Mutagenetix > Incidental Mutation

Incidental Mutation 'R4888:Mmp27'

377106

Institutional Source

Beutler Lab

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

MMRRC Submission

042493-MU

Accession Numbers

Essential gene?

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

Stock #

R4888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7571396-7581885 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7581368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 544 (H544L)

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: H518L

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

SMART Domains

Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
AA Change: H518L

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: H544L

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

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: H544L

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

unknown
Transcript: ENSMUST00000152878
AA Change: H462L

SMART Domains

Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323
AA Change: H462L

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

0.0946

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (150/151)

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931403M11Rik	C	A	14: 24,621,351		noncoding transcript	Het
4931408C20Rik	A	G	1: 26,683,547	Y851H	probably benign	Het
Abca7	A	G	10: 80,002,728	K612R	probably damaging	Het
Adamtsl3	T	C	7: 82,574,614	V275A	possibly damaging	Het
Afg3l1	G	A	8: 123,488,326		probably null	Het
Alcam	T	A	16: 52,268,813	H508L	probably benign	Het
Ankrd45	G	A	1: 161,155,372	R151H	probably damaging	Het
Aqr	G	A	2: 114,150,509	L264F	probably damaging	Het
Arfgef2	G	A	2: 166,835,613	A53T	probably damaging	Het
Arhgap30	A	G	1: 171,409,312	T1085A	probably benign	Het
Atp10a	T	C	7: 58,785,307	V314A	probably damaging	Het
Bdp1	T	C	13: 100,051,119	D1580G	probably benign	Het
Btbd17	T	A	11: 114,794,091	T41S	possibly damaging	Het
Cacna1c	T	C	6: 118,751,439	N378S	probably damaging	Het
Camsap1	G	T	2: 25,935,550	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,397,123		probably null	Het
Ccar1	A	G	10: 62,753,218	S829P	unknown	Het
Ccdc180	T	C	4: 45,909,308	L492P	probably damaging	Het
Ccser2	A	T	14: 36,940,386	N280K	probably damaging	Het
Cd37	T	C	7: 45,233,935	D271G	probably damaging	Het
Cdcp1	G	A	9: 123,182,129		probably benign	Het
Cep85	T	A	4: 134,164,751		probably benign	Het
Cfi	C	T	3: 129,873,077	P483L	probably damaging	Het
Csmd1	A	G	8: 15,895,674		probably benign	Het
Cytl1	G	T	5: 37,735,574	L9F	unknown	Het
Defb26	T	C	2: 152,508,165	E65G	possibly damaging	Het
Degs1	G	A	1: 182,276,805	T305I	probably damaging	Het
Dnttip2	T	G	3: 122,276,592	C485W	probably damaging	Het
Ecel1	G	A	1: 87,148,727		probably benign	Het
Edrf1	G	T	7: 133,658,610	M83I	probably damaging	Het
Elmo2	A	T	2: 165,295,289	C562S	probably benign	Het
