Incidental Mutation 'IGL02352:Adamtsl5'
ID289550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamtsl5
Ensembl Gene ENSMUSG00000043822
Gene NameADAMTS-like 5
SynonymsThsd6, 2010109H09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02352
Quality Score
Status
Chromosome10
Chromosomal Location80339110-80348412 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to A at 80343728 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095446] [ENSMUST00000105352]
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: 72,895,055 probably null Het
Abca5 T A 11: 110,275,330 N1540I probably benign Het
Aldh2 T C 5: 121,575,897 E128G probably null Het
Anln A G 9: 22,368,412 V494A probably benign Het
Ano3 A T 2: 110,884,943 L50* probably null Het
Atp13a3 A G 16: 30,351,084 I392T probably damaging Het
C1qtnf5 A G 9: 44,108,334 E85G possibly damaging Het
Cacna1s A T 1: 136,093,252 probably benign Het
Ccdc150 G A 1: 54,272,521 R222H probably benign Het
Cdk5rap3 A T 11: 96,916,177 I9N probably damaging Het
Cmip A T 8: 117,411,255 probably benign Het
Cyp21a1 A G 17: 34,804,222 Y60H probably damaging Het
Cyp2d11 A G 15: 82,393,920 W10R possibly damaging Het
Dock10 A G 1: 80,505,661 Y2076H probably damaging Het
Egflam T C 15: 7,234,225 N748S probably benign Het
Fam227b A G 2: 126,146,254 probably benign Het
Fancd2 T A 6: 113,563,112 I654N probably damaging Het
Gm17018 G T 19: 45,577,054 A156S probably benign Het
Gm17727 A T 9: 35,777,884 M1K probably null Het
Hpf1 A G 8: 60,896,802 I155V probably benign Het
Hrh1 C A 6: 114,480,443 N228K probably benign Het
Igkv3-2 T C 6: 70,698,490 L8P probably damaging Het
Iqgap3 T C 3: 88,101,960 F734L probably benign Het
Kif5a T C 10: 127,243,501 Y276C probably damaging Het
Lax1 A T 1: 133,680,470 S178T possibly damaging Het
March6 C T 15: 31,509,759 C28Y probably damaging Het
Mylk3 T C 8: 85,355,302 T356A probably benign Het
Obscn T C 11: 59,001,027 E6893G probably benign Het
Olfr166 T C 16: 19,487,177 L113P probably damaging Het
Pgap2 G T 7: 102,236,139 V71F probably damaging Het
Prob1 T G 18: 35,652,840 E787A possibly damaging Het
Psmd2 C A 16: 20,656,941 D430E probably benign Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpinb9e A T 13: 33,257,820 probably benign Het
Sgsm2 G T 11: 74,892,074 probably benign Het
Slc38a9 A G 13: 112,690,186 I153V probably benign Het
Slco1b2 T A 6: 141,685,525 D628E probably damaging Het
Sult2a5 T C 7: 13,628,802 S145P probably benign Het
Sv2b T C 7: 75,136,449 T408A probably benign Het
Usp24 T C 4: 106,403,925 C1626R probably damaging Het
Wdr43 C T 17: 71,632,048 T217M possibly damaging Het
Wdr95 G A 5: 149,580,619 V155M probably damaging Het
Wsb1 G A 11: 79,251,012 L60F probably damaging Het
Wwp2 C T 8: 107,540,646 R297* probably null Het
Xkr6 T C 14: 63,819,707 Y356H unknown Het
Other mutations in Adamtsl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Adamtsl5 APN 10 80344916 missense probably damaging 1.00
IGL01788:Adamtsl5 APN 10 80344923 missense probably benign 0.02
IGL02359:Adamtsl5 APN 10 80343728 critical splice acceptor site probably null
IGL02380:Adamtsl5 APN 10 80341778 missense probably benign
IGL02898:Adamtsl5 APN 10 80342231 unclassified probably benign
R0564:Adamtsl5 UTSW 10 80344847 missense probably damaging 0.99
R1399:Adamtsl5 UTSW 10 80341208 missense probably damaging 1.00
R1652:Adamtsl5 UTSW 10 80342177 missense probably benign
R3433:Adamtsl5 UTSW 10 80342891 missense probably benign
R4157:Adamtsl5 UTSW 10 80345322 missense probably null 1.00
R4395:Adamtsl5 UTSW 10 80344902 missense probably damaging 1.00
R5238:Adamtsl5 UTSW 10 80345358 missense probably damaging 1.00
R5309:Adamtsl5 UTSW 10 80345148 intron probably benign
R5608:Adamtsl5 UTSW 10 80342947 missense probably benign 0.06
R6468:Adamtsl5 UTSW 10 80341913 missense possibly damaging 0.65
R6885:Adamtsl5 UTSW 10 80343631 missense probably benign 0.01
R7426:Adamtsl5 UTSW 10 80344859 missense probably benign 0.10
R7843:Adamtsl5 UTSW 10 80342923 missense probably damaging 1.00
R7900:Adamtsl5 UTSW 10 80341901 missense probably damaging 0.97
R7926:Adamtsl5 UTSW 10 80342923 missense probably damaging 1.00
R7983:Adamtsl5 UTSW 10 80341901 missense probably damaging 0.97
Posted On2015-04-16