Incidental Mutation 'R6332:Adamtsl1'
ID 513159
Institutional Source Beutler Lab
Gene Symbol Adamtsl1
Ensembl Gene ENSMUSG00000066113
Gene Name ADAMTS-like 1
Synonyms punctin-1, 5930437A14Rik, 6720426B09Rik
MMRRC Submission 044486-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.238) question?
Stock # R6332 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 85432409-86346622 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86135248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 258 (K258E)
Ref Sequence ENSEMBL: ENSMUSP00000102796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048885] [ENSMUST00000107178] [ENSMUST00000141889]
AlphaFold Q8BLI0
Predicted Effect possibly damaging
Transcript: ENSMUST00000048885
AA Change: K258E

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043073
Gene: ENSMUSG00000066113
AA Change: K258E

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
TSP1 36 82 8.95e-7 SMART
TSP1 301 360 4.35e-2 SMART
TSP1 379 438 2.05e-2 SMART
TSP1 439 493 3.99e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107178
AA Change: K258E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: K258E

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
TSP1 36 82 8.95e-7 SMART
TSP1 301 360 4.35e-2 SMART
TSP1 362 421 2.05e-2 SMART
TSP1 422 476 3.99e-4 SMART
TSP1 508 567 6.39e-3 SMART
TSP1 593 650 7.86e-3 SMART
TSP1 652 712 3.78e-5 SMART
TSP1 715 772 2.66e-2 SMART
TSP1 774 833 1.62e-4 SMART
IGc2 873 937 4.19e-6 SMART
low complexity region 1123 1142 N/A INTRINSIC
IGc2 1175 1240 1.31e-7 SMART
IGc2 1282 1351 7.81e-15 SMART
IGc2 1400 1467 2.39e-10 SMART
TSP1 1481 1537 2.12e-1 SMART
TSP1 1540 1599 1.74e-4 SMART
TSP1 1600 1658 8.2e0 SMART
TSP1 1660 1717 1.96e-1 SMART
Pfam:PLAC 1721 1751 1.4e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000136320
AA Change: K86E
SMART Domains Protein: ENSMUSP00000123343
Gene: ENSMUSG00000066113
AA Change: K86E

DomainStartEndE-ValueType
Pfam:ADAM_spacer1 15 125 2.7e-7 PFAM
TSP1 130 189 4.35e-2 SMART
TSP1 191 239 1.36e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000141889
AA Change: K258E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: K258E

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
TSP1 36 82 8.95e-7 SMART
TSP1 301 360 4.35e-2 SMART
TSP1 379 438 2.05e-2 SMART
TSP1 439 493 3.99e-4 SMART
TSP1 525 584 6.39e-3 SMART
TSP1 610 667 7.86e-3 SMART
TSP1 707 764 2.66e-2 SMART
TSP1 766 825 1.62e-4 SMART
IGc2 865 929 4.19e-6 SMART
low complexity region 1115 1134 N/A INTRINSIC
IGc2 1167 1232 1.31e-7 SMART
IGc2 1274 1343 7.81e-15 SMART
IGc2 1392 1459 2.39e-10 SMART
TSP1 1473 1529 2.12e-1 SMART
TSP1 1532 1591 1.74e-4 SMART
TSP1 1592 1650 8.2e0 SMART
TSP1 1652 1709 1.96e-1 SMART
Pfam:PLAC 1712 1744 5.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150043
Meta Mutation Damage Score 0.1028 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik C A 7: 42,095,667 (GRCm39) G194C possibly damaging Het
Afdn A T 17: 14,030,707 (GRCm39) D206V possibly damaging Het
Agt G T 8: 125,284,572 (GRCm39) Q389K possibly damaging Het
Ankrd44 A T 1: 54,801,432 (GRCm39) D298E probably damaging Het
