Incidental Mutation 'R5554:Adamtsl1'
ID 435273
Institutional Source Beutler Lab
Gene Symbol Adamtsl1
Ensembl Gene ENSMUSG00000066113
Gene Name ADAMTS-like 1
Synonyms punctin-1, 5930437A14Rik, 6720426B09Rik
MMRRC Submission 043111-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.238) question?
Stock # R5554 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 85432409-86346622 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86195182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 533 (Q533R)
Ref Sequence ENSEMBL: ENSMUSP00000102796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107178] [ENSMUST00000141889]
AlphaFold Q8BLI0
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107177
Predicted Effect possibly damaging
Transcript: ENSMUST00000107178
AA Change: Q533R

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: Q533R

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 noncoding transcript
Transcript: ENSMUST00000136418
Predicted Effect probably benign
Transcript: ENSMUST00000141889
AA Change: Q550R

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: Q550R

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
Meta Mutation Damage Score 0.1414 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 97% (73/75)
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
Aarsd1 C A 11: 101,304,807 (GRCm39) R227L probably benign Het
Adgb C T 10: 10,216,217 (GRCm39) R1524H probably damaging Het
Ank2 A T 3: 126,792,622 (GRCm39) N739K possibly damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Anxa10 G A 8: 62,514,080 (GRCm39) P249L possibly damaging Het
Banp G A 8: 122,718,334 (GRCm39) E183K probably damaging Het
BC051665 C G 13: 60,932,435 (GRCm39) L83F probably damaging Het
Btn1a1 A T 13: 23,643,295 (GRCm39) F385I possibly damaging Het
Chchd4 A T 6: 91,441,999 (GRCm39) *140R probably null Het
Dcpp2 T C 17: 24,119,545 (GRCm39) Y120H probably damaging Het
Dlx2 G A 2: 71,375,805 (GRCm39) R173C possibly damaging Het
Dmbt1 C A 7: 130,701,030 (GRCm39) Y1069* probably null Het
Dop1a T A 9: 86,403,710 (GRCm39) F1637I probably damaging Het
Dusp18 T C 11: 3,847,202 (GRCm39) I64T probably damaging Het
Evi5l A G 8: 4,256,491 (GRCm39) probably benign Het
Fiz1 T C 7: 5,015,849 (GRCm39) H47R probably damaging Het
Fndc3b G T 3: 27,697,162 (GRCm39) P17T possibly damaging Het
Foxa1 T A 12: 57,589,077 (GRCm39) Q381L probably benign Het
Gda A G 19: 21,405,837 (GRCm39) probably null Het
Gm10044 T C 14: 7,771,181 (GRCm38) noncoding transcript Het
Gm12258 T A 11: 58,749,294 (GRCm39) S156R possibly damaging Het
Gm973 A G 1: 59,566,131 (GRCm39) R117G probably benign Het
Grwd1 C T 7: 45,480,064 (GRCm39) V48I probably damaging Het
Ifi209 T A 1: 173,468,763 (GRCm39) S198T probably benign Het
Inka2 T A 3: 105,623,930 (GRCm39) S82R possibly damaging Het
Itga1 A T 13: 115,129,010 (GRCm39) C549* probably null Het
Kmt2c C A 5: 25,499,608 (GRCm39) G511C probably damaging Het
Knstrn T C 2: 118,664,444 (GRCm39) probably benign Het
Lrp2 T C 2: 69,382,768 (GRCm39) Y39C possibly damaging Het
Maco1 T C 4: 134,555,445 (GRCm39) I343V probably benign Het
Micos10 T C 4: 138,833,218 (GRCm39) probably benign Het
N4bp2 T C 5: 65,965,457 (GRCm39) Y1169H probably benign Het
Nbr1 C T 11: 101,455,633 (GRCm39) T129I probably benign Het
Or52e8 A C 7: 104,625,189 (GRCm39) M1R probably null Het
Or5k15 A T 16: 58,710,169 (GRCm39) M138K possibly damaging Het
Or7g25 T C 9: 19,160,039 (GRCm39) I219V probably benign Het
Oxct1 T A 15: 4,120,677 (GRCm39) F254I probably benign Het
Patj T A 4: 98,342,633 (GRCm39) S576T possibly damaging Het
Pdxdc1 A T 16: 13,690,363 (GRCm39) C202S probably benign Het
Pet100 A T 8: 3,672,381 (GRCm39) I19F probably damaging Het
Pik3r5 T C 11: 68,385,059 (GRCm39) Y655H probably damaging Het
Pkhd1 A G 1: 20,151,476 (GRCm39) S3807P probably damaging Het
Ptma A G 1: 86,454,649 (GRCm39) T8A probably damaging Het
Ptpn3 G T 4: 57,240,843 (GRCm39) N257K probably damaging Het
R3hdm1 C A 1: 128,164,409 (GRCm39) Q1108K probably benign Het
Rimbp2 T C 5: 128,857,406 (GRCm39) D815G probably damaging Het
Scn10a A G 9: 119,523,196 (GRCm39) F66L probably benign Het
Selenot T C 3: 58,484,296 (GRCm39) probably null Het
Serpinb8 A G 1: 107,526,705 (GRCm39) T82A probably benign Het
Serpini2 G A 3: 75,175,295 (GRCm39) probably benign Het
Slc1a6 G T 10: 78,631,816 (GRCm39) G214V probably benign Het
Slc5a6 C A 5: 31,195,444 (GRCm39) A425S probably damaging Het
Smo C A 6: 29,736,123 (GRCm39) N38K possibly damaging Het
Smtn A T 11: 3,470,811 (GRCm39) C909* probably null Het
Sntg2 C T 12: 30,308,040 (GRCm39) R215H probably benign Het
Stk4 T A 2: 163,941,645 (GRCm39) V287E probably benign Het
Tdrd7 A G 4: 46,005,358 (GRCm39) D388G possibly damaging Het
Ttn A T 2: 76,642,652 (GRCm39) F13294L probably damaging Het
Ube2j1 T G 4: 33,040,745 (GRCm39) F84V probably damaging Het
Ugt3a1 A G 15: 9,370,287 (GRCm39) Q477R probably damaging Het
Utf1 T C 7: 139,523,859 (GRCm39) S25P probably benign Het
Vmn1r184 A T 7: 25,966,413 (GRCm39) H53L probably damaging Het
Vmn2r13 A T 5: 109,339,860 (GRCm39) N38K possibly damaging Het
Vps13a C T 19: 16,699,775 (GRCm39) D756N probably damaging Het
Vwa1 G T 4: 155,857,695 (GRCm39) D34E probably damaging Het
Zfhx2 A C 14: 55,301,774 (GRCm39) L2070R probably damaging Het
Zfp984 A G 4: 147,840,362 (GRCm39) V163A probably benign Het
Zp3r A T 1: 130,511,208 (GRCm39) M325K probably benign 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
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
R6332:Adamtsl1 UTSW 4 86,135,248 (GRCm39) missense probably damaging 0.96
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'- GAGCAAGCACATCCTGGTAC -3'
(R):5'- CTTGGTGAAGCCCTCATATTCC -3'

Sequencing Primer
(F):5'- TGGTACAGCTCTGGGCC -3'
(R):5'- AGTCATACAGCTCGTCCAGGTC -3'
Posted On 2016-10-24