Mutagenetix > Incidental Mutation

Incidental Mutation 'R5137:Mmp11'

396222

Institutional Source

Beutler Lab

Gene Symbol

Mmp11

Ensembl Gene

ENSMUSG00000000901

Gene Name

matrix metallopeptidase 11

Synonyms

stromelysin 3, ST3, Stmy3

MMRRC Submission

042723-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75759056-75768336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75761290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 437 (P437S)

Ref Sequence

ENSEMBL: ENSMUSP00000112940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000924] [ENSMUST00000000925] [ENSMUST00000120281] [ENSMUST00000121304] [ENSMUST00000132869] [ENSMUST00000140388] [ENSMUST00000219728]

AlphaFold

Q02853

Predicted Effect

probably damaging
Transcript: ENSMUST00000000924
AA Change: P437S

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

SMART Domains

Protein: ENSMUSP00000000924
Gene: ENSMUSG00000000901
AA Change: P437S

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: ENSMUST00000000925

SMART Domains

Protein: ENSMUSP00000000925
Gene: ENSMUSG00000000902

Domain	Start	End	E-Value	Type
Blast:HX	31	52	9e-8	BLAST
Pfam:SNF5	179	254	1.1e-27	PFAM
Pfam:SNF5	249	373	3.1e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120281
AA Change: P437S

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

SMART Domains

Protein: ENSMUSP00000112940
Gene: ENSMUSG00000000901
AA Change: P437S

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: ENSMUST00000121304

SMART Domains

Protein: ENSMUSP00000112463
Gene: ENSMUSG00000000902

Domain	Start	End	E-Value	Type
Blast:HX	31	52	9e-8	BLAST
Pfam:SNF5	169	364	1.7e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133897

