Incidental Mutation 'IGL01878:Asb2'
ID 178956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asb2
Ensembl Gene ENSMUSG00000021200
Gene Name ankyrin repeat and SOCS box-containing 2
Synonyms 1110008E15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01878
Quality Score
Status
Chromosome 12
Chromosomal Location 103287401-103322260 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103287922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 546 (P546S)
Ref Sequence ENSEMBL: ENSMUSP00000117595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021617] [ENSMUST00000149431] [ENSMUST00000179363] [ENSMUST00000191218]
AlphaFold Q8K0L0
Predicted Effect probably benign
Transcript: ENSMUST00000021617
AA Change: P594S

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: P594S

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: P546S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200
AA Change: P546S

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
Predicted Effect probably benign
Transcript: ENSMUST00000179363
SMART Domains Protein: ENSMUSP00000136681
Gene: ENSMUSG00000096753

DomainStartEndE-ValueType
Pfam:FAM181 1 280 9.5e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191218
SMART Domains Protein: ENSMUSP00000140842
Gene: ENSMUSG00000096753

DomainStartEndE-ValueType
Pfam:FAM181 1 280 6.7e-87 PFAM
Coding Region Coverage
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox8 G T 11: 69,087,864 (GRCm39) Q147K probably benign Het
Ankib1 T A 5: 3,784,152 (GRCm39) M275L possibly damaging Het
B9d1 T C 11: 61,398,449 (GRCm39) probably benign Het
Col12a1 T C 9: 79,557,257 (GRCm39) D1957G possibly damaging Het
Cryzl2 T C 1: 157,299,970 (GRCm39) V44A possibly damaging Het
Fbxw19 A C 9: 109,312,347 (GRCm39) probably benign Het
Gabrb3 T C 7: 57,466,163 (GRCm39) F326L probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm11168 T C 9: 3,005,204 (GRCm39) C16R probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm7808 T A 9: 19,839,542 (GRCm39) probably benign Het
Gpam T C 19: 55,071,806 (GRCm39) I312V probably benign Het
H2-M10.5 A G 17: 37,084,708 (GRCm39) Y144C probably damaging Het
Hivep3 T C 4: 119,952,424 (GRCm39) S247P possibly damaging Het
Hs3st4 T G 7: 123,996,536 (GRCm39) C401G probably damaging Het
Klhl2 A G 8: 65,212,858 (GRCm39) V227A probably damaging Het
Lct T C 1: 128,222,003 (GRCm39) N1512S probably damaging Het
Lipm T A 19: 34,093,911 (GRCm39) L276Q possibly damaging Het
Lmf2 T A 15: 89,236,621 (GRCm39) H515L probably damaging Het
Mccc1 G A 3: 36,030,041 (GRCm39) S423L probably damaging Het
Mettl21e G A 1: 44,250,193 (GRCm39) S71L probably null Het
Muc16 T A 9: 18,406,839 (GRCm39) H251L possibly damaging Het
Neb T C 2: 52,059,852 (GRCm39) probably benign Het
Ntf5 T C 7: 45,065,450 (GRCm39) I194T probably damaging Het
Or10ag58 T C 2: 87,265,314 (GRCm39) I161T possibly damaging Het
Or1o4 A G 17: 37,590,891 (GRCm39) V140A possibly damaging Het
Or2w6 T C 13: 21,842,953 (GRCm39) D180G possibly damaging Het
Or4x11 T C 2: 89,867,478 (GRCm39) S72P probably damaging Het
Or9m1 A T 2: 87,733,675 (GRCm39) L115* probably null Het
Pigv T C 4: 133,392,428 (GRCm39) I247M probably benign Het
Pik3r5 A G 11: 68,383,356 (GRCm39) N392D probably benign Het
Postn A G 3: 54,290,901 (GRCm39) probably null Het
Prl2c5 G A 13: 13,360,402 (GRCm39) S23N probably benign Het
Prpf40b T C 15: 99,204,413 (GRCm39) C220R possibly damaging Het
Pzp A G 6: 128,472,261 (GRCm39) S843P probably damaging Het
Rpl23 C A 11: 97,669,177 (GRCm39) R85L probably benign Het
Shcbp1 A G 8: 4,799,721 (GRCm39) S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 (GRCm39) probably null Het
Sptbn4 T C 7: 27,063,571 (GRCm39) E2285G probably damaging Het
Telo2 G T 17: 25,320,332 (GRCm39) T784K probably benign Het
Tnfrsf19 C T 14: 61,234,093 (GRCm39) V136M probably damaging Het
Trpm5 T A 7: 142,628,234 (GRCm39) I22F probably damaging Het
Trpv6 G T 6: 41,603,801 (GRCm39) probably benign Het
Vmn1r173 T G 7: 23,401,877 (GRCm39) H37Q probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Xpo6 T A 7: 125,773,365 (GRCm39) H20L probably benign Het
Zfp462 T C 4: 55,010,613 (GRCm39) Y860H probably damaging Het
Other mutations in Asb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01702:Asb2 APN 12 103,302,164 (GRCm39) missense possibly damaging 0.93
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
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
Posted On 2014-05-07