Incidental Mutation 'IGL02096:Mmp17'
ID 281101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp17
Ensembl Gene ENSMUSG00000029436
Gene Name matrix metallopeptidase 17
Synonyms MT4-MMP, membrane type-4 matrix metalloproteinase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL02096
Quality Score
Status
Chromosome 5
Chromosomal Location 129661233-129688163 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 129675752 bp (GRCm39)
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*

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 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
Abca9 A G 11: 109,993,359 (GRCm39) L1584P probably damaging Het
Abca9 G T 11: 110,056,806 (GRCm39) H5N probably benign Het
Acox1 A T 11: 116,069,024 (GRCm39) I371N probably damaging Het
Aopep C A 13: 63,208,903 (GRCm39) A340E probably benign Het
Bmp5 A G 9: 75,805,833 (GRCm39) N445S probably damaging Het
Cacna1b G T 2: 24,568,927 (GRCm39) A999E probably benign Het
Cdc27 A T 11: 104,419,394 (GRCm39) probably benign Het
Dmxl2 T C 9: 54,308,349 (GRCm39) E2134G possibly damaging Het
Dnttip2 A G 3: 122,078,062 (GRCm39) N698S possibly damaging Het
Duox1 A T 2: 122,174,655 (GRCm39) K1271M probably damaging Het
Dync1h1 T C 12: 110,599,254 (GRCm39) Y1870H possibly damaging Het
Edem3 A G 1: 151,680,470 (GRCm39) T532A probably benign Het
Epx A T 11: 87,760,294 (GRCm39) L440Q probably damaging Het
F11 A G 8: 45,699,791 (GRCm39) F432L probably benign Het
Fam185a C A 5: 21,630,341 (GRCm39) P59Q probably damaging Het
Fsip2 A G 2: 82,822,204 (GRCm39) D5979G possibly damaging Het
Furin A G 7: 80,043,207 (GRCm39) S335P probably damaging Het
Gtf3c1 T A 7: 125,258,284 (GRCm39) Q1262L probably damaging Het
Hmmr A T 11: 40,598,256 (GRCm39) V652E probably benign Het
Iapp A T 6: 142,249,199 (GRCm39) N84I probably benign Het
Katnip G A 7: 125,413,993 (GRCm39) C379Y probably benign Het
Mpl T C 4: 118,314,333 (GRCm39) T55A possibly damaging Het
Mst1r G A 9: 107,794,478 (GRCm39) R1219H probably damaging Het
Muc6 T A 7: 141,226,117 (GRCm39) probably benign Het
Nalcn C T 14: 123,831,915 (GRCm39) V120I probably benign Het
Nt5dc1 A T 10: 34,275,806 (GRCm39) C134* probably null Het
Obscn A C 11: 58,971,530 (GRCm39) N2228K probably damaging Het
Or2n1c T A 17: 38,520,074 (GRCm39) *313R probably null Het
Osbpl10 T C 9: 115,046,062 (GRCm39) M566T possibly damaging Het
Pabpc1l G A 2: 163,886,267 (GRCm39) V466I probably benign Het
Pdcd11 T G 19: 47,094,860 (GRCm39) V548G probably benign Het
Prss27 G T 17: 24,263,951 (GRCm39) K212N possibly damaging Het
Ranbp2 T A 10: 58,297,789 (GRCm39) S399T probably damaging Het
Rgs19 A G 2: 181,331,076 (GRCm39) S159P probably damaging Het
Sh2b1 A G 7: 126,068,465 (GRCm39) S449P probably damaging Het
Slc6a18 T A 13: 73,820,870 (GRCm39) Y238F probably benign Het
Stx11 T C 10: 12,817,224 (GRCm39) I167V probably benign Het
Sucnr1 A G 3: 59,994,371 (GRCm39) M300V possibly damaging Het
Synj2 A G 17: 6,040,628 (GRCm39) T235A probably damaging Het
Ubxn2b T A 4: 6,214,749 (GRCm39) I261N probably damaging Het
Vmn2r43 G A 7: 8,260,512 (GRCm39) probably benign Het
Vmn2r45 A G 7: 8,484,443 (GRCm39) M454T probably damaging Het
