Incidental Mutation 'R8156:Asb5'
ID 633316
Institutional Source Beutler Lab
Gene Symbol Asb5
Ensembl Gene ENSMUSG00000031519
Gene Name ankyrin repeat and SOCs box-containing 5
Synonyms 1110018D09Rik
MMRRC Submission 067582-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R8156 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 55003366-55040877 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55003541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 21 (I21K)
Ref Sequence ENSEMBL: ENSMUSP00000033918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033918]
AlphaFold Q9D1A4
Predicted Effect probably damaging
Transcript: ENSMUST00000033918
AA Change: I21K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033918
Gene: ENSMUSG00000031519
AA Change: I21K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency 95% (40/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alyref T C 11: 120,489,074 (GRCm39) R31G probably benign Het
Arfgef2 GTGTGCAGAAACT GT 2: 166,676,383 (GRCm39) 92 probably null Het
Arhgap31 G T 16: 38,445,991 (GRCm39) A118E probably damaging Het
Asxl2 A G 12: 3,546,760 (GRCm39) I515V probably benign Het
Bend7 C T 2: 4,757,665 (GRCm39) P236S probably benign Het
C4bp T C 1: 130,566,824 (GRCm39) T351A probably benign Het
Cd1d2 T A 3: 86,894,569 (GRCm39) probably null Het
Chd1 T A 17: 15,981,666 (GRCm39) D1368E probably benign Het
Chrnb3 A G 8: 27,883,682 (GRCm39) I140V probably benign Het
Cip2a A G 16: 48,817,825 (GRCm39) D65G probably damaging Het
Col6a2 T C 10: 76,432,625 (GRCm39) T843A possibly damaging Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Dop1a A G 9: 86,376,510 (GRCm39) D248G probably damaging Het
Dtna T A 18: 23,723,388 (GRCm39) C197* probably null Het
Flg2 T C 3: 93,127,390 (GRCm39) S2101P unknown Het
Foxg1 A G 12: 49,431,429 (GRCm39) H54R unknown Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gpr35 A G 1: 92,910,437 (GRCm39) T50A probably damaging Het
Gsta3 A T 1: 21,330,322 (GRCm39) Y108F probably benign Het
Hdac4 G T 1: 91,886,138 (GRCm39) A811E probably damaging Het
Hephl1 A T 9: 14,972,210 (GRCm39) V910E possibly damaging Het
Kcnb2 A T 1: 15,780,280 (GRCm39) Y384F probably damaging Het
Kmt2a T C 9: 44,733,686 (GRCm39) I2210M unknown Het
Lamb2 C T 9: 108,357,845 (GRCm39) R123W probably damaging Het
Lrriq1 A G 10: 102,992,196 (GRCm39) probably null Het
Lsm4 G A 8: 71,131,018 (GRCm39) G112S probably damaging Het
Myt1 T C 2: 181,464,554 (GRCm39) probably null Het
Ndor1 T C 2: 25,138,746 (GRCm39) R396G probably benign Het
Or10ag56 A C 2: 87,139,318 (GRCm39) I82L probably damaging Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Prdm2 A G 4: 142,861,338 (GRCm39) S651P probably benign Het
Prkaa2 T C 4: 104,909,172 (GRCm39) M91V probably benign Het
Pskh1 G A 8: 106,640,226 (GRCm39) R302H probably benign Het
Rab11fip4 A G 11: 79,577,415 (GRCm39) T390A probably benign Het
Snx10 T C 6: 51,538,999 (GRCm39) probably benign Het
Taar5 T C 10: 23,847,393 (GRCm39) C264R probably damaging Het
Tcf20 A G 15: 82,737,138 (GRCm39) C1438R probably benign Het
Tfap2d A G 1: 19,173,486 (GRCm39) T3A probably benign Het
Toporsl A G 4: 52,609,975 (GRCm39) probably benign Het
Trim71 A G 9: 114,342,192 (GRCm39) S697P probably benign Het
Ufl1 T C 4: 25,269,057 (GRCm39) D258G probably damaging Het
Vmn1r28 T C 6: 58,242,183 (GRCm39) Y9H probably damaging Het
Zfp995 T A 17: 22,099,115 (GRCm39) H373L probably damaging 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
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
R9032:Asb5 UTSW 8 55,038,929 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTGGTGAAGAACTTTTATGGACAG -3'
(R):5'- TACTCAACTTGAAACAGGAGCC -3'

Sequencing Primer
(F):5'- GAGCCTTAGACATCATTACCAGTTG -3'
(R):5'- GAGCCTGCTATCATAAACATACCTTG -3'
Posted On 2020-06-30