Incidental Mutation 'IGL01383:Asb5'
ID 78954
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 # IGL01383
Quality Score
Status
Chromosome 8
Chromosomal Location 55003366-55040877 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55003544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 22 (L22H)
Ref Sequence ENSEMBL: ENSMUSP00000033918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033918]
AlphaFold Q9D1A4
Predicted Effect probably damaging
Transcript: ENSMUST00000033918
AA Change: L22H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033918
Gene: ENSMUSG00000031519
AA Change: L22H

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: 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555G01Rik C A 14: 5,051,570 (GRCm38) probably null Het
Abca9 A C 11: 110,004,119 (GRCm39) probably benign Het
Aox1 T A 1: 58,333,464 (GRCm39) M227K probably benign Het
Atrx T C X: 104,845,681 (GRCm39) D2309G probably damaging Het
Cand1 T A 10: 119,044,072 (GRCm39) T1074S probably damaging Het
Cep97 T C 16: 55,731,970 (GRCm39) E534G probably damaging Het
Cftr C A 6: 18,226,040 (GRCm39) N329K probably benign Het
Clec7a T C 6: 129,449,603 (GRCm39) T16A probably damaging Het
Col1a1 G A 11: 94,836,351 (GRCm39) R674H probably damaging Het
Csf2rb2 T C 15: 78,181,243 (GRCm39) S50G possibly damaging Het
Eepd1 A G 9: 25,393,778 (GRCm39) D14G probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Grin1 C A 2: 25,186,979 (GRCm39) R694L possibly damaging Het
Gtf3c1 A G 7: 125,298,672 (GRCm39) I151T probably damaging Het
Havcr2 T C 11: 46,360,375 (GRCm39) S152P probably damaging Het
Hvcn1 T C 5: 122,375,766 (GRCm39) V15A probably damaging Het
Iqca1l A T 5: 24,753,292 (GRCm39) N453K probably benign Het
Map3k10 C T 7: 27,357,424 (GRCm39) V785M probably benign Het
Mis18bp1 T C 12: 65,195,763 (GRCm39) N667S probably benign Het
Mup3 A C 4: 62,004,196 (GRCm39) Y106D probably damaging Het
Mypn G T 10: 62,971,576 (GRCm39) N821K probably damaging Het
Odad1 T C 7: 45,589,124 (GRCm39) S179P probably damaging Het
Or2y1c T A 11: 49,361,880 (GRCm39) W301R probably benign Het
Or52b4 A G 7: 102,184,140 (GRCm39) Y62C probably benign Het
Or5ac25 A T 16: 59,182,316 (GRCm39) N88K probably benign Het
Or5i1 A G 2: 87,613,217 (GRCm39) D111G possibly damaging Het
Pcdhb10 A T 18: 37,546,328 (GRCm39) H468L probably benign Het
Pramel27 T G 4: 143,573,102 (GRCm39) probably benign Het
Prp2 C A 6: 132,576,841 (GRCm39) P43T unknown Het
Psg26 A G 7: 18,214,179 (GRCm39) V161A possibly damaging Het
Rab17 T G 1: 90,887,815 (GRCm39) D115A probably damaging Het
Rrp1b T C 17: 32,277,552 (GRCm39) F611L probably damaging Het
Skor1 T A 9: 63,053,838 (GRCm39) T44S probably benign Het
Spaca5 T C X: 20,934,725 (GRCm39) probably benign Het
Tatdn3 G A 1: 190,787,578 (GRCm39) probably benign Het
Tbk1 T C 10: 121,412,184 (GRCm39) D118G probably damaging Het
Tnfsf13b T C 8: 10,081,528 (GRCm39) F230S probably damaging Het
Tnrc6c T C 11: 117,605,083 (GRCm39) S73P probably benign Het
Vmn2r109 A G 17: 20,761,383 (GRCm39) V658A possibly damaging Het
Vmn2r116 C T 17: 23,620,575 (GRCm39) L770F probably damaging Het
Wwp2 T A 8: 108,259,923 (GRCm39) probably null Het
Other mutations in Asb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Asb5 APN 8 55,036,695 (GRCm39) critical splice donor site probably null
IGL01313:Asb5 APN 8 55,038,798 (GRCm39) splice site probably benign
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 2013-11-05