Vsig2 T A 9: 37,451,251 (GRCm39) S51T probably damaging Het
Wdr41 T C 13: 95,153,964 (GRCm39) probably benign Het
Wdr6 A C 9: 108,453,752 (GRCm39) L44V probably damaging Het
Zfp1001 T C 2: 150,165,634 (GRCm39) Y5H probably damaging Het
Zfp592 T C 7: 80,674,796 (GRCm39) Y587H probably damaging Het
Zfp735 A T 11: 73,602,254 (GRCm39) K399N probably benign Het
Other mutations in Mmp17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01473:Mmp17 APN 5 129,683,472 (GRCm39) missense probably benign 0.00
IGL01602:Mmp17 APN 5 129,679,008 (GRCm39) missense probably benign 0.00
IGL01605:Mmp17 APN 5 129,679,008 (GRCm39) missense probably benign 0.00
IGL01782:Mmp17 APN 5 129,679,205 (GRCm39) missense probably damaging 1.00
IGL01986:Mmp17 APN 5 129,673,692 (GRCm39) missense probably damaging 1.00
IGL02160:Mmp17 APN 5 129,672,633 (GRCm39) missense possibly damaging 0.91
IGL03075:Mmp17 APN 5 129,672,138 (GRCm39) missense probably damaging 1.00
P0005:Mmp17 UTSW 5 129,673,695 (GRCm39) missense probably benign 0.00
R0125:Mmp17 UTSW 5 129,671,646 (GRCm39) missense possibly damaging 0.88
R0553:Mmp17 UTSW 5 129,675,734 (GRCm39) missense probably benign 0.30
R1521:Mmp17 UTSW 5 129,672,152 (GRCm39) splice site probably null
R1938:Mmp17 UTSW 5 129,679,190 (GRCm39) missense probably damaging 1.00
R2151:Mmp17 UTSW 5 129,682,725 (GRCm39) missense probably benign 0.01
R4908:Mmp17 UTSW 5 129,682,730 (GRCm39) nonsense probably null
R4970:Mmp17 UTSW 5 129,679,229 (GRCm39) missense possibly damaging 0.51
R5096:Mmp17 UTSW 5 129,682,627 (GRCm39) missense probably damaging 1.00
R5112:Mmp17 UTSW 5 129,679,229 (GRCm39) missense possibly damaging 0.51
R5178:Mmp17 UTSW 5 129,672,122 (GRCm39) missense probably damaging 1.00
R5304:Mmp17 UTSW 5 129,671,678 (GRCm39) missense probably null 0.89
R5341:Mmp17 UTSW 5 129,679,193 (GRCm39) missense possibly damaging 0.50
R6341:Mmp17 UTSW 5 129,679,019 (GRCm39) missense probably damaging 0.99
R6501:Mmp17 UTSW 5 129,683,469 (GRCm39) missense probably benign 0.00
R7257:Mmp17 UTSW 5 129,672,697 (GRCm39) missense probably benign 0.03
R7371:Mmp17 UTSW 5 129,682,836 (GRCm39) missense probably null 0.98
R7546:Mmp17 UTSW 5 129,673,653 (GRCm39) missense probably damaging 1.00
R8026:Mmp17 UTSW 5 129,672,148 (GRCm39) critical splice donor site probably null
R8370:Mmp17 UTSW 5 129,682,642 (GRCm39) missense probably damaging 1.00
R8525:Mmp17 UTSW 5 129,679,271 (GRCm39) missense probably damaging 1.00
R8708:Mmp17 UTSW 5 129,672,486 (GRCm39) missense possibly damaging 0.67
R8803:Mmp17 UTSW 5 129,675,773 (GRCm39) nonsense probably null
R8878:Mmp17 UTSW 5 129,683,378 (GRCm39) missense probably damaging 1.00
R8882:Mmp17 UTSW 5 129,679,008 (GRCm39) missense probably benign 0.00
R9399:Mmp17 UTSW 5 129,671,686 (GRCm39) nonsense probably null
R9404:Mmp17 UTSW 5 129,682,741 (GRCm39) missense possibly damaging 0.89
R9528:Mmp17 UTSW 5 129,683,392 (GRCm39) missense probably benign 0.00
W0251:Mmp17 UTSW 5 129,672,591 (GRCm39) missense probably benign 0.09
Y5377:Mmp17 UTSW 5 129,672,594 (GRCm39) missense probably damaging 1.00
Y5380:Mmp17 UTSW 5 129,672,594 (GRCm39) missense probably damaging 1.00
Z1177:Mmp17 UTSW 5 129,672,725 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16