Incidental Mutation 'R7986:Adamts1'
ID 651505
Institutional Source Beutler Lab
Gene Symbol Adamts1
Ensembl Gene ENSMUSG00000022893
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 1
Synonyms ADAMTS-1, ADAM-TS1, METH1, METH-1
MMRRC Submission 046027-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7986 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 85590715-85600001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85596435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 401 (A401D)
Ref Sequence ENSEMBL: ENSMUSP00000023610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023610] [ENSMUST00000125897]
AlphaFold P97857
Predicted Effect probably damaging
Transcript: ENSMUST00000023610
AA Change: A401D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: A401D

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 22 194 1.3e-27 PFAM
Pfam:Reprolysin_4 257 464 2.2e-9 PFAM
Pfam:Reprolysin_5 257 466 1.6e-14 PFAM
Pfam:Reprolysin 259 468 3.6e-22 PFAM
Pfam:Reprolysin_2 279 458 2.1e-10 PFAM
Pfam:Reprolysin_3 281 413 4.8e-14 PFAM
ACR 469 549 7.36e-8 SMART
TSP1 563 615 3.77e-14 SMART
Pfam:ADAM_spacer1 726 844 1.7e-35 PFAM
TSP1 858 911 1.22e-8 SMART
TSP1 912 968 1.2e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125897
AA Change: A138D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: A138D

DomainStartEndE-ValueType
Pfam:Reprolysin_4 1 201 2.3e-9 PFAM
Pfam:Reprolysin_5 1 203 8.8e-14 PFAM
Pfam:Reprolysin 1 205 5e-22 PFAM
Pfam:Reprolysin_2 16 195 8.6e-10 PFAM
Pfam:Reprolysin_3 19 150 4.2e-14 PFAM
ACR 206 286 7.36e-8 SMART
TSP1 300 352 3.77e-14 SMART
Pfam:ADAM_spacer1 463 581 3e-35 PFAM
TSP1 595 648 1.22e-8 SMART
TSP1 649 680 4.85e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family and preproprotein that is proteolytically processed to generate a mature protein product. This secreted protein product plays an important role in ovulation, likely through its cleavage of the extracellular matrix component versican. The encoded protein may enhance tumorigenesis in a mouse model of breast cancer. Homozygous knockout mice for this gene exhibit enhanced perinatal lethality, impaired growth and adipose tissue development, and impaired ovulation in females. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display growth retardation with adipose tissue malformation, impaired female fertility, enlarged renal calices and abnormal adrenal medullary architecture. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 C T 11: 61,820,890 (GRCm39) G5R probably damaging Het
Arhgap21 A C 2: 20,867,967 (GRCm39) L1023W probably damaging Het
Bpifb4 A G 2: 153,799,650 (GRCm39) N339S probably benign Het
Btbd17 A G 11: 114,683,341 (GRCm39) Y124H probably damaging Het
Cacna1a C G 8: 85,365,408 (GRCm39) R2184G probably benign Het
Cavin1 A G 11: 100,861,102 (GRCm39) I64T probably damaging Het
Cby3 A G 11: 50,250,106 (GRCm39) H9R possibly damaging Het
Ccdc141 A G 2: 76,845,461 (GRCm39) L1202P probably benign Het
Cd109 A G 9: 78,596,048 (GRCm39) I794V possibly damaging Het
Col12a1 C T 9: 79,511,674 (GRCm39) probably null Het
Col6a2 A G 10: 76,450,972 (GRCm39) L23P probably benign Het
Csf1r A G 18: 61,247,904 (GRCm39) H324R probably benign Het
D430041D05Rik A G 2: 104,087,096 (GRCm39) S627P probably damaging Het
Dffb G A 4: 154,054,504 (GRCm39) S195F probably damaging Het
Fstl5 T A 3: 76,337,097 (GRCm39) Y219N probably damaging Het