Anks1 A G 17: 28,271,709 (GRCm39) S897G probably benign Het
Apol9b A G 15: 77,619,746 (GRCm39) probably null Het
Baz1a T C 12: 54,965,339 (GRCm39) E705G probably benign Het
BC048679 C T 7: 81,144,966 (GRCm39) V126M probably benign Het
Cep295 A G 9: 15,246,210 (GRCm39) F749L possibly damaging Het
Cntrl T A 2: 35,018,036 (GRCm39) I482K possibly damaging Het
Col6a3 A G 1: 90,749,955 (GRCm39) F293S probably damaging Het
Dnah12 T G 14: 26,439,129 (GRCm39) M527R probably damaging Het
Dnhd1 G A 7: 105,343,273 (GRCm39) R1539H probably benign Het
Ece1 A G 4: 137,685,319 (GRCm39) Y603C probably damaging Het
Eea1 G A 10: 95,877,335 (GRCm39) A1350T possibly damaging Het
Exoc3l4 A T 12: 111,394,402 (GRCm39) K507N possibly damaging Het
Flt3l A T 7: 44,783,091 (GRCm39) probably null Het
Fn1 T C 1: 71,667,230 (GRCm39) Q834R probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hycc2 T A 1: 58,569,034 (GRCm39) Y515F probably damaging Het
Ifih1 T C 2: 62,469,827 (GRCm39) N157D possibly damaging Het
Itga2 A C 13: 114,980,009 (GRCm39) M1064R probably benign Het
Itgae A G 11: 73,002,228 (GRCm39) probably null Het
Krtap10-4 T C 10: 77,662,883 (GRCm39) probably benign Het
Lamp3 A G 16: 19,518,431 (GRCm39) C269R probably damaging Het
Lrp5 T C 19: 3,709,355 (GRCm39) D125G probably damaging Het
Matn2 A C 15: 34,423,901 (GRCm39) E586D probably benign Het
Mef2b T A 8: 70,616,789 (GRCm39) probably null Het
Mrps22 A G 9: 98,483,524 (GRCm39) probably null Het
Mtmr2 T C 9: 13,711,325 (GRCm39) F445L probably damaging Het
Nxph4 A G 10: 127,362,237 (GRCm39) V218A probably damaging Het
Or1e23 A G 11: 73,408,001 (GRCm39) V8A probably benign Het
Or4f57 C T 2: 111,791,091 (GRCm39) G109D probably damaging Het
Or51k1 A G 7: 103,660,980 (GRCm39) S310P probably benign Het
Pdpk1 A T 17: 24,325,896 (GRCm39) V100D probably damaging Het
Phldb2 A C 16: 45,594,609 (GRCm39) S899A probably benign Het
Pnpla3 G A 15: 84,056,983 (GRCm39) probably null Het
Rasal2 A G 1: 157,126,757 (GRCm39) Y94H probably damaging Het
Rlf A T 4: 121,006,019 (GRCm39) I987N possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rprd2 A G 3: 95,687,753 (GRCm39) Y300H probably damaging Het
Setbp1 G A 18: 78,826,584 (GRCm39) S1343L probably benign Het
Sfswap A G 5: 129,648,105 (GRCm39) K938E possibly damaging Het
Shld2 A G 14: 33,990,129 (GRCm39) V259A probably benign Het
Slc3a1 A C 17: 85,335,860 (GRCm39) M1L probably damaging Het
Slco5a1 C T 1: 12,991,409 (GRCm39) V427I probably benign Het
Ssbp2 A T 13: 91,839,027 (GRCm39) M300L probably benign Het
Ssc5d A G 7: 4,940,521 (GRCm39) D878G probably damaging Het
Stk19 A G 17: 35,043,574 (GRCm39) L212P probably damaging Het
Stk39 T C 2: 68,240,387 (GRCm39) M115V possibly damaging Het
Syt17 A C 7: 118,033,466 (GRCm39) S181A probably benign Het
Taar7b A T 10: 23,875,849 (GRCm39) N5Y probably benign Het
Tmc4 A G 7: 3,680,421 (GRCm39) probably null Het
Tmem248 T A 5: 130,258,310 (GRCm39) M1K probably null Het
Tmem82 T A 4: 141,343,721 (GRCm39) Q183L probably damaging Het
Tpd52l1 T C 10: 31,214,203 (GRCm39) E142G probably damaging Het
Ttll2 A T 17: 7,619,167 (GRCm39) H253Q probably damaging Het
