Incidental Mutation 'IGL02936:Asb2'
ID364323
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asb2
Ensembl Gene ENSMUSG00000021200
Gene Nameankyrin repeat and SOCS box-containing 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL02936
Quality Score
Status
Chromosome12
Chromosomal Location103321142-103356001 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103335914 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 125 (I125T)
Ref Sequence ENSEMBL: ENSMUSP00000021617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021617] [ENSMUST00000149431]
Predicted Effect probably benign
Transcript: ENSMUST00000021617
AA Change: I125T

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: I125T

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 noncoding transcript
Transcript: ENSMUST00000135694
Predicted Effect probably benign
Transcript: ENSMUST00000149431
AA Change: I77T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200
AA Change: I77T

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 noncoding transcript
Transcript: ENSMUST00000160463
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,258,404 T229I possibly damaging Het
Acad11 T C 9: 104,113,512 S439P probably benign Het
Acer2 A T 4: 86,900,559 N148I possibly damaging Het
Adgre1 A G 17: 57,478,833 I860V probably benign Het
Atp13a2 G T 4: 141,001,949 L614F probably benign Het
Car7 A G 8: 104,548,222 T132A possibly damaging Het
Ccdc36 T C 9: 108,412,503 I173M possibly damaging Het
Cfap221 T C 1: 119,984,752 D135G probably damaging Het
Crtc3 A G 7: 80,589,763 F614L probably damaging Het
Csn3 T G 5: 87,930,133 I166S possibly damaging Het
Dna2 T G 10: 62,957,100 L298R probably damaging Het
Ece1 T C 4: 137,946,301 S387P probably benign Het
Fbxo28 C T 1: 182,341,528 G15D unknown Het
Fbxw24 A T 9: 109,624,958 probably null Het
Foxd3 T A 4: 99,656,815 V64E probably benign Het
Galnt7 A C 8: 57,584,214 V47G probably benign Het
Gcc2 A T 10: 58,296,140 L1453F probably damaging Het
Gcnt4 G A 13: 96,946,411 V72I probably benign Het
Gm10269 A C 18: 20,682,953 probably null Het
Hmcn1 T G 1: 150,697,522 Q2125H probably damaging Het
Llcfc1 T A 6: 41,684,659 S48T probably benign Het
Met G T 6: 17,553,397 V1061F probably damaging Het
Mthfd2 G A 6: 83,311,360 H138Y probably damaging Het
Mtus1 A T 8: 40,999,517 D1041E possibly damaging Het
Mug2 G A 6: 122,081,387 probably null Het
Nos3 C T 5: 24,380,993 T878I probably damaging Het
Olfr1211 A G 2: 88,929,784 M177T probably benign Het
Olfr690 A T 7: 105,330,005 Y62* probably null Het
Pbrm1 T A 14: 31,061,513 V497D probably damaging Het
Plcd1 T C 9: 119,074,199 E471G probably damaging Het
Poc1a A G 9: 106,285,027 T84A probably damaging Het
Ppm1f A G 16: 16,915,236 H209R probably damaging Het
Rccd1 T A 7: 80,317,046 K329N probably damaging Het
Serpinb9g A T 13: 33,494,882 N245I possibly damaging Het
Slc22a26 A C 19: 7,791,105 F196V probably damaging Het
Tial1 G A 7: 128,442,663 probably benign Het
Trpa1 A T 1: 14,875,969 probably null Het
Vmn1r15 A T 6: 57,258,818 K224* probably null Het
Wdr72 A T 9: 74,152,580 D424V probably damaging Het
Wt1 A G 2: 105,169,039 K308E probably damaging Het
Zwint T C 10: 72,657,124 S193P probably damaging Het
Other mutations in Asb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01702:Asb2 APN 12 103335905 missense possibly damaging 0.93
IGL01878:Asb2 APN 12 103321663 missense possibly damaging 0.89
IGL02103:Asb2 APN 12 103333496 nonsense probably null
R0178:Asb2 UTSW 12 103325552 missense probably damaging 1.00
R0208:Asb2 UTSW 12 103325271 missense possibly damaging 0.77
R0844:Asb2 UTSW 12 103325546 missense probably damaging 1.00
R1309:Asb2 UTSW 12 103325408 missense probably benign
R2931:Asb2 UTSW 12 103334887 missense probably damaging 1.00
R4057:Asb2 UTSW 12 103325394 missense probably benign
R4735:Asb2 UTSW 12 103325058 missense probably benign 0.43
R4754:Asb2 UTSW 12 103323837 missense possibly damaging 0.95
R5916:Asb2 UTSW 12 103323876 missense probably damaging 1.00
R5946:Asb2 UTSW 12 103321555 missense probably benign 0.00
R6349:Asb2 UTSW 12 103345859 start codon destroyed probably null 0.07
R6605:Asb2 UTSW 12 103345684 missense probably benign 0.02
R7317:Asb2 UTSW 12 103333357 missense probably damaging 0.99
Posted On2015-12-18