Incidental Mutation 'R1163:Adamts1'
ID 100713
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 039236-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1163 (G1)
Quality Score 148
Status Not validated
Chromosome 16
Chromosomal Location 85590715-85600001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 85599525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 25 (A25G)
Ref Sequence ENSEMBL: ENSMUSP00000023610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023610] [ENSMUST00000125897]
AlphaFold P97857
Predicted Effect probably benign
Transcript: ENSMUST00000023610
AA Change: A25G

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: A25G

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 benign
Transcript: ENSMUST00000125897
SMART Domains Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138474
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T A 10: 86,957,284 (GRCm39) Y7N probably damaging Het
4930579F01Rik T G 3: 137,882,271 (GRCm39) D18A probably damaging Het
Abca8a T C 11: 109,962,356 (GRCm39) D499G probably benign Het
Adamts2 A T 11: 50,670,541 (GRCm39) I552F probably damaging Het
Akap3 A G 6: 126,841,750 (GRCm39) D123G probably damaging Het
Ankar C T 1: 72,727,864 (GRCm39) V350I possibly damaging Het
Apob A G 12: 8,061,654 (GRCm39) T3379A probably damaging Het
Ash1l G T 3: 88,942,570 (GRCm39) probably null Het
Atp2b1 T C 10: 98,815,713 (GRCm39) I119T possibly damaging Het
B3gnt2 A T 11: 22,786,558 (GRCm39) M210K probably benign Het
Bcl11a A G 11: 24,115,143 (GRCm39) N829D probably benign Het
Btnl4 T C 17: 34,689,049 (GRCm39) E337G possibly damaging Het
Casr A T 16: 36,315,169 (GRCm39) V967D probably damaging Het
Cd200 A T 16: 45,212,715 (GRCm39) V244D probably damaging Het
Cd200r4 A G 16: 44,658,383 (GRCm39) N256D probably benign Het
Cep68 A G 11: 20,190,539 (GRCm39) S158P probably damaging Het
Chst10 A T 1: 38,910,783 (GRCm39) V123D probably damaging Het
Cobll1 T C 2: 64,928,623 (GRCm39) H938R probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dmkn T G 7: 30,464,476 (GRCm39) C205G probably damaging Het
Dock8 A G 19: 25,028,867 (GRCm39) I24V probably benign Het
Dpp3 C T 19: 4,964,951 (GRCm39) W488* probably null Het
Dpp9 C A 17: 56,506,426 (GRCm39) A365S possibly damaging Het
Egfr A T 11: 16,833,546 (GRCm39) T605S probably benign Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Fam83g T C 11: 61,594,262 (GRCm39) S599P probably damaging Het
Fscn1 G T 5: 142,946,598 (GRCm39) W132L probably damaging Het
Gbp2b A G 3: 142,304,857 (GRCm39) T98A probably damaging Het
Gm4922 C T 10: 18,659,469 (GRCm39) A418T possibly damaging Het
Golgb1 G T 16: 36,736,488 (GRCm39) V1912L possibly damaging Het
Gon4l T C 3: 88,799,842 (GRCm39) L829P probably damaging Het
Grm3 T A 5: 9,620,738 (GRCm39) I169L probably benign Het
Gsdma2 A G 11: 98,541,684 (GRCm39) D137G probably damaging Het
Hhip T C 8: 80,719,105 (GRCm39) Y474C probably damaging Het
Hsph1 A T 5: 149,554,266 (GRCm39) V163E probably damaging Het
Ifi203 T C 1: 173,751,703 (GRCm39) K373E probably damaging Het
Itsn2 A G 12: 4,762,009 (GRCm39) T1540A probably benign Het
Kdm1b T C 13: 47,225,398 (GRCm39) V527A probably benign Het
Kdm5d G A Y: 898,029 (GRCm39) A22T probably benign Het
Khdrbs1 A T 4: 129,619,379 (GRCm39) F254Y possibly damaging Het
