Incidental Mutation 'IGL02116:Adamts19'
ID 280386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamts19
Ensembl Gene ENSMUSG00000053441
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 19
Synonyms D230034E10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02116
Quality Score
Status
Chromosome 18
Chromosomal Location 58969739-59187132 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58970571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 52 (S52P)
Ref Sequence ENSEMBL: ENSMUSP00000050535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052907]
AlphaFold P59509
Predicted Effect probably benign
Transcript: ENSMUST00000052907
AA Change: S52P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000050535
Gene: ENSMUSG00000053441
AA Change: S52P

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,981,018 (GRCm39) N190K possibly damaging Het
Ahrr G T 13: 74,368,692 (GRCm39) H160Q possibly damaging Het
Ap4s1 T C 12: 51,769,833 (GRCm39) probably null Het
Atrn T C 2: 130,800,009 (GRCm39) V462A probably damaging Het
D630003M21Rik T C 2: 158,045,130 (GRCm39) S800G possibly damaging Het
Dach1 T G 14: 98,138,859 (GRCm39) N528T probably damaging Het
Foxl2 T C 9: 98,838,111 (GRCm39) M133T probably damaging Het
Grsf1 A G 5: 88,818,033 (GRCm39) probably null Het
Gtpbp4 A G 13: 9,042,772 (GRCm39) I43T probably damaging Het
Helz2 T C 2: 180,873,978 (GRCm39) Y2172C probably damaging Het
Hey1 G T 3: 8,731,640 (GRCm39) probably null Het
Hnrnph3 A T 10: 62,851,855 (GRCm39) probably benign Het
Hps1 A T 19: 42,759,568 (GRCm39) Y81* probably null Het
Inhba A G 13: 16,201,557 (GRCm39) H373R probably benign Het
Leo1 T A 9: 75,356,697 (GRCm39) I359K probably damaging Het
Mcoln3 A G 3: 145,839,664 (GRCm39) N339D probably benign Het
Mrpl19 G A 6: 81,942,758 (GRCm39) P51S probably benign Het
Nadk C A 4: 155,663,763 (GRCm39) probably benign Het
Or5an11 A G 19: 12,246,374 (GRCm39) Y260C probably damaging Het
Or5d39 T A 2: 87,979,632 (GRCm39) T244S probably benign Het
Pappa2 T G 1: 158,672,695 (GRCm39) I1083L probably benign Het
R3hdm2 A G 10: 127,334,421 (GRCm39) D948G probably damaging Het
Rbm15 A T 3: 107,237,596 (GRCm39) L934Q probably damaging Het
Rec8 T A 14: 55,862,336 (GRCm39) probably null Het
Riok1 A G 13: 38,243,932 (GRCm39) E486G possibly damaging Het
Rptn A C 3: 93,302,404 (GRCm39) E40A possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc40a1 T C 1: 45,950,688 (GRCm39) T255A probably benign Het
Slc5a8 A T 10: 88,755,362 (GRCm39) M490L probably benign Het
Sned1 C A 1: 93,209,447 (GRCm39) C62* probably null Het
Sptbn4 T C 7: 27,063,782 (GRCm39) T2215A probably benign Het
Synpo T A 18: 60,736,528 (GRCm39) R234W probably damaging Het
Tmco3 A T 8: 13,342,706 (GRCm39) probably benign Het
Tmprss13 A G 9: 45,244,972 (GRCm39) D250G probably benign Het
Vmn2r31 T A 7: 7,397,548 (GRCm39) I237F probably damaging Het
Wdr90 A G 17: 26,078,466 (GRCm39) V306A probably benign Het
Zfp629 A G 7: 127,211,890 (GRCm39) W8R probably damaging Het
Zim1 T C 7: 6,681,253 (GRCm39) T137A probably benign Het
Other mutations in Adamts19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Adamts19 APN 18 59,157,537 (GRCm39) missense probably damaging 1.00
IGL00331:Adamts19 APN 18 59,140,397 (GRCm39) splice site probably benign
IGL00970:Adamts19 APN 18 59,144,149 (GRCm39) missense possibly damaging 0.82
IGL01328:Adamts19 APN 18 59,181,954 (GRCm39) missense possibly damaging 0.89
IGL01385:Adamts19 APN 18 59,105,851 (GRCm39) missense probably damaging 0.98
IGL01529:Adamts19 APN 18 59,096,535 (GRCm39) missense probably damaging 0.99
IGL01535:Adamts19 APN 18 59,101,891 (GRCm39) missense probably benign 0.00
IGL01557:Adamts19 APN 18 59,101,792 (GRCm39) splice site probably null
IGL01705:Adamts19 APN 18 59,166,038 (GRCm39) missense possibly damaging 0.91
IGL01803:Adamts19 APN 18 59,085,541 (GRCm39) missense probably damaging 1.00
IGL02131:Adamts19 APN 18 59,185,732 (GRCm39) missense probably damaging 1.00
IGL02312:Adamts19 APN 18 59,060,369 (GRCm39) missense probably damaging 1.00
IGL02755:Adamts19 APN 18 59,103,005 (GRCm39) missense probably benign 0.25
IGL02866:Adamts19 APN 18 59,181,914 (GRCm39) missense possibly damaging 0.80
