Incidental Mutation 'IGL02536:Adamts8'
ID297510
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 #IGL02536
Quality Score
Status
Chromosome9
Chromosomal Location30942562-30963838 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30962072 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 858 (S858T)
Ref Sequence ENSEMBL: ENSMUSP00000069644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068135] [ENSMUST00000163037]
Predicted Effect probably benign
Transcript: ENSMUST00000068135
AA Change: S858T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000069644
Gene: ENSMUSG00000031994
AA Change: S858T

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik T A 3: 59,778,244 noncoding transcript Het
Abca8b C T 11: 109,981,748 R9H probably benign Het
Alg1 C T 16: 5,239,159 Q245* probably null Het
Ankmy1 T C 1: 92,886,188 Y423C probably damaging Het
Anp32a A T 9: 62,371,828 T55S probably damaging Het
Arhgef9 A C X: 95,058,837 V406G probably damaging Het
Bdkrb1 T C 12: 105,605,000 F275S possibly damaging Het
Card9 C T 2: 26,358,832 V102I possibly damaging Het
Ccdc130 A T 8: 84,260,616 Y109* probably null Het
Ccdc81 A T 7: 89,877,580 probably benign Het
Cd101 T A 3: 101,003,597 D915V probably damaging Het
Cdk10 A G 8: 123,227,015 D77G possibly damaging Het
Ctnnd1 T C 2: 84,605,196 T827A probably benign Het
Dspp A C 5: 104,175,665 T225P probably damaging Het
Evpl T C 11: 116,221,209 E1885G probably damaging Het
Fstl4 C T 11: 53,134,024 probably benign Het
Gm5930 T A 14: 44,337,558 N57I probably damaging Het
Gnl2 C T 4: 125,052,608 Q541* probably null Het
Igkv3-1 T C 6: 70,704,051 V78A probably benign Het
Inpp5a T C 7: 139,567,422 I321T probably benign Het
Kif20b T A 19: 34,974,559 S1746T probably benign Het
Lrrc8c T C 5: 105,607,172 I271T probably benign Het
Mrps10 T C 17: 47,375,003 Y152H probably damaging Het
Myl9 C T 2: 156,778,549 S2L probably damaging Het
Myof A T 19: 37,949,655 H870Q probably damaging Het
Nfatc4 A T 14: 55,829,910 I456F probably damaging Het
Notch2 A G 3: 98,102,407 H550R probably benign Het
Olfr113 T A 17: 37,574,926 I166F probably damaging Het
Olfr275 T A 4: 52,825,817 V140D possibly damaging Het
Olfr624 T A 7: 103,670,957 I25F possibly damaging Het
Olfr911-ps1 T C 9: 38,524,164 L144P probably damaging Het
P2rx1 A T 11: 73,012,474 I230F probably damaging Het
Pcnt A G 10: 76,380,229 V2275A possibly damaging Het
Pip5k1a G A 3: 95,064,396 T465I probably benign Het
Pnkd G A 1: 74,351,900 R415H probably damaging Het
Prdx4 T A X: 155,332,447 I132F probably damaging Het
Pvr A G 7: 19,918,792 M66T probably benign Het
Rnf216 A G 5: 143,080,240 I531T probably benign Het
Rps6ka4 A T 19: 6,832,071 F405Y probably damaging Het
Serpinb2 A G 1: 107,524,949 probably benign Het
Sfxn1 A G 13: 54,085,494 K12R probably benign Het
Slc17a7 A G 7: 45,170,946 E275G probably damaging Het
Tnpo2 A T 8: 85,045,067 I245F probably benign Het
Ush2a A T 1: 188,957,266 probably null Het
Zcchc4 C T 5: 52,808,316 R321W probably damaging 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
IGL03347:Adamts8 APN 9 30959238 missense possibly damaging 0.75
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 On2015-04-16