Gm29106 A T 1: 118,128,000 (GRCm39) H564L possibly damaging Het
Gpt2 T A 8: 86,235,839 (GRCm39) C158* probably null Het
Grin1 G T 2: 25,185,841 (GRCm39) A872D probably damaging Het
Hoxa1 T C 6: 52,135,018 (GRCm39) S62G probably benign Het
Krt28 T C 11: 99,257,651 (GRCm39) N397D probably benign Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Llgl1 G T 11: 60,602,221 (GRCm39) A755S probably benign Het
Lmod2 A G 6: 24,603,448 (GRCm39) E141G possibly damaging Het
Loxhd1 A T 18: 77,462,890 (GRCm39) T910S possibly damaging Het
Masp2 A G 4: 148,687,283 (GRCm39) Y55C probably damaging Het
Nek10 A C 14: 15,001,020 (GRCm38) S1067R probably benign Het
Nemp2 C T 1: 52,669,981 (GRCm39) A22V probably benign Het
Npy2r T A 3: 82,448,803 (GRCm39) probably null Het
Nr1h4 A T 10: 89,290,634 (GRCm39) S469T possibly damaging Het
Nr4a3 T C 4: 48,055,954 (GRCm39) Y327H probably damaging Het
Or10ag52 A G 2: 87,043,922 (GRCm39) I229V probably benign Het
Or5an1b C T 19: 12,300,102 (GRCm39) V30I probably benign Het
Pramel26 A T 4: 143,538,590 (GRCm39) L127* probably null Het
Prss1l T C 6: 41,373,058 (GRCm39) I110T probably damaging Het
Ptpdc1 G A 13: 48,746,046 (GRCm39) A118V probably damaging Het
Raph1 T C 1: 60,535,445 (GRCm39) Y73C Het
Rtl1 A G 12: 109,558,492 (GRCm39) S1116P possibly damaging Het
Secisbp2 T C 13: 51,819,395 (GRCm39) I325T probably damaging Het
Setd5 T C 6: 113,105,418 (GRCm39) S817P probably benign Het
Sirt6 A G 10: 81,458,344 (GRCm39) L303P probably benign Het
Slc46a2 G T 4: 59,911,858 (GRCm39) F451L probably benign Het
Sorbs1 T A 19: 40,353,449 (GRCm39) I219F probably damaging Het
Tmem178 A G 17: 81,308,273 (GRCm39) I223V possibly damaging Het
Trps1 T G 15: 50,525,132 (GRCm39) T933P probably damaging Het
Trps1 A G 15: 50,753,019 (GRCm39) F16S probably benign Het
Virma T A 4: 11,540,023 (GRCm39) S1447R probably benign Het
Vmn1r230 T C 17: 21,067,119 (GRCm39) Y103H probably damaging Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Ybx3 T A 6: 131,356,362 (GRCm39) R170* probably null Het
Zfp423 T C 8: 88,506,978 (GRCm39) D1122G probably benign Het
Other mutations in Adamts1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Adamts1 APN 16 85,592,461 (GRCm39) missense probably benign
IGL01753:Adamts1 APN 16 85,599,112 (GRCm39) missense probably benign 0.00
IGL02238:Adamts1 APN 16 85,592,713 (GRCm39) missense probably benign 0.01
IGL02655:Adamts1 APN 16 85,599,505 (GRCm39) missense probably benign
gambler UTSW 16 85,596,497 (GRCm39) nonsense probably null
sure_thing UTSW 16 85,595,432 (GRCm39) missense probably damaging 1.00
PIT4466001:Adamts1 UTSW 16 85,593,579 (GRCm39) nonsense probably null
R0114:Adamts1 UTSW 16 85,596,502 (GRCm39) missense probably benign 0.10
R0135:Adamts1 UTSW 16 85,595,591 (GRCm39) splice site probably benign
R0179:Adamts1 UTSW 16 85,592,353 (GRCm39) missense probably benign 0.00
R0517:Adamts1 UTSW 16 85,597,241 (GRCm39) missense possibly damaging 0.96
R0526:Adamts1 UTSW 16 85,599,260 (GRCm39) missense probably benign
R0727:Adamts1 UTSW 16 85,595,536 (GRCm39) missense possibly damaging 0.51
R0899:Adamts1 UTSW 16 85,594,940 (GRCm39) nonsense probably null
R1163:Adamts1 UTSW 16 85,599,525 (GRCm39) missense probably benign 0.07
R1555:Adamts1 UTSW 16 85,594,776 (GRCm39) missense probably benign 0.17
R1598:Adamts1 UTSW 16 85,595,399 (GRCm39) nonsense probably null
