Incidental Mutation 'R5250:Adamtsl1'
ID 398920
Institutional Source Beutler Lab
Gene Symbol Adamtsl1
Ensembl Gene ENSMUSG00000066113
Gene Name ADAMTS-like 1
Synonyms punctin-1, 5930437A14Rik, 6720426B09Rik
MMRRC Submission 042821-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.238) question?
Stock # R5250 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 85432409-86346622 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 86135182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 236 (K236*)
Ref Sequence ENSEMBL: ENSMUSP00000119278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048885] [ENSMUST00000107178] [ENSMUST00000141889]
AlphaFold Q8BLI0
Predicted Effect probably null
Transcript: ENSMUST00000048885
AA Change: K236*
SMART Domains Protein: ENSMUSP00000043073
Gene: ENSMUSG00000066113
AA Change: K236*

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 null
Transcript: ENSMUST00000107178
AA Change: K236*
SMART Domains Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: K236*

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 null
Transcript: ENSMUST00000136320
AA Change: K64*
SMART Domains Protein: ENSMUSP00000123343
Gene: ENSMUSG00000066113
AA Change: K64*

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 probably null
Transcript: ENSMUST00000141889
AA Change: K236*
SMART Domains Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: K236*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (60/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 A G 8: 84,460,069 (GRCm39) V109A probably benign Het
Adora2a T C 10: 75,161,882 (GRCm39) I7T probably damaging Het
Ankrd6 A G 4: 32,860,335 (GRCm39) V36A probably damaging Het
Arhgef2 T C 3: 88,540,955 (GRCm39) probably null Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg2b G A 12: 105,602,024 (GRCm39) R1651W probably damaging Het
Atp6v0a1 T A 11: 100,933,870 (GRCm39) V553D possibly damaging Het
Bard1 G A 1: 71,113,722 (GRCm39) L420F probably damaging Het
Bcat1 C G 6: 144,993,165 (GRCm39) probably null Het
Bpifb5 A T 2: 154,066,881 (GRCm39) N45Y probably benign Het
Btbd17 G T 11: 114,682,234 (GRCm39) probably benign Het
Ccdc24 T C 4: 117,726,826 (GRCm39) T296A possibly damaging Het
Col11a1 A G 3: 114,010,819 (GRCm39) probably benign Het
Cspg4b A G 13: 113,456,305 (GRCm39) N784D possibly damaging Het
Dhx38 A T 8: 110,283,152 (GRCm39) V555D probably damaging Het
Dixdc1 T G 9: 50,595,035 (GRCm39) E230A possibly damaging Het
Dnah7b T G 1: 46,412,514 (GRCm39) V4041G probably damaging Het
Dnhd1 A T 7: 105,334,968 (GRCm39) I1021L probably damaging Het
Fgl2 A G 5: 21,580,521 (GRCm39) S288G possibly damaging Het
Flt4 T A 11: 49,521,227 (GRCm39) I412N possibly damaging Het
Gabrb1 A G 5: 72,026,922 (GRCm39) I141V possibly damaging Het
Gpc2 A G 5: 138,277,230 (GRCm39) Y66H probably damaging Het
Hoxd3 C T 2: 74,574,650 (GRCm39) Q99* probably null Het
Inpp5d T C 1: 87,637,397 (GRCm39) V781A probably damaging Het
Larp4b T C 13: 9,221,013 (GRCm39) probably benign Het
Lrrfip1 T A 1: 91,043,618 (GRCm39) S674R possibly damaging Het
Megf6 A G 4: 154,340,467 (GRCm39) T561A possibly damaging Het
Mpo A T 11: 87,694,259 (GRCm39) Q83L probably benign Het
Mucl2 T C 15: 103,927,733 (GRCm39) N75D possibly damaging Het
Myh13 C T 11: 67,218,085 (GRCm39) Q53* probably null Het
Myot T A 18: 44,479,137 (GRCm39) D291E probably damaging Het
Nae1 A G 8: 105,257,023 (GRCm39) probably null Het
Ncoa2 A T 1: 13,294,913 (GRCm39) S2R probably damaging Het
Nktr T A 9: 121,578,858 (GRCm39) probably benign Het
Nrxn1 A G 17: 90,842,869 (GRCm39) probably benign Het
Or10aa3 T G 1: 173,878,838 (GRCm39) F300V probably benign Het
Or14j4 A G 17: 37,920,851 (GRCm39) S264P probably damaging Het
Or5an1b T C 19: 12,299,430 (GRCm39) T254A probably benign Het
P2rx2 T C 5: 110,489,454 (GRCm39) E160G probably damaging Het
Pcdhga11 A T 18: 37,890,990 (GRCm39) D666V probably damaging Het
Pcm1 A T 8: 41,765,242 (GRCm39) E1484D probably damaging Het
Pdia4 C T 6: 47,773,619 (GRCm39) A577T possibly damaging Het
Potefam1 T G 2: 111,058,422 (GRCm39) T124P possibly damaging Het
Ppm1e T C 11: 87,121,744 (GRCm39) I738V probably benign Het
Ppp1r13b G T 12: 111,811,394 (GRCm39) R165S probably benign Het
Rasgrp2 T C 19: 6,454,343 (GRCm39) W129R probably damaging Het
Smurf2 A G 11: 106,747,005 (GRCm39) probably null Het
Spmap1 C A 11: 97,663,553 (GRCm39) W99L possibly damaging Het
Ubr2 G T 17: 47,241,368 (GRCm39) Q1729K probably benign Het
Zfp260 T A 7: 29,804,392 (GRCm39) H97Q probably damaging Het
Zfp429 G T 13: 67,538,638 (GRCm39) R269S probably benign Het
Zfp568 T C 7: 29,716,655 (GRCm39) V185A 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
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'- ACCATGGATGCTTAGATAGTGAG -3'
(R):5'- TTTTCTGGGTAAAGCATACATACAC -3'

Sequencing Primer
(F):5'- GCTCCTTTCTTAAGTAGCTCA -3'
(R):5'- TGGGTAAAGCATACATACACATATTG -3'
Posted On 2016-07-06