Incidental Mutation 'R0734:Adamts16'
ID 68171
Institutional Source Beutler Lab
Gene Symbol Adamts16
Ensembl Gene ENSMUSG00000049538
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 16
Synonyms
MMRRC Submission 038915-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0734 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 70875921-70989930 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 70886600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080145] [ENSMUST00000080145] [ENSMUST00000123552]
AlphaFold Q69Z28
Predicted Effect probably benign
Transcript: ENSMUST00000080145
SMART Domains Protein: ENSMUSP00000079041
Gene: ENSMUSG00000049538

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 26 36 N/A INTRINSIC
Pfam:Pep_M12B_propep 57 203 7.8e-34 PFAM
Pfam:Reprolysin_5 287 470 2.9e-13 PFAM
Pfam:Reprolysin_4 289 489 1.2e-8 PFAM
Pfam:Reprolysin 289 493 5.4e-32 PFAM
Pfam:Reprolysin_2 306 483 3.7e-10 PFAM
Pfam:Reprolysin_3 310 442 6.4e-11 PFAM
TSP1 587 639 1.43e-14 SMART
Pfam:ADAM_spacer1 744 856 1.3e-37 PFAM
TSP1 872 926 3.48e0 SMART
TSP1 928 985 4.84e-3 SMART
TSP1 987 1046 1.49e-3 SMART
TSP1 1052 1113 3.19e-2 SMART
TSP1 1127 1179 7.68e-6 SMART
Pfam:PLAC 1188 1218 2.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080145
SMART Domains Protein: ENSMUSP00000079041
Gene: ENSMUSG00000049538

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 26 36 N/A INTRINSIC
Pfam:Pep_M12B_propep 57 203 7.8e-34 PFAM
Pfam:Reprolysin_5 287 470 2.9e-13 PFAM
Pfam:Reprolysin_4 289 489 1.2e-8 PFAM
Pfam:Reprolysin 289 493 5.4e-32 PFAM
Pfam:Reprolysin_2 306 483 3.7e-10 PFAM
Pfam:Reprolysin_3 310 442 6.4e-11 PFAM
TSP1 587 639 1.43e-14 SMART
Pfam:ADAM_spacer1 744 856 1.3e-37 PFAM
TSP1 872 926 3.48e0 SMART
TSP1 928 985 4.84e-3 SMART
TSP1 987 1046 1.49e-3 SMART
TSP1 1052 1113 3.19e-2 SMART
TSP1 1127 1179 7.68e-6 SMART
Pfam:PLAC 1188 1218 2.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123552
SMART Domains Protein: ENSMUSP00000122031
Gene: ENSMUSG00000049538

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 26 36 N/A INTRINSIC
Pfam:Pep_M12B_propep 56 203 5.9e-33 PFAM
Pfam:Reprolysin_5 287 470 5.1e-14 PFAM
Pfam:Reprolysin_4 289 489 2.2e-9 PFAM
Pfam:Reprolysin 289 493 1.2e-33 PFAM
Pfam:Reprolysin_2 306 483 1.2e-10 PFAM
Pfam:Reprolysin_3 310 442 9.7e-11 PFAM
TSP1 587 639 1.43e-14 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 93.3%
Validation Efficiency 99% (80/81)
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 co-expressed with the Wilms tumor protein, Wt1, in the developing glomeruli of embryonic kidneys. The encoded preproprotein undergoes proteolytic processing to generate an active enzyme. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,668,198 (GRCm39) S530T probably benign Het
Acer2 G T 4: 86,835,796 (GRCm39) K223N probably benign Het
Adam19 T G 11: 46,018,230 (GRCm39) C431G probably damaging Het
Aox1 A T 1: 58,344,500 (GRCm39) E531V probably benign Het
Apaf1 A T 10: 90,872,883 (GRCm39) N720K probably benign Het
Atrnl1 T A 19: 57,643,293 (GRCm39) W394R probably damaging Het
Bcl6 T C 16: 23,786,889 (GRCm39) E634G probably damaging Het
Cfap65 T A 1: 74,958,046 (GRCm39) Y954F probably damaging Het
Cobl A G 11: 12,325,971 (GRCm39) V168A probably damaging Het
Cped1 C T 6: 22,085,040 (GRCm39) P210S probably damaging Het
Crb1 C T 1: 139,264,822 (GRCm39) V199M probably benign Het
Cyp2j6 A T 4: 96,412,081 (GRCm39) probably benign Het
Dhrs3 C G 4: 144,653,746 (GRCm39) S289W probably damaging Het
Dido1 T G 2: 180,301,835 (GRCm39) Q2023P probably benign Het
