Incidental Mutation 'R0208:Asb2'
ID 33489
Institutional Source Beutler Lab
Gene Symbol Asb2
Ensembl Gene ENSMUSG00000021200
Gene Name ankyrin repeat and SOCS box-containing 2
Synonyms 1110008E15Rik
MMRRC Submission 038461-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R0208 (G1)
Quality Score 176
Status Validated
Chromosome 12
Chromosomal Location 103287401-103322260 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103291530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 466 (N466Y)
Ref Sequence ENSEMBL: ENSMUSP00000021617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021617] [ENSMUST00000149431]
AlphaFold Q8K0L0
Predicted Effect possibly damaging
Transcript: ENSMUST00000021617
AA Change: N466Y

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: N466Y

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: ENSMUST00000127447
Predicted Effect possibly damaging
Transcript: ENSMUST00000149431
AA Change: N418Y

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200
AA Change: N418Y

DomainStartEndE-ValueType
low complexity region 15 34 N/A INTRINSIC
ANK 56 85 1.81e2 SMART
ANK 89 119 5.45e-2 SMART
ANK 123 152 5.45e-2 SMART
ANK 156 185 2.21e-2 SMART
ANK 189 218 9.13e-4 SMART
ANK 222 251 7.42e-4 SMART
ANK 255 284 1.19e-2 SMART
ANK 288 317 5.67e0 SMART
ANK 320 349 6.02e-4 SMART
ANK 362 391 3.54e-1 SMART
ANK 392 421 6.81e-3 SMART
SOCS_box 544 583 2.51e-11 SMART
Meta Mutation Damage Score 0.2208 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.7%
Validation Efficiency 96% (67/70)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 C T 3: 59,840,110 (GRCm39) R61C probably damaging Het
Ackr4 A G 9: 103,976,860 (GRCm39) V29A probably benign Het
Adgrb1 T C 15: 74,458,656 (GRCm39) F313L probably benign Het
Arfgef2 C T 2: 166,709,342 (GRCm39) R1140W probably damaging Het
Arhgef15 A T 11: 68,837,199 (GRCm39) N797K probably benign Het
Arhgef5 A G 6: 43,250,275 (GRCm39) E342G probably damaging Het
Atp8a1 A T 5: 67,932,064 (GRCm39) probably null Het
Cacna1b A G 2: 24,497,492 (GRCm39) S2140P probably damaging Het
Camsap2 G C 1: 136,208,738 (GRCm39) P918R probably damaging Het
Cdk7 G T 13: 100,843,022 (GRCm39) D202E probably benign Het
Cenpj G T 14: 56,801,427 (GRCm39) A182E probably benign Het
Clstn3 A G 6: 124,409,128 (GRCm39) probably benign Het
Col9a2 C T 4: 120,909,485 (GRCm39) probably benign Het
D630045J12Rik A G 6: 38,116,385 (GRCm39) M1745T probably damaging Het
Dnah11 A C 12: 118,007,509 (GRCm39) N2156K probably damaging Het
Dock3 G T 9: 106,874,195 (GRCm39) Y425* probably null Het
Eng A T 2: 32,569,005 (GRCm39) T511S probably benign Het
Gcfc2 A T 6: 81,920,444 (GRCm39) S410C probably null Het
Grik3 T A 4: 125,579,958 (GRCm39) Y568N probably damaging Het
Gsr T A 8: 34,179,383 (GRCm39) D330E possibly damaging Het
H2-M10.4 A G 17: 36,771,375 (GRCm39) W268R probably damaging Het
Hepacam2 A T 6: 3,467,505 (GRCm39) probably benign Het
Hrct1 C A 4: 43,727,384 (GRCm39) T8K possibly damaging Het
Idua T A 5: 108,829,618 (GRCm39) F447I probably damaging Het
Il2ra T C 2: 11,686,828 (GRCm39) probably benign Het
Ipcef1 A G 10: 6,870,062 (GRCm39) S113P probably damaging Het
Klk1b9 T A 7: 43,628,854 (GRCm39) N119K possibly damaging Het
Krtap9-3 C A 11: 99,488,663 (GRCm39) C73F probably damaging Het
Loxhd1 T A 18: 77,492,562 (GRCm39) F1334L possibly damaging Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Med13 A G 11: 86,191,682 (GRCm39) probably benign Het
Mtor C A 4: 148,549,432 (GRCm39) H605Q probably benign Het
Muc19 A G 15: 91,777,218 (GRCm39) noncoding transcript Het
Mybphl T C 3: 108,282,731 (GRCm39) V207A probably damaging Het
Nptxr A T 15: 79,673,916 (GRCm39) C366S probably null Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5p73 A G 7: 108,064,750 (GRCm39) D73G probably damaging Het
Or8h9 G T 2: 86,789,748 (GRCm39) T18K probably damaging Het
Pcdhb18 T C 18: 37,623,240 (GRCm39) I190T possibly damaging Het
Pde3b A G 7: 114,097,216 (GRCm39) T428A probably benign Het
Pgbd1 A C 13: 21,618,651 (GRCm39) L2R probably damaging Het
Pkp4 A G 2: 59,096,780 (GRCm39) I61V probably damaging Het
Pold4 T G 19: 4,282,593 (GRCm39) Y58* probably null Het
Polr1d A C 5: 147,015,490 (GRCm39) probably null Het
Prex2 T A 1: 11,355,368 (GRCm39) D1556E probably damaging Het
Psmd1 T C 1: 86,061,463 (GRCm39) V891A possibly damaging Het
Rasip1 C A 7: 45,281,999 (GRCm39) P501T probably damaging Het
Scgb2b27 C A 7: 33,711,562 (GRCm39) E96* probably null Het
Sec16b G T 1: 157,380,505 (GRCm39) G359* probably null Het
Secisbp2 A G 13: 51,833,881 (GRCm39) T674A probably benign Het
Serpinb6c G A 13: 34,081,379 (GRCm39) S90L probably benign Het
Sgsm2 A G 11: 74,759,067 (GRCm39) I170T probably damaging Het
Slc28a1 A T 7: 80,767,454 (GRCm39) probably benign Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Spg11 C T 2: 121,886,177 (GRCm39) probably null Het
Spint1 T C 2: 119,078,826 (GRCm39) probably benign Het
Spta1 A G 1: 174,020,526 (GRCm39) H545R probably damaging Het
Tada3 A T 6: 113,343,968 (GRCm39) L227Q probably damaging Het
Tln1 C T 4: 43,549,151 (GRCm39) V644M probably damaging Het
Unc79 G A 12: 103,058,286 (GRCm39) V1016I probably benign Het
Usf3 C A 16: 44,037,269 (GRCm39) A583E probably damaging Het
Ush2a A C 1: 188,263,958 (GRCm39) I1612L probably damaging Het
Vmn2r6 T C 3: 64,447,333 (GRCm39) T578A probably benign Het
Zmat4 T A 8: 24,392,083 (GRCm39) M13K probably damaging 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
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
R6605:Asb2 UTSW 12 103,311,943 (GRCm39) missense probably benign 0.02
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'- TGCTTCTGATGTGTGGTTATCACCC -3'
(R):5'- GCTCTACTTCGCTGTGGTCAACAAC -3'

Sequencing Primer
(F):5'- GTGCCTTGTCGTCCACG -3'
(R):5'- GCTGTGGTCAACAACAATGTG -3'
Posted On 2013-05-09