Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01134:Mmp27'

51982

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01134

Quality Score

Status

Chromosome

Chromosomal Location

7571396-7581885 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 7573297 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 130 (M130R)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018765] [ENSMUST00000120900] [ENSMUST00000151853]

AlphaFold

D3YV89

Predicted Effect

probably benign
Transcript: ENSMUST00000018765

SMART Domains

Protein: ENSMUSP00000018765
Gene: ENSMUSG00000005800

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:PG_binding_1	28	86	2e-13	PFAM
ZnMc	104	263	4.38e-60	SMART
HX	285	327	7.51e-10	SMART
HX	329	372	2.16e-10	SMART
HX	377	422	5.91e-17	SMART
HX	424	464	2.99e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093896
AA Change: M130R

PolyPhen 2 Score 0.060 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091423
Gene: ENSMUSG00000070323
AA Change: M130R

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	40	100	1.4e-13	PFAM
ZnMc	116	303	1.81e-43	SMART
HX	326	368	5.97e-4	SMART
HX	370	412	1.1e-7	SMART
HX	417	464	1.09e-6	SMART
HX	466	506	3.2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120900
AA Change: M130R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
AA Change: M130R

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	40	100	1e-13	PFAM
ZnMc	116	277	1.76e-50	SMART
HX	300	342	5.97e-4	SMART
HX	344	386	1.1e-7	SMART
HX	391	438	1.09e-6	SMART
HX	440	480	3.2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151853
AA Change: M130R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: M130R

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	40	100	1.1e-13	PFAM
ZnMc	116	303	1.81e-43	SMART
HX	326	368	5.97e-4	SMART
HX	370	412	1.1e-7	SMART
HX	417	464	1.09e-6	SMART
HX	466	506	3.2e-4	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000152878
AA Change: M128R

SMART Domains

Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323
AA Change: M128R

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	39	99	1.1e-13	PFAM
ZnMc	115	295	1.41e-13	SMART
HX	245	287	5.97e-4	SMART
HX	289	331	1.1e-7	SMART
HX	336	383	1.09e-6	SMART
HX	385	425	3.2e-4	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Acaca	T	G	11: 84,251,279	H637Q	probably benign	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Akap6	C	A	12: 52,937,217	A848E	probably damaging	Het
Cxxc4	A	G	3: 134,240,659	I334V	probably null	Het
Cyp2b13	T	A	7: 26,081,700	I179N	probably damaging	Het
Cyp2d40	C	A	15: 82,760,901	A183S	unknown	Het
Cyp2g1	A	G	7: 26,809,831	N110S	probably benign	Het
F5	A	T	1: 164,191,979	R674S	possibly damaging	Het
Fnip2	G	T	3: 79,512,503	Y155*	probably null	Het
Fut9	G	T	4: 25,620,446	Q123K	probably benign	Het
Gda	A	G	19: 21,417,065	S143P	probably damaging	Het
Gpr162	T	C	6: 124,858,857		probably null	Het
Hsf2bp	A	G	17: 31,987,404	L251S	probably damaging	Het
Hsh2d	A	T	8: 72,193,531	D24V	probably damaging	Het
Htr1f	T	A	16: 64,926,138	T264S	probably benign	Het
Med12l	G	A	3: 59,042,275	E151K	possibly damaging	Het
Mgat3	C	A	15: 80,212,176	N401K	probably benign	Het
Mroh2b	T	A	15: 4,915,152	S412T	probably benign	Het
Mrps9	A	G	1: 42,903,397	I338M	probably damaging	Het
Mtmr4	C	T	11: 87,604,067	T395M	probably damaging	Het
Nlrp9b	A	G	7: 20,023,187	I116M	probably benign	Het
Nqo1	T	C	8: 107,388,955	D230G	probably benign	Het
Pcnx2	C	T	8: 125,863,150	V795I	probably benign	Het
Pde8a	G	A	7: 81,319,078	R449Q	possibly damaging	Het
Scn9a	A	G	2: 66,504,968	Y1226H	probably damaging	Het
Sema3e	A	G	5: 14,252,770	R770G	probably damaging	Het
Smr2	T	C	5: 88,108,519	S19P	probably damaging	Het
Trank1	T	C	9: 111,391,781	S2529P	probably benign	Het
Uspl1	T	A	5: 149,204,293	F367L	probably damaging	Het
Vps41	A	G	13: 18,866,150	S838G	probably benign	Het
Ythdf2	A	T	4: 132,205,478	F124I	probably damaging	Het