Dlg4 G A 11: 69,933,531 (GRCm39) G550R probably damaging Het
Dnah12 C A 14: 26,521,970 (GRCm39) H1928N probably benign Het
Dthd1 A C 5: 62,996,753 (GRCm39) probably benign Het
Erg C A 16: 95,170,884 (GRCm39) G269C possibly damaging Het
Erich6 G A 3: 58,536,809 (GRCm39) probably benign Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fancc T C 13: 63,479,656 (GRCm39) R300G probably damaging Het
Fcer1g T A 1: 171,058,748 (GRCm39) K47* probably null Het
Flt4 A G 11: 49,517,544 (GRCm39) T289A possibly damaging Het
Gcnt2 T A 13: 41,013,997 (GRCm39) F56Y probably benign Het
Gpatch8 G T 11: 102,372,226 (GRCm39) S437R unknown Het
Grin2a T A 16: 9,397,475 (GRCm39) I871F possibly damaging Het
Hsd17b4 T C 18: 50,303,844 (GRCm39) V439A possibly damaging Het
Hykk A T 9: 54,853,716 (GRCm39) K346M possibly damaging Het
Ifi208 T C 1: 173,510,901 (GRCm39) L352S probably damaging Het
Ikzf1 T C 11: 11,708,195 (GRCm39) V110A probably damaging Het
Irak3 A T 10: 119,981,542 (GRCm39) probably benign Het
Lamp5 T A 2: 135,900,950 (GRCm39) V50E probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrch3 C T 16: 32,817,853 (GRCm39) R570* probably null Het
Map1lc3a T C 2: 155,118,896 (GRCm39) V20A possibly damaging Het
Map3k14 C A 11: 103,117,826 (GRCm39) K655N probably benign Het
Mark2 A G 19: 7,263,346 (GRCm39) probably benign Het
Mbtd1 G A 11: 93,813,972 (GRCm39) G205D probably damaging Het
Med13 T C 11: 86,192,063 (GRCm39) T861A probably benign Het
Meltf T A 16: 31,700,776 (GRCm39) Y99N probably damaging Het
Mex3d G A 10: 80,217,366 (GRCm39) T617I possibly damaging Het
Muc13 G A 16: 33,623,452 (GRCm39) V249I probably damaging Het
Myo18a C A 11: 77,738,230 (GRCm39) P1688Q probably damaging Het
Naaladl1 A T 19: 6,162,904 (GRCm39) probably null Het
Ncoa3 T A 2: 165,911,111 (GRCm39) probably benign Het
Nf2 T C 11: 4,770,409 (GRCm39) T67A probably benign Het
Nin A G 12: 70,076,887 (GRCm39) V1056A probably benign Het
Or1p1 A T 11: 74,179,772 (GRCm39) Q100L probably damaging Het
Or4d10c T A 19: 12,065,483 (GRCm39) R224S probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
P3h1 T C 4: 119,095,885 (GRCm39) L331P probably damaging Het
Pabpc4l T C 3: 46,401,408 (GRCm39) K79E possibly damaging Het
Pam T A 1: 97,792,087 (GRCm39) R445* probably null Het
Pcdhb6 T C 18: 37,468,387 (GRCm39) I436T probably damaging Het
Piezo2 A G 18: 63,174,794 (GRCm39) Y1987H probably damaging Het
Plch2 G A 4: 155,080,740 (GRCm39) T477I probably damaging Het
Postn G A 3: 54,270,136 (GRCm39) G72R probably damaging Het
Proca1 G A 11: 78,092,628 (GRCm39) probably benign Het
Psip1 T A 4: 83,381,825 (GRCm39) probably benign Het
Ptprd G A 4: 76,058,834 (GRCm39) P153L probably damaging Het
Rgl1 T C 1: 152,430,051 (GRCm39) D242G probably damaging Het
Ric1 T A 19: 29,572,218 (GRCm39) I671K possibly damaging Het
Rxrg T A 1: 167,455,013 (GRCm39) C199S probably damaging Het
Sec24c A C 14: 20,743,813 (GRCm39) D1006A probably damaging Het
Sec63 A G 10: 42,672,204 (GRCm39) T173A probably benign Het
Sfxn5 T C 6: 85,244,847 (GRCm39) probably benign Het
Spam1 A G 6: 24,796,948 (GRCm39) I300V probably benign Het
Spem1 A G 11: 69,712,097 (GRCm39) L189P probably damaging Het
Sptbn2 A T 19: 4,798,151 (GRCm39) R1959* probably null Het
Timeless C T 10: 128,085,929 (GRCm39) R935W probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trim24 T C 6: 37,896,400 (GRCm39) Y286H possibly damaging Het
Ttyh2 A G 11: 114,601,019 (GRCm39) probably benign Het
Zbtb21 C T 16: 97,753,827 (GRCm39) C180Y probably damaging Het
Zfp746 T C 6: 48,041,833 (GRCm39) T298A probably damaging Het
