Incidental Mutation 'R5444:Adamts17'
ID 427339
Institutional Source Beutler Lab
Gene Symbol Adamts17
Ensembl Gene ENSMUSG00000058145
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 17
Synonyms AU023434
MMRRC Submission 043009-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5444 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 66489483-66802919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66691647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 610 (H610Q)
Ref Sequence ENSEMBL: ENSMUSP00000095984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098382] [ENSMUST00000107478]
AlphaFold E9Q4D1
Predicted Effect probably benign
Transcript: ENSMUST00000098382
AA Change: H610Q

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145
AA Change: H610Q

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 benign
Transcript: ENSMUST00000107478
AA Change: H610Q

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145
AA Change: H610Q

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: ENSMUST00000147880
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 99% (66/67)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A G 5: 26,684,735 (GRCm39) noncoding transcript Het
Adam11 A G 11: 102,663,674 (GRCm39) Q284R probably damaging Het
Alg6 A G 4: 99,629,816 (GRCm39) Y131C probably benign Het
Apol9b T C 15: 77,619,963 (GRCm39) I253T probably damaging Het
Asb4 T A 6: 5,431,040 (GRCm39) I425N probably damaging Het
Atic T C 1: 71,615,876 (GRCm39) L474P probably damaging Het
B3glct C T 5: 149,669,985 (GRCm39) T318I probably damaging Het
Bbs7 T C 3: 36,666,199 (GRCm39) K22E possibly damaging Het
Cdk17 T G 10: 93,053,823 (GRCm39) probably null Het
Cemip T A 7: 83,631,499 (GRCm39) T438S probably damaging Het
Chd2 T C 7: 73,122,833 (GRCm39) E967G probably damaging Het
Cyp2d26 G T 15: 82,676,739 (GRCm39) D202E probably benign Het
Dhdds G A 4: 133,698,447 (GRCm39) R295* probably null Het
Eef2kmt G A 16: 5,066,959 (GRCm39) probably benign Het
Fn3krp G A 11: 121,312,430 (GRCm39) probably null Het
Gjc3 G A 5: 137,955,809 (GRCm39) L159F probably damaging Het
Gm28434 T C 5: 88,127,147 (GRCm39) probably benign Het
Gp2 G A 7: 119,053,821 (GRCm39) P47S possibly damaging Het
Irf7 C T 7: 140,844,732 (GRCm39) probably benign Het
Itgb8 T C 12: 119,201,573 (GRCm39) probably benign Het
Kcnb2 A T 1: 15,781,716 (GRCm39) I863F probably benign Het
Lamb1 T C 12: 31,348,908 (GRCm39) F647L possibly damaging Het
Mccc1 T A 3: 36,030,891 (GRCm39) M392L probably benign Het
Mtmr10 T C 7: 63,938,149 (GRCm39) probably null Het
Ncstn A C 1: 171,900,406 (GRCm39) V223G possibly damaging Het
Neurl3 G T 1: 36,308,571 (GRCm39) F80L probably damaging Het
Nf1 T C 11: 79,334,785 (GRCm39) M869T possibly damaging Het
Nfatc2 A G 2: 168,376,810 (GRCm39) probably benign Het
Nnat T C 2: 157,403,137 (GRCm39) F26S possibly damaging Het
Nos1ap T C 1: 170,202,820 (GRCm39) Y109C probably damaging Het
Nup205 T A 6: 35,166,124 (GRCm39) D194E probably damaging Het
Or10ak11 T A 4: 118,687,308 (GRCm39) I109L probably benign Het
Or3a4 T C 11: 73,944,803 (GRCm39) S261G probably benign Het
Or52k2 C T 7: 102,254,076 (GRCm39) R172* probably null Het
Or5b109 A T 19: 13,212,322 (GRCm39) Q236L probably benign Het
Or9g3 A T 2: 85,590,263 (GRCm39) F152L probably benign Het
Ostf1 A G 19: 18,558,677 (GRCm39) L202S probably benign Het
Pdzrn4 T A 15: 92,668,806 (GRCm39) M747K probably damaging Het
Plxnb1 A G 9: 108,935,521 (GRCm39) D1019G probably benign Het
Pnlip A G 19: 58,661,595 (GRCm39) I95V probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ppp1r13b T A 12: 111,805,122 (GRCm39) T197S probably benign Het
Rasgrp3 A T 17: 75,810,370 (GRCm39) I357F probably damaging Het
Rbmxl2 G C 7: 106,809,044 (GRCm39) G110R probably damaging Het
Relch C T 1: 105,654,109 (GRCm39) T826I possibly damaging Het
Rgs22 T C 15: 36,015,773 (GRCm39) D1037G possibly damaging Het
Rnf215 A G 11: 4,085,843 (GRCm39) I107M probably benign Het
Rybp A T 6: 100,264,231 (GRCm39) M3K probably damaging Het
Sgo2b T C 8: 64,379,590 (GRCm39) S1081G possibly damaging Het
Slfn10-ps C T 11: 82,926,113 (GRCm39) noncoding transcript Het
Spag17 T C 3: 99,963,468 (GRCm39) V1062A probably benign Het
Sult2a1 A T 7: 13,569,944 (GRCm39) I96K possibly damaging Het
Tbc1d5 A G 17: 51,042,995 (GRCm39) I831T probably damaging Het
Thbs3 T C 3: 89,130,692 (GRCm39) probably benign Het
Tmub2 T C 11: 102,179,066 (GRCm39) L255S possibly damaging Het
Trank1 T A 9: 111,222,026 (GRCm39) L2921Q probably benign Het
Trappc14 A T 5: 138,259,260 (GRCm39) probably null Het
Tuba8 A T 6: 121,203,060 (GRCm39) probably benign Het
Vmn2r25 T C 6: 123,805,451 (GRCm39) I469V probably benign Het
Zfp1007 A T 5: 109,823,502 (GRCm39) Y649* probably null 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
R0416:Adamts17 UTSW 7 66,565,646 (GRCm39) splice site probably null
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
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'- CATGAGAGACCCAGTTACTCTG -3'
(R):5'- ACAGCAGTGTTCTCAGGTGG -3'

Sequencing Primer
(F):5'- AGTTACTCTGGAAACCTTGCC -3'
(R):5'- TCTCAGGTGGGCTGGGC -3'
Posted On 2016-09-01