Incidental Mutation 'R7060:Adamts19'
ID 548229
Institutional Source Beutler Lab
Gene Symbol Adamts19
Ensembl Gene ENSMUSG00000053441
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 19
Synonyms D230034E10Rik
MMRRC Submission 045157-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7060 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 58969739-59187132 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 58970712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 99 (R99*)
Ref Sequence ENSEMBL: ENSMUSP00000050535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052907]
AlphaFold P59509
Predicted Effect probably null
Transcript: ENSMUST00000052907
AA Change: R99*
SMART Domains Protein: ENSMUSP00000050535
Gene: ENSMUSG00000053441
AA Change: R99*

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (78/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,186,425 (GRCm39) T535S probably benign Het
Alg6 C T 4: 99,650,198 (GRCm39) L473F possibly damaging Het
Ankar A T 1: 72,695,272 (GRCm39) N893K probably benign Het
Ankrd54 G A 15: 78,939,739 (GRCm39) A183V possibly damaging Het
Anpep G T 7: 79,491,542 (GRCm39) T153K probably benign Het
Arap1 A G 7: 101,058,564 (GRCm39) probably null Het
Aspg A T 12: 112,089,387 (GRCm39) T392S probably benign Het
B230307C23Rik A C 16: 97,811,331 (GRCm39) R68S probably benign Het
Bdp1 G C 13: 100,196,002 (GRCm39) N1253K probably damaging Het
Ccrl2 G A 9: 110,884,682 (GRCm39) S272F probably damaging Het
Cdon T C 9: 35,398,205 (GRCm39) L974P probably damaging Het
Celsr1 C A 15: 85,916,856 (GRCm39) E372D probably benign Het
Cers1 A T 8: 70,768,555 (GRCm39) M16L possibly damaging Het
Col2a1 G T 15: 97,874,022 (GRCm39) Q1387K unknown Het
Ddx39b G A 17: 35,471,726 (GRCm39) V291M probably damaging Het
Dppa2 T A 16: 48,136,076 (GRCm39) S143T probably benign Het
Dpy19l1 A T 9: 24,334,419 (GRCm39) M583K possibly damaging Het
Eno3 A T 11: 70,552,245 (GRCm39) D299V possibly damaging Het
Epha8 C T 4: 136,658,469 (GRCm39) V969M probably damaging Het
Fcgbp A T 7: 27,791,358 (GRCm39) H873L probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Fntb A C 12: 76,934,649 (GRCm39) N173T possibly damaging Het
Gins2 T A 8: 121,308,880 (GRCm39) M125L probably benign Het
Gys1 G A 7: 45,089,437 (GRCm39) A199T probably damaging Het
Herpud1 C A 8: 95,117,391 (GRCm39) H116N probably benign Het
Hoga1 C A 19: 42,048,685 (GRCm39) Y134* probably null Het
Il10ra A G 9: 45,167,522 (GRCm39) I343T probably benign Het
Inava T C 1: 136,147,935 (GRCm39) K339R possibly damaging Het
Inpp5j C T 11: 3,450,133 (GRCm39) probably null Het
Itpkb T C 1: 180,160,695 (GRCm39) S274P probably damaging Het
Kalrn C T 16: 34,177,418 (GRCm39) C249Y probably damaging Het
Klhl35 G C 7: 99,117,665 (GRCm39) A70P possibly damaging Het
Lhx1 A G 11: 84,411,108 (GRCm39) probably null Het
Lmbrd1 T C 1: 24,732,047 (GRCm39) V88A probably benign Het
Macc1 T G 12: 119,411,190 (GRCm39) L653V probably damaging Het
