Mutagenetix > Incidental Mutation

Incidental Mutation 'R1793:Mmp27'

201950

Institutional Source

Beutler Lab

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

MMRRC Submission

039823-MU

Accession Numbers

Essential gene?

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

Stock #

R1793 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7571397-7581886 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 7571459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000117469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018765] [ENSMUST00000120900] [ENSMUST00000151853]

AlphaFold

D3YV89

Predicted Effect

probably benign
Transcript: ENSMUST00000018765

SMART Domains

Protein: ENSMUSP00000018765
Gene: ENSMUSG00000005800

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:PG_binding_1	28	86	2e-13	PFAM
ZnMc	104	263	4.38e-60	SMART
HX	285	327	7.51e-10	SMART
HX	329	372	2.16e-10	SMART
HX	377	422	5.91e-17	SMART
HX	424	464	2.99e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000093896
AA Change: M1V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000091423
Gene: ENSMUSG00000070323
AA Change: M1V

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
AA Change: M1V

SMART Domains

Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
AA Change: M1V

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
AA Change: M1V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: M1V

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

100% (122/122)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,144 (GRCm39)	H571Q	probably damaging	Het
Abcf2	T	A	5: 24,773,774 (GRCm39)	M372L	probably benign	Het
Acaca	A	C	11: 84,206,795 (GRCm39)	T1552P	probably damaging	Het
Acaca	A	G	11: 84,229,219 (GRCm39)	D1682G	probably damaging	Het
Acvr1b	T	C	15: 101,091,906 (GRCm39)	V62A	probably benign	Het
Aimp1	C	T	3: 132,379,825 (GRCm39)	V97M	probably benign	Het
Aldh1l1	C	T	6: 90,554,813 (GRCm39)	T557I	possibly damaging	Het
Alpk1	T	C	3: 127,471,447 (GRCm39)	T1012A	probably damaging	Het
Amot	G	A	X: 144,233,585 (GRCm39)		probably benign	Het
Arap1	T	A	7: 101,037,829 (GRCm39)	H477Q	probably benign	Het
Arhgap18	T	A	10: 26,736,732 (GRCm39)		probably benign	Het
Arhgef10l	C	T	4: 140,242,684 (GRCm39)	V862M	probably damaging	Het
Arl4d	A	G	11: 101,557,554 (GRCm39)	I27V	probably benign	Het
Asb18	G	A	1: 89,942,277 (GRCm39)	P8L	probably damaging	Het
Ash1l	A	G	3: 88,977,616 (GRCm39)	H2682R	probably damaging	Het
Aspm	T	A	1: 139,385,079 (GRCm39)	V241E	probably benign	Het
Atf7ip	G	T	6: 136,586,217 (GRCm39)		probably benign	Het
AY358078	T	G	14: 52,042,051 (GRCm39)	M142R	unknown	Het
C3	T	A	17: 57,526,592 (GRCm39)	K796N	possibly damaging	Het
Ceacam16	T	C	7: 19,590,041 (GRCm39)	T301A	probably damaging	Het
Ceacam5	T	G	7: 17,481,320 (GRCm39)	Y356D	probably benign	Het
Cep192	C	T	18: 67,984,838 (GRCm39)	A1616V	possibly damaging	Het
