Mutagenetix > Incidental Mutation

Incidental Mutation 'R0541:Mmp11'

49921

Institutional Source

Beutler Lab

Gene Symbol

Mmp11

Ensembl Gene

ENSMUSG00000000901

Gene Name

matrix metallopeptidase 11

Synonyms

stromelysin 3, ST3, Stmy3

MMRRC Submission

038733-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75759056-75768336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75762767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 229 (H229N)

Ref Sequence

ENSEMBL: ENSMUSP00000112940 (fasta)

Gene Model

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

AlphaFold

Q02853

Predicted Effect

probably damaging
Transcript: ENSMUST00000000924
AA Change: H229N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000924
Gene: ENSMUSG00000000901
AA Change: H229N

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 damaging
Transcript: ENSMUST00000120281
AA Change: H229N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112940
Gene: ENSMUSG00000000901
AA Change: H229N

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

noncoding transcript
Transcript: ENSMUST00000133897

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

Meta Mutation Damage Score

0.9683

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

96% (64/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,740,872 (GRCm39)	M115V	probably benign	Het
4933415A04Rik	TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,478,227 (GRCm39)		probably null	Het
Abca7	C	T	10: 79,843,185 (GRCm39)	A1220V	probably benign	Het
Adamts19	G	A	18: 59,060,372 (GRCm39)		probably null	Het
Agbl1	G	A	7: 76,058,993 (GRCm39)	V194M	probably benign	Het
Arhgap20	G	T	9: 51,760,963 (GRCm39)	S902I	probably damaging	Het
Atp11b	T	G	3: 35,861,093 (GRCm39)	D193E	probably damaging	Het
B3gntl1	A	T	11: 121,535,430 (GRCm39)		probably benign	Het
C2cd2	T	C	16: 97,723,496 (GRCm39)	E7G	possibly damaging	Het
Camta2	A	G	11: 70,572,447 (GRCm39)	L259P	probably benign	Het
Ccni	T	C	5: 93,335,563 (GRCm39)	N192D	probably benign	Het
Cgnl1	A	G	9: 71,558,535 (GRCm39)	I946T	possibly damaging	Het
Chil3	T	C	3: 106,068,548 (GRCm39)		probably null	Het
Cntn5	A	G	9: 9,673,407 (GRCm39)		probably benign	Het
Cpn2	C	T	16: 30,078,169 (GRCm39)	G511S	possibly damaging	Het
Dagla	C	A	19: 10,232,170 (GRCm39)		probably null	Het
Dcc	T	C	18: 71,392,086 (GRCm39)	N1440S	probably damaging	Het
Drosha	T	A	15: 12,907,474 (GRCm39)	N1069K	probably benign	Het
Edc4	A	G	8: 106,616,060 (GRCm39)	T812A	probably benign	Het
Eml4	A	G	17: 83,747,471 (GRCm39)	I238V	probably benign	Het
Ep400	T	C	5: 110,852,882 (GRCm39)	T1288A	unknown	Het
Fastkd1	A	C	2: 69,532,750 (GRCm39)	L539R	probably damaging	Het
Fbln7	G	A	2: 128,719,454 (GRCm39)		probably benign	Het
Fbxo39	A	G	11: 72,209,297 (GRCm39)	I386V	probably benign	Het
Gm17430	T	C	18: 9,726,267 (GRCm39)	K135R	probably damaging	Het