IGL02964:Adamts19 APN 18 59,122,037 (GRCm39) missense probably damaging 1.00
IGL02982:Adamts19 APN 18 59,157,590 (GRCm39) missense probably damaging 1.00
IGL03040:Adamts19 APN 18 59,036,080 (GRCm39) missense probably benign 0.05
R0081:Adamts19 UTSW 18 59,036,137 (GRCm39) critical splice donor site probably null
R0194:Adamts19 UTSW 18 59,144,220 (GRCm39) missense probably null 1.00
R0195:Adamts19 UTSW 18 59,102,942 (GRCm39) splice site probably benign
R0541:Adamts19 UTSW 18 59,060,372 (GRCm39) critical splice donor site probably null
R0659:Adamts19 UTSW 18 59,140,565 (GRCm39) splice site probably benign
R0967:Adamts19 UTSW 18 59,105,812 (GRCm39) nonsense probably null
R1512:Adamts19 UTSW 18 59,181,917 (GRCm39) missense possibly damaging 0.89
R1536:Adamts19 UTSW 18 59,185,687 (GRCm39) missense probably damaging 1.00
R1582:Adamts19 UTSW 18 59,103,013 (GRCm39) missense probably damaging 0.98
R1629:Adamts19 UTSW 18 59,087,691 (GRCm39) missense probably damaging 0.97
R1653:Adamts19 UTSW 18 59,023,365 (GRCm39) missense probably benign 0.00
R1718:Adamts19 UTSW 18 59,105,897 (GRCm39) missense probably damaging 1.00
R1733:Adamts19 UTSW 18 59,165,001 (GRCm39) missense probably damaging 1.00
R1753:Adamts19 UTSW 18 59,140,444 (GRCm39) missense possibly damaging 0.78
R1776:Adamts19 UTSW 18 59,087,692 (GRCm39) missense probably damaging 1.00
R1905:Adamts19 UTSW 18 59,166,017 (GRCm39) missense possibly damaging 0.92
R1958:Adamts19 UTSW 18 59,103,078 (GRCm39) missense probably benign 0.09
R1994:Adamts19 UTSW 18 59,105,903 (GRCm39) critical splice donor site probably null
R2177:Adamts19 UTSW 18 59,087,626 (GRCm39) missense possibly damaging 0.66
R3730:Adamts19 UTSW 18 59,033,982 (GRCm39) missense probably damaging 1.00
R4342:Adamts19 UTSW 18 59,075,572 (GRCm39) missense probably damaging 1.00
R4772:Adamts19 UTSW 18 58,970,848 (GRCm39) missense possibly damaging 0.85
R4822:Adamts19 UTSW 18 59,023,356 (GRCm39) missense probably damaging 1.00
R4891:Adamts19 UTSW 18 59,166,072 (GRCm39) missense probably damaging 1.00
R5112:Adamts19 UTSW 18 59,164,876 (GRCm39) nonsense probably null
R5116:Adamts19 UTSW 18 59,036,066 (GRCm39) missense possibly damaging 0.52
R5205:Adamts19 UTSW 18 59,101,880 (GRCm39) missense probably damaging 1.00
R5765:Adamts19 UTSW 18 59,185,654 (GRCm39) missense probably damaging 1.00
R5781:Adamts19 UTSW 18 58,971,040 (GRCm39) missense possibly damaging 0.59
R5792:Adamts19 UTSW 18 58,970,584 (GRCm39) missense possibly damaging 0.49
R6082:Adamts19 UTSW 18 59,101,846 (GRCm39) missense probably benign 0.18
R6088:Adamts19 UTSW 18 59,035,174 (GRCm39) missense probably damaging 1.00
R7060:Adamts19 UTSW 18 58,970,712 (GRCm39) nonsense probably null
R7251:Adamts19 UTSW 18 58,970,974 (GRCm39) missense probably damaging 1.00
R7295:Adamts19 UTSW 18 58,970,955 (GRCm39) missense probably damaging 1.00
R7974:Adamts19 UTSW 18 59,144,094 (GRCm39) missense possibly damaging 0.72
R7991:Adamts19 UTSW 18 59,185,726 (GRCm39) missense probably damaging 1.00
R8129:Adamts19 UTSW 18 59,140,559 (GRCm39) critical splice donor site probably null
R8297:Adamts19 UTSW 18 58,970,920 (GRCm39) missense probably damaging 1.00
R8336:Adamts19 UTSW 18 59,140,444 (GRCm39) missense possibly damaging 0.78
R8358:Adamts19 UTSW 18 59,181,881 (GRCm39) missense probably damaging 1.00
R8864:Adamts19 UTSW 18 59,023,497 (GRCm39) nonsense probably null
R9051:Adamts19 UTSW 18 59,034,048 (GRCm39) missense probably damaging 1.00
R9253:Adamts19 UTSW 18 59,103,013 (GRCm39) missense probably damaging 0.98
R9423:Adamts19 UTSW 18 59,023,427 (GRCm39) missense possibly damaging 0.89
R9610:Adamts19 UTSW 18 59,023,399 (GRCm39) missense probably benign 0.26
R9611:Adamts19 UTSW 18 59,023,399 (GRCm39) missense probably benign 0.26
R9686:Adamts19 UTSW 18 58,971,093 (GRCm39) missense probably benign 0.00
R9697:Adamts19 UTSW 18 59,101,834 (GRCm39) missense probably damaging 0.99
R9747:Adamts19 UTSW 18 59,023,487 (GRCm39) missense possibly damaging 0.69
Z1177:Adamts19 UTSW 18 59,023,446 (GRCm39) missense possibly damaging 0.47
Z1177:Adamts19 UTSW 18 58,971,147 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16