Incidental Mutation 'R0416:Adamts17'
ID 40316
Institutional Source Beutler Lab
Gene Symbol Adamts17
Ensembl Gene ENSMUSG00000058145
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 17
Synonyms AU023434
MMRRC Submission 038618-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R0416 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 66489483-66802919 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 66565646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098382] [ENSMUST00000098382] [ENSMUST00000107478] [ENSMUST00000107478]
AlphaFold E9Q4D1
Predicted Effect probably null
Transcript: ENSMUST00000098382
SMART Domains Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Pep_M12B_propep 35 179 2.9e-25 PFAM
Pfam:Reprolysin_5 228 422 3.1e-15 PFAM
Pfam:Reprolysin_2 248 440 6.1e-13 PFAM
Pfam:Reprolysin_3 252 398 2.2e-12 PFAM
Pfam:Reprolysin_4 328 446 7.1e-10 PFAM
Pfam:Reprolysin 334 450 2e-18 PFAM
Blast:ACR 454 533 3e-12 BLAST
TSP1 544 596 2.2e-15 SMART
Pfam:ADAM_spacer1 698 808 6.4e-30 PFAM
TSP1 829 887 1.81e-1 SMART
TSP1 889 942 1.15e-4 SMART
TSP1 949 993 4.05e-5 SMART
TSP1 1000 1054 2.91e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000098382
SMART Domains Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Pep_M12B_propep 35 179 2.9e-25 PFAM
Pfam:Reprolysin_5 228 422 3.1e-15 PFAM
Pfam:Reprolysin_2 248 440 6.1e-13 PFAM
Pfam:Reprolysin_3 252 398 2.2e-12 PFAM
Pfam:Reprolysin_4 328 446 7.1e-10 PFAM
Pfam:Reprolysin 334 450 2e-18 PFAM
Blast:ACR 454 533 3e-12 BLAST
TSP1 544 596 2.2e-15 SMART
Pfam:ADAM_spacer1 698 808 6.4e-30 PFAM
TSP1 829 887 1.81e-1 SMART
TSP1 889 942 1.15e-4 SMART
TSP1 949 993 4.05e-5 SMART
TSP1 1000 1054 2.91e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000107478
SMART Domains Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Pep_M12B_propep 34 180 3.1e-23 PFAM
Pfam:Reprolysin_5 228 424 3.2e-15 PFAM
Pfam:Reprolysin_2 248 440 5.9e-11 PFAM
Pfam:Reprolysin_3 252 398 6e-12 PFAM
Pfam:Reprolysin_4 328 446 6.8e-10 PFAM
Pfam:Reprolysin 334 450 4.3e-21 PFAM
Blast:ACR 454 533 3e-12 BLAST
TSP1 544 596 2.2e-15 SMART
Pfam:ADAM_spacer1 700 781 2.2e-16 PFAM
TSP1 802 860 1.81e-1 SMART
TSP1 862 915 1.15e-4 SMART
TSP1 922 966 4.05e-5 SMART
TSP1 973 1027 2.91e-6 SMART
Pfam:PLAC 1046 1080 1.1e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000107478
SMART Domains Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Pep_M12B_propep 34 180 3.1e-23 PFAM
Pfam:Reprolysin_5 228 424 3.2e-15 PFAM
Pfam:Reprolysin_2 248 440 5.9e-11 PFAM
Pfam:Reprolysin_3 252 398 6e-12 PFAM
Pfam:Reprolysin_4 328 446 6.8e-10 PFAM
Pfam:Reprolysin 334 450 4.3e-21 PFAM
Blast:ACR 454 533 3e-12 BLAST
TSP1 544 596 2.2e-15 SMART
Pfam:ADAM_spacer1 700 781 2.2e-16 PFAM
TSP1 802 860 1.81e-1 SMART
TSP1 862 915 1.15e-4 SMART
TSP1 922 966 4.05e-5 SMART
TSP1 973 1027 2.91e-6 SMART
Pfam:PLAC 1046 1080 1.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147880
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156396
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 91.8%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]
Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,162,779 (GRCm39) I18V probably benign Het