Other mutations in Adamts16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Adamts16 APN 13 70,943,603 (GRCm39) missense probably benign 0.01
IGL01338:Adamts16 APN 13 70,984,234 (GRCm39) missense probably damaging 1.00
IGL01663:Adamts16 APN 13 70,941,260 (GRCm39) missense probably benign 0.01
IGL01804:Adamts16 APN 13 70,949,080 (GRCm39) nonsense probably null
IGL01874:Adamts16 APN 13 70,916,823 (GRCm39) missense possibly damaging 0.79
IGL01984:Adamts16 APN 13 70,935,266 (GRCm39) missense probably damaging 1.00
IGL02305:Adamts16 APN 13 70,921,048 (GRCm39) missense probably damaging 1.00
IGL02350:Adamts16 APN 13 70,886,704 (GRCm39) missense probably benign 0.00
IGL02357:Adamts16 APN 13 70,886,704 (GRCm39) missense probably benign 0.00
IGL02429:Adamts16 APN 13 70,935,289 (GRCm39) splice site probably benign
IGL02450:Adamts16 APN 13 70,984,419 (GRCm39) missense probably damaging 0.97
IGL02807:Adamts16 APN 13 70,886,897 (GRCm39) critical splice donor site probably null
IGL03356:Adamts16 APN 13 70,901,410 (GRCm39) missense probably benign 0.00
swap UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
switcheroo UTSW 13 70,949,073 (GRCm39) missense probably benign
R0046:Adamts16 UTSW 13 70,911,579 (GRCm39) missense probably benign 0.00
R0046:Adamts16 UTSW 13 70,911,579 (GRCm39) missense probably benign 0.00
R0201:Adamts16 UTSW 13 70,927,763 (GRCm39) missense possibly damaging 0.69
R0326:Adamts16 UTSW 13 70,927,730 (GRCm39) missense possibly damaging 0.89
R0336:Adamts16 UTSW 13 70,939,913 (GRCm39) critical splice donor site probably benign
R0369:Adamts16 UTSW 13 70,927,671 (GRCm39) missense possibly damaging 0.94
R0422:Adamts16 UTSW 13 70,887,074 (GRCm39) missense probably damaging 1.00
R0507:Adamts16 UTSW 13 70,916,766 (GRCm39) missense probably benign
R0524:Adamts16 UTSW 13 70,949,013 (GRCm39) missense probably benign 0.00
R0590:Adamts16 UTSW 13 70,949,073 (GRCm39) missense probably benign
R0787:Adamts16 UTSW 13 70,886,948 (GRCm39) missense probably damaging 1.00
R0826:Adamts16 UTSW 13 70,916,811 (GRCm39) missense possibly damaging 0.64
R0920:Adamts16 UTSW 13 70,911,680 (GRCm39) splice site probably benign
R1027:Adamts16 UTSW 13 70,915,921 (GRCm39) missense probably damaging 1.00
R1462:Adamts16 UTSW 13 70,984,253 (GRCm39) missense probably benign 0.00
R1462:Adamts16 UTSW 13 70,984,253 (GRCm39) missense probably benign 0.00
R1535:Adamts16 UTSW 13 70,939,913 (GRCm39) critical splice donor site probably null
R1617:Adamts16 UTSW 13 70,946,154 (GRCm39) missense probably benign 0.09
R1700:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R1734:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R1736:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R1737:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R1738:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R1746:Adamts16 UTSW 13 70,927,717 (GRCm39) splice site probably null
R1869:Adamts16 UTSW 13 70,883,866 (GRCm39) missense probably damaging 1.00
R1944:Adamts16 UTSW 13 70,940,005 (GRCm39) missense possibly damaging 0.93
R1997:Adamts16 UTSW 13 70,901,386 (GRCm39) missense probably benign 0.39
R2018:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R2135:Adamts16 UTSW 13 70,949,126 (GRCm39) missense probably damaging 1.00
R2219:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R2228:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R3410:Adamts16 UTSW 13 70,901,345 (GRCm39) missense probably benign 0.00
R3411:Adamts16 UTSW 13 70,901,345 (GRCm39) missense probably benign 0.00
