Incidental Mutation 'R5420:Adamts1'
ID 428020
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 042988-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5420 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 85590715-85600001 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 85596497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 117 (C117*)
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: C380*
SMART Domains Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: C380*

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: C117*
SMART Domains Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: C117*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 97% (66/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 TGCGCAGC T 19: 4,915,372 (GRCm39) probably null Het
Adgrg6 A T 10: 14,302,730 (GRCm39) Y894* probably null Het
Alas1 G T 9: 106,111,358 (GRCm39) L603I probably benign Het
Arhgap21 G T 2: 20,885,897 (GRCm39) R427S probably damaging Het
Arhgef25 A T 10: 127,023,143 (GRCm39) V88D probably benign Het
Bdp1 T C 13: 100,202,551 (GRCm39) Q691R possibly damaging Het
Bpifa6 T A 2: 153,831,250 (GRCm39) I272N probably damaging Het
Cacybp T C 1: 160,035,914 (GRCm39) probably benign Het
Capn3 T C 2: 120,325,777 (GRCm39) probably benign Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cideb A C 14: 55,995,748 (GRCm39) M1R probably null Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Crebbp C T 16: 3,925,322 (GRCm39) R760H probably damaging Het
Cyp2c23 A C 19: 44,004,103 (GRCm39) probably null Het
Cyp3a13 T G 5: 137,897,243 (GRCm39) D357A probably damaging Het
Dip2b C T 15: 100,103,054 (GRCm39) probably benign Het
Ecm2 A T 13: 49,681,210 (GRCm39) R448S possibly damaging Het
Edil3 T C 13: 89,279,891 (GRCm39) Y190H probably damaging Het
Eps8l1 T G 7: 4,473,160 (GRCm39) probably null Het
Eps8l3 A T 3: 107,791,301 (GRCm39) K280* probably null Het
Fam184a A G 10: 53,509,753 (GRCm39) F1137L probably damaging Het
Fmn2 A T 1: 174,526,344 (GRCm39) R1388* probably null Het
Glt8d2 T C 10: 82,488,516 (GRCm39) K318R probably benign Het
Herc2 A T 7: 55,853,578 (GRCm39) K3690I probably damaging Het
Ifi206 T A 1: 173,308,599 (GRCm39) I466F possibly damaging Het
Jade2 T C 11: 51,709,434 (GRCm39) K525R probably benign Het
Kmt2a A T 9: 44,759,633 (GRCm39) F772I probably damaging Het
Lipi A G 16: 75,352,757 (GRCm39) V360A possibly damaging Het
Mbl1 C T 14: 40,879,153 (GRCm39) S108L possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mrpl23 A G 7: 142,089,874 (GRCm39) T25A probably damaging Het
Mto1 T A 9: 78,360,109 (GRCm39) M199K probably benign Het
Nes A T 3: 87,884,309 (GRCm39) N812I probably damaging Het
Nfkbie T A 17: 45,871,132 (GRCm39) D261E probably benign Het
Or7e173 T C 9: 19,938,355 (GRCm39) Y293C probably damaging Het
Pakap G A 4: 57,856,062 (GRCm39) V505I probably benign Het
Pakap T A 4: 57,856,434 (GRCm39) Y588N probably damaging Het
Papola A G 12: 105,772,754 (GRCm39) I114V possibly damaging Het
Pappa T G 4: 65,254,017 (GRCm39) probably null Het
Pcdh7 T A 5: 57,877,529 (GRCm39) D361E probably damaging Het
Pick1 A G 15: 79,133,040 (GRCm39) T367A probably benign Het
Plbd2 A G 5: 120,632,547 (GRCm39) Y152H probably damaging Het
Ppfia2 A T 10: 106,671,562 (GRCm39) E424D possibly damaging Het
Rab7b C T 1: 131,626,164 (GRCm39) T64I probably damaging Het
Rarb T A 14: 16,434,249 (GRCm38) I310F possibly damaging Het
Rdh16f2 C T 10: 127,712,943 (GRCm39) P314S possibly damaging Het
Rpain A T 11: 70,868,516 (GRCm39) probably null Het
Rufy3 T C 5: 88,788,518 (GRCm39) *488Q probably null Het
Sash1 G A 10: 8,621,950 (GRCm39) T398I probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scrn1 T A 6: 54,489,048 (GRCm39) I358F probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Thbs1 G T 2: 117,943,636 (GRCm39) D85Y possibly damaging Het
Thoc2l T A 5: 104,666,225 (GRCm39) I249N probably damaging Het
Trp53 T C 11: 69,479,146 (GRCm39) probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r223 A G 13: 23,433,675 (GRCm39) R90G probably benign Het
Zfp521 A T 18: 13,977,144 (GRCm39) Y1090N probably damaging Het
Zfp677 T C 17: 21,618,175 (GRCm39) C411R 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
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
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'- ACCCCTTCTAAAATTGCTGGTG -3'
(R):5'- TTTAGAGTCAGTCCTTCAAGTCC -3'

Sequencing Primer
(F):5'- CCTTCTAAAATTGCTGGTGGCTGAG -3'
(R):5'- GTCCTTCAAGTCCAGCAATAATG -3'
Posted On 2016-09-01