Adamdec1 T G 14: 68,806,161 (GRCm39) E438A possibly damaging Het
Ankrd44 T G 1: 54,782,498 (GRCm39) I359L possibly damaging Het
Ap2s1 C A 7: 16,481,290 (GRCm39) N86K probably damaging Het
Arih1 T A 9: 59,333,993 (GRCm39) probably benign Het
Astn1 T A 1: 158,337,461 (GRCm39) I389N probably damaging Het
Brca2 T C 5: 150,492,857 (GRCm39) S3291P possibly damaging Het
Cacna1d T C 14: 29,822,645 (GRCm39) probably benign Het
Ccl7 C A 11: 81,936,692 (GRCm39) probably benign Het
Cd74 A T 18: 60,944,486 (GRCm39) Y232F possibly damaging Het
Cep128 A G 12: 91,197,641 (GRCm39) probably benign Het
Cep89 T A 7: 35,115,827 (GRCm39) probably benign Het
Cmya5 T G 13: 93,226,364 (GRCm39) N2908T probably benign Het
Coil T C 11: 88,872,812 (GRCm39) L391S possibly damaging Het
Cpd C T 11: 76,676,030 (GRCm39) V1208I probably benign Het
Ddx19a T C 8: 111,705,689 (GRCm39) D254G probably damaging Het
Desi2 T A 1: 178,083,887 (GRCm39) probably benign Het
Dnah11 A T 12: 117,874,793 (GRCm39) M4024K probably damaging Het
Ergic2 A T 6: 148,084,642 (GRCm39) L53H probably damaging Het
Etv2 T C 7: 30,334,058 (GRCm39) Y225C probably benign Het
F10 G A 8: 13,105,448 (GRCm39) A338T probably damaging Het
Fam228b T A 12: 4,812,382 (GRCm39) D132V probably damaging Het
Fat2 T A 11: 55,174,960 (GRCm39) I1918F possibly damaging Het
Fbxw5 C T 2: 25,393,251 (GRCm39) S214F probably damaging Het
Glyat G A 19: 12,628,817 (GRCm39) R204Q possibly damaging Het
Gm4825 T C 15: 85,395,182 (GRCm39) noncoding transcript Het
Ino80d G T 1: 63,125,435 (GRCm39) T9K possibly damaging Het
Lifr A T 15: 7,196,395 (GRCm39) D193V probably damaging Het
Lrp12 G T 15: 39,742,307 (GRCm39) probably benign Het
Lrp3 A G 7: 34,901,778 (GRCm39) V701A probably benign Het
Mfsd11 T A 11: 116,756,708 (GRCm39) probably benign Het
Mrto4 A T 4: 139,077,043 (GRCm39) probably null Het
Msi1 T C 5: 115,568,708 (GRCm39) F43L possibly damaging Het
Mthfsd T C 8: 121,827,976 (GRCm39) D168G probably damaging Het
Myo15a T A 11: 60,402,000 (GRCm39) V3099E probably damaging Het
Myrf T C 19: 10,193,176 (GRCm39) probably null Het
Nadk C A 4: 155,672,256 (GRCm39) probably benign Het
Nav1 T C 1: 135,398,864 (GRCm39) K573E possibly damaging Het
Ndufs3 A G 2: 90,728,732 (GRCm39) V207A probably damaging Het
Nlrp3 T C 11: 59,446,750 (GRCm39) probably benign Het
Nlrx1 T G 9: 44,174,211 (GRCm39) D330A probably benign Het
Or2a56 G A 6: 42,932,504 (GRCm39) C24Y probably benign Het
Or2t49 T C 11: 58,393,222 (GRCm39) I53M unknown Het
Osbpl3 C T 6: 50,324,998 (GRCm39) V167I probably benign Het
Pcnx1 A T 12: 82,021,240 (GRCm39) I1410F probably benign Het
Piezo2 G A 18: 63,157,562 (GRCm39) R2383C probably damaging Het
Pip5kl1 A T 2: 32,473,436 (GRCm39) K358* probably null Het
Polg T C 7: 79,101,988 (GRCm39) probably benign Het
Prr14l T A 5: 32,986,061 (GRCm39) I1145F probably benign Het
Psmb1 C T 17: 15,714,781 (GRCm39) V39I probably benign Het
Ptk6 T C 2: 180,844,101 (GRCm39) Y66C possibly damaging Het
Robo4 T C 9: 37,316,062 (GRCm39) probably benign Het
Sdk2 A G 11: 113,694,029 (GRCm39) Y1801H probably damaging Het
Serpinb3a C A 1: 106,977,116 (GRCm39) A95S probably benign Het
