Incidental Mutation 'R0114:Adamts1'
ID 20680
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 038400-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0114 (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 A at 85596502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 379 (V379L)
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: V379L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: V379L

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
AA Change: V116L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: V116L

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 0.1595 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 93.2%
  • 20x: 79.2%
Validation Efficiency 100% (99/99)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T C 10: 28,861,978 (GRCm39) probably benign Het
4933427D14Rik T C 11: 72,086,625 (GRCm39) Y262C probably damaging Het
Akt3 T C 1: 176,894,817 (GRCm39) D260G probably damaging Het
Alms1 T C 6: 85,596,785 (GRCm39) L537P probably benign Het
Anln A T 9: 22,264,642 (GRCm39) I876N probably damaging Het
Ano9 A T 7: 140,683,152 (GRCm39) probably benign Het
Arhgef10l T C 4: 140,311,194 (GRCm39) E218G probably benign Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Atp9a G T 2: 168,552,776 (GRCm39) Y63* probably null Het
Bmpr2 G T 1: 59,854,499 (GRCm39) C116F probably damaging Het
Cand1 T C 10: 119,052,427 (GRCm39) D233G probably benign Het
Cftr A T 6: 18,282,447 (GRCm39) H1049L probably damaging Het
Ckap5 A T 2: 91,450,457 (GRCm39) D1975V possibly damaging Het
Cyp26c1 T C 19: 37,675,081 (GRCm39) V134A probably benign Het
Dnai1 T C 4: 41,605,686 (GRCm39) probably benign Het
Dpp10 T C 1: 123,413,821 (GRCm39) I163V probably benign Het
Fam151a A T 4: 106,591,201 (GRCm39) I15F possibly damaging Het
Fanca A T 8: 124,015,230 (GRCm39) probably null Het
Fes A G 7: 80,027,783 (GRCm39) V787A probably damaging Het
Fnip1 C T 11: 54,378,627 (GRCm39) probably benign Het
Gabpb1 A G 2: 126,495,494 (GRCm39) I86T probably damaging Het
Gmds A T 13: 32,411,264 (GRCm39) S57T probably benign Het
Gnpat T G 8: 125,610,096 (GRCm39) D426E probably benign Het
Gnptab C A 10: 88,269,262 (GRCm39) P655Q possibly damaging Het
Gpi-ps A G 8: 5,690,359 (GRCm39) noncoding transcript Het
Herc1 T A 9: 66,369,128 (GRCm39) F2941I probably damaging Het
Herc2 T C 7: 55,803,522 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Itga11 T G 9: 62,642,575 (GRCm39) V166G probably damaging Het
Itga11 T C 9: 62,667,584 (GRCm39) V639A possibly damaging Het
Itpr2 A G 6: 146,214,377 (GRCm39) F1490S probably damaging Het
Lama2 C A 10: 26,869,064 (GRCm39) E802* probably null Het
Lgi3 C T 14: 70,768,469 (GRCm39) probably benign Het
Limch1 C T 5: 67,193,427 (GRCm39) probably benign Het
Lipc T C 9: 70,711,063 (GRCm39) N363S probably damaging Het
Lrit2 A G 14: 36,790,002 (GRCm39) probably null Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mug2 A G 6: 122,017,607 (GRCm39) Y448C probably damaging Het
Mybpc3 A G 2: 90,954,839 (GRCm39) E450G probably damaging Het
Myo5b A T 18: 74,875,242 (GRCm39) T1549S probably benign Het
Naa15 T C 3: 51,355,859 (GRCm39) probably null Het
Nckap1l T A 15: 103,363,455 (GRCm39) C54S probably benign Het
Nlrp9b A G 7: 19,757,981 (GRCm39) D406G probably benign Het
Nprl3 T A 11: 32,189,784 (GRCm39) probably benign Het
Nvl A G 1: 180,947,956 (GRCm39) V429A probably benign Het
Opa1 A T 16: 29,448,453 (GRCm39) N912Y probably benign Het
Or14j3 A T 17: 37,900,306 (GRCm39) *313K probably null Het
Or1x2 G A 11: 50,918,431 (GRCm39) V201I probably benign Het
Or52b4i A T 7: 102,191,938 (GRCm39) Q265L probably benign Het
Or6c211 T A 10: 129,505,467 (GRCm39) Y307F probably benign Het
Pcnx1 T C 12: 82,042,869 (GRCm39) V2317A possibly damaging Het
Phf3 A T 1: 30,844,524 (GRCm39) N1478K possibly damaging Het
Phykpl G A 11: 51,477,480 (GRCm39) D91N probably benign Het
Polr2b T A 5: 77,491,110 (GRCm39) C984S probably damaging Het
Ppfibp1 A G 6: 146,899,731 (GRCm39) R141G probably benign Het
Ppm1d G A 11: 85,217,731 (GRCm39) G20R probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Ppp2r5b C A 19: 6,278,461 (GRCm39) V483F probably benign Het
Ppp4r4 T A 12: 103,542,633 (GRCm39) C132S probably benign Het
Prg2 A G 2: 84,813,800 (GRCm39) probably benign Het
Prpf4b G A 13: 35,074,471 (GRCm39) probably benign Het
Rad54l2 T C 9: 106,590,654 (GRCm39) T491A probably damaging Het
Rnf213 G T 11: 119,305,413 (GRCm39) W548L probably damaging Het
Rusc2 G T 4: 43,422,055 (GRCm39) C825F probably damaging Het
Sema4b A G 7: 79,868,826 (GRCm39) probably benign Het
Sema6a A G 18: 47,423,244 (GRCm39) V254A probably damaging Het
Slc13a3 A G 2: 165,266,501 (GRCm39) F346L probably damaging Het
Slc25a17 T C 15: 81,222,160 (GRCm39) D104G probably damaging Het
Specc1 A T 11: 62,037,139 (GRCm39) N707Y possibly damaging Het
Tex48 T A 4: 63,526,696 (GRCm39) E76V probably damaging Het
Tfr2 T C 5: 137,575,727 (GRCm39) V281A probably benign Het
Tgfb1i1 A C 7: 127,848,666 (GRCm39) Q238H probably damaging Het
Thoc6 G A 17: 23,889,213 (GRCm39) T122I probably benign Het
Tmtc1 G A 6: 148,314,328 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 145,014,617 (GRCm39) D264G possibly damaging Het
Trim43a T A 9: 88,466,213 (GRCm39) I178N probably damaging Het
Ttn G C 2: 76,537,437 (GRCm39) I26503M possibly damaging Het
Usp28 C A 9: 48,950,323 (GRCm39) D589E probably benign Het
Utp23 T C 15: 51,745,907 (GRCm39) S242P probably damaging Het
Vwa3a A G 7: 120,374,603 (GRCm39) Y305C probably benign Het
Vwa5b1 C A 4: 138,336,169 (GRCm39) E142* probably null Het
Xrn2 A T 2: 146,871,699 (GRCm39) T374S probably damaging Het
Zfp735 A T 11: 73,601,488 (GRCm39) Q144L 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
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
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'- AGCTGGCACAGTGCTTAGCATC -3'
(R):5'- CAGGCTTCAAAGTGCATGTGAAGAC -3'

Sequencing Primer
(F):5'- GCATGTTAAACACATGGCCTG -3'
(R):5'- TGTGAAGACATGCCCAACTG -3'
Posted On 2013-04-11