528A	probably benign	Het
Mycbpap	T	A	11: 94,405,440 (GRCm39)	I30F	probably damaging	Het
Nfya	T	C	17: 48,696,340 (GRCm39)	T335A	probably benign	Het
Npat	T	A	9: 53,481,216 (GRCm39)	S1008T	possibly damaging	Het
Or10al5	G	A	17: 38,063,300 (GRCm39)	C185Y	probably damaging	Het
Or12e10	A	G	2: 87,641,060 (GRCm39)	T299A	possibly damaging	Het
Or5p69	A	T	7: 107,967,557 (GRCm39)	M287L	probably damaging	Het
Or6c219	C	T	10: 129,781,041 (GRCm39)	A297T	possibly damaging	Het
Osbpl10	T	C	9: 115,052,766 (GRCm39)	V613A	probably damaging	Het
Pcdhga8	T	C	18: 37,860,164 (GRCm39)	W407R	probably benign	Het
Pcdhgb4	A	G	18: 37,854,415 (GRCm39)	D270G	probably damaging	Het
Pde2a	A	C	7: 101,160,804 (GRCm39)	E918D	probably damaging	Het
Plekhg5	A	G	4: 152,198,431 (GRCm39)	D873G	probably benign	Het
Pno1	A	T	11: 17,158,880 (GRCm39)	S173T	possibly damaging	Het
Ppfia3	A	G	7: 45,004,160 (GRCm39)	I494T	possibly damaging	Het
Prkrip1	C	A	5: 136,210,267 (GRCm39)		probably benign	Het
Psma5	A	G	3: 108,172,484 (GRCm39)	I67V	probably benign	Het
Reep6	G	A	10: 80,169,799 (GRCm39)		probably null	Het
Rtl1	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	12: 109,557,848 (GRCm39)		probably benign	Het
Scyl2	C	G	10: 89,481,323 (GRCm39)		probably null	Het
Sdk1	T	A	5: 142,082,481 (GRCm39)		probably null	Het
Senp5	C	A	16: 31,808,113 (GRCm39)	K380N	probably benign	Het
Slc22a14	A	T	9: 119,060,281 (GRCm39)		probably null	Het
Slc26a5	T	A	5: 22,021,972 (GRCm39)	T485S	possibly damaging	Het
Slc44a5	T	C	3: 153,959,356 (GRCm39)	I349T	probably benign	Het
Smarca5	T	C	8: 81,463,355 (GRCm39)	E71G	probably benign	Het
Smok2a	A	T	17: 13,444,666 (GRCm39)	H81L	probably damaging	Het
Snrnp200	A	G	2: 127,059,192 (GRCm39)	D388G	probably benign	Het
Tank	T	C	2: 61,483,766 (GRCm39)	V404A	probably benign	Het
Tek	A	G	4: 94,753,747 (GRCm39)	D1063G	probably damaging	Het
Tfap2a	C	T	13: 40,887,150 (GRCm39)	C16Y	probably benign	Het
Tmc1	A	G	19: 20,918,267 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,902,826 (GRCm39)	F1484L	probably benign	Het
Tnfsf13	T	A	11: 69,575,958 (GRCm39)		probably null	Het
Tnrc6c	T	A	11: 117,624,444 (GRCm39)	S919T	probably damaging	Het
Trim17	C	A	11: 58,859,442 (GRCm39)	Q219K	probably benign	Het
Trim5	T	A	7: 103,914,875 (GRCm39)	H389L	probably benign	Het
Trio	T	A	15: 27,805,740 (GRCm39)	M583L	possibly damaging	Het
Ttll10	A	T	4: 156,120,258 (GRCm39)	H389Q	possibly damaging	Het
Usp24	T	C	4: 106,219,441 (GRCm39)	S546P	probably benign	Het
Vmn1r19	T	A	6: 57,381,475 (GRCm39)	Y9*	probably null	Het
Vmn2r50	T	A	7: 9,781,539 (GRCm39)	D402V	probably damaging	Het
Vmn2r93	C	A	17: 18,533,548 (GRCm39)	A484E	probably benign	Het
Vps13a	T	C	19: 16,642,028 (GRCm39)	T2200A	probably benign	Het
Wdr36	T	A	18: 32,974,958 (GRCm39)	H103Q	probably benign	Het
Zfp534	G	A	4: 147,759,667 (GRCm39)	T334I	possibly damaging	Het
Zfp804b	C	T	5: 6,820,372 (GRCm39)	S897N	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
R7146:Mmp11	UTSW	10	75,764,280 (GRCm39)	missense	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'- TAGTACGCTCAGAGAGACCCAG -3'
(R):5'- CAGGCCGGTTGAGTTTAGAAC -3'

Sequencing Primer
(F):5'- ACCCAGAAGGCATTTCGG -3'
(R):5'- CCGGTTGAGTTTAGAACAAAAGGC -3'

Posted On

2019-05-13