Incidental Mutation 'R5916:Asb2'
ID 461351
Institutional Source Beutler Lab
Gene Symbol Asb2
Ensembl Gene ENSMUSG00000021200
Gene Name ankyrin repeat and SOCS box-containing 2
Synonyms
MMRRC Submission 044113-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5916 (G1)
Quality Score 108
Status Not validated
Chromosome 12
Chromosomal Location 103321142-103356001 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 103323876 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 504 (A504E)
Ref Sequence ENSEMBL: ENSMUSP00000117595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021617] [ENSMUST00000149431]
AlphaFold Q8K0L0
Predicted Effect possibly damaging
Transcript: ENSMUST00000021617
AA Change: A552E

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200
AA Change: A552E

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 probably damaging
Transcript: ENSMUST00000149431
AA Change: A504E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200
AA Change: A504E

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.2%
  • 20x: 92.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik C T 6: 149,326,578 T374I probably damaging Het
4930563D23Rik T A 16: 92,320,671 E243V probably damaging Het
Aadacl4 A T 4: 144,622,980 N269I possibly damaging Het
Abcc1 G T 16: 14,465,142 V1161F possibly damaging Het
Adam3 A T 8: 24,684,539 probably null Het
Agt A T 8: 124,563,858 S237T possibly damaging Het
Ano3 A T 2: 110,681,836 F674L probably benign Het
Atp13a1 T A 8: 69,807,098 I1113N probably damaging Het
Atxn7l2 T C 3: 108,205,662 probably null Het
Bambi A G 18: 3,511,463 T95A probably benign Het
Ccdc173 A T 2: 69,789,462 M1K probably null Het
Clrn1 T C 3: 58,846,362 T193A probably benign Het
Colgalt2 T A 1: 152,504,122 D437E probably damaging Het
Dchs1 C A 7: 105,759,166 A1820S probably damaging Het
Dnah12 T A 14: 26,706,918 I233N possibly damaging Het
Dsc3 T C 18: 19,987,020 N194D probably damaging Het
Dync2h1 A G 9: 7,102,309 probably null Het
Erich3 A T 3: 154,695,823 R36S probably damaging Het
Fmnl3 A T 15: 99,321,828 C680S probably damaging Het
Focad T C 4: 88,357,541 L1129P unknown Het
Fzd3 G A 14: 65,202,729 T664I probably benign Het
Glb1l3 T C 9: 26,854,736 I129V probably benign Het
Heatr1 T C 13: 12,434,471 F1950S probably damaging Het
Herc6 G A 6: 57,646,203 G597E probably benign Het
Hmcn2 T A 2: 31,396,139 V2101D probably damaging Het
Il17re T A 6: 113,470,123 C612S probably damaging Het
Il1f9 T G 2: 24,192,794 *194E probably null Het
Junb T C 8: 84,977,876 Y185C probably benign Het
Lrriq1 G A 10: 103,221,382 Q186* probably null Het
Lrrn2 T A 1: 132,937,800 V201E probably damaging Het
Ly6l A T 15: 75,451,178 T68S probably benign Het
March1 G T 8: 66,387,111 R182L possibly damaging Het
Megf6 A G 4: 154,249,425 probably null Het
Mga T A 2: 119,964,312 S2708T probably benign Het
Mx1 T C 16: 97,451,733 T396A probably benign Het
Naip5 A C 13: 100,222,701 S676A probably benign Het
Npepl1 G T 2: 174,121,544 W456C probably benign Het
Ntrk2 A G 13: 58,808,729 M1V probably null Het
