Incidental Mutation 'R0899:Adamts1'
ID 83814
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 039059-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0899 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 85590715-85600001 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 85594940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 340 (R340*)
Ref Sequence ENSEMBL: ENSMUSP00000118471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023610] [ENSMUST00000125897]
AlphaFold P97857
Predicted Effect probably null
Transcript: ENSMUST00000023610
AA Change: R603*
SMART Domains Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: R603*

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 null
Transcript: ENSMUST00000125897
AA Change: R340*
SMART Domains Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: R340*

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: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 93.6%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik T C 15: 84,833,459 (GRCm39) K442E probably damaging Het
Afg3l2 T C 18: 67,556,047 (GRCm39) N428S possibly damaging Het
Aqp12 G A 1: 92,934,332 (GRCm39) D70N probably damaging Het
Astn1 T A 1: 158,338,679 (GRCm39) C475* probably null Het
Atp2b1 G A 10: 98,852,893 (GRCm39) probably null Het
Cbln2 T C 18: 86,734,877 (GRCm39) S217P possibly damaging Het
Ces2h T C 8: 105,741,182 (GRCm39) L58P probably damaging Het
Cfap43 C T 19: 47,736,433 (GRCm39) G1353R possibly damaging Het
Crcp A G 5: 130,088,672 (GRCm39) M91V probably benign Het
Cubn A G 2: 13,367,139 (GRCm39) V1577A possibly damaging Het
Dthd1 A G 5: 63,000,271 (GRCm39) H531R probably benign Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fam3d A G 14: 8,364,863 (GRCm38) I16T probably damaging Het
Fat2 C T 11: 55,147,051 (GRCm39) G3982S probably damaging Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Fcnb T A 2: 27,966,791 (GRCm39) K247N probably damaging Het
Gtf2a1l A G 17: 88,976,152 (GRCm39) N5S Het
Htr3a T A 9: 48,812,752 (GRCm39) D229V possibly damaging Het
Ipo11 A C 13: 107,037,324 (GRCm39) L173* probably null Het
Jam3 C A 9: 27,010,253 (GRCm39) G244W probably damaging Het
Lypd11 C T 7: 24,422,737 (GRCm39) R112H probably benign Het
Mrpl52 C T 14: 54,664,541 (GRCm39) R12* probably null Het
Myo15a A G 11: 60,368,011 (GRCm39) Y257C possibly damaging Het
Myocd G A 11: 65,086,018 (GRCm39) P215L possibly damaging Het
Ndst1 T C 18: 60,840,954 (GRCm39) T243A probably benign Het
Obox5 A T 7: 15,492,800 (GRCm39) T252S probably benign Het
Or5m13b A G 2: 85,753,731 (GRCm39) T40A probably benign Het
Or6c75 T C 10: 129,337,301 (GRCm39) F183L probably damaging Het
Or7g34 A C 9: 19,477,843 (GRCm39) V276G probably damaging Het
Osbpl1a T C 18: 12,890,747 (GRCm39) S377G possibly damaging Het
Pfkl A G 10: 77,841,273 (GRCm39) probably null Het
Prdm16 A T 4: 154,613,366 (GRCm39) N20K probably damaging Het
Prkd1 A G 12: 50,431,976 (GRCm39) I589T probably damaging Het
Scnn1b G A 7: 121,516,938 (GRCm39) G525S probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Ttn A G 2: 76,718,329 (GRCm39) probably benign Het
Wap T C 11: 6,586,725 (GRCm39) T125A probably benign Het
Wdr86 C T 5: 24,923,005 (GRCm39) R229Q 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
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'- AGAACGACGGCGATGATGTTCC -3'
(R):5'- AGACAAACTCCTCTACCTGTGTCCC -3'

Sequencing Primer
(F):5'- GATGATGTTCCCAGTTTCCAAC -3'
(R):5'- CCCGTAGTGGGACTATGAGATG -3'
Posted On 2013-11-08