Incidental Mutation 'IGL02312:Adamts19'
ID287846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamts19
Ensembl Gene ENSMUSG00000053441
Gene Namea disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 19
SynonymsD230034E10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02312
Quality Score
Status
Chromosome18
Chromosomal Location58836764-59053678 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 58927297 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 454 (V454E)
Ref Sequence ENSEMBL: ENSMUSP00000050535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052907]
Predicted Effect probably damaging
Transcript: ENSMUST00000052907
AA Change: V454E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050535
Gene: ENSMUSG00000053441
AA Change: V454E

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 57 84 N/A INTRINSIC
low complexity region 109 124 N/A INTRINSIC
Pfam:Pep_M12B_propep 131 276 1.6e-21 PFAM
Pfam:Reprolysin_5 326 523 1.7e-13 PFAM
Pfam:Reprolysin_4 328 544 2e-10 PFAM
Pfam:Reprolysin 328 548 9e-22 PFAM
Pfam:Reprolysin_2 346 537 1.6e-9 PFAM
Pfam:Reprolysin_3 350 496 3.4e-12 PFAM
low complexity region 551 562 N/A INTRINSIC
TSP1 639 689 5.68e-9 SMART
Pfam:ADAM_spacer1 793 903 1.1e-31 PFAM
TSP1 922 980 4.95e-2 SMART
TSP1 982 1040 4.95e-2 SMART
TSP1 1042 1086 1.62e-4 SMART
TSP1 1093 1147 1.03e-6 SMART
Pfam:PLAC 1167 1199 4.2e-9 PFAM
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 predominantly expressed in the ovary with lower levels of expression observed in kidney, heart, skeletal muscle, lung and testis. The encoded preproprotein undergoes proteolytic processing to generate an active protease. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b G T 8: 21,994,770 Q1424K probably damaging Het
Bicra T C 7: 15,993,141 D30G possibly damaging Het
Cdhr2 A G 13: 54,717,888 D233G probably null Het
Clint1 C T 11: 45,894,056 T294M probably damaging Het
Cntnap5c C T 17: 58,138,699 T578I probably benign Het
Col12a1 G T 9: 79,681,515 T1106N probably damaging Het
Dnah10 A G 5: 124,819,366 Y3598C probably damaging Het
Dnaja3 A G 16: 4,694,436 T235A probably benign Het
Eif2s1 T C 12: 78,880,016 I180T probably damaging Het
Ergic1 C A 17: 26,629,627 P108Q probably damaging Het
Fat2 T A 11: 55,270,259 D3215V probably damaging Het
Galnt17 A T 5: 131,306,533 I23N probably benign Het
Gm5416 A G 16: 36,210,477 probably benign Het
Gm8909 T C 17: 36,165,407 I350V probably benign Het
Gpr20 C T 15: 73,696,426 R38Q probably benign Het
Grin2b T C 6: 135,739,090 D743G probably damaging Het
Hmbs A G 9: 44,341,213 probably null Het
Hunk T C 16: 90,475,941 Y302H probably damaging Het
Mybph A T 1: 134,197,450 I239F probably damaging Het
Ncoa3 G A 2: 166,057,200 A821T probably benign Het
Nf1 A G 11: 79,444,648 I979V possibly damaging Het
Olfr1137 T C 2: 87,711,009 E299G probably benign Het
Olfr871 A T 9: 20,213,081 H244L probably damaging Het
Papd4 C T 13: 93,175,533 V220I probably benign Het
Pdilt G A 7: 119,519,667 T53M probably benign Het
Pdlim1 T C 19: 40,223,061 T263A probably benign Het
Pik3cg A T 12: 32,194,821 M878K possibly damaging Het
Plod1 T C 4: 147,926,157 K279R probably benign Het
Plxna4 T C 6: 32,165,117 T1602A possibly damaging Het
Rb1cc1 T A 1: 6,265,623 probably null Het
Rnls G A 19: 33,168,383 T112I probably benign Het
Ropn1 G A 16: 34,677,277 V180I probably benign Het
Rptor T C 11: 119,846,915 Y605H possibly damaging Het
Sidt2 T C 9: 45,947,001 Y80C probably benign Het
Slit1 A T 19: 41,601,680 V1389E possibly damaging Het
Spz1 G A 13: 92,575,885 P28S probably benign Het
Sult1c1 T A 17: 53,962,430 M257L probably benign Het
