Incidental Mutation 'R0179:Adamts1'
ID 23071
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 038447-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0179 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 16
Chromosomal Location 85590715-85600001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 85592353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 948 (S948N)
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: S948N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: S948N

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
Meta Mutation Damage Score 0.0907 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 98% (81/83)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A T 12: 88,425,942 (GRCm39) M457L possibly damaging Het
Adprm A T 11: 66,929,051 (GRCm39) H313Q possibly damaging Het
Adss1 T C 12: 112,598,703 (GRCm39) I104T probably benign Het
Agxt2 A C 15: 10,399,134 (GRCm39) Q435P possibly damaging Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Ankrd50 A G 3: 38,509,463 (GRCm39) V968A possibly damaging Het
Brf2 T C 8: 27,615,896 (GRCm39) D163G possibly damaging Het
Cd226 C A 18: 89,225,263 (GRCm39) N53K probably benign Het
Cdc42ep2 T C 19: 5,968,636 (GRCm39) D23G probably benign Het
Cdc7 T C 5: 107,112,905 (GRCm39) S8P probably benign Het
Cdh8 C T 8: 99,838,344 (GRCm39) E499K possibly damaging Het
Chd7 T A 4: 8,862,516 (GRCm39) F2534L probably benign Het
Ckb T C 12: 111,636,610 (GRCm39) T255A probably benign Het
Cntnap5c G T 17: 58,076,620 (GRCm39) W19L probably benign Het
Cntrl A G 2: 35,057,871 (GRCm39) E1854G probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cop1 A G 1: 159,077,636 (GRCm39) D157G probably benign Het
Csf2rb A C 15: 78,220,572 (GRCm39) Q38P possibly damaging Het
Ctla2b T C 13: 61,044,107 (GRCm39) D52G possibly damaging Het
Dcaf7 A T 11: 105,942,623 (GRCm39) D190V probably damaging Het
Depdc5 T A 5: 33,058,918 (GRCm39) probably benign Het
Dgkq A G 5: 108,806,066 (GRCm39) probably benign Het
Dhrs2 A G 14: 55,477,933 (GRCm39) T222A probably damaging Het
Dock1 G A 7: 134,700,566 (GRCm39) D1109N probably damaging Het
E4f1 G C 17: 24,670,411 (GRCm39) T92S possibly damaging Het
Ep400 A T 5: 110,816,515 (GRCm39) S2669T probably damaging Het
Eprs1 T G 1: 185,145,744 (GRCm39) D1184E probably benign Het
Fpr-rs4 A T 17: 18,242,289 (GRCm39) K99* probably null Het
Fzr1 A T 10: 81,204,904 (GRCm39) probably benign Het
Gcc2 C T 10: 58,112,472 (GRCm39) R1001C probably benign Het
Gm4884 A G 7: 40,693,252 (GRCm39) D407G probably benign Het
Golga4 A T 9: 118,389,808 (GRCm39) probably null Het
Gp2 T G 7: 119,051,540 (GRCm39) D225A possibly damaging Het
Gramd1a T A 7: 30,841,843 (GRCm39) T120S probably damaging Het
Hbb-bh2 T A 7: 103,488,434 (GRCm39) N121I probably benign Het
Htr6 A T 4: 138,789,437 (GRCm39) L276Q probably damaging Het
Itga9 A T 9: 118,490,454 (GRCm39) I262F probably benign Het
Lamc3 A G 2: 31,805,096 (GRCm39) probably benign Het
Large1 T C 8: 73,825,474 (GRCm39) N200S probably benign Het
Lct C T 1: 128,255,422 (GRCm39) V207I probably benign Het
Marf1 C A 16: 13,969,040 (GRCm39) L144F probably damaging Het
Morc2b A T 17: 33,355,956 (GRCm39) Y605* probably null Het
Mtus1 G T 8: 41,455,398 (GRCm39) L87I possibly damaging Het
Muc2 A G 7: 141,302,708 (GRCm39) Y17C probably damaging Het
Myf5 T C 10: 107,321,779 (GRCm39) D5G possibly damaging Het
Nasp C T 4: 116,459,354 (GRCm39) V375M probably damaging Het
Nr1h2 A T 7: 44,201,689 (GRCm39) probably null Het
Nrg2 T C 18: 36,155,468 (GRCm39) Q447R probably benign Het
Ntn5 G A 7: 45,335,737 (GRCm39) G56D probably damaging Het
Oasl2 A G 5: 115,048,973 (GRCm39) R138G probably benign Het
Or4c29 A T 2: 88,740,237 (GRCm39) C167S possibly damaging Het
Or5b124 T A 19: 13,610,504 (GRCm39) F10I probably damaging Het
Or9k7 T C 10: 130,046,207 (GRCm39) Y264C probably damaging Het
Pcdhb5 G A 18: 37,455,612 (GRCm39) G664D probably damaging Het
Ppp1r15a T C 7: 45,174,424 (GRCm39) E128G probably damaging Het
Prpf19 T C 19: 10,875,172 (GRCm39) probably benign Het
Ptpn3 T A 4: 57,270,118 (GRCm39) T15S probably benign Het
R3hdm2 G A 10: 127,330,975 (GRCm39) C818Y probably damaging Het
Rad51d A G 11: 82,780,824 (GRCm39) V39A possibly damaging Het
Rptor A T 11: 119,763,193 (GRCm39) T926S probably benign Het
Rwdd4a G A 8: 47,995,742 (GRCm39) D41N probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Spata31g1 T C 4: 42,972,214 (GRCm39) S516P probably benign Het
Ssbp3 T C 4: 106,903,585 (GRCm39) S334P probably damaging Het
Suco A G 1: 161,703,874 (GRCm39) probably benign Het
Synj1 T C 16: 90,761,519 (GRCm39) K649R possibly damaging Het
Tdp2 C T 13: 25,024,431 (GRCm39) H243Y possibly damaging Het
Tinag A G 9: 76,904,164 (GRCm39) probably benign Het
Trerf1 T C 17: 47,627,588 (GRCm39) noncoding transcript Het
Trip10 T C 17: 57,569,349 (GRCm39) probably benign Het
Tsen54 A T 11: 115,712,856 (GRCm39) S131C probably damaging Het
Unc5c A T 3: 141,523,828 (GRCm39) R794* probably null Het
Vmn2r59 A T 7: 41,696,432 (GRCm39) Y103* probably null Het
Washc5 A G 15: 59,224,379 (GRCm39) V460A probably benign Het
Wdr87-ps A G 7: 29,235,365 (GRCm39) noncoding transcript Het
Whamm A G 7: 81,243,763 (GRCm39) T358A probably benign Het
Xlr4b C T X: 72,262,277 (GRCm39) probably benign Het
Zbbx C T 3: 74,992,869 (GRCm39) probably benign Het
Zdhhc23 G A 16: 43,794,066 (GRCm39) P203S probably benign Het
Zfp27 T A 7: 29,595,850 (GRCm39) E38D possibly 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
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
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 PCR Primer
(F):5'- GGTCTTTCAGATGCTACTGTGCCTC -3'
(R):5'- TAACGGACACCCTGCTTCCGAATG -3'

Sequencing Primer
(F):5'- CCTTATCAGAATGTAACTGGCAGG -3'
(R):5'- CTGCTTCCGAATGTGCAAAG -3'
Posted On 2013-04-16