Incidental Mutation 'R7735:Asb13'
ID 628324
Institutional Source Beutler Lab
Gene Symbol Asb13
Ensembl Gene ENSMUSG00000033781
Gene Name ankyrin repeat and SOCS box-containing 13
Synonyms 6430573K02Rik, 2210015B19Rik
MMRRC Submission 045791-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R7735 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 3684032-3703822 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 3684180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042288]
AlphaFold Q8VBX0
Predicted Effect probably null
Transcript: ENSMUST00000042288
SMART Domains Protein: ENSMUSP00000046476
Gene: ENSMUSG00000033781

DomainStartEndE-ValueType
ANK 18 47 1.25e2 SMART
ANK 51 80 3.91e-3 SMART
ANK 84 113 1.53e-5 SMART
ANK 116 145 3.71e-4 SMART
ANK 149 178 6.65e-6 SMART
ANK 181 210 6.92e-4 SMART
SOCS_box 239 278 2.43e-9 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (58/58)
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 a 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, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,655,629 (GRCm39) T617A probably benign Het
Agl A T 3: 116,578,795 (GRCm39) I446N probably benign Het
Aox1 C T 1: 58,107,451 (GRCm39) P575L probably benign Het
Ap2m1 A T 16: 20,358,269 (GRCm39) I96F probably benign Het
Arhgap15 A G 2: 44,006,642 (GRCm39) D253G probably damaging Het
Arsa A T 15: 89,359,152 (GRCm39) C171* probably null Het
Arsb G T 13: 93,908,491 (GRCm39) R69L probably benign Het
Canx G T 11: 50,191,866 (GRCm39) D348E probably damaging Het
Cebpz C T 17: 79,233,342 (GRCm39) probably null Het
Ces2h A T 8: 105,741,127 (GRCm39) I40L probably benign Het
Cfhr4 A G 1: 139,660,039 (GRCm39) probably null Het
Csmd2 T C 4: 128,350,723 (GRCm39) probably null Het
Cxadr T A 16: 78,125,949 (GRCm39) N106K possibly damaging Het
Ddo T C 10: 40,507,770 (GRCm39) C56R probably benign Het
Dnah6 C T 6: 73,046,412 (GRCm39) G3192D probably damaging Het
Efcab3 T A 11: 104,962,465 (GRCm39) V49E probably benign Het
Epha10 T C 4: 124,807,472 (GRCm39) Y578H Het
Fbxw16 T C 9: 109,270,135 (GRCm39) D202G probably damaging Het
Gzf1 T C 2: 148,530,083 (GRCm39) V538A possibly damaging Het
Igha T A 12: 113,220,019 (GRCm39) probably benign Het
Iqce G T 5: 140,663,839 (GRCm39) Q457K probably benign Het
Kbtbd3 A G 9: 4,330,846 (GRCm39) K407E possibly damaging Het
Lipt1 A G 1: 37,914,703 (GRCm39) E253G probably damaging Het
Mrnip G A 11: 50,087,800 (GRCm39) W107* probably null Het
Mroh4 T C 15: 74,497,357 (GRCm39) T224A probably damaging Het
Ncoa2 A T 1: 13,218,661 (GRCm39) S1389R probably benign Het
Npffr2 A G 5: 89,731,173 (GRCm39) I368V probably benign Het
Nrdc C T 4: 108,895,182 (GRCm39) L469F probably damaging Het
Nup210l A T 3: 90,092,883 (GRCm39) Q1279L probably damaging Het
Or4k47 T A 2: 111,451,819 (GRCm39) N200I probably damaging Het
Or7e170 A G 9: 19,795,410 (GRCm39) Y64H probably damaging Het
Pcdha4 T G 18: 37,085,961 (GRCm39) I48S probably damaging Het
Pip5kl1 A G 2: 32,469,101 (GRCm39) Y211C possibly damaging Het
Prrt4 A T 6: 29,170,035 (GRCm39) S806T possibly damaging Het
Ptpn20 T A 14: 33,352,902 (GRCm39) Y214N probably damaging Het
