Incidental Mutation 'R6967:Adamts8'
ID 542058
Institutional Source Beutler Lab
Gene Symbol Adamts8
Ensembl Gene ENSMUSG00000031994
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 8
Synonyms METH2, METH-2
MMRRC Submission 045077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R6967 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 30853858-30875134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30865787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 445 (T445I)
Ref Sequence ENSEMBL: ENSMUSP00000069644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068135] [ENSMUST00000163037]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000068135
AA Change: T445I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000069644
Gene: ENSMUSG00000031994
AA Change: T445I

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 97% (56/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik A G 7: 103,708,212 (GRCm39) I199T probably benign Het
Adam23 T G 1: 63,602,495 (GRCm39) probably null Het
Ahi1 T C 10: 20,864,524 (GRCm39) V752A probably damaging Het
Arfgef1 T C 1: 10,223,903 (GRCm39) Q1465R probably damaging Het
Arfgef1 G T 1: 10,223,904 (GRCm39) Q1465K probably damaging Het
Bicra T C 7: 15,706,130 (GRCm39) E1437G probably damaging Het
Cdc42ep4 C T 11: 113,619,998 (GRCm39) S131N possibly damaging Het
Ces1f G A 8: 93,994,625 (GRCm39) P262L probably benign Het
Chrna2 A T 14: 66,388,398 (GRCm39) probably null Het
Cspg4 G A 9: 56,797,420 (GRCm39) V1295M possibly damaging Het
D5Ertd579e T C 5: 36,773,100 (GRCm39) T432A probably benign Het
Dach1 A T 14: 98,140,633 (GRCm39) S456R probably damaging Het
Dhx37 T C 5: 125,499,231 (GRCm39) D659G probably benign Het
Dscaml1 T C 9: 45,585,821 (GRCm39) V586A probably damaging Het
Efhb G T 17: 53,770,196 (GRCm39) L38I probably benign Het
Fbxw10 T C 11: 62,738,429 (GRCm39) S108P possibly damaging Het
Fmnl2 A G 2: 52,987,344 (GRCm39) N313S possibly damaging Het
Gga3 T C 11: 115,482,102 (GRCm39) E172G probably damaging Het
Ggta1 A G 2: 35,292,734 (GRCm39) V191A possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Hcn4 C T 9: 58,731,228 (GRCm39) T145M unknown Het
Kirrel3 T C 9: 34,946,202 (GRCm39) S654P probably damaging Het
Klrb1 A T 6: 128,687,486 (GRCm39) probably null Het
Krt15 T A 11: 100,025,339 (GRCm39) D166V probably damaging Het
Lipk T A 19: 34,017,794 (GRCm39) Y277* probably null Het
Ly6g A C 15: 75,030,398 (GRCm39) N49T possibly damaging Het
Ms4a4c A T 19: 11,392,191 (GRCm39) Q4L probably benign Het
Nfya A C 17: 48,699,932 (GRCm39) probably benign Het
Nub1 T C 5: 24,913,709 (GRCm39) V530A probably benign Het
Ocln A T 13: 100,675,796 (GRCm39) Y232* probably null Het
Or10ag59 A G 2: 87,405,857 (GRCm39) N143S possibly damaging Het
Or2r2 A G 6: 42,463,947 (GRCm39) F60S probably damaging Het
Or4d2b C T 11: 87,780,324 (GRCm39) V133I probably benign Het
Or5b114-ps1 A G 19: 13,352,815 (GRCm39) H163R unknown Het
Otogl G A 10: 107,649,911 (GRCm39) A1148V probably benign Het
Paqr5 C T 9: 61,880,113 (GRCm39) W46* probably null Het
Psd2 C A 18: 36,113,385 (GRCm39) L286M probably damaging Het
Ptpn4 A T 1: 119,612,311 (GRCm39) Y27* probably null Het
Ripk2 A G 4: 16,158,275 (GRCm39) probably null Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sbk2 C T 7: 4,967,146 (GRCm39) probably null Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Sspo A C 6: 48,466,728 (GRCm39) D4072A probably benign Het
St6galnac3 T C 3: 152,912,345 (GRCm39) Y214C probably damaging Het
Sugp1 T A 8: 70,513,202 (GRCm39) D256E possibly damaging Het
Sugt1 A G 14: 79,834,847 (GRCm39) Y90C probably benign Het
Taok2 A G 7: 126,469,564 (GRCm39) I1088T probably damaging Het
Tasor2 A T 13: 3,624,819 (GRCm39) D1710E probably benign Het
Tmc7 T A 7: 118,146,901 (GRCm39) T459S probably benign Het
Tmed11 T C 5: 108,926,780 (GRCm39) Y164C probably damaging Het
