Mutagenetix > Incidental Mutation

Incidental Mutation 'R0715:Mmp27'

62821

Institutional Source

Beutler Lab

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

MMRRC Submission

038898-MU

Accession Numbers

Essential gene?

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

Stock #

R0715 (G1)

Quality Score

144

Status

Validated

Chromosome

Chromosomal Location

7571396-7581885 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 7581155 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

D3YV89

Predicted Effect

probably benign
Transcript: ENSMUST00000093896

SMART Domains

Protein: ENSMUSP00000091423
Gene: ENSMUSG00000070323

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

SMART Domains

Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323

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

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323

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

probably benign
Transcript: ENSMUST00000152878

SMART Domains

Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (61/62)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,223,092	C1933S	probably benign	Het
4930438A08Rik	A	G	11: 58,288,350	Y170C	probably damaging	Het
Adcy2	C	T	13: 68,888,042	V167I	probably benign	Het
Agl	A	G	3: 116,752,176	Y1324H	probably damaging	Het
Arhgef37	G	T	18: 61,508,789	Q170K	probably damaging	Het
Asah2	A	G	19: 32,016,776	S390P	probably damaging	Het
Atp8a1	A	T	5: 67,774,725	H240Q	probably benign	Het
Btbd16	T	A	7: 130,788,827	N151K	probably damaging	Het
Ccdc73	T	A	2: 104,973,154		probably benign	Het
Cecr2	G	T	6: 120,758,198	M21I	probably benign	Het
Ckap2l	T	C	2: 129,285,716	T181A	probably benign	Het
Col4a3	T	C	1: 82,652,158		probably benign	Het
Dnah9	A	G	11: 66,081,248		probably benign	Het
Fat3	T	C	9: 16,375,123	T1035A	probably benign	Het
Fzd8	A	G	18: 9,212,947	T10A	unknown	Het
Gm11639	T	C	11: 104,720,880	L516P	possibly damaging	Het
Gm9631	C	A	11: 121,942,502	C636F	probably damaging	Het
Gp1ba	A	G	11: 70,640,788		probably benign	Het
Gsk3a	A	G	7: 25,231,709	V277A	probably damaging	Het
H2-M1	T	A	17: 36,670,228		probably benign	Het
Hesx1	T	A	14: 27,000,852	W45R	probably damaging	Het
Il23r	T	A	6: 67,486,333	M59L	possibly damaging	Het
Insc	T	A	7: 114,845,077	V433E	probably benign	Het
Itga8	T	C	2: 12,191,242		probably benign	Het
Kif13a	T	A	13: 46,812,823	E436V	probably damaging	Het
Liph	A	G	16: 21,995,350	F7S	probably benign	Het
Lpar2	T	C	8: 69,824,173	V204A	probably damaging	Het
Lrfn4	T	A	19: 4,612,640		probably null	Het
Man2b2	A	T	5: 36,826,058	D182E	probably benign	Het
Mrm1	A	G	11: 84,814,813		probably benign	Het
Mtx3	T	C	13: 92,850,361	S271P	probably damaging	Het
Myh11	A	T	16: 14,226,616	M641K	possibly damaging	Het
Necab2	A	G	8: 119,470,931	D332G	probably damaging	Het
Ngfr	A	G	11: 95,574,239	I261T	possibly damaging	Het
Nrap	T	C	19: 56,357,325	E617G	probably damaging	Het
Obscn	G	T	11: 59,050,480	T4505K	probably benign	Het
Olfr884	G	T	9: 38,047,827	V202L	probably benign	Het
Olfr983	A	G	9: 40,092,511	Y148H	probably damaging	Het
Osbpl11	T	A	16: 33,241,730		probably benign	Het
Otof	A	G	5: 30,394,697	V301A	probably damaging	Het
Phf3	A	T	1: 30,811,838	L1145Q	probably damaging	Het
Phospho2	T	A	2: 69,796,196	I232N	possibly damaging	Het
Pomgnt2	T	A	9: 121,982,061	K551N	probably damaging	Het
Ptchd3	A	G	11: 121,831,158	T286A	possibly damaging	Het
Rnf213	A	G	11: 119,441,150	D2396G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,423,341	E836G	possibly damaging	Het
Simc1	G	T	13: 54,525,655	M605I	possibly damaging	Het
Slc12a3	G	A	8: 94,329,433	E66K	possibly damaging	Het
Spg11	T	C	2: 122,084,983	N1060S	probably benign	Het
Supt5	A	T	7: 28,329,037	W178R	probably damaging	Het
Tmem41a	G	T	16: 21,937,990	F126L	probably benign	Het
Ube2m	T	A	7: 13,037,626	Q35L	probably benign	Het
Usp33	A	G	3: 152,380,574	D658G	probably damaging	Het
Vmn2r12	A	T	5: 109,090,507	C456S	probably benign	Het
Vmn2r81	T	A	10: 79,268,600	D352E	probably damaging	Het
Zfp516	A	G	18: 82,987,263	Y764C	probably damaging	Het
Zswim7	A	G	11: 62,276,647		probably benign	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
IGL01134:Mmp27	APN	9	7573297	missense	probably benign	0.06
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
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

Predicted Primers

PCR Primer
(F):5'- GCCACACTCAGAGATGCTTTGACAC -3'
(R):5'- TCTTCCTGAGGCAGAGTTCAGGTT -3'

Sequencing Primer
(F):5'- CAGAGATGCTTTGACACTTGTGC -3'
(R):5'- TACTGAAAGTGAGCAAGCTTAACC -3'

Posted On

2013-07-30