Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02096:Mmp17'

281101

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmp17

Ensembl Gene

ENSMUSG00000029436

Gene Name

matrix metallopeptidase 17

Synonyms

membrane type-4 matrix metalloproteinase, MT4-MMP

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02096

Quality Score

Status

Chromosome

Chromosomal Location

129584169-129611099 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 129598688 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 304 (Q304*)

Ref Sequence

ENSEMBL: ENSMUSP00000031390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031390]

AlphaFold

Q9R0S3

Predicted Effect

probably null
Transcript: ENSMUST00000031390
AA Change: Q304*

SMART Domains

Protein: ENSMUSP00000031390
Gene: ENSMUSG00000029436
AA Change: Q304*

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
Pfam:PG_binding_1	44	104	5e-15	PFAM
ZnMc	128	295	8.26e-47	SMART
low complexity region	308	320	N/A	INTRINSIC
HX	340	384	3.17e-8	SMART
HX	389	432	2.59e-13	SMART
HX	435	481	6.39e-13	SMART
HX	483	527	1.1e-7	SMART
low complexity region	563	578	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177802

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 3604575; 3777020
FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Mice lacking the encoded protein exhibit dysfunctional vascular smooth muscle cells and altered extracellular matrix in the vessel wall leading to an increased susceptibility to angiotensin-II-induced thoracic aortic aneurysm. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a reporter allele exhibit normal morphology, clinical chemistry, hematology and behavior. Mice homozygous for a reporter/null allele exhibit normal growth, fertility, and lifespan but show subtle renal developmental defects, hypodipsia, and elevated urine osmolarity. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	C	A	13: 63,061,089	A340E	probably benign	Het
Abca9	A	G	11: 110,102,533	L1584P	probably damaging	Het
Abca9	G	T	11: 110,165,980	H5N	probably benign	Het
Acox1	A	T	11: 116,178,198	I371N	probably damaging	Het
Bmp5	A	G	9: 75,898,551	N445S	probably damaging	Het
Cacna1b	G	T	2: 24,678,915	A999E	probably benign	Het
Cdc27	A	T	11: 104,528,568		probably benign	Het
D430042O09Rik	G	A	7: 125,814,821	C379Y	probably benign	Het
Dmxl2	T	C	9: 54,401,065	E2134G	possibly damaging	Het
Dnttip2	A	G	3: 122,284,413	N698S	possibly damaging	Het
Duox1	A	T	2: 122,344,174	K1271M	probably damaging	Het
Dync1h1	T	C	12: 110,632,820	Y1870H	possibly damaging	Het
Edem3	A	G	1: 151,804,719	T532A	probably benign	Het
Epx	A	T	11: 87,869,468	L440Q	probably damaging	Het
F11	A	G	8: 45,246,754	F432L	probably benign	Het
Fam185a	C	A	5: 21,425,343	P59Q	probably damaging	Het
Fsip2	A	G	2: 82,991,860	D5979G	possibly damaging	Het
Furin	A	G	7: 80,393,459	S335P	probably damaging	Het
Gm10130	T	C	2: 150,323,714	Y5H	probably damaging	Het
Gtf3c1	T	A	7: 125,659,112	Q1262L	probably damaging	Het
Hmmr	A	T	11: 40,707,429	V652E	probably benign	Het
Iapp	A	T	6: 142,303,473	N84I	probably benign	Het
Mpl	T	C	4: 118,457,136	T55A	possibly damaging	Het
Mst1r	G	A	9: 107,917,279	R1219H	probably damaging	Het
Muc6	T	A	7: 141,639,850		probably benign	Het
Nalcn	C	T	14: 123,594,503	V120I	probably benign	Het
Nt5dc1	A	T	10: 34,399,810	C134*	probably null	Het
Obscn	A	C	11: 59,080,704	N2228K	probably damaging	Het
Olfr135	T	A	17: 38,209,183	*313R	probably null	Het
Osbpl10	T	C	9: 115,216,994	M566T	possibly damaging	Het
Pabpc1l	G	A	2: 164,044,347	V466I	probably benign	Het
Pdcd11	T	G	19: 47,106,421	V548G	probably benign	Het
Prss27	G	T	17: 24,044,977	K212N	possibly damaging	Het
Ranbp2	T	A	10: 58,461,967	S399T	probably damaging	Het
Rgs19	A	G	2: 181,689,283	S159P	probably damaging	Het
Sh2b1	A	G	7: 126,469,293	S449P	probably damaging	Het
Slc6a18	T	A	13: 73,672,751	Y238F	probably benign	Het
Stx11	T	C	10: 12,941,480	I167V	probably benign	Het
Sucnr1	A	G	3: 60,086,950	M300V	possibly damaging	Het
Synj2	A	G	17: 5,990,353	T235A	probably damaging	Het
Ubxn2b	T	A	4: 6,214,749	I261N	probably damaging	Het
Vmn2r43	G	A	7: 8,257,513		probably benign	Het
Vmn2r45	A	G	7: 8,481,444	M454T	probably damaging	Het
Vsig2	T	A	9: 37,539,955	S51T	probably damaging	Het
Wdr41	T	C	13: 95,017,456		probably benign	Het
Wdr6	A	C	9: 108,576,553	L44V	probably damaging	Het
Zfp592	T	C	7: 81,025,048	Y587H	probably damaging	Het
Zfp735	A	T	11: 73,711,428	K399N	probably benign	Het