Predicted Effect

probably benign
Transcript: ENSMUST00000140388

Predicted Effect

unknown
Transcript: ENSMUST00000152222
AA Change: P74S

SMART Domains

Protein: ENSMUSP00000116279
Gene: ENSMUSG00000000901
AA Change: P74S

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,123,920 (GRCm39)	V75A	probably benign	Het
Ace	G	C	11: 105,865,652 (GRCm39)	W628C	probably damaging	Het
Adh4	T	C	3: 138,127,996 (GRCm39)	S141P	probably benign	Het
Apob	T	C	12: 8,061,384 (GRCm39)	Y3256H	possibly damaging	Het
B3galnt1	G	T	3: 69,482,282 (GRCm39)	N326K	probably benign	Het
Bltp3a	T	G	17: 28,095,964 (GRCm39)		probably null	Het
Catsperb	T	C	12: 101,516,070 (GRCm39)	F569L	probably damaging	Het
Cecr2	A	G	6: 120,732,478 (GRCm39)	I225V	probably benign	Het
Cox5b	A	G	1: 36,731,510 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,834,332 (GRCm39)	D1953G	probably damaging	Het
Dnaaf5	C	T	5: 139,167,215 (GRCm39)	T707M	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Ebf1	G	A	11: 44,882,295 (GRCm39)	R409Q	probably damaging	Het
Eef2k	G	A	7: 120,484,645 (GRCm39)	A256T	probably damaging	Het
Eef2k	C	A	7: 120,484,646 (GRCm39)	A256D	probably damaging	Het
Evl	C	G	12: 108,647,781 (GRCm39)	T294S	probably benign	Het
Eya2	T	C	2: 165,573,548 (GRCm39)	Y288H	probably damaging	Het
Ezh2	A	T	6: 47,509,014 (GRCm39)		probably null	Het
Fam171a1	T	C	2: 3,226,426 (GRCm39)	Y395H	probably benign	Het
Gas2l3	C	A	10: 89,249,837 (GRCm39)	R427L	probably damaging	Het
Gli2	T	A	1: 118,783,233 (GRCm39)	I91F	probably damaging	Het
Gm4884	T	C	7: 40,692,318 (GRCm39)	S96P	probably damaging	Het
Gprc5d	T	A	6: 135,093,031 (GRCm39)	D292V	probably benign	Het
Herc1	A	G	9: 66,355,505 (GRCm39)	K2252R	probably benign	Het
Il1rl1	A	T	1: 40,489,285 (GRCm39)	M346L	probably benign	Het
Kcna5	A	T	6: 126,510,946 (GRCm39)	V394D	probably damaging	Het
Kcng4	A	T	8: 120,352,617 (GRCm39)	M431K	possibly damaging	Het
Kifbp	A	T	10: 62,414,020 (GRCm39)	V46E	probably damaging	Het
Large1	A	G	8: 73,774,937 (GRCm39)	F258L	possibly damaging	Het
Mapkbp1	T	A	2: 119,852,662 (GRCm39)	C1001S	probably damaging	Het
Micu1	A	G	10: 59,663,054 (GRCm39)	Q328R	probably benign	Het
Msh6	T	A	17: 88,287,716 (GRCm39)	F119I	possibly damaging	Het
Myo6	A	G	9: 80,149,531 (GRCm39)	E159G	probably damaging	Het
Negr1	T	A	3: 156,721,833 (GRCm39)	Y136N	probably damaging	Het
Nol9	T	A	4: 152,130,428 (GRCm39)	C321S	probably damaging	Het
Nos1	T	C	5: 118,043,378 (GRCm39)	F551S	probably benign	Het
Nup153	C	A	13: 46,837,629 (GRCm39)	G1198C	probably damaging	Het
Omd	T	C	13: 49,743,552 (GRCm39)	S201P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1e35	T	C	11: 73,797,452 (GRCm39)	I289V	probably damaging	Het
Or4c120	C	A	2: 89,000,744 (GRCm39)	V271F	probably benign	Het
Or51l14	A	G	7: 103,100,919 (GRCm39)	Y125C	probably damaging	Het
Or51l14	C	A	7: 103,100,920 (GRCm39)	Y125*	probably null	Het
Oxct1	G	T	15: 4,064,832 (GRCm39)	A57S	probably benign	Het
Pcdhga7	T	G	18: 37,850,433 (GRCm39)	S813R	probably damaging	Het
Pcmtd2	A	T	2: 181,496,787 (GRCm39)	I255F	possibly damaging	Het
Pdk1	T	G	2: 71,713,913 (GRCm39)	M186R	possibly damaging	Het
Pelp1	T	C	11: 70,285,925 (GRCm39)	T648A	probably damaging	Het
Phldb2	A	T	16: 45,628,621 (GRCm39)	S570R	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Ptprj	T	C	2: 90,299,992 (GRCm39)	T270A	possibly damaging	Het
Reln	C	T	5: 22,160,179 (GRCm39)	G2130D	probably damaging	Het
Rims1	A	T	1: 22,358,844 (GRCm39)	Y663*	probably null	Het
Rit2	T	C	18: 31,286,817 (GRCm39)	T123A	probably benign	Het
Rmdn2	A	T	17: 79,975,418 (GRCm39)	E302D	probably benign	Het
Ryr1	T	C	7: 28,801,283 (GRCm39)	E827G	possibly damaging	Het
Siglec1	C	T	2: 130,923,264 (GRCm39)	G494R	probably damaging	Het
Slc16a14	T	A	1: 84,890,318 (GRCm39)	Y329F	probably damaging	Het
Slc35d1	A	T	4: 103,071,978 (GRCm39)	L8Q	possibly damaging	Het
Smpdl3a	C	T	10: 57,677,163 (GRCm39)	S57L	possibly damaging	Het
Snx9	T	C	17: 5,978,528 (GRCm39)	V566A	probably damaging	Het
Spaca1	A	T	4: 34,029,095 (GRCm39)	I126N	probably damaging	Het
Spred1	T	G	2: 116,994,052 (GRCm39)	I94S	probably damaging	Het
Tardbp	T	C	4: 148,706,494 (GRCm39)	D105G	possibly damaging	Het
Tet2	T	C	3: 133,182,326 (GRCm39)	S1213G	probably benign	Het
Trak1	A	T	9: 121,196,121 (GRCm39)		probably benign	Het
Trem3	G	A	17: 48,556,756 (GRCm39)	V76M	possibly damaging	Het
Ttc13	G	T	8: 125,421,674 (GRCm39)	Y250*	probably null	Het
Ttll5	T	G	12: 85,969,819 (GRCm39)	S714R	possibly damaging	Het
Ube2l6	T	G	2: 84,633,220 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,803,679 (GRCm39)	S1090P	probably damaging	Het
Vezt	T	C	10: 93,806,372 (GRCm39)	T680A	probably benign	Het
Virma	A	G	4: 11,546,297 (GRCm39)	K1762E	probably damaging	Het
Vps53	A	G	11: 76,057,074 (GRCm39)	S57P	probably damaging	Het
Vwa7	G	T	17: 35,236,822 (GRCm39)	D130Y	probably damaging	Het
Vwa8	T	G	14: 79,302,342 (GRCm39)	F1004V	probably damaging	Het
Zfp35	A	T	18: 24,137,194 (GRCm39)	K513*	probably null	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,013,472 (GRCm39)		probably benign	Het
Zfp521	C	A	18: 13,978,505 (GRCm39)	C636F	probably 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
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
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'- GCATAACACTGATTGGCCAC -3'
(R):5'- GAGCAGATCCACAGTGACTG -3'

Sequencing Primer
(F):5'- ACTGATTGGCCACCAGGAC -3'
(R):5'- TCTCTGGCAGGTGCTCAGTAC -3'

Posted On

2016-06-21