Incidental Mutation 'IGL02152:Adamts17'
ID282058
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamts17
Ensembl Gene ENSMUSG00000058145
Gene Namea disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 17
SynonymsAU023434
Accession Numbers

Genbank: NM_001033877; MGI: 3588195

Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL02152
Quality Score
Status
Chromosome7
Chromosomal Location66839735-67153171 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 67125000 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 956 (S956T)
Ref Sequence ENSEMBL: ENSMUSP00000103102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098382] [ENSMUST00000107478]
Predicted Effect probably benign
Transcript: ENSMUST00000098382
AA Change: S983T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145
AA Change: S983T

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: S956T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145
AA Change: S956T

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
Coding Region Coverage
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,003,225 I143V probably benign Het
1700028K03Rik A G 5: 107,548,117 T140A probably benign Het
4933430I17Rik T C 4: 62,542,754 Y289H possibly damaging Het
Adamts6 A T 13: 104,313,660 S290C probably null Het
Apaf1 A T 10: 91,061,819 H267Q probably benign Het
Aplp2 G A 9: 31,211,651 P26L unknown Het
Arid1b C T 17: 5,313,968 S1019F probably damaging Het
Armc3 G A 2: 19,286,137 probably null Het
Ass1 T C 2: 31,492,324 I169T probably damaging Het
Ccser1 A G 6: 61,311,708 D285G possibly damaging Het
Cenpf A G 1: 189,649,012 V2737A probably benign Het
Chrm5 A G 2: 112,480,568 Y68H probably damaging Het
Cops4 A G 5: 100,533,590 T164A probably benign Het
Cox4i1 A G 8: 120,672,865 S72G probably benign Het
Cpox A G 16: 58,674,424 T275A possibly damaging Het
Cyb5a T C 18: 84,873,156 I68T probably benign Het
Efna5 T C 17: 62,651,060 D67G probably benign Het
Enpp3 T C 10: 24,774,002 E842G probably damaging Het
Fam208b C T 13: 3,585,371 E479K probably benign Het
Fam210b A G 2: 172,351,503 K79E probably benign Het
Gm17359 T C 3: 79,345,532 I18T possibly damaging Het
Gm4799 T C 10: 82,954,755 noncoding transcript Het
Gpr146 A T 5: 139,392,712 R90W probably damaging Het
Hal A G 10: 93,503,542 I498V possibly damaging Het
Hist1h2af A G 13: 23,534,281 H124R probably benign Het
Hnrnpm C T 17: 33,658,412 G365R probably damaging Het
Jakmip3 A G 7: 139,025,488 D407G probably damaging Het
Kank1 A G 19: 25,428,172 I1185V possibly damaging Het
Kcnj16 A T 11: 111,025,210 M233L probably benign Het
Klhl5 A T 5: 65,148,800 Q370L probably damaging Het
L3hypdh C T 12: 72,077,143 probably null Het
Las1l A G X: 95,953,302 V130A probably damaging Het
Lrp2bp A T 8: 46,023,044 Y274F probably damaging Het
Morc2b T A 17: 33,137,943 K285M probably damaging Het
Mpp3 A T 11: 102,025,390 Y45* probably null Het
Muc4 T A 16: 32,777,649 probably benign Het
Muc5ac T C 7: 141,800,177 C837R possibly damaging Het
Mum1 A G 10: 80,239,978 D466G probably damaging Het
Nr2f6 T A 8: 71,376,166 I155F probably damaging Het
Nsg1 A G 5: 38,144,801 F50L probably benign Het
Olfr304 T A 7: 86,386,043 M206L probably benign Het
Ostf1 C A 19: 18,590,458 G101C probably damaging Het
Pam C T 1: 97,840,749 R552Q probably damaging Het
Pkd1l3 A G 8: 109,669,292 N2108S probably damaging Het
Prkdc A T 16: 15,669,285 H484L probably benign Het
Rfx5 G A 3: 94,957,182 R213Q probably damaging Het
Ryr1 T C 7: 29,052,015 S3715G possibly damaging Het
Sall2 A G 14: 52,315,514 S73P probably damaging Het
Sec22c G A 9: 121,684,779 A264V probably benign Het
Sis A C 3: 72,888,986 probably benign Het
Spam1 T A 6: 24,800,803 probably benign Het
St13 T A 15: 81,366,382 I318F probably damaging Het
Syne1 T C 10: 5,424,382 I142V probably damaging Het
Trpm6 A T 19: 18,832,539 T1100S possibly damaging Het