Cfap91	T	A	16: 38,141,781 (GRCm39)	N384Y	possibly damaging	Het
Cherp	A	T	8: 73,216,994 (GRCm39)	H645Q	probably benign	Het
CK137956	T	C	4: 127,845,242 (GRCm39)	D167G	probably benign	Het
Clcn1	T	A	6: 42,275,860 (GRCm39)		probably null	Het
Cntn1	C	T	15: 92,189,552 (GRCm39)	T625I	possibly damaging	Het
Cpn2	T	A	16: 30,078,142 (GRCm39)	N520Y	probably damaging	Het
Crocc	G	A	4: 140,746,620 (GRCm39)	R1762W	probably damaging	Het
Cts3	C	A	13: 61,715,967 (GRCm39)	V100F	probably benign	Het
Ddx56	A	T	11: 6,216,934 (GRCm39)	V87D	probably damaging	Het
Dnah9	C	T	11: 66,010,420 (GRCm39)		probably null	Het
Dock1	T	A	7: 134,700,456 (GRCm39)		probably null	Het
Dst	T	A	1: 34,191,552 (GRCm39)	Y291*	probably null	Het
Eif4g3	T	C	4: 137,898,442 (GRCm39)	I1071T	probably damaging	Het
Fblim1	T	C	4: 141,322,549 (GRCm39)	Q78R	probably damaging	Het
Fcamr	C	T	1: 130,739,284 (GRCm39)	P195S	probably benign	Het
Fcho1	G	A	8: 72,161,666 (GRCm39)	Q835*	probably null	Het
Frem3	A	G	8: 81,339,741 (GRCm39)	N678S	probably benign	Het
Frk	G	A	10: 34,483,878 (GRCm39)	R413H	probably benign	Het
Gm10619	C	A	7: 73,459,758 (GRCm39)		noncoding transcript	Het
Gm12185	G	A	11: 48,806,583 (GRCm39)	R203*	probably null	Het
Gm12886	A	G	4: 121,280,174 (GRCm39)	V34A	probably benign	Het
Gna12	A	T	5: 140,746,707 (GRCm39)	I246N	probably damaging	Het
Gpm6a	T	C	8: 55,507,867 (GRCm39)	M201T	probably benign	Het
Gpsm2	T	G	3: 108,608,225 (GRCm39)	D220A	probably benign	Het
Grip2	C	G	6: 91,760,623 (GRCm39)	V325L	probably benign	Het
Grk5	C	A	19: 61,065,200 (GRCm39)	A288D	probably damaging	Het
Herpud2	G	A	9: 25,021,953 (GRCm39)	A231V	possibly damaging	Het
Hmcn1	T	C	1: 150,624,834 (GRCm39)	S1024G	probably benign	Het
Hp1bp3	A	G	4: 137,957,820 (GRCm39)	D295G	probably damaging	Het
Igsf21	T	C	4: 139,761,703 (GRCm39)	H325R	probably damaging	Het
Ing2	T	A	8: 48,122,364 (GRCm39)	L61F	probably damaging	Het
Jak3	T	C	8: 72,138,590 (GRCm39)		probably benign	Het
Kcnn3	T	A	3: 89,516,712 (GRCm39)	C374S	probably benign	Het
Klk1b22	A	G	7: 43,765,775 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,940,764 (GRCm39)	M630T	possibly damaging	Het
Lhx5	T	A	5: 120,572,725 (GRCm39)	C115S	probably damaging	Het
Lmcd1	C	A	6: 112,305,712 (GRCm39)	T271K	probably benign	Het
Lpar1	G	A	4: 58,486,798 (GRCm39)	R158*	probably null	Het
Lyst	T	A	13: 13,821,668 (GRCm39)	C1347*	probably null	Het
Map3k8	G	A	18: 4,332,389 (GRCm39)	Q441*	probably null	Het
Mboat1	T	C	13: 30,403,633 (GRCm39)	V144A	probably damaging	Het
Mcur1	C	T	13: 43,713,491 (GRCm39)	G38S	unknown	Het
Med13	T	A	11: 86,220,177 (GRCm39)	M276L	probably benign	Het
Mefv	A	G	16: 3,526,528 (GRCm39)	S699P	possibly damaging	Het
Mfsd4a	C	A	1: 131,987,077 (GRCm39)	A62S	probably damaging	Het
Myo1c	C	T	11: 75,548,415 (GRCm39)	T58I	probably damaging	Het
Myom3	A	T	4: 135,538,066 (GRCm39)	D1316V	probably benign	Het
Naa25	T	A	5: 121,555,478 (GRCm39)	C235S	possibly damaging	Het
Naa25	C	A	5: 121,558,656 (GRCm39)	R333S	probably damaging	Het