Etl4	T	A	2: 20,340,111		probably null	Het
F2r	A	C	13: 95,604,397	V210G	probably damaging	Het
Fam171a1	T	A	2: 3,223,509	V179E	probably damaging	Het
Fmod	G	T	1: 134,040,239	V6F	possibly damaging	Het
Foxr2	A	G	X: 153,130,316	Q61R	probably damaging	Het
Gabra4	G	A	5: 71,572,203	H76Y	probably benign	Het
Gck	A	T	11: 5,909,150	M139K	possibly damaging	Het
Gif	A	G	19: 11,752,219	T181A	probably benign	Het
Gm10192	C	G	4: 97,183,108	S20T	probably null	Het
Gm13088	A	G	4: 143,654,401	S351P	probably benign	Het
Gm44501	T	C	17: 40,576,624	L11P	unknown	Het
Gm572	T	C	4: 148,666,845		probably null	Het
Gm996	G	A	2: 25,579,747	R51C	possibly damaging	Het
Gnas	A	G	2: 174,298,089	K17R	possibly damaging	Het
Grm2	T	A	9: 106,650,666	S340C	probably damaging	Het
Gsc	T	A	12: 104,472,015	H198L	probably damaging	Het
H2-Q3	A	T	17: 35,359,448		noncoding transcript	Het
Hist1h4a	T	C	13: 23,760,952	D69G	probably damaging	Het
Hivep3	A	G	4: 120,122,934	E1723G	probably damaging	Het
Hk3	A	T	13: 55,006,592	L757Q	probably damaging	Het
Homer2	A	T	7: 81,649,563	D51E	probably benign	Het
Ier3ip1	T	A	18: 76,939,531		probably benign	Het
Itch	T	A	2: 155,217,977		probably null	Het
Kalrn	T	A	16: 34,171,330	Q974L	probably damaging	Het
Kirrel3	G	T	9: 35,013,305	G296W	probably damaging	Het
Klhl17	A	G	4: 156,230,625	V525A	probably benign	Het
Klhl9	T	C	4: 88,721,945	K20E	probably benign	Het
Kmt2a	G	T	9: 44,821,680		probably benign	Het
Krt17	C	A	11: 100,256,479	V409L	probably benign	Het
Lmx1b	T	C	2: 33,564,790	N322S	probably benign	Het
Lrrc63	G	C	14: 75,125,966	P242A	probably benign	Het
Ltk	T	C	2: 119,753,227	N256D	probably damaging	Het
Map3k19	T	A	1: 127,817,733	E1328V	probably damaging	Het
Map4k2	C	T	19: 6,344,003	A280V	probably benign	Het
Mettl11b	A	T	1: 163,703,064	C269S	probably benign	Het
Micall1	C	T	15: 79,131,848	R802*	probably null	Het
Mmp14	A	G	14: 54,436,205	R109G	probably damaging	Het
Mpeg1	A	G	19: 12,463,070	T631A	probably damaging	Het
Mpnd	A	G	17: 56,011,641	M217V	probably benign	Het
Mrc2	T	C	11: 105,341,208	V862A	probably damaging	Het
Mug2	T	A	6: 122,081,195	S1239T	probably damaging	Het
Myb	T	A	10: 21,126,238	M616L	probably benign	Het
Myo18b	A	T	5: 112,874,480		probably benign	Het
Myo1c	C	A	11: 75,669,227	T703N	probably damaging	Het
Myt1l	T	G	12: 29,886,139	C909G	unknown	Het
Nbea	T	C	3: 56,005,355	S1004G	possibly damaging	Het
Neb	T	C	2: 52,296,307	N918D	probably benign	Het
Nrtn	T	C	17: 56,751,636	T122A	probably damaging	Het
Nsd3	A	T	8: 25,698,911	S1042C	probably damaging	Het
Nvl	A	G	1: 181,117,626	L461S	probably damaging	Het
Olfr1339	A	C	4: 118,734,688	H53P	probably benign	Het
Olfr1346	A	T	7: 6,474,613	I168F	probably damaging	Het
Olfr1425	C	G	19: 12,074,315	G106R	probably damaging	Het
Olfr368	T	G	2: 37,332,589	F281V	probably damaging	Het
Olfr677	A	G	7: 105,056,482	T79A	possibly damaging	Het
Olfr786	A	C	10: 129,437,379	D189A	possibly damaging	Het
Olfr90	G	A	17: 37,085,451	T238I	probably damaging	Het
