Incidental Mutation 'R5602:Asb5'
ID 439083
Institutional Source Beutler Lab
Gene Symbol Asb5
Ensembl Gene ENSMUSG00000031519
Gene Name ankyrin repeat and SOCs box-containing 5
Synonyms 1110018D09Rik
MMRRC Submission 043154-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5602 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 55003366-55040877 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55038974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 280 (E280G)
Ref Sequence ENSEMBL: ENSMUSP00000033918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033918]
AlphaFold Q9D1A4
Predicted Effect probably benign
Transcript: ENSMUST00000033918
AA Change: E280G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000033918
Gene: ENSMUSG00000031519
AA Change: E280G

DomainStartEndE-ValueType
ANK 69 98 6.26e-2 SMART
ANK 102 131 2.45e-4 SMART
ANK 135 164 7.19e-2 SMART
ANK 167 196 5.58e1 SMART
ANK 200 229 9.35e-1 SMART
ANK 232 261 5.32e-5 SMART
SOCS_box 290 329 5.37e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209937
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik G A 2: 151,315,459 (GRCm39) S73F possibly damaging Het
4932414N04Rik A T 2: 68,578,712 (GRCm39) *753L probably null Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 T C 11: 46,027,142 (GRCm39) S592P probably benign Het
Adamtsl3 A G 7: 82,206,447 (GRCm39) K843R possibly damaging Het
Ap2a2 A T 7: 141,184,855 (GRCm39) T213S probably benign Het
Becn1 T C 11: 101,179,778 (GRCm39) D403G probably damaging Het
Ccr7 G T 11: 99,036,315 (GRCm39) N202K probably benign Het
Cd36 T C 5: 18,019,790 (GRCm39) T104A possibly damaging Het
Cnot4 C T 6: 35,028,464 (GRCm39) W384* probably null Het
Col15a1 G A 4: 47,312,087 (GRCm39) V1301M probably damaging Het
Dock2 C A 11: 34,204,391 (GRCm39) A1384S probably benign Het
Ehbp1l1 T C 19: 5,758,698 (GRCm39) E1648G possibly damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Fras1 A G 5: 96,884,880 (GRCm39) Y2586C probably damaging Het
Galm T A 17: 80,457,568 (GRCm39) Y28* probably null Het
Ggt7 A G 2: 155,332,919 (GRCm39) V648A possibly damaging Het
Gm17067 T A 7: 42,357,839 (GRCm39) D221V probably damaging Het
Gpr3 T C 4: 132,937,805 (GRCm39) N289S probably damaging Het
Ighv11-2 A G 12: 114,012,277 (GRCm39) probably benign Het
Ighv11-2 G A 12: 114,012,099 (GRCm39) L39F probably damaging Het
Ipo9 G A 1: 135,329,983 (GRCm39) L486F probably damaging Het
Jak2 T A 19: 29,275,739 (GRCm39) N726K probably benign Het
Map4 T C 9: 109,881,768 (GRCm39) S211P possibly damaging Het
Mlh1 A T 9: 111,081,946 (GRCm39) L259Q probably damaging Het
Naa25 A G 5: 121,558,558 (GRCm39) E300G probably benign Het
Or8g34 A T 9: 39,373,326 (GRCm39) M200L probably benign Het
Or8g54 T A 9: 39,707,490 (GRCm39) V273E possibly damaging Het
Parva G A 7: 112,166,972 (GRCm39) V182I probably benign Het
Pcdhgb4 T C 18: 37,854,697 (GRCm39) I364T probably damaging Het
Pdik1l A G 4: 134,011,580 (GRCm39) S164P probably damaging Het
Pfas A T 11: 68,881,871 (GRCm39) I938N probably benign Het
Plscr1l1 G A 9: 92,234,721 (GRCm39) C152Y possibly damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prob1 C T 18: 35,787,079 (GRCm39) V392M possibly damaging Het
Rasgrf1 T C 9: 89,793,624 (GRCm39) S134P possibly damaging Het
Rorb T A 19: 18,955,301 (GRCm39) Y20F probably damaging Het
Rsph9 G T 17: 46,445,909 (GRCm39) D220E probably damaging Het
Safb2 C A 17: 56,882,630 (GRCm39) K334N possibly damaging Het
Sall3 T C 18: 81,016,027 (GRCm39) T634A probably benign Het
Scaf1 A G 7: 44,657,007 (GRCm39) probably benign Het
Slco1a5 T A 6: 142,221,255 (GRCm39) probably benign Het
Spata21 C T 4: 140,824,210 (GRCm39) R158C probably benign Het
Srrm2 G A 17: 24,038,311 (GRCm39) probably benign Het
Stk38l C A 6: 146,659,998 (GRCm39) T10N probably benign Het
Supv3l1 G A 10: 62,266,371 (GRCm39) P602S possibly damaging Het
Timm44 C T 8: 4,316,769 (GRCm39) probably null Het
Tll2 T A 19: 41,093,420 (GRCm39) R465S possibly damaging Het
Tmem104 G A 11: 115,095,950 (GRCm39) A164T probably damaging Het
Tmem151b A G 17: 45,856,526 (GRCm39) S305P probably damaging Het
Utrn T C 10: 12,625,839 (GRCm39) D114G probably damaging Het
Vmn2r109 A T 17: 20,760,933 (GRCm39) M808K possibly damaging Het
Washc2 T A 6: 116,225,056 (GRCm39) D801E possibly damaging Het
Xkr4 T C 1: 3,286,751 (GRCm39) I480V probably benign Het
Zfp507 G T 7: 35,475,663 (GRCm39) S58* probably null Het
Zfp768 T A 7: 126,943,804 (GRCm39) D108V possibly damaging Het
Other mutations in Asb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Asb5 APN 8 55,036,695 (GRCm39) critical splice donor site probably null
IGL01313:Asb5 APN 8 55,038,798 (GRCm39) splice site probably benign
IGL01383:Asb5 APN 8 55,003,544 (GRCm39) missense probably damaging 1.00
IGL03214:Asb5 APN 8 55,038,098 (GRCm39) missense probably benign 0.30
IGL03403:Asb5 APN 8 55,036,582 (GRCm39) splice site probably benign
R2002:Asb5 UTSW 8 55,036,655 (GRCm39) missense probably damaging 1.00
R4768:Asb5 UTSW 8 55,038,031 (GRCm39) missense probably benign 0.00
R4786:Asb5 UTSW 8 55,038,874 (GRCm39) missense probably benign 0.07
R6475:Asb5 UTSW 8 55,003,610 (GRCm39) missense probably damaging 0.99
R6836:Asb5 UTSW 8 55,038,106 (GRCm39) missense probably benign
R7716:Asb5 UTSW 8 55,038,021 (GRCm39) missense probably benign 0.06
R7775:Asb5 UTSW 8 55,037,827 (GRCm39) missense
R7778:Asb5 UTSW 8 55,037,827 (GRCm39) missense
R7824:Asb5 UTSW 8 55,037,827 (GRCm39) missense
R8156:Asb5 UTSW 8 55,003,541 (GRCm39) missense probably damaging 1.00
R9032:Asb5 UTSW 8 55,038,929 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACATACAGGTGCTGATGTGC -3'
(R):5'- GGGCTCAATTACCCAGTATGC -3'

Sequencing Primer
(F):5'- TGCTGATGTGCACAAAGGC -3'
(R):5'- GTGATGCAGCTAAAAATTGTGTCAG -3'
Posted On 2016-10-26