Tm2d3 T C 7: 65,699,169 probably null Het
Uqcr10 T C 11: 4,704,153 probably null Het
Other mutations in Adamts19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Adamts19 APN 18 59024465 missense probably damaging 1.00
IGL00331:Adamts19 APN 18 59007325 splice site probably benign
IGL00970:Adamts19 APN 18 59011077 missense possibly damaging 0.82
IGL01328:Adamts19 APN 18 59048882 missense possibly damaging 0.89
IGL01385:Adamts19 APN 18 58972779 missense probably damaging 0.98
IGL01529:Adamts19 APN 18 58963463 missense probably damaging 0.99
IGL01535:Adamts19 APN 18 58968819 missense probably benign 0.00
IGL01557:Adamts19 APN 18 58968720 splice site probably null
IGL01705:Adamts19 APN 18 59032966 missense possibly damaging 0.91
IGL01803:Adamts19 APN 18 58952469 missense probably damaging 1.00
IGL02116:Adamts19 APN 18 58837499 missense probably benign
IGL02131:Adamts19 APN 18 59052660 missense probably damaging 1.00
IGL02755:Adamts19 APN 18 58969933 missense probably benign 0.25
IGL02866:Adamts19 APN 18 59048842 missense possibly damaging 0.80
IGL02964:Adamts19 APN 18 58988965 missense probably damaging 1.00
IGL02982:Adamts19 APN 18 59024518 missense probably damaging 1.00
IGL03040:Adamts19 APN 18 58903008 missense probably benign 0.05
R0081:Adamts19 UTSW 18 58903065 critical splice donor site probably null
R0194:Adamts19 UTSW 18 59011148 missense probably null 1.00
R0195:Adamts19 UTSW 18 58969870 splice site probably benign
R0541:Adamts19 UTSW 18 58927300 critical splice donor site probably null
R0659:Adamts19 UTSW 18 59007493 splice site probably benign
R0967:Adamts19 UTSW 18 58972740 nonsense probably null
R1512:Adamts19 UTSW 18 59048845 missense possibly damaging 0.89
R1536:Adamts19 UTSW 18 59052615 missense probably damaging 1.00
R1582:Adamts19 UTSW 18 58969941 missense probably damaging 0.98
R1629:Adamts19 UTSW 18 58954619 missense probably damaging 0.97
R1653:Adamts19 UTSW 18 58890293 missense probably benign 0.00
R1718:Adamts19 UTSW 18 58972825 missense probably damaging 1.00
R1733:Adamts19 UTSW 18 59031929 missense probably damaging 1.00
R1753:Adamts19 UTSW 18 59007372 missense possibly damaging 0.78
R1776:Adamts19 UTSW 18 58954620 missense probably damaging 1.00
R1905:Adamts19 UTSW 18 59032945 missense possibly damaging 0.92
R1958:Adamts19 UTSW 18 58970006 missense probably benign 0.09
R1994:Adamts19 UTSW 18 58972831 critical splice donor site probably null
R2177:Adamts19 UTSW 18 58954554 missense possibly damaging 0.66
R3730:Adamts19 UTSW 18 58900910 missense probably damaging 1.00
R4342:Adamts19 UTSW 18 58942500 missense probably damaging 1.00
R4772:Adamts19 UTSW 18 58837776 missense possibly damaging 0.85
R4822:Adamts19 UTSW 18 58890284 missense probably damaging 1.00
R4891:Adamts19 UTSW 18 59033000 missense probably damaging 1.00
R5112:Adamts19 UTSW 18 59031804 nonsense probably null
R5116:Adamts19 UTSW 18 58902994 missense possibly damaging 0.52
R5205:Adamts19 UTSW 18 58968808 missense probably damaging 1.00
R5765:Adamts19 UTSW 18 59052582 missense probably damaging 1.00
R5781:Adamts19 UTSW 18 58837968 missense possibly damaging 0.59
R5792:Adamts19 UTSW 18 58837512 missense possibly damaging 0.49
R6082:Adamts19 UTSW 18 58968774 missense probably benign 0.18
R6088:Adamts19 UTSW 18 58902102 missense probably damaging 1.00
R7060:Adamts19 UTSW 18 58837640 nonsense probably null
R7251:Adamts19 UTSW 18 58837902 missense probably damaging 1.00
R7295:Adamts19 UTSW 18 58837883 missense probably damaging 1.00
Z1177:Adamts19 UTSW 18 58838075 missense not run
Z1177:Adamts19 UTSW 18 58890374 missense not run
Posted On2015-04-16