Incidental Mutation 'R6169:Adamts16'
ID 490335
Institutional Source Beutler Lab
Gene Symbol Adamts16
Ensembl Gene ENSMUSG00000049538
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 16
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6169 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 70875921-70989930 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 70918393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 676 (L676*)
Ref Sequence ENSEMBL: ENSMUSP00000105316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080145] [ENSMUST00000109694] [ENSMUST00000123552]
AlphaFold Q69Z28
Predicted Effect probably null
Transcript: ENSMUST00000080145
AA Change: L676*
SMART Domains Protein: ENSMUSP00000079041
Gene: ENSMUSG00000049538
AA Change: L676*

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
AA Change: L676*
SMART Domains Protein: ENSMUSP00000105316
Gene: ENSMUSG00000049538
AA Change: L676*

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 silent
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 0.9713 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 94% (67/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C A 11: 3,888,005 (GRCm39) C127F unknown Het
9930111J21Rik2 A T 11: 48,910,088 (GRCm39) probably null Het
Adgrv1 A T 13: 81,567,378 (GRCm39) V5265E probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Akap6 T A 12: 53,189,141 (GRCm39) M2185K probably benign Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Ankrd50 A G 3: 38,509,988 (GRCm39) V793A probably damaging Het
Arid2 T A 15: 96,266,558 (GRCm39) N535K probably benign Het
Atrnl1 A G 19: 57,630,895 (GRCm39) T221A probably benign Het
Bbof1 C T 12: 84,473,588 (GRCm39) T306I probably benign Het
Cabs1 C T 5: 88,127,613 (GRCm39) T88I possibly damaging Het
Ccdc60 C A 5: 116,275,131 (GRCm39) A351S probably benign Het
Cetn3 A C 13: 81,940,097 (GRCm39) R44S probably damaging Het
Cluap1 A G 16: 3,746,425 (GRCm39) K262R possibly damaging Het
Cnrip1 G A 11: 17,004,731 (GRCm39) V94I probably null Het
Cog6 A T 3: 52,914,722 (GRCm39) S245T probably benign Het
Disp2 T A 2: 118,622,031 (GRCm39) V921D probably damaging Het
Entrep2 G A 7: 64,409,147 (GRCm39) P416S probably benign Het
Ep400 T C 5: 110,889,863 (GRCm39) K504E possibly damaging Het
Fbn1 T A 2: 125,177,409 (GRCm39) probably null Het
Fyb2 T C 4: 104,857,713 (GRCm39) V630A probably benign Het
Gm43218 T A 6: 70,217,606 (GRCm39) Y50F probably benign Het
Gm5431 T C 11: 48,779,402 (GRCm39) T507A probably benign Het
Gucy2e G T 11: 69,126,930 (GRCm39) A181E probably benign Het
Hrnr C G 3: 93,233,062 (GRCm39) S1100* probably null Het
Htt T C 5: 35,064,817 (GRCm39) V3010A probably damaging Het
Ighv1-11 T C 12: 114,575,918 (GRCm39) Y99C probably damaging Het
Ighv1-12 T C 12: 114,579,577 (GRCm39) K25E possibly damaging Het
Il6ra A G 3: 89,778,598 (GRCm39) F417S probably benign Het
Itgb4 T C 11: 115,885,102 (GRCm39) S994P probably damaging Het
Itgbl1 G A 14: 123,897,790 (GRCm39) A24T probably benign Het
Itpr1 T C 6: 108,346,077 (GRCm39) F127L probably damaging Het
Itprid2 T G 2: 79,475,406 (GRCm39) I455R probably damaging Het
Krt86 A G 15: 101,374,170 (GRCm39) Y243C probably damaging Het
Lnx1 A T 5: 74,838,230 (GRCm39) W11R probably damaging Het
Mast4 A G 13: 102,923,929 (GRCm39) L302P probably damaging Het
Mettl3 A G 14: 52,536,214 (GRCm39) V210A possibly damaging Het
Mllt1 T C 17: 57,206,822 (GRCm39) T341A probably benign Het
Obscn T C 11: 58,891,325 (GRCm39) E7069G unknown Het
Or1e27-ps1 A T 11: 73,556,160 (GRCm39) T242S possibly damaging Het
Or52b4 T C 7: 102,184,479 (GRCm39) I175T probably benign Het
Osgep A G 14: 51,157,209 (GRCm39) V11A possibly damaging Het
Oxld1 G A 11: 120,347,675 (GRCm39) A174V possibly damaging Het
Pibf1 A T 14: 99,350,443 (GRCm39) E197V probably null Het
Pkn1 G A 8: 84,407,835 (GRCm39) Q425* probably null Het
Pramel22 T C 4: 143,380,685 (GRCm39) Y446C probably benign Het
Prss35 T C 9: 86,637,491 (GRCm39) I87T probably benign Het
Psmc3 T C 2: 90,888,184 (GRCm39) F304S probably damaging Het
Psmd11 T A 11: 80,351,539 (GRCm39) M254K probably damaging Het
Ralgapa2 T C 2: 146,292,385 (GRCm39) Y218C probably damaging Het
Sec23b C T 2: 144,428,894 (GRCm39) R701C probably damaging Het
Slc22a21 A G 11: 53,848,913 (GRCm39) S280P probably damaging Het
Slc39a12 T C 2: 14,405,044 (GRCm39) I212T possibly damaging Het
Slc7a12 T C 3: 14,562,388 (GRCm39) V255A probably damaging Het
Smc3 T A 19: 53,622,517 (GRCm39) N697K probably benign Het
Snai1 C A 2: 167,380,831 (GRCm39) P108Q probably benign Het
Stim2 T G 5: 54,276,021 (GRCm39) L732R probably damaging Het
Syde1 A G 10: 78,421,938 (GRCm39) L597S probably damaging Het
Tcte1 T A 17: 45,845,996 (GRCm39) M200K probably benign Het
Tenm2 T A 11: 36,030,517 (GRCm39) T761S probably damaging Het
Thoc2l T A 5: 104,666,262 (GRCm39) N261K probably benign Het
Tlr2 C A 3: 83,745,455 (GRCm39) E209D probably benign Het
Tpp2 T C 1: 44,022,739 (GRCm39) L33P probably damaging Het
Trmt1l C A 1: 151,304,704 (GRCm39) probably benign Het
Unc45a A C 7: 79,978,511 (GRCm39) S646A possibly damaging Het
Usp37 A T 1: 74,534,910 (GRCm39) I12N probably damaging Het
Vmn2r81 T C 10: 79,104,382 (GRCm39) V335A probably benign Het
Wwc2 A T 8: 48,311,878 (GRCm39) S762T unknown Het
Yeats2 A G 16: 20,038,417 (GRCm39) K129E probably damaging Het
Zscan4-ps2 T C 7: 11,251,558 (GRCm39) V198A probably benign 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
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
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'- AGGGCTCCTTTCATATGTCTG -3'
(R):5'- AGGTCCATAATGGTCTCCCAC -3'

Sequencing Primer
(F):5'- GGATGCCTGGCACAAAGC -3'
(R):5'- CACTGTGAGTTCAAAGACAGCCTG -3'
Posted On 2017-10-10