Incidental Mutation 'IGL02358:Adamtsl1'
ID 290393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamtsl1
Ensembl Gene ENSMUSG00000066113
Gene Name ADAMTS-like 1
Synonyms punctin-1, 5930437A14Rik, 6720426B09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.238) question?
Stock # IGL02358
Quality Score
Status
Chromosome 4
Chromosomal Location 85432409-86346622 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 86075110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048885] [ENSMUST00000107178] [ENSMUST00000120678] [ENSMUST00000141889]
AlphaFold Q8BLI0
Predicted Effect probably null
Transcript: ENSMUST00000048885
SMART Domains Protein: ENSMUSP00000043073
Gene: ENSMUSG00000066113

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
SMART Domains Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113

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: ENSMUST00000120678
SMART Domains Protein: ENSMUSP00000113330
Gene: ENSMUSG00000066113

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
TSP1 36 82 8.95e-7 SMART
Blast:TSP1 108 157 5e-9 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000141889
SMART Domains Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113

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
Coding Region Coverage
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,474,418 (GRCm39) T448A possibly damaging Het
Adgra3 A G 5: 50,215,900 (GRCm39) V73A probably benign Het
Adgre4 G A 17: 56,150,209 (GRCm39) R600Q probably benign Het
Aggf1 T C 13: 95,489,358 (GRCm39) probably benign Het
Aktip C T 8: 91,853,520 (GRCm39) V96I possibly damaging Het
Atm A G 9: 53,433,476 (GRCm39) I258T probably benign Het
Baz1b C T 5: 135,273,160 (GRCm39) T1428I probably damaging Het
C3ar1 A T 6: 122,826,934 (GRCm39) Y428N probably damaging Het
Cadps A G 14: 12,597,380 (GRCm38) S437P probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Cenpq A G 17: 41,235,223 (GRCm39) L213P probably damaging Het
Cept1 A G 3: 106,446,504 (GRCm39) probably null Het
Cln6 A G 9: 62,754,407 (GRCm39) I150V probably benign Het
Cyb5r3 T C 15: 83,045,136 (GRCm39) T94A probably benign Het
Cyp2c67 A G 19: 39,605,861 (GRCm39) M345T probably damaging Het
Dapk2 T A 9: 66,153,805 (GRCm39) I187N probably damaging Het
Dkk2 A G 3: 131,883,673 (GRCm39) D191G probably benign Het
Dnah8 T A 17: 30,986,785 (GRCm39) F3145I probably damaging Het
Dock1 A C 7: 134,710,548 (GRCm39) D1190A possibly damaging Het
Ehhadh T A 16: 21,581,620 (GRCm39) L457F probably damaging Het
Ercc6l2 T C 13: 64,001,497 (GRCm39) L552P probably damaging Het
Ghrhr T G 6: 55,361,138 (GRCm39) I284S probably damaging Het
Gm10288 A T 3: 146,544,954 (GRCm39) noncoding transcript Het
Gp6 T G 7: 4,397,507 (GRCm39) I19L probably benign Het
Gria4 G A 9: 4,456,206 (GRCm39) S698L possibly damaging Het
Ifng A T 10: 118,278,410 (GRCm39) I53F possibly damaging Het
Kazn A C 4: 141,874,327 (GRCm39) probably null Het
Khk A T 5: 31,085,848 (GRCm39) I136F probably damaging Het
Krtap9-3 T A 11: 99,488,885 (GRCm39) probably benign Het
Lnx1 T A 5: 74,788,027 (GRCm39) N98Y probably damaging Het
Lsp1 T C 7: 142,042,679 (GRCm39) probably null Het
Lta4h A T 10: 93,314,329 (GRCm39) N467I probably benign Het
Mcmbp C A 7: 128,311,505 (GRCm39) probably null Het
Me2 A T 18: 73,931,038 (GRCm39) I85K probably benign Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Nadsyn1 A T 7: 143,353,649 (GRCm39) Y525N probably damaging Het
Nt5e G A 9: 88,209,946 (GRCm39) V70M probably damaging Het
Or52e4 G A 7: 104,706,182 (GRCm39) G243D probably damaging Het
Or8b36 A T 9: 37,937,332 (GRCm39) I77L possibly damaging Het
Or9k7 T G 10: 130,046,603 (GRCm39) Y132S probably damaging Het
Pkd1l3 A G 8: 110,373,129 (GRCm39) probably benign Het
Ppm1d A T 11: 85,236,541 (GRCm39) E440V probably damaging Het
Pramel32 A T 4: 88,546,127 (GRCm39) I405N probably damaging Het
Ripor2 A T 13: 24,915,572 (GRCm39) E1047D probably damaging Het
Rwdd2b G A 16: 87,234,336 (GRCm39) A18V probably benign Het
Serpina5 G T 12: 104,068,384 (GRCm39) K148N probably damaging Het
Setx A G 2: 29,036,976 (GRCm39) K1154E probably benign Het
Spata31 T A 13: 65,069,032 (GRCm39) N393K probably benign Het
Spcs2 T C 7: 99,498,241 (GRCm39) K81R probably damaging Het
Stt3b T A 9: 115,079,975 (GRCm39) M646L possibly damaging Het
Suco T C 1: 161,646,195 (GRCm39) T1169A probably benign Het
Susd1 A T 4: 59,427,985 (GRCm39) Y66* probably null Het
Trim34a T A 7: 103,910,441 (GRCm39) C414* probably null Het
Trim58 G A 11: 58,542,176 (GRCm39) G379S probably damaging Het
Vmn2r50 T A 7: 9,787,002 (GRCm39) Q35L probably benign Het
Zc3hc1 C A 6: 30,376,057 (GRCm39) G168W probably benign Het
Zfp418 T C 7: 7,177,690 (GRCm39) probably benign Het
Zfp57 G A 17: 37,320,919 (GRCm39) V258I probably benign Het
Zng1 A T 19: 24,909,026 (GRCm39) probably null 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
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
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
Posted On 2015-04-16