Mutagenetix > Incidental Mutation

Incidental Mutation 'R8185:Mmp27'

634830

Institutional Source

Beutler Lab

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

MMRRC Submission

067608-MU

Accession Numbers

Essential gene?

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

Stock #

R8185 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7571396-7581885 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7573491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 195 (T195A)

Ref Sequence

ENSEMBL: ENSMUSP00000117469 (fasta)

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: T195A

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: T195A

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	C	5: 87,972,152	V256A	possibly damaging	Het
Ackr3	G	A	1: 90,213,944	V42M	probably benign	Het
C9	T	A	15: 6,491,397	I441N	probably damaging	Het
Cd44	G	A	2: 102,824,320	A667V	possibly damaging	Het
Cdc23	T	C	18: 34,641,144	N322D	probably benign	Het
Chrm2	A	G	6: 36,523,889	N227S	probably benign	Het
Cnot1	C	T	8: 95,761,351	R559Q	probably damaging	Het
Cntnap4	A	G	8: 112,665,265	N121D	probably damaging	Het
Cog7	A	G	7: 121,977,746	L63P	probably damaging	Het
Cpne7	C	T	8: 123,127,429	A285V	probably benign	Het
Cpsf7	C	T	19: 10,536,860	R343*	probably null	Het
Cubn	T	G	2: 13,294,318	K3181N	probably benign	Het
Dsg1a	C	T	18: 20,340,612	T914I	probably damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Ebf3	A	T	7: 137,225,878	C255S	possibly damaging	Het
Fasn	A	T	11: 120,812,143	I1658N	probably benign	Het
Fcgr2b	A	G	1: 170,966,451	V210A	probably damaging	Het
Flvcr1	G	A	1: 191,015,484	P305S	probably damaging	Het
Frem3	G	T	8: 80,612,304	E409*	probably null	Het
Gabrr2	T	A	4: 33,082,330	D213E	probably damaging	Het
Ggt1	T	A	10: 75,585,206	D418E	possibly damaging	Het
Gm2046	T	A	12: 87,973,663	W46R	noncoding transcript	Het
Immt	C	T	6: 71,872,851	Q530*	probably null	Het
Ints10	T	C	8: 68,796,718	F67L	possibly damaging	Het
Kdm4c	C	T	4: 74,373,584	H813Y	probably benign	Het
Klhl5	T	A	5: 65,156,128	M395K	probably damaging	Het
Klk11	T	C	7: 43,776,908	I49T	probably damaging	Het
Lmln	A	T	16: 33,089,320	N357I	probably damaging	Het
Lpar1	A	T	4: 58,486,509	M254K	probably damaging	Het
Macc1	T	C	12: 119,447,159	V554A	probably damaging	Het
Melk	G	A	4: 44,360,965	V582I	probably benign	Het
Nedd4l	T	C	18: 65,209,698	F781L	probably damaging	Het
Nvl	G	A	1: 181,144,174		probably benign	Het
Nxpe4	G	A	9: 48,393,209	D199N	possibly damaging	Het
Olfr145	A	C	9: 37,898,235	Y277S	probably damaging	Het
Olfr267	T	C	4: 58,785,542	Y60C	probably damaging	Het
Ovol1	T	C	19: 5,551,514	D160G	probably damaging	Het
Ppp1r13l	C	T	7: 19,372,938	P453S	probably benign	Het
Ppp1r37	C	T	7: 19,532,948	G373S	probably damaging	Het
Slc7a9	T	C	7: 35,452,417	S46P	probably damaging	Het
Sntn	A	G	14: 13,679,014	I63V	probably benign	Het
Syde2	T	C	3: 145,988,912	V305A	probably benign	Het
Tpp1	A	T	7: 105,749,223		probably null	Het
Vmn1r179	A	T	7: 23,928,738	N118I	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
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
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'- ACCAGCTGATGTGGATGAGG -3'
(R):5'- CTGTACAGTGCTTCTTTCTAGATG -3'

Sequencing Primer
(F):5'- GATGAGGCTATTCAGAAAGCTCTAC -3'
(R):5'- TCTCACAGTGAAAATTAGTCTCACC -3'

Posted On

2020-07-13