Mutagenetix > Incidental Mutation

Incidental Mutation 'R1191:Mmp27'

100813

Institutional Source

Beutler Lab

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

MMRRC Submission

039263-MU

Accession Numbers

Essential gene?

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

Stock #

R1191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7571396-7581885 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to T at 7579066 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

D3YV89

Predicted Effect

probably null
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 null
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 null
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 null
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

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.1%
20x: 87.9%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd27	T	C	7: 35,602,487	F144L	probably damaging	Het
C8b	C	T	4: 104,793,323	P377S	probably damaging	Het
Cfi	C	A	3: 129,868,527	T385N	probably benign	Het
Col15a1	G	T	4: 47,254,083	G300*	probably null	Het
Crlf1	G	A	8: 70,498,828	C119Y	probably damaging	Het
Dcaf4	A	T	12: 83,535,967	S279C	probably damaging	Het
Gde1	A	T	7: 118,705,441	H70Q	probably damaging	Het
Gpt2	A	T	8: 85,509,272	N179I	probably damaging	Het
Grik5	G	A	7: 25,058,325	Q410*	probably null	Het
Hspa2	C	T	12: 76,405,881	R450W	probably damaging	Het
Idh3b	A	T	2: 130,281,890	M118K	probably benign	Het
Ighv5-21	T	C	12: 114,322,803		probably benign	Het
Il12rb2	C	T	6: 67,298,216	V642M	possibly damaging	Het
Iqcg	A	G	16: 33,049,943	V60A	probably benign	Het
Irx6	T	A	8: 92,676,952	Y102N	probably damaging	Het
Itgb6	C	T	2: 60,653,137		probably null	Het
Olfr143	G	T	9: 38,254,205	V263F	probably damaging	Het
Olfr175-ps1	T	A	16: 58,824,559	Y50F	probably benign	Het
Olfr452	C	A	6: 42,790,517	H159Q	probably benign	Het
Olfr50	T	A	2: 36,793,338	M34K	probably damaging	Het
Olfr976	A	T	9: 39,956,968	M1K	probably null	Het
Pcdhb16	A	G	18: 37,479,873	R629G	probably damaging	Het
Pde3b	A	T	7: 114,519,575	M650L	probably benign	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Skint3	T	A	4: 112,235,742	M1K	probably null	Het
Strn	T	C	17: 78,692,426	Q127R	possibly damaging	Het
Taar2	T	G	10: 23,941,029	W156G	probably damaging	Het
Trpt1	G	T	19: 6,996,770	M45I	probably benign	Het
Ubap2l	T	C	3: 90,023,575	T357A	probably damaging	Het
Ubr3	C	T	2: 70,021,181	R1831*	probably null	Het
Unc79	T	A	12: 103,047,012	Y287*	probably null	Het
Utrn	T	A	10: 12,634,033	K2398N	probably benign	Het
Vav2	A	T	2: 27,292,780		probably null	Het
Vps9d1	A	T	8: 123,247,967	H249Q	possibly damaging	Het
Vwf	T	A	6: 125,599,252	C432S	probably damaging	Het
Zfp369	T	A	13: 65,291,962	Y153*	probably null	Het
Zfp760	C	T	17: 21,723,305	P487L	probably damaging	Het
Zswim2	A	C	2: 83,923,695	V207G	possibly 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
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
R0715:Mmp27	UTSW	9	7581155	splice site	probably benign
R0826:Mmp27	UTSW	9	7579009	missense	probably damaging	1.00
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'- TCTTCCTCCCTGTAAGACACAGAGC -3'
(R):5'- AGATGCCACCGTACCAAACTTTGAC -3'

Sequencing Primer
(F):5'- AGACATCTGAAGAGATCCCTTTC -3'
(R):5'- GCCACAGCTTCTCTCAGAGTAG -3'

Posted On

2014-01-15