R3842:Adamts16 UTSW 13 70,887,010 (GRCm39) missense possibly damaging 0.92
R4117:Adamts16 UTSW 13 70,916,111 (GRCm39) missense probably benign 0.01
R4435:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4436:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4526:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4552:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4555:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4556:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4557:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4579:Adamts16 UTSW 13 70,927,743 (GRCm39) missense probably damaging 1.00
R4639:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4640:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4641:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4642:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R4672:Adamts16 UTSW 13 70,927,637 (GRCm39) critical splice donor site probably benign
R5350:Adamts16 UTSW 13 70,901,315 (GRCm39) nonsense probably null
R5464:Adamts16 UTSW 13 70,909,868 (GRCm39) missense probably benign 0.01
R5613:Adamts16 UTSW 13 70,878,253 (GRCm39) missense probably benign 0.01
R5667:Adamts16 UTSW 13 70,984,494 (GRCm39) nonsense probably null
R5735:Adamts16 UTSW 13 70,984,337 (GRCm39) missense possibly damaging 0.94
R5762:Adamts16 UTSW 13 70,886,617 (GRCm39) missense probably damaging 1.00
R5907:Adamts16 UTSW 13 70,877,029 (GRCm39) missense probably damaging 1.00
R6169:Adamts16 UTSW 13 70,918,393 (GRCm39) nonsense probably null
R6351:Adamts16 UTSW 13 70,984,322 (GRCm39) missense probably damaging 1.00
R6665:Adamts16 UTSW 13 70,927,689 (GRCm39) missense probably damaging 1.00
R6913:Adamts16 UTSW 13 70,877,017 (GRCm39) missense possibly damaging 0.94
R6982:Adamts16 UTSW 13 70,916,639 (GRCm39) splice site probably null
R6996:Adamts16 UTSW 13 70,946,157 (GRCm39) critical splice acceptor site probably null
R7313:Adamts16 UTSW 13 70,921,074 (GRCm39) nonsense probably null
R7356:Adamts16 UTSW 13 70,984,399 (GRCm39) missense probably benign 0.03
R7509:Adamts16 UTSW 13 70,935,283 (GRCm39) missense probably damaging 1.00
R7595:Adamts16 UTSW 13 70,878,234 (GRCm39) missense probably damaging 1.00
R7782:Adamts16 UTSW 13 70,984,265 (GRCm39) missense probably damaging 0.97
R7968:Adamts16 UTSW 13 70,886,701 (GRCm39) missense probably benign
R8231:Adamts16 UTSW 13 70,925,599 (GRCm39) missense probably damaging 0.99
R8232:Adamts16 UTSW 13 70,941,217 (GRCm39) missense probably damaging 1.00
R8470:Adamts16 UTSW 13 70,984,496 (GRCm39) missense probably damaging 1.00
R8485:Adamts16 UTSW 13 70,886,794 (GRCm39) missense possibly damaging 0.89
R8772:Adamts16 UTSW 13 70,984,453 (GRCm39) missense probably damaging 1.00
R8916:Adamts16 UTSW 13 70,941,307 (GRCm39) missense probably damaging 1.00
R8921:Adamts16 UTSW 13 70,939,910 (GRCm39) splice site probably benign
R8973:Adamts16 UTSW 13 70,886,959 (GRCm39) missense probably benign 0.00
R9132:Adamts16 UTSW 13 70,901,408 (GRCm39) missense probably benign 0.39
R9149:Adamts16 UTSW 13 70,883,948 (GRCm39) missense probably damaging 1.00
R9159:Adamts16 UTSW 13 70,901,408 (GRCm39) missense probably benign 0.39
R9312:Adamts16 UTSW 13 70,949,045 (GRCm39) missense probably damaging 1.00
R9584:Adamts16 UTSW 13 70,949,136 (GRCm39) missense probably damaging 1.00
Z1176:Adamts16 UTSW 13 70,909,892 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCCCAAGGCTTGATAAAGGCTAC -3'
(R):5'- GCTCTCTTATGCAGTGCTCAAGGAC -3'

Sequencing Primer
(F):5'- GGCTTGATAAAGGCTACCGATATTC -3'
(R):5'- CAGTGCTCAAGGACCTGTG -3'
Posted On 2013-09-03