Other mutations in Mmp17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Mmp17	APN	5	129606408	missense	probably benign	0.00
IGL01602:Mmp17	APN	5	129601944	missense	probably benign	0.00
IGL01605:Mmp17	APN	5	129601944	missense	probably benign	0.00
IGL01782:Mmp17	APN	5	129602141	missense	probably damaging	1.00
IGL01986:Mmp17	APN	5	129596628	missense	probably damaging	1.00
IGL02160:Mmp17	APN	5	129595569	missense	possibly damaging	0.91
IGL03075:Mmp17	APN	5	129595074	missense	probably damaging	1.00
P0005:Mmp17	UTSW	5	129596631	missense	probably benign	0.00
R0125:Mmp17	UTSW	5	129594582	missense	possibly damaging	0.88
R0553:Mmp17	UTSW	5	129598670	missense	probably benign	0.30
R1521:Mmp17	UTSW	5	129595088	splice site	probably null
R1938:Mmp17	UTSW	5	129602126	missense	probably damaging	1.00
R2151:Mmp17	UTSW	5	129605661	missense	probably benign	0.01
R4908:Mmp17	UTSW	5	129605666	nonsense	probably null
R4970:Mmp17	UTSW	5	129602165	missense	possibly damaging	0.51
R5096:Mmp17	UTSW	5	129605563	missense	probably damaging	1.00
R5112:Mmp17	UTSW	5	129602165	missense	possibly damaging	0.51
R5178:Mmp17	UTSW	5	129595058	missense	probably damaging	1.00
R5304:Mmp17	UTSW	5	129594614	missense	probably null	0.89
R5341:Mmp17	UTSW	5	129602129	missense	possibly damaging	0.50
R6341:Mmp17	UTSW	5	129601955	missense	probably damaging	0.99
R6501:Mmp17	UTSW	5	129606405	missense	probably benign	0.00
R7257:Mmp17	UTSW	5	129595633	missense	probably benign	0.03
R7371:Mmp17	UTSW	5	129605772	missense	probably null	0.98
R7546:Mmp17	UTSW	5	129596589	missense	probably damaging	1.00
R8026:Mmp17	UTSW	5	129595084	critical splice donor site	probably null
R8370:Mmp17	UTSW	5	129605578	missense	probably damaging	1.00
R8525:Mmp17	UTSW	5	129602207	missense	probably damaging	1.00
R8708:Mmp17	UTSW	5	129595422	missense	possibly damaging	0.67
R8803:Mmp17	UTSW	5	129598709	nonsense	probably null
R8878:Mmp17	UTSW	5	129606314	missense	probably damaging	1.00
R8882:Mmp17	UTSW	5	129601944	missense	probably benign	0.00
R9399:Mmp17	UTSW	5	129594622	nonsense	probably null
R9404:Mmp17	UTSW	5	129605677	missense	possibly damaging	0.89
R9528:Mmp17	UTSW	5	129606328	missense	probably benign	0.00
W0251:Mmp17	UTSW	5	129595527	missense	probably benign	0.09
Y5377:Mmp17	UTSW	5	129595530	missense	probably damaging	1.00
Y5380:Mmp17	UTSW	5	129595530	missense	probably damaging	1.00
Z1177:Mmp17	UTSW	5	129595661	missense	possibly damaging	0.95

Posted On

2015-04-16