Madd T C 2: 91,007,452 (GRCm39) D220G probably damaging Het
Mllt10 T A 2: 18,164,371 (GRCm39) H300Q possibly damaging Het
Mlxipl G A 5: 135,161,169 (GRCm39) A363T possibly damaging Het
Mus81 G T 19: 5,537,821 (GRCm39) D78E probably benign Het
Mxd1 A T 6: 86,630,141 (GRCm39) L26M probably damaging Het
Nhsl1 C T 10: 18,402,251 (GRCm39) T1159M probably damaging Het
Nos1ap A G 1: 170,165,694 (GRCm39) S190P possibly damaging Het
Nwd1 A C 8: 73,393,322 (GRCm39) D195A probably damaging Het
Or12d13 G T 17: 37,647,352 (GRCm39) T257N probably benign Het
Or6k4 A T 1: 173,964,376 (GRCm39) D22V probably benign Het
Or8c14-ps1 G A 9: 38,101,392 (GRCm39) V124I probably damaging Het
Or8k24 T A 2: 86,216,569 (GRCm39) R64S possibly damaging Het
Otof T C 5: 30,545,700 (GRCm39) D500G possibly damaging Het
Pcgf5 T A 19: 36,420,339 (GRCm39) Y190* probably null Het
Pdcd11 C T 19: 47,099,418 (GRCm39) T839I probably benign Het
Ppard G C 17: 28,517,886 (GRCm39) S318T probably benign Het
Ppfia2 A G 10: 106,597,970 (GRCm39) K178E probably damaging Het
Ppm1n G T 7: 19,013,187 (GRCm39) R255S probably damaging Het
Ppp1r21 A G 17: 88,887,972 (GRCm39) Y693C probably damaging Het
Ppp2r5d A T 17: 46,998,279 (GRCm39) V169E possibly damaging Het
Prc1 A T 7: 79,954,121 (GRCm39) T53S probably benign Het
Pwp2 A C 10: 78,009,084 (GRCm39) probably null Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Ring1 A G 17: 34,242,364 (GRCm39) C48R probably damaging Het
Rpap1 T C 2: 119,604,043 (GRCm39) D496G probably damaging Het
Rspo4 C A 2: 151,714,998 (GRCm39) Q212K unknown Het
Samd9l T A 6: 3,372,716 (GRCm39) D1515V probably damaging Het
Serinc3 T C 2: 163,478,879 (GRCm39) T83A probably benign Het
Setd5 A C 6: 113,094,343 (GRCm39) D420A probably damaging Het
Sidt2 T C 9: 45,864,544 (GRCm39) T62A possibly damaging Het
Smarcal1 T C 1: 72,652,101 (GRCm39) V621A probably damaging Het
Srcin1 A G 11: 97,464,711 (GRCm39) L12P probably damaging Het
Stx18 G A 5: 38,278,599 (GRCm39) D165N possibly damaging Het
Sumf2 A G 5: 129,883,341 (GRCm39) K139E possibly damaging Het
Tdo2 A T 3: 81,876,866 (GRCm39) I102N probably damaging Het
Tdp1 T A 12: 99,877,947 (GRCm39) S410T probably benign Het
Tmem94 A T 11: 115,683,764 (GRCm39) I726F probably damaging Het
Ttc21a A G 9: 119,795,742 (GRCm39) E1192G probably damaging Het
Ttc8 T C 12: 98,909,726 (GRCm39) I52T probably benign Het
Vmn2r99 A T 17: 19,614,826 (GRCm39) R849* probably null Het
Wwc1 T C 11: 35,806,003 (GRCm39) K77E possibly damaging Het
Xirp2 A T 2: 67,345,952 (GRCm39) E2731V probably damaging Het
Zfp1006 A C 8: 129,945,613 (GRCm39) I404R probably benign Het
Zfp423 G A 8: 88,509,507 (GRCm39) T258I probably damaging 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
IGL02116:Adamts19 APN 18 58,970,571 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GAAGTCGTGTTTCCTGCACTCTG -3'
(R):5'- TCCCGGTGTAAAAGCAGGAG -3'

Sequencing Primer
(F):5'- TCCTGCACTCTGGCGCC -3'
(R):5'- ACCTGGTTTGGGCCACTG -3'
Posted On 2019-05-13