Ttn T C 2: 76,687,808 (GRCm39) probably benign Het
Ubd A G 17: 37,506,392 (GRCm39) K93E probably benign Het
Ugt2b35 T A 5: 87,149,415 (GRCm39) F222Y probably damaging Het
Vmn2r10 G T 5: 109,151,328 (GRCm39) N95K probably damaging Het
Vwa8 T C 14: 79,434,904 (GRCm39) V1775A probably benign Het
Zdbf2 A G 1: 63,346,981 (GRCm39) K1787E possibly damaging Het
Zfp26 A T 9: 20,348,582 (GRCm39) F661I probably damaging Het
Zfp735 A T 11: 73,602,504 (GRCm39) K483* probably null Het
Zfp946 A G 17: 22,673,519 (GRCm39) E91G probably damaging Het
Zic5 C A 14: 122,697,161 (GRCm39) D485Y unknown Het
Zmynd8 A T 2: 165,680,772 (GRCm39) D236E probably damaging Het
Other mutations in Adamtsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Adamtsl1 APN 4 86,303,877 (GRCm39) missense probably benign 0.01
IGL00741:Adamtsl1 APN 4 86,195,185 (GRCm39) missense probably damaging 1.00
IGL00770:Adamtsl1 APN 4 86,306,776 (GRCm39) missense possibly damaging 0.65
IGL00774:Adamtsl1 APN 4 86,306,776 (GRCm39) missense possibly damaging 0.65
IGL00826:Adamtsl1 APN 4 86,075,041 (GRCm39) missense probably damaging 1.00
IGL00938:Adamtsl1 APN 4 86,260,515 (GRCm39) missense possibly damaging 0.93
IGL01012:Adamtsl1 APN 4 86,260,426 (GRCm39) missense possibly damaging 0.93
IGL01728:Adamtsl1 APN 4 86,029,074 (GRCm39) missense probably damaging 1.00
IGL01801:Adamtsl1 APN 4 86,117,559 (GRCm39) missense probably benign 0.23
IGL01922:Adamtsl1 APN 4 86,168,139 (GRCm39) missense probably damaging 1.00
IGL02006:Adamtsl1 APN 4 86,117,582 (GRCm39) missense probably damaging 1.00
IGL02192:Adamtsl1 APN 4 86,146,253 (GRCm39) missense probably damaging 1.00
IGL02351:Adamtsl1 APN 4 86,075,110 (GRCm39) critical splice donor site probably null
IGL02358:Adamtsl1 APN 4 86,075,110 (GRCm39) critical splice donor site probably null
IGL02373:Adamtsl1 APN 4 86,168,042 (GRCm39) missense probably damaging 1.00
IGL02660:Adamtsl1 APN 4 86,150,847 (GRCm39) missense probably damaging 1.00
IGL02964:Adamtsl1 APN 4 86,342,594 (GRCm39) missense probably damaging 1.00
IGL03233:Adamtsl1 APN 4 86,260,357 (GRCm39) missense probably damaging 1.00
IGL03297:Adamtsl1 APN 4 86,341,663 (GRCm39) missense probably damaging 0.98
IGL03326:Adamtsl1 APN 4 86,170,985 (GRCm39) splice site probably benign
PIT4378001:Adamtsl1 UTSW 4 86,117,601 (GRCm39) missense possibly damaging 0.93
PIT4418001:Adamtsl1 UTSW 4 86,161,961 (GRCm39) missense probably damaging 1.00
R0131:Adamtsl1 UTSW 4 86,260,960 (GRCm39) missense possibly damaging 0.94
R0131:Adamtsl1 UTSW 4 86,260,960 (GRCm39) missense possibly damaging 0.94
R0132:Adamtsl1 UTSW 4 86,260,960 (GRCm39) missense possibly damaging 0.94
R0453:Adamtsl1 UTSW 4 86,150,852 (GRCm39) missense probably damaging 1.00
R0480:Adamtsl1 UTSW 4 86,171,055 (GRCm39) missense probably benign 0.08
R0496:Adamtsl1 UTSW 4 86,259,435 (GRCm39) missense probably damaging 1.00
R0538:Adamtsl1 UTSW 4 86,261,358 (GRCm39) missense probably benign 0.27
R0547:Adamtsl1 UTSW 4 86,274,592 (GRCm39) missense probably benign 0.37
R0567:Adamtsl1 UTSW 4 86,146,253 (GRCm39) missense probably damaging 1.00
