Incidental Mutation 'IGL02096:Mmp17'
ID281101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp17
Ensembl Gene ENSMUSG00000029436
Gene Namematrix metallopeptidase 17
Synonymsmembrane type-4 matrix metalloproteinase, MT4-MMP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL02096
Quality Score
Status
Chromosome5
Chromosomal Location129584169-129611099 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 129598688 bp
ZygosityHeterozygous
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]
Predicted Effect probably null
Transcript: ENSMUST00000031390
AA Change: Q304*
SMART Domains Protein: ENSMUSP00000031390
Gene: ENSMUSG00000029436
AA Change: Q304*

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On2015-04-16