Setd1a CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG 7: 127,384,469 (GRCm39) probably benign Het
Sik2 A T 9: 50,906,932 (GRCm39) Y98N probably damaging Het
Slc30a1 C T 1: 191,641,838 (GRCm39) P495S probably benign Het
Smg1 A T 7: 117,783,684 (GRCm39) probably benign Het
Stk3 T A 15: 35,114,778 (GRCm39) I45L probably benign Het
Tapbp A G 17: 34,144,392 (GRCm39) T163A probably damaging Het
Tdrd5 T C 1: 156,113,051 (GRCm39) K410E probably damaging Het
Trim30b A T 7: 104,012,973 (GRCm39) M152K probably benign Het
Trpm6 G T 19: 18,760,389 (GRCm39) probably benign Het
Tsc22d1 T C 14: 76,742,743 (GRCm39) probably benign Het
U2surp A T 9: 95,367,660 (GRCm39) F444I probably damaging Het
Vmn2r95 C T 17: 18,661,664 (GRCm39) P470L probably damaging Het
Zc3h4 T G 7: 16,154,200 (GRCm39) Y163D probably damaging Het
Zfp62 A T 11: 49,106,503 (GRCm39) H198L probably damaging Het
Zmym1 A G 4: 126,952,613 (GRCm39) L56P probably benign Het
Other mutations in Adamts17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Adamts17 APN 7 66,618,650 (GRCm39) missense probably damaging 1.00
IGL00950:Adamts17 APN 7 66,770,660 (GRCm39) missense possibly damaging 0.69
IGL01532:Adamts17 APN 7 66,558,349 (GRCm39) missense probably damaging 1.00
IGL01591:Adamts17 APN 7 66,654,144 (GRCm39) missense probably damaging 1.00
IGL01602:Adamts17 APN 7 66,538,159 (GRCm39) missense probably benign 0.29
IGL01640:Adamts17 APN 7 66,679,428 (GRCm39) missense probably damaging 0.98
IGL01686:Adamts17 APN 7 66,490,037 (GRCm39) missense probably benign 0.06
IGL01747:Adamts17 APN 7 66,701,759 (GRCm39) missense probably damaging 1.00
IGL02081:Adamts17 APN 7 66,711,858 (GRCm39) missense probably damaging 1.00
IGL02152:Adamts17 APN 7 66,774,748 (GRCm39) missense probably benign 0.01
IGL02264:Adamts17 APN 7 66,697,207 (GRCm39) splice site probably null
IGL02457:Adamts17 APN 7 66,677,562 (GRCm39) missense probably damaging 0.99
IGL02519:Adamts17 APN 7 66,774,721 (GRCm39) missense possibly damaging 0.82
IGL02530:Adamts17 APN 7 66,559,124 (GRCm39) missense probably damaging 1.00
IGL02649:Adamts17 APN 7 66,499,626 (GRCm39) splice site probably benign
IGL02711:Adamts17 APN 7 66,701,788 (GRCm39) splice site probably benign
IGL03006:Adamts17 APN 7 66,728,095 (GRCm39) missense possibly damaging 0.53
IGL03203:Adamts17 APN 7 66,711,856 (GRCm39) missense probably damaging 1.00
IGL03343:Adamts17 APN 7 66,725,064 (GRCm39) missense probably damaging 1.00
BB007:Adamts17 UTSW 7 66,499,547 (GRCm39) missense probably damaging 0.96
BB017:Adamts17 UTSW 7 66,499,547 (GRCm39) missense probably damaging 0.96
E2594:Adamts17 UTSW 7 66,654,098 (GRCm39) missense probably damaging 1.00
R0380:Adamts17 UTSW 7 66,799,792 (GRCm39) missense probably benign 0.00
R0635:Adamts17 UTSW 7 66,558,353 (GRCm39) missense probably damaging 1.00
R1083:Adamts17 UTSW 7 66,797,322 (GRCm39) missense probably damaging 1.00
R1476:Adamts17 UTSW 7 66,725,091 (GRCm39) missense probably damaging 1.00
R1728:Adamts17 UTSW 7 66,799,704 (GRCm39) nonsense probably null
R1729:Adamts17 UTSW 7 66,799,704 (GRCm39) nonsense probably null
R1763:Adamts17 UTSW 7 66,797,463 (GRCm39) missense probably damaging 1.00