R0568:Adamtsl1 UTSW 4 86,336,789 (GRCm39) missense probably damaging 1.00
R0639:Adamtsl1 UTSW 4 86,195,380 (GRCm39) missense probably damaging 1.00
R0931:Adamtsl1 UTSW 4 86,168,084 (GRCm39) missense probably benign 0.05
R1186:Adamtsl1 UTSW 4 86,306,746 (GRCm39) missense probably benign 0.00
R1387:Adamtsl1 UTSW 4 86,293,230 (GRCm39) splice site probably benign
R1459:Adamtsl1 UTSW 4 86,344,102 (GRCm39) missense probably damaging 1.00
R1518:Adamtsl1 UTSW 4 86,260,840 (GRCm39) missense probably damaging 0.99
R1532:Adamtsl1 UTSW 4 86,166,302 (GRCm39) missense probably benign 0.02
R1603:Adamtsl1 UTSW 4 86,333,767 (GRCm39) missense probably benign
R1931:Adamtsl1 UTSW 4 86,260,648 (GRCm39) missense possibly damaging 0.62
R2086:Adamtsl1 UTSW 4 86,146,249 (GRCm39) missense probably damaging 1.00
R2221:Adamtsl1 UTSW 4 86,306,762 (GRCm39) missense probably benign 0.19
R2223:Adamtsl1 UTSW 4 86,306,762 (GRCm39) missense probably benign 0.19
R2396:Adamtsl1 UTSW 4 86,261,356 (GRCm39) nonsense probably null
R2397:Adamtsl1 UTSW 4 86,117,594 (GRCm39) missense probably damaging 1.00
R2426:Adamtsl1 UTSW 4 86,075,025 (GRCm39) missense probably benign 0.01
R3121:Adamtsl1 UTSW 4 86,255,246 (GRCm39) missense probably damaging 1.00
R3715:Adamtsl1 UTSW 4 86,135,213 (GRCm39) missense probably benign 0.01
R3848:Adamtsl1 UTSW 4 86,336,783 (GRCm39) missense probably damaging 1.00
R3849:Adamtsl1 UTSW 4 86,336,783 (GRCm39) missense probably damaging 1.00
R3850:Adamtsl1 UTSW 4 86,336,783 (GRCm39) missense probably damaging 1.00
R4194:Adamtsl1 UTSW 4 85,972,245 (GRCm39) intron probably benign
R4354:Adamtsl1 UTSW 4 86,074,921 (GRCm39) missense probably damaging 1.00
R4795:Adamtsl1 UTSW 4 86,162,006 (GRCm39) critical splice donor site probably null
R4830:Adamtsl1 UTSW 4 86,274,619 (GRCm39) missense probably damaging 0.97
R4874:Adamtsl1 UTSW 4 86,260,729 (GRCm39) missense possibly damaging 0.94
R4939:Adamtsl1 UTSW 4 86,161,962 (GRCm39) missense possibly damaging 0.95
R4942:Adamtsl1 UTSW 4 86,259,451 (GRCm39) nonsense probably null
R4947:Adamtsl1 UTSW 4 85,683,037 (GRCm39) missense possibly damaging 0.93
R4960:Adamtsl1 UTSW 4 86,342,410 (GRCm39) nonsense probably null
R4971:Adamtsl1 UTSW 4 86,255,168 (GRCm39) missense probably damaging 1.00
R5141:Adamtsl1 UTSW 4 86,075,087 (GRCm39) missense possibly damaging 0.77
R5213:Adamtsl1 UTSW 4 86,303,865 (GRCm39) missense possibly damaging 0.89
R5237:Adamtsl1 UTSW 4 86,303,906 (GRCm39) critical splice donor site probably null
R5250:Adamtsl1 UTSW 4 86,135,182 (GRCm39) nonsense probably null
R5411:Adamtsl1 UTSW 4 86,306,650 (GRCm39) critical splice acceptor site probably null
R5554:Adamtsl1 UTSW 4 86,195,182 (GRCm39) missense possibly damaging 0.69
R5631:Adamtsl1 UTSW 4 86,195,160 (GRCm39) nonsense probably null
R5739:Adamtsl1 UTSW 4 86,150,901 (GRCm39) missense probably damaging 1.00
R5905:Adamtsl1 UTSW 4 86,260,561 (GRCm39) missense probably damaging 1.00
R6028:Adamtsl1 UTSW 4 86,260,561 (GRCm39) missense probably damaging 1.00
R6044:Adamtsl1 UTSW 4 86,130,928 (GRCm39) missense probably damaging 1.00
R6261:Adamtsl1 UTSW 4 86,255,115 (GRCm39) missense probably benign 0.09
