Mutagenetix > Incidental Mutation

Incidental Mutation 'R1857:Mmp11'

206249

Institutional Source

Beutler Lab

Gene Symbol

Mmp11

Ensembl Gene

ENSMUSG00000000901

Gene Name

matrix metallopeptidase 11

Synonyms

stromelysin 3, ST3, Stmy3

MMRRC Submission

039881-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75759056-75768336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75764191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 91 (D91E)

Ref Sequence

ENSEMBL: ENSMUSP00000112940 (fasta)

Gene Model

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

AlphaFold

Q02853

Predicted Effect

probably benign
Transcript: ENSMUST00000000924
AA Change: D91E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000000924
Gene: ENSMUSG00000000901
AA Change: D91E

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: D91E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112940
Gene: ENSMUSG00000000901
AA Change: D91E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219839

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.2%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,766,789 (GRCm39)	I57N	probably damaging	Het
Abca15	T	C	7: 119,960,592 (GRCm39)	S685P	probably damaging	Het
Adpgk	G	T	9: 59,222,248 (GRCm39)	V392L	probably benign	Het
Akap14	C	T	X: 36,420,779 (GRCm39)	A476T	probably damaging	Het
Amdhd1	A	T	10: 93,367,416 (GRCm39)	I246N	probably damaging	Het
Amhr2	T	A	15: 102,355,212 (GRCm39)	L165*	probably null	Het
Atr	T	A	9: 95,747,150 (GRCm39)	I144N	probably damaging	Het
Ccdc33	T	C	9: 57,939,991 (GRCm39)	N750S	possibly damaging	Het
Cdh23	A	G	10: 60,159,076 (GRCm39)	I2233T	probably damaging	Het
Cfap46	C	A	7: 139,233,324 (GRCm39)	V774F	probably damaging	Het
Cfap69	G	T	5: 5,632,518 (GRCm39)	T362K	possibly damaging	Het
Cnih3	A	G	1: 181,277,638 (GRCm39)	H101R	probably damaging	Het
Crebrf	T	A	17: 26,961,937 (GRCm39)	Y345N	probably benign	Het
Cyb5r4	C	T	9: 86,923,332 (GRCm39)	S185L	probably benign	Het
Cyp2j5	T	C	4: 96,547,723 (GRCm39)	E173G	possibly damaging	Het
Cyp3a41b	T	A	5: 145,503,660 (GRCm39)	I296F	probably benign	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Dync1h1	T	A	12: 110,629,059 (GRCm39)	F4205L	probably damaging	Het
Eif3a	A	C	19: 60,770,635 (GRCm39)	L71V	probably damaging	Het
Eif3h	T	C	15: 51,662,674 (GRCm39)	Y124C	probably damaging	Het
Eif4g3	A	T	4: 137,903,187 (GRCm39)	Q1169L	possibly damaging	Het
Endod1	T	A	9: 14,268,405 (GRCm39)	H360L	probably benign	Het
Fbxo38	A	G	18: 62,648,489 (GRCm39)	I683T	probably damaging	Het
Frem2	T	A	3: 53,562,294 (GRCm39)	T738S	probably benign	Het
Gm1527	A	T	3: 28,957,539 (GRCm39)	T148S	probably damaging	Het
Gm4894	T	C	9: 49,189,976 (GRCm39)	S84P	unknown	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il1f10	A	T	2: 24,182,817 (GRCm39)	D31V	possibly damaging	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Meiob	T	C	17: 25,042,544 (GRCm39)	V124A	probably damaging	Het
