Mutagenetix > Incidental Mutation

Incidental Mutation 'R5446:Mmp27'

429078

Institutional Source

Beutler Lab

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

MMRRC Submission

043011-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7571396-7581885 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 7573515 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

D3YV89

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

unknown
Transcript: ENSMUST00000151853
AA Change: S203T

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: S203T

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	A	G	3: 89,740,179	N155S	probably damaging	Het
Ak9	A	G	10: 41,420,509	D1417G	possibly damaging	Het
Ankrd52	G	T	10: 128,388,561	C736F	probably damaging	Het
Arhgap15	T	A	2: 43,828,760	H85Q	probably benign	Het
BC051142	T	C	17: 34,440,893		probably null	Het
Bcat2	G	A	7: 45,585,145	R110H	possibly damaging	Het
Bscl2	A	G	19: 8,846,200	H4R	possibly damaging	Het
Cdh2	T	C	18: 16,646,627	I126V	probably damaging	Het
Cnbd2	A	C	2: 156,367,661	E508A	possibly damaging	Het
Crb2	T	C	2: 37,795,449	I1191T	probably benign	Het
Dync2h1	T	C	9: 7,144,217	T1075A	probably benign	Het
Edil3	A	C	13: 89,184,838	H371P	possibly damaging	Het
Gm5134	T	C	10: 75,995,836	S370P	probably damaging	Het
Gm9573	T	A	17: 35,622,503		probably benign	Het
Helz	T	C	11: 107,632,204	V737A	probably damaging	Het
Jade2	A	G	11: 51,816,959	V809A	probably benign	Het
Klhl23	T	A	2: 69,824,238	C151S	probably damaging	Het
Krt75	T	C	15: 101,571,067	D276G	probably null	Het
Lipm	C	T	19: 34,117,887	A294V	possibly damaging	Het
Med13l	A	G	5: 118,742,397	N1185D	possibly damaging	Het
Mroh2a	A	T	1: 88,254,965	N1205I	possibly damaging	Het
Npnt	A	G	3: 132,908,369	L191P	probably damaging	Het
Olfr1257	A	T	2: 89,881,549	H241L	probably damaging	Het
Paip2b	T	C	6: 83,814,862	I13V	probably benign	Het
Pcdhac2	T	A	18: 37,145,200	L411Q	probably damaging	Het
Plekhd1	A	G	12: 80,720,636	N266S	probably benign	Het
Pnpla8	A	G	12: 44,290,585	T454A	possibly damaging	Het
Prkcg	A	T	7: 3,330,264	Y675F	probably benign	Het
Pwwp2b	T	A	7: 139,255,150	I169N	probably damaging	Het
Rreb1	G	A	13: 37,898,497	R86H	possibly damaging	Het
Smok3c	A	C	5: 138,064,633	L127F	probably damaging	Het
St6galnac1	T	A	11: 116,766,269	M427L	probably benign	Het
Synm	T	C	7: 67,735,974	T205A	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn2r112	A	G	17: 22,618,250	Y564C	probably damaging	Het
Vmn2r90	A	C	17: 17,712,202	T124P	probably damaging	Het
Vpreb1	A	T	16: 16,868,690	V112E	probably damaging	Het
Zfp451	A	G	1: 33,777,528	L447S	probably damaging	Het
Zfp746	T	C	6: 48,064,173	T539A	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
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
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
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'- TGAGGCTATTCAGAAAGCTCTAC -3'
(R):5'- GGCAGATAACTGTACAGTGCTTC -3'

Sequencing Primer
(F):5'- CTACAAGTTTGGAGCAAGGTCACTC -3'
(R):5'- TGAGTGTCACCACCTAGA -3'

Posted On

2016-09-06