Ptprt A T 2: 161,417,661 (GRCm39) N938K probably damaging Het
Scn2a G T 2: 65,594,013 (GRCm39) V1621L probably benign Het
Senp3 A G 11: 69,569,087 (GRCm39) I358T probably damaging Het
Sf3b1 A T 1: 55,042,508 (GRCm39) S461T probably benign Het
Slc22a2 C T 17: 12,828,917 (GRCm39) T341I probably damaging Het
Slc38a7 A T 8: 96,568,295 (GRCm39) D363E probably benign Het
Slc6a5 T C 7: 49,598,090 (GRCm39) probably null Het
Smo T A 6: 29,759,851 (GRCm39) V650E probably damaging Het
Spata17 G A 1: 186,872,577 (GRCm39) T31I unknown Het
Sstr2 T A 11: 113,515,423 (GRCm39) I114N possibly damaging Het
Styxl1 T C 5: 135,788,023 (GRCm39) Y146C probably damaging Het
Synpo2l T C 14: 20,711,243 (GRCm39) Q688R possibly damaging Het
Tmem245 C T 4: 56,925,155 (GRCm39) R322H probably benign Het
Tnxb A G 17: 34,890,398 (GRCm39) E247G unknown Het
Ttc28 A T 5: 111,414,544 (GRCm39) probably null Het
Ttn A T 2: 76,718,416 (GRCm39) I7255N unknown Het
Ttn C A 2: 76,652,768 (GRCm39) probably null Het
Unc13b C T 4: 43,165,791 (GRCm39) R204C probably damaging Het
Utrn A G 10: 12,619,787 (GRCm39) probably null Het
Vps53 A T 11: 75,937,962 (GRCm39) F753I probably damaging Het
Ypel1 G T 16: 16,918,124 (GRCm39) S97R probably benign Het
Zdbf2 A G 1: 63,343,264 (GRCm39) T548A possibly damaging Het
Zfp747 G A 7: 126,973,672 (GRCm39) T166M probably damaging Het
Other mutations in Asb13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Asb13 APN 13 3,693,476 (GRCm39) missense probably null 1.00
IGL00929:Asb13 APN 13 3,699,427 (GRCm39) missense probably damaging 1.00
IGL01533:Asb13 APN 13 3,692,164 (GRCm39) missense probably benign 0.05
R0654:Asb13 UTSW 13 3,692,092 (GRCm39) missense probably damaging 1.00
R0694:Asb13 UTSW 13 3,699,480 (GRCm39) missense probably benign 0.16
R0883:Asb13 UTSW 13 3,695,052 (GRCm39) critical splice donor site probably null
R2014:Asb13 UTSW 13 3,699,512 (GRCm39) critical splice donor site probably null
R2290:Asb13 UTSW 13 3,699,418 (GRCm39) missense probably damaging 1.00
R4320:Asb13 UTSW 13 3,695,012 (GRCm39) missense possibly damaging 0.69
R4322:Asb13 UTSW 13 3,695,012 (GRCm39) missense possibly damaging 0.69
R4324:Asb13 UTSW 13 3,695,012 (GRCm39) missense possibly damaging 0.69
R4895:Asb13 UTSW 13 3,693,589 (GRCm39) missense probably damaging 0.99
R5305:Asb13 UTSW 13 3,693,479 (GRCm39) missense probably damaging 1.00
R6417:Asb13 UTSW 13 3,693,574 (GRCm39) missense probably damaging 1.00
R6420:Asb13 UTSW 13 3,693,574 (GRCm39) missense probably damaging 1.00
R6813:Asb13 UTSW 13 3,695,029 (GRCm39) missense probably damaging 1.00
R7648:Asb13 UTSW 13 3,699,332 (GRCm39) missense probably damaging 1.00
R7771:Asb13 UTSW 13 3,699,463 (GRCm39) missense probably damaging 1.00
R7944:Asb13 UTSW 13 3,699,413 (GRCm39) missense probably damaging 1.00
R8143:Asb13 UTSW 13 3,692,065 (GRCm39) missense probably damaging 0.99
R8737:Asb13 UTSW 13 3,692,089 (GRCm39) missense probably damaging 0.97
R8966:Asb13 UTSW 13 3,692,093 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCCATGGTAGCAATCAGG -3'
(R):5'- GCGACAGACATTAAACGTCG -3'

Sequencing Primer
(F):5'- ATGGTAGCAATCAGGCCCCG -3'
(R):5'- TCTGAGATGACCAGGATCGTC -3'
Posted On 2020-03-05