Nav3	G	A	10: 109,539,233 (GRCm39)	T2056I	probably benign	Het
Nol4	A	G	18: 22,902,878 (GRCm39)	Y378H	probably damaging	Het
Npat	G	A	9: 53,463,589 (GRCm39)	R124Q	probably damaging	Het
Npr3	T	A	15: 11,848,665 (GRCm39)	E434V	probably benign	Het
Nptx2	A	G	5: 144,485,130 (GRCm39)	T208A	probably benign	Het
Obscn	C	T	11: 58,968,606 (GRCm39)	V2798M	probably damaging	Het
Odad4	C	A	11: 100,460,679 (GRCm39)		probably null	Het
Or10j7	A	T	1: 173,011,976 (GRCm39)	H8Q	probably benign	Het
Or52r1	A	G	7: 102,537,250 (GRCm39)	Y37H	probably benign	Het
Or5b122	C	T	19: 13,562,779 (GRCm39)	T37I	probably benign	Het
Padi1	G	A	4: 140,541,967 (GRCm39)	P652S	probably damaging	Het
Pcdh1	G	T	18: 38,331,938 (GRCm39)	P355Q	probably damaging	Het
Pck2	G	A	14: 55,781,422 (GRCm39)	R189H	possibly damaging	Het
Pcsk5	T	A	19: 17,432,114 (GRCm39)	K1500N	possibly damaging	Het
Phc3	A	T	3: 31,002,865 (GRCm39)	S218T	probably damaging	Het
Piezo2	T	A	18: 63,239,355 (GRCm39)	M510L	possibly damaging	Het
Polr1g	T	C	7: 19,091,904 (GRCm39)	T68A	possibly damaging	Het
Ppp1r3a	A	T	6: 14,754,717 (GRCm39)	Y177N	probably damaging	Het
Psme2b	A	T	11: 48,836,361 (GRCm39)	D195E	probably damaging	Het
Ptprr	T	C	10: 116,088,827 (GRCm39)	V463A	probably damaging	Het
Pwwp2b	G	A	7: 138,836,281 (GRCm39)	R574Q	probably damaging	Het
Rap1gds1	T	A	3: 138,756,314 (GRCm39)	T14S	possibly damaging	Het
Rbm11	A	T	16: 75,397,685 (GRCm39)	K205M	probably damaging	Het
Rfx1	T	A	8: 84,793,050 (GRCm39)		probably benign	Het
Rnasel	C	A	1: 153,630,169 (GRCm39)	H228Q	probably damaging	Het
Sap130	T	A	18: 31,831,640 (GRCm39)	I710K	probably benign	Het
Slc27a4	C	A	2: 29,695,733 (GRCm39)	D89E	probably benign	Het
Spata31d1b	T	C	13: 59,863,779 (GRCm39)	V309A	probably benign	Het
Syt7	T	G	19: 10,421,354 (GRCm39)	Y420D	probably damaging	Het
Tanc2	A	G	11: 105,515,859 (GRCm39)		probably null	Het
Tbc1d10b	A	G	7: 126,802,930 (GRCm39)	S333P	possibly damaging	Het
Tenm2	G	A	11: 35,914,209 (GRCm39)	P2442S	probably damaging	Het
Tenm3	C	T	8: 49,127,579 (GRCm39)	C33Y	probably damaging	Het
Timmdc1	A	G	16: 38,319,419 (GRCm39)	L245P	possibly damaging	Het
Tlr5	T	C	1: 182,800,012 (GRCm39)	F5L	probably benign	Het
Ttll4	T	A	1: 74,726,999 (GRCm39)	F784L	possibly damaging	Het
Tulp4	A	G	17: 6,189,387 (GRCm39)	T70A	possibly damaging	Het
Txndc17	T	A	11: 72,099,571 (GRCm39)	N81K	probably benign	Het
Ubr3	C	T	2: 69,830,895 (GRCm39)		probably benign	Het
Uri1	A	C	7: 37,681,116 (GRCm39)	V96G	probably damaging	Het
Uspl1	T	A	5: 149,150,246 (GRCm39)	I482N	probably damaging	Het
Vmn1r229	A	G	17: 21,034,974 (GRCm39)	N73S	possibly damaging	Het
Vwa7	G	T	17: 35,243,388 (GRCm39)	G689*	probably null	Het
Zfp114	T	A	7: 23,877,164 (GRCm39)		probably null	Het
Zfp618	A	G	4: 63,051,474 (GRCm39)	S659G	probably damaging	Het
Zfp872	A	G	9: 22,111,349 (GRCm39)	K275R	probably damaging	Het
Zzef1	C	T	11: 72,777,535 (GRCm39)	P1789S	probably damaging	Het