Mpped2	T	C	2: 106,613,989 (GRCm39)	Y108H	probably damaging	Het
Mroh9	A	G	1: 162,866,714 (GRCm39)	V674A	probably damaging	Het
Mtor	G	T	4: 148,565,336 (GRCm39)	Q1015H	probably damaging	Het
Mylk3	G	A	8: 86,055,223 (GRCm39)	T711I	probably damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Neurl4	G	T	11: 69,796,361 (GRCm39)	G435V	probably damaging	Het
Nipal2	A	G	15: 34,678,779 (GRCm39)	S21P	possibly damaging	Het
Nphp1	T	A	2: 127,612,296 (GRCm39)	D217V	probably benign	Het
Nphp3	T	C	9: 103,898,493 (GRCm39)	I432T	possibly damaging	Het
Oprd1	T	G	4: 131,840,992 (GRCm39)	D322A	probably damaging	Het
Or10ag2	T	C	2: 87,248,992 (GRCm39)	L198P	probably damaging	Het
Or2b28	A	G	13: 21,531,346 (GRCm39)	M83V	possibly damaging	Het
Or56a3b	T	G	7: 104,770,751 (GRCm39)	L29R	probably benign	Het
Pcdh10	C	A	3: 45,334,372 (GRCm39)	Q229K	possibly damaging	Het
Pdlim7	G	A	13: 55,653,858 (GRCm39)	T253M	probably damaging	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Pigc	T	G	1: 161,798,446 (GRCm39)	S143A	possibly damaging	Het
Pkd1l2	T	C	8: 117,767,408 (GRCm39)	D1294G	possibly damaging	Het
Ppp2r1a	T	C	17: 21,181,951 (GRCm39)	S490P	possibly damaging	Het
Ppp2r3d	T	A	9: 101,090,092 (GRCm39)	N77I	probably damaging	Het
Pramel17	T	C	4: 101,692,770 (GRCm39)	Y410C	probably damaging	Het
Pramel29	C	T	4: 143,935,091 (GRCm39)	V217I	possibly damaging	Het
Prl7a2	A	T	13: 27,843,163 (GRCm39)	C213*	probably null	Het
Prpf8	T	A	11: 75,386,249 (GRCm39)		probably null	Het
Psmd7	A	T	8: 108,311,525 (GRCm39)	N109K	probably damaging	Het
Ptprn	T	C	1: 75,224,549 (GRCm39)	K936E	possibly damaging	Het
Ro60	T	C	1: 143,646,488 (GRCm39)	T86A	probably benign	Het
Ror1	A	T	4: 100,298,700 (GRCm39)	Q691L	probably damaging	Het
Sars2	A	G	7: 28,449,437 (GRCm39)	M322V	probably benign	Het
Scfd2	C	A	5: 74,372,962 (GRCm39)	E638*	probably null	Het
Scgb3a2	A	G	18: 43,899,900 (GRCm39)	T63A	probably benign	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Smarcd1	A	G	15: 99,607,295 (GRCm39)	K382E	probably damaging	Het
Sox5	T	A	6: 143,906,541 (GRCm39)	S305C	probably damaging	Het
Sp5	C	A	2: 70,307,213 (GRCm39)	H299Q	possibly damaging	Het
Stard13	T	C	5: 151,018,903 (GRCm39)	Y60C	probably damaging	Het
Tmprss6	A	G	15: 78,336,752 (GRCm39)	F383L	probably damaging	Het
Ttc23	T	C	7: 67,328,821 (GRCm39)		probably null	Het
Ugt2b34	T	C	5: 87,052,241 (GRCm39)	T252A	possibly damaging	Het
Vangl2	A	T	1: 171,837,464 (GRCm39)	L115Q	probably damaging	Het
Vmn1r42	A	G	6: 89,821,597 (GRCm39)	I324T	probably benign	Het
Vwa5b1	A	G	4: 138,296,413 (GRCm39)	F1205L	probably damaging	Het
Zfp951	G	C	5: 104,962,723 (GRCm39)	T281R	probably damaging	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	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
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'- TCTAGACTAAGGTTCCAAGTTCATGG -3'
(R):5'- TGTTTTCTTGCCCAGGAGAG -3'

Sequencing Primer
(F):5'- CCAAGTTCATGGATGGCTGG -3'
(R):5'- TTCTTGCCCAGGAGAGTCACC -3'

Posted On

2014-06-23