Tmem275 A G 4: 115,755,491 (GRCm39) T97A unknown Het
Tmem63b T C 17: 45,977,558 (GRCm39) E356G probably benign Het
Ttc13 T C 8: 125,415,357 (GRCm39) I261V probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn1r73 A T 7: 11,490,544 (GRCm39) K121* probably null Het
Zc3h12d A T 10: 7,715,644 (GRCm39) S16C probably damaging Het
Zfp292 A T 4: 34,807,812 (GRCm39) M1744K probably damaging Het
Other mutations in Adamts8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Adamts8 APN 9 30,864,796 (GRCm39) missense probably damaging 1.00
IGL02049:Adamts8 APN 9 30,862,650 (GRCm39) missense probably damaging 0.96
IGL02304:Adamts8 APN 9 30,867,952 (GRCm39) missense possibly damaging 0.55
IGL02385:Adamts8 APN 9 30,873,026 (GRCm39) missense probably benign 0.10
IGL02536:Adamts8 APN 9 30,873,368 (GRCm39) missense probably benign 0.05
IGL03347:Adamts8 APN 9 30,870,534 (GRCm39) missense possibly damaging 0.75
R0633:Adamts8 UTSW 9 30,854,807 (GRCm39) missense probably damaging 1.00
R1066:Adamts8 UTSW 9 30,867,837 (GRCm39) missense probably damaging 1.00
R1464:Adamts8 UTSW 9 30,862,673 (GRCm39) missense probably benign
R1464:Adamts8 UTSW 9 30,862,673 (GRCm39) missense probably benign
R1560:Adamts8 UTSW 9 30,867,963 (GRCm39) missense probably damaging 1.00
R1592:Adamts8 UTSW 9 30,854,472 (GRCm39) missense probably damaging 0.99
R1753:Adamts8 UTSW 9 30,865,910 (GRCm39) missense probably benign 0.04
R1932:Adamts8 UTSW 9 30,867,808 (GRCm39) missense probably benign
R2087:Adamts8 UTSW 9 30,873,408 (GRCm39) missense probably damaging 1.00
R2118:Adamts8 UTSW 9 30,854,359 (GRCm39) missense probably damaging 1.00
R3789:Adamts8 UTSW 9 30,870,588 (GRCm39) missense probably damaging 1.00
R4165:Adamts8 UTSW 9 30,862,684 (GRCm39) missense probably benign 0.01
R4166:Adamts8 UTSW 9 30,862,684 (GRCm39) missense probably benign 0.01
R4193:Adamts8 UTSW 9 30,870,604 (GRCm39) missense probably damaging 1.00
R4425:Adamts8 UTSW 9 30,867,952 (GRCm39) missense possibly damaging 0.55
R5155:Adamts8 UTSW 9 30,865,844 (GRCm39) missense probably benign 0.33
R5433:Adamts8 UTSW 9 30,873,012 (GRCm39) missense probably benign 0.01
R5544:Adamts8 UTSW 9 30,863,999 (GRCm39) missense probably damaging 1.00
R5590:Adamts8 UTSW 9 30,862,632 (GRCm39) missense probably damaging 0.97
R5640:Adamts8 UTSW 9 30,867,796 (GRCm39) missense probably benign 0.00
R5800:Adamts8 UTSW 9 30,865,778 (GRCm39) missense probably damaging 1.00
R5909:Adamts8 UTSW 9 30,873,224 (GRCm39) missense probably benign 0.00
R6821:Adamts8 UTSW 9 30,867,922 (GRCm39) missense probably benign 0.08
R7336:Adamts8 UTSW 9 30,873,363 (GRCm39) missense probably benign 0.00
R7538:Adamts8 UTSW 9 30,864,766 (GRCm39) missense probably damaging 1.00
R7540:Adamts8 UTSW 9 30,870,360 (GRCm39) missense probably damaging 0.96
R7942:Adamts8 UTSW 9 30,870,209 (GRCm39) critical splice acceptor site probably null
R7942:Adamts8 UTSW 9 30,864,778 (GRCm39) missense probably damaging 1.00
R8085:Adamts8 UTSW 9 30,854,611 (GRCm39) missense probably benign 0.01
R8795:Adamts8 UTSW 9 30,854,484 (GRCm39) missense probably benign 0.00
R8877:Adamts8 UTSW 9 30,862,688 (GRCm39) missense probably damaging 1.00
R8900:Adamts8 UTSW 9 30,865,930 (GRCm39) missense probably benign 0.01
R9141:Adamts8 UTSW 9 30,864,721 (GRCm39) missense possibly damaging 0.72
R9224:Adamts8 UTSW 9 30,854,188 (GRCm39) missense probably benign 0.18
R9326:Adamts8 UTSW 9 30,854,886 (GRCm39) missense probably benign
R9331:Adamts8 UTSW 9 30,862,770 (GRCm39) missense probably damaging 1.00
R9426:Adamts8 UTSW 9 30,864,721 (GRCm39) missense possibly damaging 0.72
R9796:Adamts8 UTSW 9 30,862,569 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTGCCCAGAATTGAACAAGCTC -3'
(R):5'- GGCAAATGGGCTCATCACTATC -3'

Sequencing Primer
(F):5'- CCAGAATTGAACAAGCTCTGTGTTCC -3'
(R):5'- AATGGGCTCATCACTATCCCGATG -3'
Posted On 2018-11-28