Kif26a T C 12: 112,146,379 (GRCm39) F1822L probably benign Het
Krt1 C A 15: 101,756,600 (GRCm39) E308* probably null Het
Lrrc47 T A 4: 154,096,274 (GRCm39) M1K probably null Het
Mrgpra4 A T 7: 47,631,224 (GRCm39) W126R probably damaging Het
Nlrp4e G A 7: 23,020,397 (GRCm39) V295I probably benign Het
Or1l4b A T 2: 37,037,039 (GRCm39) T272S probably damaging Het
Or2f1 G A 6: 42,721,057 (GRCm39) V29I probably benign Het
Or4c10 G T 2: 89,760,449 (GRCm39) V99F possibly damaging Het
Or5ac19 A G 16: 59,089,518 (GRCm39) S171P probably benign Het
Or5ac24 A T 16: 59,165,425 (GRCm39) I213N probably damaging Het
Or5b96 T A 19: 12,867,513 (GRCm39) T143S probably benign Het
Or6c66 A G 10: 129,461,516 (GRCm39) V138A possibly damaging Het
Or8h10 A G 2: 86,809,020 (GRCm39) L40P probably damaging Het
Or8k41 A T 2: 86,313,582 (GRCm39) F168Y probably damaging Het
Plec G T 15: 76,068,038 (GRCm39) N1190K possibly damaging Het
Plin1 T C 7: 79,379,719 (GRCm39) T44A probably damaging Het
Pou3f2 TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 4: 22,487,697 (GRCm39) probably benign Het
Pramel22 A G 4: 143,383,204 (GRCm39) L5P probably damaging Het
Psg27 A G 7: 18,299,234 (GRCm39) L29P probably damaging Het
Psmd13 C A 7: 140,477,367 (GRCm39) T292N probably damaging Het
Rab1b A T 19: 5,154,684 (GRCm39) Y88* probably null Het
Reln T A 5: 22,104,027 (GRCm39) I3315L probably benign Het
Rmdn2 A T 17: 79,966,880 (GRCm39) M257L probably benign Het
Rnd1 A T 15: 98,574,435 (GRCm39) F47L probably damaging Het
Rnf41 G A 10: 128,274,076 (GRCm39) V243I probably benign Het
Rnf43 C G 11: 87,620,339 (GRCm39) S226R probably damaging Het
Scn5a A T 9: 119,362,993 (GRCm39) D542E probably damaging Het
Sema5b A T 16: 35,448,466 (GRCm39) I81F probably benign Het
Serinc5 G A 13: 92,819,285 (GRCm39) C73Y probably damaging Het
Serpina3g A T 12: 104,205,551 (GRCm39) N97Y possibly damaging Het
Shq1 A G 6: 100,614,033 (GRCm39) S262P probably damaging Het
Smad4 A T 18: 73,781,978 (GRCm39) I428N probably damaging Het
Snip1 G T 4: 124,966,613 (GRCm39) G348W probably damaging Het
Spg11 A G 2: 121,901,422 (GRCm39) L1506P probably damaging Het
Stard9 G A 2: 120,526,694 (GRCm39) V984I possibly damaging Het
Svopl A T 6: 38,006,635 (GRCm39) F121I possibly damaging Het
Tjp1 A T 7: 64,972,802 (GRCm39) V546E probably damaging Het
Tmem116 T A 5: 121,631,819 (GRCm39) F110L probably damaging Het
Ttyh2 C T 11: 114,601,714 (GRCm39) T446M probably benign Het
Tubb1 A T 2: 174,299,532 (GRCm39) I405L probably benign Het
Uba5 A T 9: 103,933,025 (GRCm39) F155L possibly damaging Het
Ubd C T 17: 37,506,212 (GRCm39) H33Y probably damaging Het
Ube3d A T 9: 86,322,648 (GRCm39) D175E probably benign Het
Usp24 A G 4: 106,278,157 (GRCm39) Q2293R probably benign Het
Vmn1r175 T A 7: 23,507,937 (GRCm39) H230L probably benign Het
Vmn1r88 A G 7: 12,912,060 (GRCm39) I139V probably benign Het
Vmn2r1 T C 3: 63,994,046 (GRCm39) F131L probably benign Het
Yipf3 T C 17: 46,562,155 (GRCm39) probably null Het
Zdhhc19 A G 16: 32,325,258 (GRCm39) K192R probably benign Het
Zfy1 G A Y: 725,611 (GRCm39) T718I probably damaging 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
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
R7986:Adamts1 UTSW 16 85,596,435 (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
Posted On 2014-01-15