Nufip1 T C 14: 76,134,900 *485Q probably null Het
Ocln T G 13: 100,506,179 D216A possibly damaging Het
Olfr108 C T 17: 37,445,679 L53F probably benign Het
Olfr1308 A G 2: 111,960,830 M81T probably damaging Het
Olfr417 A T 1: 174,369,132 T72S probably damaging Het
Olfr544 G A 7: 102,484,379 S247F probably damaging Het
Papd4 T C 13: 93,175,547 D215G probably damaging Het
Ptprq A T 10: 107,523,513 M2243K probably damaging Het
Rad51b C T 12: 79,325,082 Q190* probably null Het
Rfx8 T C 1: 39,688,619 Y182C probably benign Het
Rpgrip1l C A 8: 91,252,913 R967L possibly damaging Het
Scube2 A G 7: 109,831,724 Y423H possibly damaging Het
Sipa1l2 A T 8: 125,468,573 Y809N probably damaging Het
Slc35f1 C A 10: 52,933,221 Y101* probably null Het
Tbc1d22a A G 15: 86,214,608 K12E possibly damaging Het
Tmcc2 C T 1: 132,357,691 V646M probably damaging Het
Tpp1 A T 7: 105,749,380 M243K probably damaging Het
Trappc12 A G 12: 28,691,514 L732P probably damaging Het
U2af2 A T 7: 5,079,180 probably null Het
Utrn T A 10: 12,665,051 N1877Y probably damaging Het
Vsir C T 10: 60,358,037 T93I probably damaging Het
Zkscan5 T A 5: 145,205,302 M3K possibly damaging Het
Zscan29 G T 2: 121,164,037 T489N probably damaging Het
Other mutations in Asb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01702:Asb2 APN 12 103,335,905 (GRCm38) missense possibly damaging 0.93
IGL01878:Asb2 APN 12 103,321,663 (GRCm38) missense possibly damaging 0.89
IGL02103:Asb2 APN 12 103,333,496 (GRCm38) nonsense probably null
IGL02936:Asb2 APN 12 103,335,914 (GRCm38) missense probably benign 0.04
R0178:Asb2 UTSW 12 103,325,552 (GRCm38) missense probably damaging 1.00
R0208:Asb2 UTSW 12 103,325,271 (GRCm38) missense possibly damaging 0.77
R0844:Asb2 UTSW 12 103,325,546 (GRCm38) missense probably damaging 1.00
R1309:Asb2 UTSW 12 103,325,408 (GRCm38) missense probably benign
R2931:Asb2 UTSW 12 103,334,887 (GRCm38) missense probably damaging 1.00
R4057:Asb2 UTSW 12 103,325,394 (GRCm38) missense probably benign
R4735:Asb2 UTSW 12 103,325,058 (GRCm38) missense probably benign 0.43
R4754:Asb2 UTSW 12 103,323,837 (GRCm38) missense possibly damaging 0.95
R5946:Asb2 UTSW 12 103,321,555 (GRCm38) missense probably benign 0.00
R6349:Asb2 UTSW 12 103,345,859 (GRCm38) start codon destroyed probably null 0.07
R6605:Asb2 UTSW 12 103,345,684 (GRCm38) missense probably benign 0.02
R7317:Asb2 UTSW 12 103,333,357 (GRCm38) missense probably damaging 0.99
R8720:Asb2 UTSW 12 103,325,421 (GRCm38) missense probably damaging 1.00
R8828:Asb2 UTSW 12 103,338,198 (GRCm38) missense probably benign 0.00
R8873:Asb2 UTSW 12 103,333,466 (GRCm38) missense probably damaging 0.98
R8878:Asb2 UTSW 12 103,323,879 (GRCm38) missense possibly damaging 0.73
R9304:Asb2 UTSW 12 103,335,966 (GRCm38) missense probably damaging 0.99
R9333:Asb2 UTSW 12 103,345,696 (GRCm38) nonsense probably null
R9352:Asb2 UTSW 12 103,330,439 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTAGCTATGCGACTCTGG -3'
(R):5'- GTCAGGTAGTAGATGCCAGTG -3'

Sequencing Primer
(F):5'- ATATGGGTCACACTGCCTGAG -3'
(R):5'- TAGTAGATGCCAGTGCCCAG -3'
Posted On 2017-02-28