R1643:Adamts1 UTSW 16 85,593,705 (GRCm39) splice site probably benign
R1847:Adamts1 UTSW 16 85,599,114 (GRCm39) missense possibly damaging 0.89
R2045:Adamts1 UTSW 16 85,592,864 (GRCm39) missense probably damaging 1.00
R2093:Adamts1 UTSW 16 85,599,333 (GRCm39) missense probably benign 0.23
R2966:Adamts1 UTSW 16 85,593,662 (GRCm39) missense possibly damaging 0.94
R3937:Adamts1 UTSW 16 85,592,507 (GRCm39) missense possibly damaging 0.90
R3938:Adamts1 UTSW 16 85,592,507 (GRCm39) missense possibly damaging 0.90
R4348:Adamts1 UTSW 16 85,599,234 (GRCm39) missense probably benign 0.02
R4350:Adamts1 UTSW 16 85,599,234 (GRCm39) missense probably benign 0.02
R4351:Adamts1 UTSW 16 85,599,234 (GRCm39) missense probably benign 0.02
R4352:Adamts1 UTSW 16 85,599,234 (GRCm39) missense probably benign 0.02
R4470:Adamts1 UTSW 16 85,595,404 (GRCm39) missense possibly damaging 0.88
R4724:Adamts1 UTSW 16 85,599,393 (GRCm39) missense probably benign 0.00
R4775:Adamts1 UTSW 16 85,597,278 (GRCm39) nonsense probably null
R4972:Adamts1 UTSW 16 85,592,833 (GRCm39) missense probably damaging 1.00
R5353:Adamts1 UTSW 16 85,599,496 (GRCm39) missense probably benign 0.00
R5420:Adamts1 UTSW 16 85,596,497 (GRCm39) nonsense probably null
R5551:Adamts1 UTSW 16 85,594,634 (GRCm39) missense probably benign
R5574:Adamts1 UTSW 16 85,596,530 (GRCm39) missense probably damaging 1.00
R5759:Adamts1 UTSW 16 85,594,936 (GRCm39) missense possibly damaging 0.93
R5860:Adamts1 UTSW 16 85,595,432 (GRCm39) missense probably damaging 1.00
R5910:Adamts1 UTSW 16 85,599,037 (GRCm39) missense probably benign 0.00
R6240:Adamts1 UTSW 16 85,599,045 (GRCm39) missense probably benign
R6473:Adamts1 UTSW 16 85,596,531 (GRCm39) missense probably damaging 1.00
R6623:Adamts1 UTSW 16 85,592,525 (GRCm39) missense probably benign 0.20
R6628:Adamts1 UTSW 16 85,592,713 (GRCm39) missense probably benign 0.05
R7034:Adamts1 UTSW 16 85,599,634 (GRCm39) unclassified probably benign
R7174:Adamts1 UTSW 16 85,596,060 (GRCm39) missense probably benign 0.00
R7572:Adamts1 UTSW 16 85,594,629 (GRCm39) missense possibly damaging 0.51
R7759:Adamts1 UTSW 16 85,594,683 (GRCm39) missense probably damaging 1.00
R7808:Adamts1 UTSW 16 85,597,117 (GRCm39) missense probably damaging 0.99
R7880:Adamts1 UTSW 16 85,594,940 (GRCm39) nonsense probably null
R7985:Adamts1 UTSW 16 85,595,002 (GRCm39) missense probably damaging 1.00
R8118:Adamts1 UTSW 16 85,592,821 (GRCm39) missense probably damaging 1.00
R8466:Adamts1 UTSW 16 85,599,400 (GRCm39) missense probably benign 0.42
R8468:Adamts1 UTSW 16 85,592,444 (GRCm39) missense possibly damaging 0.52
R8712:Adamts1 UTSW 16 85,594,896 (GRCm39) missense probably benign 0.28
R8721:Adamts1 UTSW 16 85,594,775 (GRCm39) missense probably damaging 0.96
R8804:Adamts1 UTSW 16 85,599,300 (GRCm39) missense probably damaging 1.00
R9188:Adamts1 UTSW 16 85,599,571 (GRCm39) missense probably damaging 0.96
R9297:Adamts1 UTSW 16 85,599,534 (GRCm39) missense probably benign 0.01
R9346:Adamts1 UTSW 16 85,599,420 (GRCm39) missense possibly damaging 0.89
R9552:Adamts1 UTSW 16 85,599,505 (GRCm39) missense probably benign
R9681:Adamts1 UTSW 16 85,599,498 (GRCm39) missense
R9786:Adamts1 UTSW 16 85,592,302 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GTCAACGTTCAAATGTTTGTACCAC -3'
(R):5'- TGCCCAACTGAAGAGCTAAG -3'

Sequencing Primer
(F):5'- CCTGTCCTAGTAAGACCATACTTG -3'
(R):5'- TGAAGAGCTAAGTATCAAGTCCACTC -3'
Posted On 2020-09-15