Incidental Mutation 'IGL03347:Adamts8'
ID419523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamts8
Ensembl Gene ENSMUSG00000031994
Gene Namea disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 8
SynonymsMETH-2, METH2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL03347
Quality Score
Status
Chromosome9
Chromosomal Location30942562-30963838 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30959238 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 670 (S670T)
Ref Sequence ENSEMBL: ENSMUSP00000069644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068135] [ENSMUST00000163037]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068135
AA Change: S670T

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069644
Gene: ENSMUSG00000031994
AA Change: S670T

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Pep_M12B_propep 35 152 6.4e-23 PFAM
Pfam:Reprolysin_5 232 418 1.3e-15 PFAM
Pfam:Reprolysin_4 233 435 3.4e-8 PFAM
Pfam:Reprolysin 234 444 3.8e-21 PFAM
Pfam:Reprolysin_2 252 434 1.3e-10 PFAM
Pfam:Reprolysin_3 255 389 7.4e-14 PFAM
TSP1 545 597 7.04e-14 SMART
Pfam:ADAM_spacer1 706 825 3.2e-35 PFAM
TSP1 851 904 5.35e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163037
SMART Domains Protein: ENSMUSP00000124848
Gene: ENSMUSG00000031994

DomainStartEndE-ValueType
PDB:2V4B|B 22 128 2e-38 PDB
SCOP:d1kufa_ 27 128 2e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214688
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. This gene is expressed in mouse lung, heart and macrophage-rich areas of atherosclerotic plaques. The encoded preproprotein undergoes proteolytic processing to generate an active, zinc-dependent aggrecanase enzyme. This gene is located adjacent to a related ADAMTS gene on chromosome 9. [provided by RefSeq, May 2016]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 G T 6: 92,887,432 Y185* probably null Het
Arid3a T A 10: 79,951,279 S512R possibly damaging Het
Atf6b T C 17: 34,653,240 V524A probably damaging Het
B230118H07Rik A G 2: 101,583,519 probably null Het
Camk2d A G 3: 126,796,901 T254A probably damaging Het
Camsap2 G T 1: 136,280,986 Q923K possibly damaging Het
Car10 G A 11: 93,100,296 probably benign Het
Ccdc39 A G 3: 33,837,843 L160P probably damaging Het
Cdh7 A T 1: 110,138,243 D749V possibly damaging Het
Cox6a2 A T 7: 128,205,728 probably benign Het
Cpne1 A T 2: 156,079,176 Y65N probably damaging Het
Dnm1 T C 2: 32,353,187 D8G probably benign Het
Emsy A G 7: 98,610,685 S140P probably damaging Het
Fam13b G A 18: 34,462,051 probably benign Het
Fbn2 T C 18: 58,013,665 R2720G probably damaging Het
Fkbpl A G 17: 34,646,313 probably benign Het
Gm4737 A G 16: 46,154,489 V175A probably benign Het
Gpr179 A G 11: 97,351,838 L60P probably damaging Het
Igsf10 A T 3: 59,331,900 S287T possibly damaging Het
Kat2b G A 17: 53,624,351 probably null Het
Kazald1 A G 19: 45,078,416 D218G possibly damaging Het
Mbtd1 A G 11: 93,923,179 E216G probably benign Het
Mtmr9 C A 14: 63,543,567 V25L probably benign Het
Myo16 A G 8: 10,376,120 probably null Het
Nfkbil1 A T 17: 35,220,583 V318E probably damaging Het
Olfr1009 T C 2: 85,721,807 V134A probably benign Het
Olfr697 A T 7: 106,740,970 probably benign Het
Pidd1 A G 7: 141,439,168 V800A probably damaging Het
Ptprs G A 17: 56,435,972 S390L probably benign Het
Ralgapb G A 2: 158,465,960 V729I possibly damaging Het
Sfrp5 T A 19: 42,198,768 M288L probably benign Het
Slc26a1 C A 5: 108,673,810 G71V probably damaging Het
Srcin1 A T 11: 97,525,344 S1021T probably damaging Het
Supt6 A T 11: 78,232,185 M124K possibly damaging Het
Thada A G 17: 84,398,205 F1157S probably damaging Het
Tmcc2 A G 1: 132,357,652 S424P probably damaging Het
Trim37 G A 11: 87,201,621 R752Q possibly damaging Het
Unc80 A T 1: 66,695,466 Q238L probably damaging Het
Vmn2r23 C A 6: 123,704,374 H80Q probably benign Het
Wnt9a A T 11: 59,330,914 T213S probably damaging Het
Zfp953 T A 13: 67,343,426 Q154L probably benign Het
Other mutations in Adamts8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Adamts8 APN 9 30953500 missense probably damaging 1.00
IGL02049:Adamts8 APN 9 30951354 missense probably damaging 0.96
IGL02304:Adamts8 APN 9 30956656 missense possibly damaging 0.55
IGL02385:Adamts8 APN 9 30961730 missense probably benign 0.10
IGL02536:Adamts8 APN 9 30962072 missense probably benign 0.05
R0633:Adamts8 UTSW 9 30943511 missense probably damaging 1.00
R1066:Adamts8 UTSW 9 30956541 missense probably damaging 1.00
R1464:Adamts8 UTSW 9 30951377 missense probably benign
R1464:Adamts8 UTSW 9 30951377 missense probably benign
R1560:Adamts8 UTSW 9 30956667 missense probably damaging 1.00
R1592:Adamts8 UTSW 9 30943176 missense probably damaging 0.99
R1753:Adamts8 UTSW 9 30954614 missense probably benign 0.04
R1932:Adamts8 UTSW 9 30956512 missense probably benign
R2087:Adamts8 UTSW 9 30962112 missense probably damaging 1.00
R2118:Adamts8 UTSW 9 30943063 missense probably damaging 1.00
R3789:Adamts8 UTSW 9 30959292 missense probably damaging 1.00
R4165:Adamts8 UTSW 9 30951388 missense probably benign 0.01
R4166:Adamts8 UTSW 9 30951388 missense probably benign 0.01
R4193:Adamts8 UTSW 9 30959308 missense probably damaging 1.00
R4425:Adamts8 UTSW 9 30956656 missense possibly damaging 0.55
R5155:Adamts8 UTSW 9 30954548 missense probably benign 0.33
R5433:Adamts8 UTSW 9 30961716 missense probably benign 0.01
R5544:Adamts8 UTSW 9 30952703 missense probably damaging 1.00
R5590:Adamts8 UTSW 9 30951336 missense probably damaging 0.97
R5640:Adamts8 UTSW 9 30956500 missense probably benign 0.00
R5800:Adamts8 UTSW 9 30954482 missense probably damaging 1.00
R5909:Adamts8 UTSW 9 30961928 missense probably benign 0.00
R6821:Adamts8 UTSW 9 30956626 missense probably benign 0.08
R6967:Adamts8 UTSW 9 30954491 missense probably benign 0.04
R7336:Adamts8 UTSW 9 30962067 missense probably benign 0.00
R7538:Adamts8 UTSW 9 30953470 missense probably damaging 1.00
R7540:Adamts8 UTSW 9 30959064 missense probably damaging 0.96
Posted On2016-08-02