Mutagenetix > Incidental Mutation

Incidental Mutation 'R8537:Mmp27'

659287

Institutional Source

Beutler Lab

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

MMRRC Submission

067891-MU

Accession Numbers

Essential gene?

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

Stock #

R8537 (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 7579775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 443 (M443V)

Ref Sequence

ENSEMBL: ENSMUSP00000117469 (fasta)

Gene Model

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

AlphaFold

D3YV89

Predicted Effect

probably benign
Transcript: ENSMUST00000120900
AA Change: M417V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
AA Change: M417V

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: M443V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: M443V

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

SMART Domains

Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323
AA Change: M361V

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: 99.7%
20x: 99.0%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,190,550	E579V	probably damaging	Het
Adgrv1	T	A	13: 81,536,372	D1790V	probably damaging	Het
Avl9	T	A	6: 56,728,659	Y175*	probably null	Het
Bmp2	A	T	2: 133,561,282	D251V	probably damaging	Het
Camsap2	T	A	1: 136,277,205	K1191N	probably damaging	Het
Ccdc102a	A	C	8: 94,906,056	F431C	probably benign	Het
Ccdc186	T	C	19: 56,810,245	I270M	probably damaging	Het
Copb2	A	G	9: 98,587,619	Q851R	probably null	Het
Cyp11b2	C	T	15: 74,856,167	R22K	probably benign	Het
Ddx50	A	G	10: 62,642,849	F186S	probably damaging	Het
Dhx38	T	C	8: 109,553,380	Y926C	probably damaging	Het
Dmrt2	T	C	19: 25,673,936	M162T	possibly damaging	Het
Dnah10	G	T	5: 124,816,100	G3309V	probably damaging	Het
Dnajb2	T	C	1: 75,239,598	F107S	probably damaging	Het
Dock8	T	A	19: 25,130,506	S867T	probably benign	Het
Eif2ak1	C	A	5: 143,899,069	T526K	probably damaging	Het
Gm30302	A	G	13: 49,786,632	V534A	possibly damaging	Het
Gnas	T	C	2: 174,298,601	S188P	possibly damaging	Het
Gpam	T	C	19: 55,096,239	D36G	probably benign	Het
Gucy2e	C	A	11: 69,236,353	R98L	probably benign	Het
Hmcn2	C	A	2: 31,391,076	L1867I	probably benign	Het
Hnrnpu	T	C	1: 178,333,634		probably benign	Het
Icos	A	G	1: 60,993,942	D100G	probably damaging	Het
Ifi203	A	T	1: 173,928,906		probably benign	Het
Ift46	T	A	9: 44,783,983	L92Q	probably damaging	Het
Kcnip2	C	T	19: 45,815,730		probably null	Het
Lgr5	T	C	10: 115,452,402	Y779C	probably damaging	Het
Ltk	G	T	2: 119,758,107	P287Q	probably benign	Het
Mapk8ip3	A	T	17: 24,901,678	C852*	probably null	Het
Muc6	T	C	7: 141,647,917	D769G	probably benign	Het
Myo7b	T	C	18: 31,977,089	I1107V	probably benign	Het
Nebl	T	A	2: 17,350,709	H211L	probably benign	Het
Oaz3	T	A	3: 94,436,435	K40N	probably damaging	Het
Olfr1111	T	A	2: 87,150,038	T208S	probably benign	Het
Olfr860	T	A	9: 19,846,552	E22D	probably damaging	Het
Osbpl10	G	T	9: 115,229,909	A718S	probably benign	Het
Ppp3ca	T	A	3: 136,797,858	I64K	possibly damaging	Het
Prlr	T	C	15: 10,314,180		probably benign	Het
Rab3ip	A	G	10: 116,910,154	I424T	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,914		probably benign	Het
Sec62	G	T	3: 30,818,812	R348L	unknown	Het
Sema5b	C	T	16: 35,651,609	A479V	possibly damaging	Het
Shank3	T	C	15: 89,532,215	I222T	probably damaging	Het
Sp1	C	T	15: 102,408,529	T154I	possibly damaging	Het
Srek1	A	G	13: 103,752,449		probably benign	Het
Tmem129	A	G	5: 33,655,576	S143P	possibly damaging	Het
Tmem202	A	T	9: 59,519,646	C194S	probably benign	Het
Tmprss15	A	T	16: 79,087,515	I93K	probably damaging	Het
Ttn	A	G	2: 76,776,309	Y16340H	probably damaging	Het
Uck1	C	A	2: 32,260,141		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
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
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'- TCAAAGTTTGGTACGGTGGC -3'
(R):5'- CACTAAAATTGAACGTTTGCCC -3'

Sequencing Primer
(F):5'- TACGGTGGCATCTGAGCATAC -3'
(R):5'- AAATTGAACGTTTGCCCTTTGTGC -3'

Posted On

2021-01-18