Other mutations in Mmp27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Mmp27	APN	9	7573504	splice site	probably benign
IGL00656:Mmp27	APN	9	7581382	missense	possibly damaging	0.80
IGL00937:Mmp27	APN	9	7578899	critical splice acceptor site	probably benign	0.00
IGL01101:Mmp27	APN	9	7573415	missense	probably damaging	1.00
IGL01631:Mmp27	APN	9	7573288	critical splice acceptor site	probably benign	0.00
IGL02967:Mmp27	APN	9	7571590	missense	probably benign	0.03
IGL03024:Mmp27	APN	9	7581376	missense	probably benign	0.17
R0662:Mmp27	UTSW	9	7577650	missense	probably benign	0.00
R0715:Mmp27	UTSW	9	7581155	splice site	probably benign
R0826:Mmp27	UTSW	9	7579009	missense	probably damaging	1.00
R1191:Mmp27	UTSW	9	7579066	splice site	probably null
R1793:Mmp27	UTSW	9	7571458	start codon destroyed	probably null	0.00
R1983:Mmp27	UTSW	9	7578897	splice site	probably null
R2074:Mmp27	UTSW	9	7577739	missense	possibly damaging	0.50
R2172:Mmp27	UTSW	9	7577378	nonsense	probably null
R2445:Mmp27	UTSW	9	7581181	missense	probably benign	0.12
R2961:Mmp27	UTSW	9	7573602	missense	probably damaging	1.00
R4825:Mmp27	UTSW	9	7581194	missense	probably damaging	1.00
R4888:Mmp27	UTSW	9	7581368	missense	probably benign	0.00
R4938:Mmp27	UTSW	9	7578982	missense	probably damaging	0.97
R5095:Mmp27	UTSW	9	7572158	missense	probably damaging	1.00
R5095:Mmp27	UTSW	9	7579000	missense	probably damaging	1.00
R5121:Mmp27	UTSW	9	7581368	missense	probably benign	0.00
R5446:Mmp27	UTSW	9	7573515	splice site	probably benign
R5485:Mmp27	UTSW	9	7573362	missense	probably damaging	1.00
R5516:Mmp27	UTSW	9	7579062	missense	probably null	1.00
R6682:Mmp27	UTSW	9	7573605	missense	probably benign	0.02
R6712:Mmp27	UTSW	9	7572176	missense	probably damaging	1.00
R6737:Mmp27	UTSW	9	7571954	missense	possibly damaging	0.78
R7282:Mmp27	UTSW	9	7578230	missense	probably damaging	0.98
R7368:Mmp27	UTSW	9	7577317	missense	probably damaging	1.00
R7689:Mmp27	UTSW	9	7579001	missense	probably damaging	1.00
R8006:Mmp27	UTSW	9	7578984	missense	probably damaging	0.97
R8185:Mmp27	UTSW	9	7573491	missense	unknown
R8537:Mmp27	UTSW	9	7579775	missense	probably benign	0.00
R9039:Mmp27	UTSW	9	7581249	missense	probably benign	0.01
R9087:Mmp27	UTSW	9	7579857	missense	probably damaging	1.00
R9188:Mmp27	UTSW	9	7579791	missense	possibly damaging	0.55
R9280:Mmp27	UTSW	9	7579811	missense	probably benign	0.09
R9367:Mmp27	UTSW	9	7573549	missense	probably damaging	1.00
X0021:Mmp27	UTSW	9	7573298	missense	probably damaging	1.00

Posted On

2013-06-21