Incidental Mutation 'IGL02304:Adamts8'
ID287504
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 #IGL02304
Quality Score
Status
Chromosome9
Chromosomal Location30942562-30963838 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30956656 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 592 (N592S)
Ref Sequence ENSEMBL: ENSMUSP00000069644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068135] [ENSMUST00000163037]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068135
AA Change: N592S

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000069644
Gene: ENSMUSG00000031994
AA Change: N592S

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
Meta Mutation Damage Score 0.1795 question?
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik G T 18: 68,950,051 H31N unknown Het
Atp1a2 C A 1: 172,289,353 E232D probably benign Het
Cacnb3 A T 15: 98,642,382 D323V probably damaging Het
Cdh9 A T 15: 16,848,601 T456S probably benign Het
Cep162 A T 9: 87,227,147 probably benign Het
Clvs2 T C 10: 33,528,447 M258V probably benign Het
Col6a5 T C 9: 105,928,414 T1098A unknown Het
Foxs1 T C 2: 152,932,350 D261G probably benign Het
Gas2l2 T C 11: 83,424,238 probably benign Het
Gins4 A T 8: 23,232,609 M98K probably benign Het
Gm12355 C T 11: 98,625,538 R3H probably benign Het
Gm9637 A T 14: 19,402,545 noncoding transcript Het
Herc1 A G 9: 66,476,414 D3720G probably benign Het
Kcnh5 C T 12: 74,976,697 M532I probably benign Het
Kcnk18 T C 19: 59,234,863 Y147H probably damaging Het
Kif21a A T 15: 90,965,535 F55Y probably damaging Het
Krt15 T A 11: 100,133,677 I278F possibly damaging Het
L3mbtl4 T A 17: 68,587,185 Y395* probably null Het
Mcm3ap T A 10: 76,484,738 N843K possibly damaging Het
Mpdz T C 4: 81,310,157 K1337E possibly damaging Het
Mpdz G A 4: 81,297,559 probably benign Het
Ms4a6d T C 19: 11,603,141 probably benign Het
Myo7a G T 7: 98,077,736 R922S possibly damaging Het
Nek1 G T 8: 61,012,167 G97C probably damaging Het
Obscn A G 11: 59,076,622 Y2963H probably damaging Het
Olfr1138 C T 2: 87,737,986 V113M probably benign Het
Olfr1294 T C 2: 111,537,401 N296S probably benign Het
Olfr731 T C 14: 50,238,760 N42D probably damaging Het
Prmt3 G A 7: 49,826,737 V365I probably benign Het
Prrc2c T C 1: 162,684,136 T958A probably benign Het
Ptprb T C 10: 116,331,259 Y947H probably damaging Het
Pus10 C T 11: 23,712,275 S315L probably damaging Het
Rmi1 C A 13: 58,409,476 S513* probably null Het
Sec14l3 C T 11: 4,074,768 P239L probably damaging Het
Slc44a3 T C 3: 121,527,074 T93A possibly damaging Het
Stat1 G A 1: 52,132,544 A125T probably benign Het
Tigd2 C T 6: 59,211,698 Q517* probably null Het
Trav13d-3 C T 14: 53,033,380 Q100* probably null Het
Trim67 G A 8: 124,825,952 D598N probably damaging Het
Trio A G 15: 27,735,436 L2856P 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
IGL02385:Adamts8 APN 9 30961730 missense probably benign 0.10
IGL02536:Adamts8 APN 9 30962072 missense probably benign 0.05
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