Other mutations in Mmp27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Mmp27	APN	9	7,573,505 (GRCm39)	splice site	probably benign
IGL00656:Mmp27	APN	9	7,581,383 (GRCm39)	missense	possibly damaging	0.80
IGL00937:Mmp27	APN	9	7,578,900 (GRCm39)	critical splice acceptor site	probably benign	0.00
IGL01101:Mmp27	APN	9	7,573,416 (GRCm39)	missense	probably damaging	1.00
IGL01134:Mmp27	APN	9	7,573,298 (GRCm39)	missense	probably benign	0.06
IGL01631:Mmp27	APN	9	7,573,289 (GRCm39)	critical splice acceptor site	probably benign	0.00
IGL02967:Mmp27	APN	9	7,571,591 (GRCm39)	missense	probably benign	0.03
IGL03024:Mmp27	APN	9	7,581,377 (GRCm39)	missense	probably benign	0.17
R0662:Mmp27	UTSW	9	7,577,651 (GRCm39)	missense	probably benign	0.00
R0715:Mmp27	UTSW	9	7,581,156 (GRCm39)	splice site	probably benign
R0826:Mmp27	UTSW	9	7,579,010 (GRCm39)	missense	probably damaging	1.00
R1191:Mmp27	UTSW	9	7,579,067 (GRCm39)	splice site	probably null
R1983:Mmp27	UTSW	9	7,578,898 (GRCm39)	splice site	probably null
R2074:Mmp27	UTSW	9	7,577,740 (GRCm39)	missense	possibly damaging	0.50
R2172:Mmp27	UTSW	9	7,577,379 (GRCm39)	nonsense	probably null
R2445:Mmp27	UTSW	9	7,581,182 (GRCm39)	missense	probably benign	0.12
R2961:Mmp27	UTSW	9	7,573,603 (GRCm39)	missense	probably damaging	1.00
R4825:Mmp27	UTSW	9	7,581,195 (GRCm39)	missense	probably damaging	1.00
R4888:Mmp27	UTSW	9	7,581,369 (GRCm39)	missense	probably benign	0.00
R4938:Mmp27	UTSW	9	7,578,983 (GRCm39)	missense	probably damaging	0.97
R5095:Mmp27	UTSW	9	7,572,159 (GRCm39)	missense	probably damaging	1.00
R5095:Mmp27	UTSW	9	7,579,001 (GRCm39)	missense	probably damaging	1.00
R5121:Mmp27	UTSW	9	7,581,369 (GRCm39)	missense	probably benign	0.00
R5446:Mmp27	UTSW	9	7,573,516 (GRCm39)	splice site	probably benign
R5485:Mmp27	UTSW	9	7,573,363 (GRCm39)	missense	probably damaging	1.00
R5516:Mmp27	UTSW	9	7,579,063 (GRCm39)	missense	probably null	1.00
R6682:Mmp27	UTSW	9	7,573,606 (GRCm39)	missense	probably benign	0.02
R6712:Mmp27	UTSW	9	7,572,177 (GRCm39)	missense	probably damaging	1.00
R6737:Mmp27	UTSW	9	7,571,955 (GRCm39)	missense	possibly damaging	0.78
R7282:Mmp27	UTSW	9	7,578,231 (GRCm39)	missense	probably damaging	0.98
R7368:Mmp27	UTSW	9	7,577,318 (GRCm39)	missense	probably damaging	1.00
R7689:Mmp27	UTSW	9	7,579,002 (GRCm39)	missense	probably damaging	1.00
R8006:Mmp27	UTSW	9	7,578,985 (GRCm39)	missense	probably damaging	0.97
R8185:Mmp27	UTSW	9	7,573,492 (GRCm39)	missense	unknown
R8537:Mmp27	UTSW	9	7,579,776 (GRCm39)	missense	probably benign	0.00
R9039:Mmp27	UTSW	9	7,581,250 (GRCm39)	missense	probably benign	0.01
R9087:Mmp27	UTSW	9	7,579,858 (GRCm39)	missense	probably damaging	1.00
R9188:Mmp27	UTSW	9	7,579,792 (GRCm39)	missense	possibly damaging	0.55
R9280:Mmp27	UTSW	9	7,579,812 (GRCm39)	missense	probably benign	0.09
R9367:Mmp27	UTSW	9	7,573,550 (GRCm39)	missense	probably damaging	1.00
X0021:Mmp27	UTSW	9	7,573,299 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTATTGTCAGCGCTCAAAAGTG -3'
(R):5'- TGCTGTCTTGGAAAGTCCCG -3'

Sequencing Primer
(F):5'- CATGAGACACTTCATGGC -3'
(R):5'- CTGTCTTGGAAAGTCCCGAGAGAAG -3'

Posted On

2014-06-23