Incidental Mutation 'R1535:Adamts16'
ID 166915
Institutional Source Beutler Lab
Gene Symbol Adamts16
Ensembl Gene ENSMUSG00000049538
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 16
Synonyms
MMRRC Submission 039574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1535 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 70875921-70989930 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 70939913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080145] [ENSMUST00000109694] [ENSMUST00000123552]
AlphaFold Q69Z28
Predicted Effect probably null
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 null
Transcript: ENSMUST00000109694
SMART Domains Protein: ENSMUSP00000105316
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 2.2e-32 PFAM
Pfam:Reprolysin_5 287 470 1.8e-13 PFAM
Pfam:Reprolysin_4 289 489 7.3e-9 PFAM
Pfam:Reprolysin 289 493 4.6e-33 PFAM
Pfam:Reprolysin_2 306 483 4.1e-10 PFAM
Pfam:Reprolysin_3 310 442 3.3e-10 PFAM
TSP1 587 639 1.43e-14 SMART
Pfam:ADAM_spacer1 744 856 1.3e-37 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.2%
Validation Efficiency 100% (75/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,099,203 (GRCm39) S99P possibly damaging Het
Abca16 T A 7: 120,139,928 (GRCm39) I1530N probably benign Het
Abcc9 T G 6: 142,610,361 (GRCm39) Q601P probably damaging Het
Acap3 A G 4: 155,980,631 (GRCm39) probably benign Het
Alpk2 G C 18: 65,483,275 (GRCm39) S244R probably benign Het
Aoc1l1 T C 6: 48,952,398 (GRCm39) F108L probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Bend5 C A 4: 111,316,960 (GRCm39) D374E probably benign Het
Catsperg2 T C 7: 29,397,671 (GRCm39) D1014G possibly damaging Het
Ccer2 G T 7: 28,456,822 (GRCm39) G189* probably null Het
Ces2h A G 8: 105,741,118 (GRCm39) T37A probably benign Het
Cfap68 C T 9: 50,675,307 (GRCm39) R40Q probably damaging Het
Cmah T C 13: 24,623,203 (GRCm39) F213L probably damaging Het
Cntn2 T C 1: 132,453,122 (GRCm39) E390G probably benign Het
Coq7 C T 7: 118,128,897 (GRCm39) R46Q possibly damaging Het
Cpb1 T A 3: 20,320,451 (GRCm39) D136V probably benign Het
Cxcr2 T C 1: 74,198,217 (GRCm39) L237P probably damaging Het
Daam1 T C 12: 71,998,692 (GRCm39) L549P unknown Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dis3 G T 14: 99,316,862 (GRCm39) Q825K probably damaging Het
Dnah11 C T 12: 117,982,465 (GRCm39) R2568Q probably damaging Het
Dnah12 A T 14: 26,538,279 (GRCm39) R2312S possibly damaging Het
Dock9 C T 14: 121,783,476 (GRCm39) E2041K probably damaging Het
Eci1 A G 17: 24,658,064 (GRCm39) E282G probably benign Het
Egf T A 3: 129,484,427 (GRCm39) T464S probably benign Het
Eif4g3 C T 4: 137,824,613 (GRCm39) P97S probably damaging Het
Emsy A G 7: 98,242,944 (GRCm39) V1065A possibly damaging Het
Ep400 G T 5: 110,856,032 (GRCm39) probably benign Het
Fam13a A C 6: 58,916,332 (GRCm39) I607S probably damaging Het
Fam241b A G 10: 61,944,728 (GRCm39) S113P probably damaging Het
Fbxl21 A T 13: 56,671,340 (GRCm39) M1L probably benign Het
Fnip2 C A 3: 79,389,072 (GRCm39) C553F probably damaging Het
Frmd3 G T 4: 73,931,995 (GRCm39) probably benign Het
Grm4 G A 17: 27,653,775 (GRCm39) S470L probably benign Het
Gucy2e T A 11: 69,117,070 (GRCm39) I784F probably damaging Het
H1f10 T C 6: 87,958,130 (GRCm39) Y70C probably damaging Het
Hmcn2 A T 2: 31,310,419 (GRCm39) T3338S possibly damaging Het
Idh1 C T 1: 65,207,697 (GRCm39) G161R probably damaging Het
Idi1 T C 13: 8,936,945 (GRCm39) probably benign Het
Idi2l A T 13: 8,990,680 (GRCm39) probably benign Het
Kcnq2 C T 2: 180,776,618 (GRCm39) G90S probably damaging Het
Klhl29 A G 12: 5,134,486 (GRCm39) Y642H probably damaging Het
Lmtk3 T A 7: 45,443,994 (GRCm39) probably benign Het
Macf1 A T 4: 123,334,486 (GRCm39) F4420I probably benign Het
Me1 A G 9: 86,469,096 (GRCm39) S470P probably damaging Het
Mfsd2b A G 12: 4,920,605 (GRCm39) S71P probably damaging Het
Mfsd3 T C 15: 76,586,979 (GRCm39) L273P probably damaging Het
Mical1 A G 10: 41,361,207 (GRCm39) K757R possibly damaging Het
Myh9 A T 15: 77,662,013 (GRCm39) V782D probably damaging Het
Nab2 C G 10: 127,500,916 (GRCm39) E59Q probably damaging Het
Nfyc A T 4: 120,618,921 (GRCm39) N244K probably damaging Het
Nupr2 A G 5: 129,937,672 (GRCm39) I80M probably damaging Het
Or4c15b T C 2: 89,113,401 (GRCm39) I46M probably benign Het
Or51f1d A G 7: 102,700,576 (GRCm39) T24A probably benign Het
Or5a1 A G 19: 12,097,696 (GRCm39) C115R probably damaging Het
Pkn3 A G 2: 29,977,065 (GRCm39) T602A probably benign Het
Prrc2b T A 2: 32,094,301 (GRCm39) V561D probably benign Het
Psd2 T A 18: 36,138,843 (GRCm39) V489E probably benign Het
Rasal2 T C 1: 157,057,629 (GRCm39) T181A probably benign Het
Serpinb13 T C 1: 106,909,886 (GRCm39) M1T probably null Het
Sgsm1 A T 5: 113,411,135 (GRCm39) S864T possibly damaging Het
Slc5a10 C A 11: 61,564,767 (GRCm39) G404V possibly damaging Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Son A G 16: 91,456,622 (GRCm39) K1790E probably damaging Het
Spata31e5 T C 1: 28,816,505 (GRCm39) E509G probably damaging Het
Syde2 A G 3: 145,708,176 (GRCm39) probably benign Het
Tmem126a T C 7: 90,102,026 (GRCm39) I58V probably benign Het
Vmn2r8 T C 5: 108,950,040 (GRCm39) Y269C probably damaging Het
Wdr87-ps C T 7: 29,229,004 (GRCm39) noncoding transcript Het
Yeats2 T A 16: 20,008,115 (GRCm39) S416T probably damaging Het
Zfp40 A T 17: 23,394,843 (GRCm39) H513Q 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
R0734:Adamts16 UTSW 13 70,886,600 (GRCm39) splice site 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
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'- TGTGAGCAAAACTCCAGAGCAGC -3'
(R):5'- GCTTGTTTATCGCAAGGCAGAGTCC -3'

Sequencing Primer
(F):5'- CTACCATTGACAAGAAGACTTGTTCC -3'
(R):5'- TTTACATGGCTGCCCAAGAG -3'
Posted On 2014-04-13