Ttll6 G A 11: 96,135,540 W90* probably null Het
Txndc12 T A 4: 108,834,792 C9* probably null Het
Ubr7 C T 12: 102,768,276 Q270* probably null Het
Vps33b A G 7: 80,285,069 S302G probably benign Het
Xylt1 T A 7: 117,634,770 V508E probably damaging Het
Zbtb26 A T 2: 37,436,691 L111Q possibly damaging Het
Zfp410 T C 12: 84,332,928 probably benign Het
Zscan18 A T 7: 12,775,296 probably benign Het
Other mutations in Adamts17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Adamts17 APN 7 66968902 missense probably damaging 1.00
IGL00950:Adamts17 APN 7 67120912 missense possibly damaging 0.69
IGL01532:Adamts17 APN 7 66908601 missense probably damaging 1.00
IGL01591:Adamts17 APN 7 67004396 missense probably damaging 1.00
IGL01602:Adamts17 APN 7 66888411 missense probably benign 0.29
IGL01640:Adamts17 APN 7 67029680 missense probably damaging 0.98
IGL01686:Adamts17 APN 7 66840289 missense probably benign 0.06
IGL01747:Adamts17 APN 7 67052011 missense probably damaging 1.00
IGL02081:Adamts17 APN 7 67062110 missense probably damaging 1.00
IGL02264:Adamts17 APN 7 67047459 splice site probably null
IGL02457:Adamts17 APN 7 67027814 missense probably damaging 0.99
IGL02519:Adamts17 APN 7 67124973 missense possibly damaging 0.82
IGL02530:Adamts17 APN 7 66909376 missense probably damaging 1.00
IGL02649:Adamts17 APN 7 66849878 splice site probably benign
IGL02711:Adamts17 APN 7 67052040 splice site probably benign
IGL03006:Adamts17 APN 7 67078347 missense possibly damaging 0.53
IGL03203:Adamts17 APN 7 67062108 missense probably damaging 1.00
IGL03343:Adamts17 APN 7 67075316 missense probably damaging 1.00
E2594:Adamts17 UTSW 7 67004350 missense probably damaging 1.00
R0380:Adamts17 UTSW 7 67150044 missense probably benign 0.00
R0416:Adamts17 UTSW 7 66915898 splice site probably null
R0635:Adamts17 UTSW 7 66908605 missense probably damaging 1.00
R1083:Adamts17 UTSW 7 67147574 missense probably damaging 1.00
R1476:Adamts17 UTSW 7 67075343 missense probably damaging 1.00
R1728:Adamts17 UTSW 7 67149956 nonsense probably null
R1729:Adamts17 UTSW 7 67149956 nonsense probably null
R1763:Adamts17 UTSW 7 67147715 missense probably damaging 1.00
R1784:Adamts17 UTSW 7 67149956 nonsense probably null
R1905:Adamts17 UTSW 7 67047472 nonsense probably null
R1938:Adamts17 UTSW 7 67125072 missense probably damaging 1.00
R3106:Adamts17 UTSW 7 67125072 missense probably damaging 1.00
R3796:Adamts17 UTSW 7 66839914 splice site probably null
R3849:Adamts17 UTSW 7 66840467 missense possibly damaging 0.92
R3850:Adamts17 UTSW 7 66840467 missense possibly damaging 0.92
R3945:Adamts17 UTSW 7 67120939 missense probably benign
R4519:Adamts17 UTSW 7 66840566 missense probably damaging 0.99
R4554:Adamts17 UTSW 7 67027893 missense probably damaging 1.00
R4555:Adamts17 UTSW 7 67027893 missense probably damaging 1.00
R4556:Adamts17 UTSW 7 67027893 missense probably damaging 1.00
R4557:Adamts17 UTSW 7 67027893 missense probably damaging 1.00
R4700:Adamts17 UTSW 7 67041888 missense probably damaging 1.00
R4752:Adamts17 UTSW 7 67004470 missense probably damaging 0.96
R5019:Adamts17 UTSW 7 67062070 nonsense probably null
R5438:Adamts17 UTSW 7 66888417 missense probably benign 0.30
R5444:Adamts17 UTSW 7 67041899 missense probably benign 0.02
R5673:Adamts17 UTSW 7 67041807 missense probably damaging 1.00
R6326:Adamts17 UTSW 7 67120888 missense probably benign 0.05
R6964:Adamts17 UTSW 7 66909400 missense possibly damaging 0.93
R6964:Adamts17 UTSW 7 67004353 missense probably benign 0.00
R7129:Adamts17 UTSW 7 67121010 missense probably damaging 1.00
R7317:Adamts17 UTSW 7 66840556 nonsense probably null
R7355:Adamts17 UTSW 7 67075304 missense
R7386:Adamts17 UTSW 7 66968849 missense probably benign 0.25
R7407:Adamts17 UTSW 7 67047556 nonsense probably null
R7432:Adamts17 UTSW 7 67051917 missense
X0022:Adamts17 UTSW 7 67041901 missense probably benign 0.44
Posted On2015-04-16