Incidental Mutation 'IGL02352:Adamtsl5'
ID 289550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamtsl5
Ensembl Gene ENSMUSG00000043822
Gene Name ADAMTS-like 5
Synonyms 2010109H09Rik, Thsd6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02352
Quality Score
Status
Chromosome 10
Chromosomal Location 80175655-80184246 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 80179562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095446] [ENSMUST00000105352]
AlphaFold D3Z689
Predicted Effect probably null
Transcript: ENSMUST00000095446
SMART Domains Protein: ENSMUSP00000093097
Gene: ENSMUSG00000043822

DomainStartEndE-ValueType
signal peptide 1 43 N/A INTRINSIC
TSP1 49 98 2.51e-10 SMART
Pfam:ADAM_spacer1 203 312 1.1e-27 PFAM
low complexity region 329 344 N/A INTRINSIC
Pfam:NTR 378 481 2.2e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105352
SMART Domains Protein: ENSMUSP00000100989
Gene: ENSMUSG00000043822

DomainStartEndE-ValueType
signal peptide 1 43 N/A INTRINSIC
TSP1 49 98 2.51e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138705
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A C 12: 72,941,829 (GRCm39) probably null Het
Abca5 T A 11: 110,166,156 (GRCm39) N1540I probably benign Het
Aldh2 T C 5: 121,713,960 (GRCm39) E128G probably null Het
Anln A G 9: 22,279,708 (GRCm39) V494A probably benign Het
Ano3 A T 2: 110,715,288 (GRCm39) L50* probably null Het
Atp13a3 A G 16: 30,169,902 (GRCm39) I392T probably damaging Het
C1qtnf5 A G 9: 44,019,631 (GRCm39) E85G possibly damaging Het
Cacna1s A T 1: 136,020,990 (GRCm39) probably benign Het
Ccdc150 G A 1: 54,311,680 (GRCm39) R222H probably benign Het
Cdk5rap3 A T 11: 96,807,003 (GRCm39) I9N probably damaging Het
Cmip A T 8: 118,137,994 (GRCm39) probably benign Het
Cyp21a1 A G 17: 35,023,196 (GRCm39) Y60H probably damaging Het
Cyp2d11 A G 15: 82,278,121 (GRCm39) W10R possibly damaging Het
Dock10 A G 1: 80,483,378 (GRCm39) Y2076H probably damaging Het
Dpcd G T 19: 45,565,493 (GRCm39) A156S probably benign Het
Egflam T C 15: 7,263,706 (GRCm39) N748S probably benign Het
Fam227b A G 2: 125,988,174 (GRCm39) probably benign Het
Fancd2 T A 6: 113,540,073 (GRCm39) I654N probably damaging Het
Hpf1 A G 8: 61,349,836 (GRCm39) I155V probably benign Het
Hrh1 C A 6: 114,457,404 (GRCm39) N228K probably benign Het
Igkv3-2 T C 6: 70,675,474 (GRCm39) L8P probably damaging Het
Iqgap3 T C 3: 88,009,267 (GRCm39) F734L probably benign Het
Kif5a T C 10: 127,079,370 (GRCm39) Y276C probably damaging Het
Lax1 A T 1: 133,608,208 (GRCm39) S178T possibly damaging Het
Marchf6 C T 15: 31,509,905 (GRCm39) C28Y probably damaging Het
Mylk3 T C 8: 86,081,931 (GRCm39) T356A probably benign Het
Obscn T C 11: 58,891,853 (GRCm39) E6893G probably benign Het
Or2l13 T C 16: 19,305,927 (GRCm39) L113P probably damaging Het
Pate7 A T 9: 35,689,180 (GRCm39) M1K probably null Het
Pgap2 G T 7: 101,885,346 (GRCm39) V71F probably damaging Het
Prob1 T G 18: 35,785,893 (GRCm39) E787A possibly damaging Het
Psmd2 C A 16: 20,475,691 (GRCm39) D430E probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Serpinb9e A T 13: 33,441,803 (GRCm39) probably benign Het
Sgsm2 G T 11: 74,782,900 (GRCm39) probably benign Het
Slc38a9 A G 13: 112,826,720 (GRCm39) I153V probably benign Het
Slco1b2 T A 6: 141,631,251 (GRCm39) D628E probably damaging Het
Sult2a5 T C 7: 13,362,727 (GRCm39) S145P probably benign Het
Sv2b T C 7: 74,786,197 (GRCm39) T408A probably benign Het
Usp24 T C 4: 106,261,122 (GRCm39) C1626R probably damaging Het
Wdr43 C T 17: 71,939,043 (GRCm39) T217M possibly damaging Het
Wdr95 G A 5: 149,504,084 (GRCm39) V155M probably damaging Het
Wsb1 G A 11: 79,141,838 (GRCm39) L60F probably damaging Het
Wwp2 C T 8: 108,267,278 (GRCm39) R297* probably null Het
Xkr6 T C 14: 64,057,156 (GRCm39) Y356H unknown Het
Other mutations in Adamtsl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Adamtsl5 APN 10 80,180,750 (GRCm39) missense probably damaging 1.00
IGL01788:Adamtsl5 APN 10 80,180,757 (GRCm39) missense probably benign 0.02
IGL02359:Adamtsl5 APN 10 80,179,562 (GRCm39) critical splice acceptor site probably null
IGL02380:Adamtsl5 APN 10 80,177,612 (GRCm39) missense probably benign
IGL02898:Adamtsl5 APN 10 80,178,065 (GRCm39) unclassified probably benign
R0564:Adamtsl5 UTSW 10 80,180,681 (GRCm39) missense probably damaging 0.99
R1399:Adamtsl5 UTSW 10 80,177,042 (GRCm39) missense probably damaging 1.00
R1652:Adamtsl5 UTSW 10 80,178,011 (GRCm39) missense probably benign
R3433:Adamtsl5 UTSW 10 80,178,725 (GRCm39) missense probably benign
R4157:Adamtsl5 UTSW 10 80,181,156 (GRCm39) missense probably null 1.00
R4395:Adamtsl5 UTSW 10 80,180,736 (GRCm39) missense probably damaging 1.00
R5238:Adamtsl5 UTSW 10 80,181,192 (GRCm39) missense probably damaging 1.00
R5309:Adamtsl5 UTSW 10 80,180,982 (GRCm39) intron probably benign
R5608:Adamtsl5 UTSW 10 80,178,781 (GRCm39) missense probably benign 0.06
R6468:Adamtsl5 UTSW 10 80,177,747 (GRCm39) missense possibly damaging 0.65
R6885:Adamtsl5 UTSW 10 80,179,465 (GRCm39) missense probably benign 0.01
R7426:Adamtsl5 UTSW 10 80,180,693 (GRCm39) missense probably benign 0.10
R7843:Adamtsl5 UTSW 10 80,178,757 (GRCm39) missense probably damaging 1.00
R7900:Adamtsl5 UTSW 10 80,177,735 (GRCm39) missense probably damaging 0.97
R7988:Adamtsl5 UTSW 10 80,181,372 (GRCm39) missense probably benign
R8431:Adamtsl5 UTSW 10 80,181,228 (GRCm39) missense probably benign 0.01
R9653:Adamtsl5 UTSW 10 80,180,763 (GRCm39) missense probably damaging 1.00
R9762:Adamtsl5 UTSW 10 80,180,896 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16