Incidental Mutation 'IGL03214:Asb5'
ID 413428
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: 0.079) question?
Stock # IGL03214
Quality Score
Status
Chromosome 8
Chromosomal Location 55003366-55040877 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55038098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 207 (V207A)
Ref Sequence ENSEMBL: ENSMUSP00000033918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033918]
AlphaFold Q9D1A4
Predicted Effect probably benign
Transcript: ENSMUST00000033918
AA Change: V207A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033918
Gene: ENSMUSG00000031519
AA Change: V207A

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T C 11: 7,117,054 (GRCm39) probably benign Het
Atxn3 G T 12: 101,912,181 (GRCm39) probably benign Het
Brwd1 T C 16: 95,839,100 (GRCm39) D857G probably benign Het
Cacna1i A G 15: 80,239,917 (GRCm39) N322S probably benign Het
Ccn6 T C 10: 39,029,163 (GRCm39) N255S probably benign Het
Dcun1d1 A T 3: 35,973,220 (GRCm39) W92R probably damaging Het
Dnah7a A C 1: 53,561,368 (GRCm39) probably null Het
Enpep T C 3: 129,086,896 (GRCm39) D581G probably benign Het
Fam135a G A 1: 24,092,357 (GRCm39) L201F probably damaging Het
Gm14496 T G 2: 181,642,329 (GRCm39) L667V probably damaging Het
Grk4 T A 5: 34,909,553 (GRCm39) M539K probably benign Het
Itpr2 A G 6: 146,081,742 (GRCm39) V2261A probably benign Het
Krtap5-2 A G 7: 141,728,751 (GRCm39) S310P unknown Het
Mme A T 3: 63,237,111 (GRCm39) Y232F possibly damaging Het
Mtmr4 T C 11: 87,488,519 (GRCm39) Y58H probably damaging Het
Myh13 T C 11: 67,244,411 (GRCm39) S983P possibly damaging Het
Nbas A G 12: 13,381,111 (GRCm39) probably benign Het
Neb C T 2: 52,049,560 (GRCm39) G6428R probably damaging Het
Neb T A 2: 52,087,856 (GRCm39) T5448S possibly damaging Het
Or2ag17 T A 7: 106,389,552 (GRCm39) I219L probably benign Het
Or2t1 A T 14: 14,328,284 (GRCm38) M58L probably damaging Het
Or52ab7 G T 7: 102,977,873 (GRCm39) S60I possibly damaging Het
Or5l13 T A 2: 87,780,415 (GRCm39) Q54L probably benign Het
Or5p52 T C 7: 107,502,173 (GRCm39) M83T probably benign Het
Otx2 A G 14: 48,898,781 (GRCm39) I75T probably damaging Het
Phex A T X: 155,960,500 (GRCm39) N681K probably damaging Het
Plekha8 C A 6: 54,612,755 (GRCm39) A454E probably damaging Het
Rbfa C A 18: 80,240,506 (GRCm39) K152N probably benign Het
Satb2 C A 1: 56,884,739 (GRCm39) S513I probably damaging Het
Slc4a2 G T 5: 24,639,879 (GRCm39) R520L probably benign Het
Slfn14 T C 11: 83,169,826 (GRCm39) H606R probably benign Het
Smc1b G A 15: 84,982,147 (GRCm39) Q716* probably null Het
Syncrip C T 9: 88,346,696 (GRCm39) probably benign Het
Vmn2r30 T A 7: 7,337,259 (GRCm39) I126F probably benign Het
Vps13c C T 9: 67,804,477 (GRCm39) A762V probably null Het
Wdr64 C A 1: 175,571,201 (GRCm39) probably benign 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
IGL01383:Asb5 APN 8 55,003,544 (GRCm39) missense probably damaging 1.00
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 2016-08-02