Onecut2	A	T	18: 64,340,927	H183L	possibly damaging	Het
Pcdhb21	G	T	18: 37,515,077	V420F	possibly damaging	Het
Pcdhb9	G	A	18: 37,403,233	G760D	probably benign	Het
Pglyrp2	G	A	17: 32,418,797	P86S	probably benign	Het
Phyhip	T	A	14: 70,467,325	V328E	probably damaging	Het
Pitpnb	A	T	5: 111,382,996	K218N	possibly damaging	Het
Pitrm1	A	G	13: 6,578,560	D963G	probably damaging	Het
Pmfbp1	A	G	8: 109,532,160	Y699C	probably damaging	Het
Pmpcb	T	A	5: 21,740,662		probably benign	Het
Polg	A	T	7: 79,464,605	W203R	probably damaging	Het
Prss41	A	T	17: 23,837,003	M252K	probably benign	Het
Prss46	A	T	9: 110,844,550	M1L	possibly damaging	Het
Rimklb	T	C	6: 122,464,092		probably null	Het
Rngtt	T	C	4: 33,500,335	I556T	unknown	Het
Rock1	A	C	18: 10,122,698	D374E	probably benign	Het
Rspry1	C	A	8: 94,658,789	H450N	probably benign	Het
Rusc2	T	C	4: 43,423,942	V1032A	probably damaging	Het
Sacs	A	G	14: 61,212,198	R3898G	probably damaging	Het
Scnn1b	A	T	7: 121,902,887	H256L	probably benign	Het
Sh3gl2	T	A	4: 85,379,257	H157Q	probably benign	Het
Sipa1l1	C	A	12: 82,342,333	S444R	probably damaging	Het
Sntg1	T	A	1: 8,363,594	I478F	probably damaging	Het
Sptb	G	T	12: 76,609,037	L1424M	probably benign	Het
Sry	T	A	Y: 2,663,105	H185L	unknown	Het
Stox2	T	G	8: 47,203,163	T93P	probably damaging	Het
Tatdn2	T	A	6: 113,704,605	F472Y	possibly damaging	Het
Tefm	A	T	11: 80,140,359	V17D	possibly damaging	Het
Tekt2	G	T	4: 126,324,667	T70N	probably benign	Het
Ticam1	T	C	17: 56,271,642	D151G	probably damaging	Het
Tmem2	T	C	19: 21,856,164	V1322A	probably benign	Het
Tmem63c	A	G	12: 87,089,365	E785G	probably damaging	Het
Tnmd	A	T	X: 133,864,802	N219I	probably benign	Het
Ttc14	T	A	3: 33,806,875	L407*	probably null	Het
Ttll7	T	C	3: 146,894,177	M1T	probably null	Het
Ttn	T	A	2: 76,916,491		probably null	Het
Uchl1	T	C	5: 66,676,437	M12T	probably benign	Het
Uggt2	A	T	14: 119,077,650		probably null	Het
Uggt2	T	C	14: 119,049,253	T224A	probably damaging	Het
Umodl1	A	G	17: 30,999,201	E1254G	probably damaging	Het
Unc5d	A	G	8: 28,666,899	F773L	probably benign	Het
Unc80	C	A	1: 66,644,447	P2216Q	probably damaging	Het
Usp40	T	A	1: 87,986,201		probably null	Het
Vmn1r117	A	T	7: 20,883,496	M209K	probably damaging	Het
Vmn2r44	A	T	7: 8,377,986	W303R	probably benign	Het
Wnk2	G	A	13: 49,071,002	R268C	probably damaging	Het
Wnt2	T	C	6: 18,023,126	K175E	possibly damaging	Het
Xkr6	T	C	14: 63,819,504	V288A	unknown	Het
Zfp125	A	G	12: 20,900,458		noncoding transcript	Het
Zfp512b	A	C	2: 181,587,063	V703G	probably damaging	Het
Zglp1	A	T	9: 21,062,661	I243N	probably benign	Het
Zgpat	T	C	2: 181,378,858	S275P	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
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'- GGCAATTTGAATATGACATGAAGGC -3'
(R):5'- AACTTGATGCTAAAGAATTGGGCTC -3'

Sequencing Primer
(F):5'- GGCGAAAAATATCACCCAAGTG -3'
(R):5'- AGAGGGCATCAGATTTCCCTG -3'

Posted On

2016-03-17