Gm3646	T	A	1: 39,843,483 (GRCm39)	T8S	unknown	Het
Gtsf1	A	T	15: 103,329,619 (GRCm39)	V100E	possibly damaging	Het
Helz2	A	G	2: 180,876,618 (GRCm39)	F1292S	possibly damaging	Het
Igf2bp3	G	A	6: 49,084,401 (GRCm39)		probably benign	Het
Ip6k2	T	G	9: 108,681,826 (GRCm39)	D252E	probably damaging	Het
Iqck	T	A	7: 118,514,817 (GRCm39)	L232Q	probably damaging	Het
Kif18b	A	G	11: 102,806,001 (GRCm39)	V186A	probably damaging	Het
Klhl6	T	A	16: 19,768,197 (GRCm39)		probably null	Het
Lao1	C	T	4: 118,820,999 (GRCm39)	T75I	probably benign	Het
Lyst	T	C	13: 13,855,878 (GRCm39)	F2400L	probably benign	Het
Map3k9	A	T	12: 81,780,997 (GRCm39)	S388T	possibly damaging	Het
Myh7	T	G	14: 55,212,158 (GRCm39)	I1529L	probably benign	Het
Nckap5	G	T	1: 126,623,459 (GRCm39)	D11E	possibly damaging	Het
Ncoa1	A	T	12: 4,373,033 (GRCm39)	F123I	probably damaging	Het
Nelfb	A	T	2: 25,093,992 (GRCm39)	D385E	probably benign	Het
Obscn	C	T	11: 58,972,810 (GRCm39)	V2288M	probably damaging	Het
Or2f1b	A	G	6: 42,739,154 (GRCm39)	H56R	probably damaging	Het
Or4d6	C	T	19: 12,086,884 (GRCm39)	V9M	possibly damaging	Het
Or52x1	A	T	7: 104,853,367 (GRCm39)	M61K	probably damaging	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Otog	T	A	7: 45,918,673 (GRCm39)		probably benign	Het
Oxa1l	A	G	14: 54,605,646 (GRCm39)	E375G	possibly damaging	Het
Pan2	T	A	10: 128,144,091 (GRCm39)	I129K	possibly damaging	Het
Parp1	A	G	1: 180,426,616 (GRCm39)	I919M	probably benign	Het
Pnpla7	T	C	2: 24,885,305 (GRCm39)	Y174H	probably damaging	Het
Polr3b	T	C	10: 84,473,928 (GRCm39)	F169S	probably damaging	Het
Rab10	T	C	12: 3,314,743 (GRCm39)	D45G	probably damaging	Het
Reln	A	G	5: 22,185,107 (GRCm39)	S1537P	possibly damaging	Het
Sema6d	T	A	2: 124,507,197 (GRCm39)	S1045T	probably benign	Het
Setd2	T	C	9: 110,402,741 (GRCm39)	V1794A	probably damaging	Het
Spidr	T	A	16: 15,733,229 (GRCm39)	I589F	probably damaging	Het
Stmn4	A	C	14: 66,595,388 (GRCm39)	I165L	probably benign	Het
Stx5a	T	C	19: 8,727,301 (GRCm39)	M177T	probably damaging	Het
Tll1	T	C	8: 64,491,486 (GRCm39)		probably null	Het
Tmem192	T	C	8: 65,416,912 (GRCm39)	Y168H	probably damaging	Het
Ttc21a	C	T	9: 119,785,892 (GRCm39)		probably benign	Het
Ush2a	A	G	1: 188,446,663 (GRCm39)		probably benign	Het
Vezf1	A	G	11: 87,972,403 (GRCm39)	M255V	possibly damaging	Het
Vmn2r25	A	G	6: 123,816,786 (GRCm39)	F265S	probably damaging	Het
Vps13a	A	G	19: 16,681,941 (GRCm39)	S1021P	probably benign	Het
Wfdc16	T	C	2: 164,477,773 (GRCm39)	E92G	possibly damaging	Het
Zkscan2	T	C	7: 123,079,423 (GRCm39)	T845A	possibly damaging	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
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
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'- GCACATACTGGAGCCATAAGACCG -3'
(R):5'- GACCCATCTTCCAGATGAGGCAAC -3'

Sequencing Primer
(F):5'- CAGCAGTGCAATCTCATTGG -3'
(R):5'- TCTTCCAGATGAGGCAACTAAGG -3'

Posted On

2013-06-12