Incidental Mutation 'R2221:Adamtsl1'
ID 241478
Institutional Source Beutler Lab
Gene Symbol Adamtsl1
Ensembl Gene ENSMUSG00000066113
Gene Name ADAMTS-like 1
Synonyms punctin-1, 5930437A14Rik, 6720426B09Rik
MMRRC Submission 040223-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.238) question?
Stock # R2221 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 85432409-86346622 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 86306762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 1392 (D1392A)
Ref Sequence ENSEMBL: ENSMUSP00000119278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107178] [ENSMUST00000141889]
AlphaFold Q8BLI0
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107177
Predicted Effect probably benign
Transcript: ENSMUST00000107178
AA Change: D1400A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: D1400A

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 probably benign
Transcript: ENSMUST00000141889
AA Change: D1392A

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: D1392A

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 0.0739 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (58/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T C 17: 14,103,999 (GRCm39) probably benign Het
Aph1b A T 9: 66,691,921 (GRCm39) M121K probably damaging Het
Aspg G A 12: 112,080,868 (GRCm39) A120T probably damaging Het
Bicd1 A G 6: 149,418,503 (GRCm39) T725A probably damaging Het
Cd1d2 A T 3: 86,895,847 (GRCm39) I292F probably damaging Het
Cdcp3 A T 7: 130,849,186 (GRCm39) probably null Het
Cdk13 A G 13: 17,894,120 (GRCm39) V495A probably damaging Het
Cfd A T 10: 79,728,039 (GRCm39) probably null Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cradd A C 10: 95,011,735 (GRCm39) V135G probably benign Het
Cry1 A G 10: 84,979,617 (GRCm39) C460R probably damaging Het
Ctu2 A G 8: 123,207,649 (GRCm39) E375G probably damaging Het
Dym T G 18: 75,363,236 (GRCm39) I580S probably damaging Het
Eif3e A G 15: 43,114,943 (GRCm39) L411P possibly damaging Het
Emsy T C 7: 98,239,982 (GRCm39) E1091G possibly damaging Het
Enkur A G 2: 21,194,130 (GRCm39) probably benign Het
Fam184a G A 10: 53,531,175 (GRCm39) T733M probably damaging Het
Frem2 G A 3: 53,424,278 (GRCm39) A3053V probably benign Het
Gbgt1 T C 2: 28,388,435 (GRCm39) L40P probably damaging Het
Gm5174 T A 10: 86,492,372 (GRCm39) noncoding transcript Het
Gys2 G T 6: 142,402,148 (GRCm39) D230E probably damaging Het
Herc2 T A 7: 55,818,766 (GRCm39) probably null Het
Hps3 A T 3: 20,056,527 (GRCm39) S815R probably benign Het
Igf1r C A 7: 67,851,710 (GRCm39) S983R probably damaging Het
Itsn1 T A 16: 91,650,656 (GRCm39) probably benign Het
Kcnc2 A G 10: 112,292,431 (GRCm39) N91D probably damaging Het
Kif28 C A 1: 179,560,676 (GRCm39) A210S possibly damaging Het
Klri2 T A 6: 129,717,272 (GRCm39) Q37L probably damaging Het
Lrrc38 T A 4: 143,096,419 (GRCm39) C243* probably null Het
Map3k5 T C 10: 19,943,666 (GRCm39) V590A possibly damaging Het
Mdn1 C A 4: 32,763,306 (GRCm39) F5135L probably benign Het
Megf11 G A 9: 64,567,713 (GRCm39) G401S possibly damaging Het
Mst1r T C 9: 107,785,547 (GRCm39) F402L probably damaging Het
Ntrk3 T C 7: 77,848,600 (GRCm39) I759V probably damaging Het
Nup188 T C 2: 30,226,936 (GRCm39) probably benign Het
Or4a71 C T 2: 89,358,281 (GRCm39) V158I probably benign Het
Or8b12i T C 9: 20,082,388 (GRCm39) S160G possibly damaging Het
Prdm2 T C 4: 142,861,469 (GRCm39) N607S possibly damaging Het
Prl2a1 T A 13: 27,990,369 (GRCm39) probably null Het
Serpina9 T A 12: 103,964,523 (GRCm39) I305F probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc19a1 C T 10: 76,878,320 (GRCm39) T285I probably benign Het
Snap91 T C 9: 86,674,580 (GRCm39) T544A possibly damaging Het
Srgap3 A G 6: 112,923,454 (GRCm39) S2P probably damaging Het
Tcof1 A G 18: 60,970,973 (GRCm39) V210A possibly damaging Het
Tex261 A G 6: 83,748,497 (GRCm39) I136T probably benign Het
Trpa1 A T 1: 14,973,480 (GRCm39) F279L probably null Het
Ttc39b T C 4: 83,150,999 (GRCm39) N532S probably benign Het
Ttn T C 2: 76,572,438 (GRCm39) T26152A probably damaging Het
Ube2w A G 1: 16,668,183 (GRCm39) S97P possibly damaging Het
Vmn1r25 A C 6: 57,956,223 (GRCm39) L22R probably damaging Het
Vmn1r64 T C 7: 5,887,448 (GRCm39) I32V probably benign Het
Vmn2r112 T G 17: 22,820,214 (GRCm39) M29R possibly damaging Het
Vmn2r71 T A 7: 85,273,301 (GRCm39) M705K probably benign Het
Vps13b G A 15: 35,884,743 (GRCm39) V3139I probably benign Het
Zfp628 T C 7: 4,923,830 (GRCm39) V684A 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
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
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'- AATGCCAGGGATACGCACAC -3'
(R):5'- AGTCAGCCAAGTTTCCACTG -3'

Sequencing Primer
(F):5'- CACAGGGGTGTGTGCCTATC -3'
(R):5'- TCAGCCAAGTTTCCACTGGTGAG -3'
Posted On 2014-10-15