R1784:Adamts17 UTSW 7 66,799,704 (GRCm39) nonsense probably null
R1905:Adamts17 UTSW 7 66,697,220 (GRCm39) nonsense probably null
R1938:Adamts17 UTSW 7 66,774,820 (GRCm39) missense probably damaging 1.00
R3106:Adamts17 UTSW 7 66,774,820 (GRCm39) missense probably damaging 1.00
R3796:Adamts17 UTSW 7 66,489,662 (GRCm39) splice site probably null
R3849:Adamts17 UTSW 7 66,490,215 (GRCm39) missense possibly damaging 0.92
R3850:Adamts17 UTSW 7 66,490,215 (GRCm39) missense possibly damaging 0.92
R3945:Adamts17 UTSW 7 66,770,687 (GRCm39) missense probably benign
R4519:Adamts17 UTSW 7 66,490,314 (GRCm39) missense probably damaging 0.99
R4554:Adamts17 UTSW 7 66,677,641 (GRCm39) missense probably damaging 1.00
R4555:Adamts17 UTSW 7 66,677,641 (GRCm39) missense probably damaging 1.00
R4556:Adamts17 UTSW 7 66,677,641 (GRCm39) missense probably damaging 1.00
R4557:Adamts17 UTSW 7 66,677,641 (GRCm39) missense probably damaging 1.00
R4700:Adamts17 UTSW 7 66,691,636 (GRCm39) missense probably damaging 1.00
R4752:Adamts17 UTSW 7 66,654,218 (GRCm39) missense probably damaging 0.96
R5019:Adamts17 UTSW 7 66,711,818 (GRCm39) nonsense probably null
R5438:Adamts17 UTSW 7 66,538,165 (GRCm39) missense probably benign 0.30
R5444:Adamts17 UTSW 7 66,691,647 (GRCm39) missense probably benign 0.02
R5673:Adamts17 UTSW 7 66,691,555 (GRCm39) missense probably damaging 1.00
R6326:Adamts17 UTSW 7 66,770,636 (GRCm39) missense probably benign 0.05
R6964:Adamts17 UTSW 7 66,654,101 (GRCm39) missense probably benign 0.00
R6964:Adamts17 UTSW 7 66,559,148 (GRCm39) missense possibly damaging 0.93
R7129:Adamts17 UTSW 7 66,770,758 (GRCm39) missense probably damaging 1.00
R7317:Adamts17 UTSW 7 66,490,304 (GRCm39) nonsense probably null
R7355:Adamts17 UTSW 7 66,725,052 (GRCm39) missense
R7386:Adamts17 UTSW 7 66,618,597 (GRCm39) missense probably benign 0.25
R7407:Adamts17 UTSW 7 66,697,304 (GRCm39) nonsense probably null
R7432:Adamts17 UTSW 7 66,701,665 (GRCm39) missense
R7782:Adamts17 UTSW 7 66,774,802 (GRCm39) missense probably damaging 1.00
R7817:Adamts17 UTSW 7 66,559,224 (GRCm39) missense probably damaging 0.99
R7930:Adamts17 UTSW 7 66,499,547 (GRCm39) missense probably damaging 0.96
R7993:Adamts17 UTSW 7 66,499,612 (GRCm39) missense possibly damaging 0.90
R8178:Adamts17 UTSW 7 66,499,464 (GRCm39) missense possibly damaging 0.46
R8962:Adamts17 UTSW 7 66,725,057 (GRCm39) missense probably damaging 1.00
R9095:Adamts17 UTSW 7 66,654,117 (GRCm39) missense probably damaging 1.00
R9111:Adamts17 UTSW 7 66,489,648 (GRCm39) missense probably damaging 0.96
R9303:Adamts17 UTSW 7 66,489,645 (GRCm39) missense probably damaging 0.99
R9305:Adamts17 UTSW 7 66,489,645 (GRCm39) missense probably damaging 0.99
R9505:Adamts17 UTSW 7 66,774,683 (GRCm39) missense probably benign 0.00
R9668:Adamts17 UTSW 7 66,797,438 (GRCm39) missense possibly damaging 0.61
X0022:Adamts17 UTSW 7 66,691,649 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- GACTGTCCTTAACCATTTAGAACTGCCA -3'
(R):5'- GTCATAGGCAGCCTCAAAACTCACC -3'

Sequencing Primer
(F):5'- ccactgctgttgctgttc -3'
(R):5'- CTCACCTGAAAAGAAAATAGAGGAAC -3'
Posted On 2013-05-23