R6300:Adamtsl1 UTSW 4 86,166,254 (GRCm39) missense probably damaging 1.00
R6560:Adamtsl1 UTSW 4 86,255,130 (GRCm39) missense probably damaging 1.00
R6693:Adamtsl1 UTSW 4 86,261,123 (GRCm39) missense probably benign 0.27
R6736:Adamtsl1 UTSW 4 86,260,484 (GRCm39) missense probably damaging 1.00
R6964:Adamtsl1 UTSW 4 86,075,091 (GRCm39) missense probably damaging 1.00
R7064:Adamtsl1 UTSW 4 86,260,278 (GRCm39) missense possibly damaging 0.80
R7434:Adamtsl1 UTSW 4 86,344,115 (GRCm39) missense probably damaging 0.99
R7477:Adamtsl1 UTSW 4 86,333,888 (GRCm39) missense probably damaging 1.00
R7545:Adamtsl1 UTSW 4 85,683,092 (GRCm39) missense probably damaging 1.00
R7556:Adamtsl1 UTSW 4 86,195,358 (GRCm39) missense probably benign 0.19
R7580:Adamtsl1 UTSW 4 85,972,301 (GRCm39) missense possibly damaging 0.53
R7593:Adamtsl1 UTSW 4 86,259,450 (GRCm39) missense probably damaging 1.00
R7710:Adamtsl1 UTSW 4 86,150,810 (GRCm39) missense
R7908:Adamtsl1 UTSW 4 86,274,676 (GRCm39) missense probably benign 0.02
R7934:Adamtsl1 UTSW 4 86,161,962 (GRCm39) missense probably damaging 1.00
R8056:Adamtsl1 UTSW 4 86,260,269 (GRCm39) missense possibly damaging 0.76
R8109:Adamtsl1 UTSW 4 86,166,306 (GRCm39) missense
R8143:Adamtsl1 UTSW 4 86,260,492 (GRCm39) missense possibly damaging 0.71
R8205:Adamtsl1 UTSW 4 86,117,650 (GRCm39) makesense probably null
R8215:Adamtsl1 UTSW 4 86,261,382 (GRCm39) missense probably benign 0.45
R8250:Adamtsl1 UTSW 4 86,260,846 (GRCm39) missense probably damaging 1.00
R8261:Adamtsl1 UTSW 4 86,195,120 (GRCm39) missense probably damaging 0.99
R8417:Adamtsl1 UTSW 4 86,074,926 (GRCm39) missense possibly damaging 0.81
R8494:Adamtsl1 UTSW 4 86,240,221 (GRCm39) missense probably damaging 0.99
R8516:Adamtsl1 UTSW 4 86,260,780 (GRCm39) missense probably damaging 1.00
R8525:Adamtsl1 UTSW 4 86,195,247 (GRCm39) missense probably damaging 1.00
R8688:Adamtsl1 UTSW 4 86,166,263 (GRCm39) missense
R8698:Adamtsl1 UTSW 4 86,306,714 (GRCm39) missense probably benign 0.01
R8778:Adamtsl1 UTSW 4 85,432,687 (GRCm39) missense probably benign 0.01
R9015:Adamtsl1 UTSW 4 86,150,847 (GRCm39) missense probably damaging 1.00
R9127:Adamtsl1 UTSW 4 86,208,027 (GRCm39) missense probably benign
R9326:Adamtsl1 UTSW 4 86,150,804 (GRCm39) missense possibly damaging 0.70
R9336:Adamtsl1 UTSW 4 86,240,264 (GRCm39) missense probably benign 0.00
R9394:Adamtsl1 UTSW 4 86,135,225 (GRCm39) missense
R9416:Adamtsl1 UTSW 4 86,342,477 (GRCm39) missense probably damaging 1.00
R9571:Adamtsl1 UTSW 4 86,117,543 (GRCm39) missense probably benign 0.00
R9627:Adamtsl1 UTSW 4 86,306,762 (GRCm39) missense possibly damaging 0.48
R9675:Adamtsl1 UTSW 4 86,161,989 (GRCm39) missense probably damaging 1.00
R9798:Adamtsl1 UTSW 4 86,074,927 (GRCm39) missense probably damaging 0.98
Z1176:Adamtsl1 UTSW 4 86,260,930 (GRCm39) missense probably benign 0.30
Z1176:Adamtsl1 UTSW 4 86,260,414 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAATGTGTTTGCATGTGCTCAG -3'
(R):5'- GCTACGTATGTGAGGCCATTTG -3'

Sequencing Primer
(F):5'- ATGTGCTCAGTGGTAGCCC -3'
(R):5'- TTTCTGGGTAAAGCATACATACAC -3'
Posted On 2018-04-27