Incidental Mutation 'R6605:Asb2'
ID 525625
Institutional Source Beutler Lab
Gene Symbol Asb2
Ensembl Gene ENSMUSG00000021200
Gene Name ankyrin repeat and SOCS box-containing 2
Synonyms 1110008E15Rik
MMRRC Submission 044728-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R6605 (G1)
Quality Score 144.008
Status Validated
Chromosome 12
Chromosomal Location 103287401-103322260 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 103311943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 60 (Q60K)
Ref Sequence ENSEMBL: ENSMUSP00000021617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021617]
AlphaFold Q8K0L0
Predicted Effect probably benign
Transcript: ENSMUST00000021617
AA Change: Q60K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: Q60K

DomainStartEndE-ValueType
UIM 26 45 1.02e0 SMART
ANK 104 133 1.81e2 SMART
ANK 137 167 5.45e-2 SMART
ANK 171 200 5.45e-2 SMART
ANK 204 233 2.21e-2 SMART
ANK 237 266 9.13e-4 SMART
ANK 270 299 7.42e-4 SMART
ANK 303 332 1.19e-2 SMART
ANK 336 365 5.67e0 SMART
ANK 368 397 6.02e-4 SMART
ANK 410 439 3.54e-1 SMART
ANK 440 469 6.81e-3 SMART
SOCS_box 592 631 2.51e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160463
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 92% (35/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a conditional cells activated in the immune system exhibit impaired immature dendritic cell migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T A 7: 45,630,481 (GRCm39) I1260F probably damaging Het
Acat2 A G 17: 13,162,774 (GRCm39) V358A probably benign Het
Adgrv1 G A 13: 81,636,081 (GRCm39) A3476V possibly damaging Het
Akap13 A G 7: 75,229,516 (GRCm39) N150D probably damaging Het
Asxl3 A T 18: 22,650,134 (GRCm39) R708* probably null Het
Cd79b C T 11: 106,203,539 (GRCm39) G116D probably damaging Het
Copg2 A G 6: 30,835,757 (GRCm39) F218S probably benign Het
Defa5 A C 8: 21,787,604 (GRCm39) E50D possibly damaging Het
Efcab3 T A 11: 104,890,107 (GRCm39) probably null Het
Eva1c T A 16: 90,663,236 (GRCm39) V91D probably damaging Het
Fosb T C 7: 19,043,283 (GRCm39) Y25C probably damaging Het
Gm5141 G A 13: 62,922,201 (GRCm39) H323Y probably damaging Het
Gpr19 T C 6: 134,847,398 (GRCm39) N58S probably benign Het
Gpr26 G A 7: 131,585,893 (GRCm39) A288T possibly damaging Het
Gucy2g T A 19: 55,229,460 (GRCm39) Q70L probably damaging Het
Ifit2 C T 19: 34,550,897 (GRCm39) R146* probably null Het
Lgr5 A C 10: 115,293,772 (GRCm39) N408K possibly damaging Het
Lrp1 G A 10: 127,396,005 (GRCm39) H2422Y probably damaging Het
Mief1 T A 15: 80,132,692 (GRCm39) Y191* probably null Het
Npr3 C G 15: 11,905,518 (GRCm39) A70P probably damaging Het
Or2y1b A T 11: 49,208,541 (GRCm39) H56L probably damaging Het
Pcnt A G 10: 76,265,032 (GRCm39) probably null Het
Pnlip A T 19: 58,660,174 (GRCm39) D29V probably benign Het
Pnpt1 T A 11: 29,088,567 (GRCm39) F277I possibly damaging Het
Pou2f2 A C 7: 24,793,006 (GRCm39) V441G probably damaging Het
Prdm4 A G 10: 85,740,002 (GRCm39) V459A probably benign Het
Ptprs A T 17: 56,729,195 (GRCm39) V855E probably damaging Het
Rflna A G 5: 125,088,352 (GRCm39) T100A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Spata31h1 A T 10: 82,131,871 (GRCm39) S380T probably benign Het
Syn3 A G 10: 85,893,428 (GRCm39) S472P unknown Het
Taar8a A T 10: 23,952,674 (GRCm39) I93F possibly damaging Het
Taok2 T A 7: 126,477,930 (GRCm39) D207V probably damaging Het
Tpst2 A T 5: 112,424,600 (GRCm39) probably benign Homo
Trdv2-1 A G 14: 54,183,999 (GRCm39) N77S possibly damaging Het
Wdr17 A C 8: 55,134,559 (GRCm39) V18G probably benign Het
Zbtb17 T C 4: 141,192,261 (GRCm39) V402A probably damaging Het
Zfp772 T C 7: 7,208,547 (GRCm39) E99G possibly damaging Het
Zw10 A G 9: 48,980,926 (GRCm39) D442G probably benign Het
Other mutations in Asb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01702:Asb2 APN 12 103,302,164 (GRCm39) missense possibly damaging 0.93
IGL01878:Asb2 APN 12 103,287,922 (GRCm39) missense possibly damaging 0.89
IGL02103:Asb2 APN 12 103,299,755 (GRCm39) nonsense probably null
IGL02936:Asb2 APN 12 103,302,173 (GRCm39) missense probably benign 0.04
R0178:Asb2 UTSW 12 103,291,811 (GRCm39) missense probably damaging 1.00
R0208:Asb2 UTSW 12 103,291,530 (GRCm39) missense possibly damaging 0.77
R0844:Asb2 UTSW 12 103,291,805 (GRCm39) missense probably damaging 1.00
R1309:Asb2 UTSW 12 103,291,667 (GRCm39) missense probably benign
R2931:Asb2 UTSW 12 103,301,146 (GRCm39) missense probably damaging 1.00
R4057:Asb2 UTSW 12 103,291,653 (GRCm39) missense probably benign
R4735:Asb2 UTSW 12 103,291,317 (GRCm39) missense probably benign 0.43
R4754:Asb2 UTSW 12 103,290,096 (GRCm39) missense possibly damaging 0.95
R5916:Asb2 UTSW 12 103,290,135 (GRCm39) missense probably damaging 1.00
R5946:Asb2 UTSW 12 103,287,814 (GRCm39) missense probably benign 0.00
R6349:Asb2 UTSW 12 103,312,118 (GRCm39) start codon destroyed probably null 0.07
R7317:Asb2 UTSW 12 103,299,616 (GRCm39) missense probably damaging 0.99
R8720:Asb2 UTSW 12 103,291,680 (GRCm39) missense probably damaging 1.00
R8828:Asb2 UTSW 12 103,304,457 (GRCm39) missense probably benign 0.00
R8873:Asb2 UTSW 12 103,299,725 (GRCm39) missense probably damaging 0.98
R8878:Asb2 UTSW 12 103,290,138 (GRCm39) missense possibly damaging 0.73
R9304:Asb2 UTSW 12 103,302,225 (GRCm39) missense probably damaging 0.99
R9333:Asb2 UTSW 12 103,311,955 (GRCm39) nonsense probably null
R9352:Asb2 UTSW 12 103,296,698 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATGTGAAAGACTTGGGCCACAG -3'
(R):5'- ATGGCGACTGAGATCTCCAC -3'

Sequencing Primer
(F):5'- GGATCCCATCCCACTGTGAC -3'
(R):5'- ACTGAGATCTCCACTCGGG -3'
Posted On 2018-06-22