Incidental Mutation 'IGL01313:Asb5'
ID 73768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asb5
Ensembl Gene ENSMUSG00000031519
Gene Name ankyrin repeat and SOCs box-containing 5
Synonyms 1110018D09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL01313
Quality Score
Status
Chromosome 8
Chromosomal Location 55003366-55040877 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 55038798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033918]
AlphaFold Q9D1A4
Predicted Effect probably benign
Transcript: ENSMUST00000033918
SMART Domains Protein: ENSMUSP00000033918
Gene: ENSMUSG00000031519

DomainStartEndE-ValueType
ANK 69 98 6.26e-2 SMART
ANK 102 131 2.45e-4 SMART
ANK 135 164 7.19e-2 SMART
ANK 167 196 5.58e1 SMART
ANK 200 229 9.35e-1 SMART
ANK 232 261 5.32e-5 SMART
SOCS_box 290 329 5.37e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209937
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,621,969 (GRCm39) probably null Het
Abca7 T A 10: 79,838,957 (GRCm39) probably benign Het
Acvr1c T G 2: 58,205,986 (GRCm39) Q41H probably benign Het
Apob A T 12: 8,050,898 (GRCm39) N1041Y probably damaging Het
Asxl3 A T 18: 22,650,516 (GRCm39) E835V probably benign Het
Ccdc73 A T 2: 104,737,972 (GRCm39) M23L probably benign Het
Cep170b G A 12: 112,702,086 (GRCm39) R293H probably damaging Het
Chd8 C A 14: 52,448,032 (GRCm39) L316F probably damaging Het
Cldn13 T C 5: 134,944,114 (GRCm39) S24G possibly damaging Het
Cnot10 A T 9: 114,460,923 (GRCm39) N82K probably benign Het
Colec10 G A 15: 54,323,157 (GRCm39) V127M probably damaging Het
Cyp2d40 T C 15: 82,645,478 (GRCm39) S130G unknown Het
Ddx60 T A 8: 62,435,560 (GRCm39) H904Q probably damaging Het
Dnaaf11 A T 15: 66,252,362 (GRCm39) S435T probably benign Het
Dnajc2 T C 5: 21,979,974 (GRCm39) N177S possibly damaging Het
F5 G T 1: 164,021,181 (GRCm39) V1219L probably benign Het
Fam47c G T X: 77,781,454 (GRCm39) R12L probably damaging Het
Fat4 T C 3: 39,061,350 (GRCm39) I4311T possibly damaging Het
Fbf1 A G 11: 116,041,907 (GRCm39) V545A probably benign Het
Fhod3 G A 18: 25,153,777 (GRCm39) E420K probably damaging Het
Ikzf2 T C 1: 69,578,589 (GRCm39) K162E probably damaging Het
Insl6 C A 19: 29,298,953 (GRCm39) S153I possibly damaging Het
Kcnh8 A G 17: 53,141,708 (GRCm39) Y317C probably damaging Het
Lzts1 C A 8: 69,591,759 (GRCm39) V130L probably benign Het
Mill1 T C 7: 17,998,558 (GRCm39) I256T possibly damaging Het
Mycbpap A C 11: 94,400,145 (GRCm39) probably null Het
Or6c65 A G 10: 129,603,464 (GRCm39) Y33C probably damaging Het
Pdia6 T A 12: 17,320,542 (GRCm39) probably benign Het
Pik3c2b C T 1: 132,999,369 (GRCm39) Q406* probably null Het
Pkhd1 C A 1: 20,271,248 (GRCm39) G3102C probably damaging Het
Polr3b T A 10: 84,561,607 (GRCm39) I1122N probably damaging Het
Ryr2 T A 13: 11,653,371 (GRCm39) probably null Het
Samhd1 A G 2: 156,958,321 (GRCm39) I300T probably damaging Het
Skint5 T A 4: 113,662,361 (GRCm39) I609F unknown Het
Slc27a3 G T 3: 90,293,861 (GRCm39) T541K probably damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Sv2c C T 13: 96,224,797 (GRCm39) V171M probably damaging Het
Tenm2 A G 11: 35,915,075 (GRCm39) V2154A probably damaging Het
Thoc1 A T 18: 9,987,158 (GRCm39) I433F probably benign Het
Thoc2 A T X: 40,916,223 (GRCm39) V865D probably benign Het
Trdn C A 10: 33,076,216 (GRCm39) P282Q probably damaging Het
Twsg1 C A 17: 66,255,699 (GRCm39) C25F probably damaging Het
Usp34 T A 11: 23,423,206 (GRCm39) I3155N probably damaging Het
Vmn2r106 T A 17: 20,498,651 (GRCm39) Q420L probably damaging Het
Vmn2r109 C T 17: 20,770,419 (GRCm39) R523K probably damaging Het
Other mutations in Asb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Asb5 APN 8 55,036,695 (GRCm39) critical splice donor site probably null
IGL01383:Asb5 APN 8 55,003,544 (GRCm39) missense probably damaging 1.00
IGL03214:Asb5 APN 8 55,038,098 (GRCm39) missense probably benign 0.30
IGL03403:Asb5 APN 8 55,036,582 (GRCm39) splice site probably benign
R2002:Asb5 UTSW 8 55,036,655 (GRCm39) missense probably damaging 1.00
R4768:Asb5 UTSW 8 55,038,031 (GRCm39) missense probably benign 0.00
R4786:Asb5 UTSW 8 55,038,874 (GRCm39) missense probably benign 0.07
R5602:Asb5 UTSW 8 55,038,974 (GRCm39) missense probably benign 0.06
R6475:Asb5 UTSW 8 55,003,610 (GRCm39) missense probably damaging 0.99
R6836:Asb5 UTSW 8 55,038,106 (GRCm39) missense probably benign
R7716:Asb5 UTSW 8 55,038,021 (GRCm39) missense probably benign 0.06
R7775:Asb5 UTSW 8 55,037,827 (GRCm39) missense
R7778:Asb5 UTSW 8 55,037,827 (GRCm39) missense
R7824:Asb5 UTSW 8 55,037,827 (GRCm39) missense
R8156:Asb5 UTSW 8 55,003,541 (GRCm39) missense probably damaging 1.00
R9032:Asb5 UTSW 8 55,038,929 (GRCm39) missense probably benign 0.00
Posted On 2013-10-07