Incidental Mutation 'R5541:Asb7'
ID 435961
Institutional Source Beutler Lab
Gene Symbol Asb7
Ensembl Gene ENSMUSG00000030509
Gene Name ankyrin repeat and SOCS box-containing 7
Synonyms Asb-7, D030055C23Rik
MMRRC Submission 043099-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R5541 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 66294313-66339344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66329017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 8 (R8G)
Ref Sequence ENSEMBL: ENSMUSP00000115921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124899] [ENSMUST00000131320]
AlphaFold Q91ZU0
Predicted Effect noncoding transcript
Transcript: ENSMUST00000068980
SMART Domains Protein: ENSMUSP00000070866
Gene: ENSMUSG00000030509

DomainStartEndE-ValueType
ANK 13 42 4.44e2 SMART
ANK 46 75 2.68e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124899
AA Change: R8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122395
Gene: ENSMUSG00000030509
AA Change: R8G

DomainStartEndE-ValueType
ANK 13 42 4.44e2 SMART
ANK 46 75 2.62e-4 SMART
ANK 80 112 2.07e-2 SMART
ANK 116 145 1.61e-4 SMART
ANK 149 178 6.46e-4 SMART
ANK 180 208 2.02e3 SMART
ANK 213 242 4.82e-3 SMART
SOCS_box 275 314 1.54e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131320
AA Change: R8G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115921
Gene: ENSMUSG00000030509
AA Change: R8G

DomainStartEndE-ValueType
ANK 13 42 4.44e2 SMART
ANK 46 75 2.68e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207210
Meta Mutation Damage Score 0.1222 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,061,808 (GRCm39) K86R probably benign Het
Abca13 T C 11: 9,241,545 (GRCm39) V1136A probably benign Het
Arfgap2 G A 2: 91,106,114 (GRCm39) R530H probably benign Het
Arhgap30 T C 1: 171,231,707 (GRCm39) probably null Het
Bod1l T C 5: 41,949,276 (GRCm39) N2949D probably benign Het
Ccdc86 T C 19: 10,925,918 (GRCm39) E227G probably damaging Het
Cercam A G 2: 29,765,641 (GRCm39) D261G probably benign Het
Chd9 A T 8: 91,778,132 (GRCm39) E2714D probably benign Het
Dcp1a T A 14: 30,224,796 (GRCm39) S126R probably damaging Het
Defa17 T A 8: 22,146,565 (GRCm39) C64S probably damaging Het
Depdc5 A T 5: 33,021,973 (GRCm39) probably benign Het
Dhx29 A G 13: 113,076,908 (GRCm39) N259S possibly damaging Het
Dnah6 A T 6: 73,169,971 (GRCm39) L323Q possibly damaging Het
Dnah9 T C 11: 66,036,162 (GRCm39) Y416C probably damaging Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Fbxw15 T G 9: 109,394,498 (GRCm39) I106L probably benign Het
Flacc1 A G 1: 58,697,588 (GRCm39) M384T probably benign Het
Gm10610 A G 7: 83,198,614 (GRCm39) noncoding transcript Het
Gpr22 A G 12: 31,759,348 (GRCm39) F258S probably damaging Het
Grip1 A T 10: 119,908,623 (GRCm39) I618F probably damaging Het
Hspg2 C T 4: 137,247,862 (GRCm39) T1233I probably damaging Het
Hspg2 C A 4: 137,270,136 (GRCm39) Q2365K probably benign Het
Intu A G 3: 40,647,017 (GRCm39) probably null Het
Kdm1b T C 13: 47,232,672 (GRCm39) M714T probably damaging Het
Kif21a A G 15: 90,852,316 (GRCm39) M924T probably damaging Het
Klb A T 5: 65,536,577 (GRCm39) M636L probably benign Het
Klrb1a G A 6: 128,586,699 (GRCm39) H219Y probably benign Het
Macroh2a2 T C 10: 61,583,496 (GRCm39) I215V probably benign Het
Marchf10 C T 11: 105,280,957 (GRCm39) D443N probably damaging Het
Nos1 A G 5: 118,043,459 (GRCm39) E578G probably damaging Het
Or8b39 T C 9: 37,996,419 (GRCm39) C96R probably damaging Het
Or9i1 T C 19: 13,839,328 (GRCm39) I57T probably benign Het
Pard3b A G 1: 61,678,502 (GRCm39) Y34C probably damaging Het
Pcdh17 T A 14: 84,684,856 (GRCm39) V441E probably damaging Het
Pde6g A T 11: 120,338,998 (GRCm39) I64N probably damaging Het
Pdia4 C T 6: 47,773,571 (GRCm39) V593M probably damaging Het
Pnn T G 12: 59,118,716 (GRCm39) V433G possibly damaging Het
Rbak G A 5: 143,159,745 (GRCm39) S436F probably damaging Het
Rpl11 A G 4: 135,780,043 (GRCm39) probably benign Het
Ryr1 G T 7: 28,785,610 (GRCm39) Q1701K probably damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Smg1 T A 7: 117,756,386 (GRCm39) probably benign Het
St8sia2 T C 7: 73,616,648 (GRCm39) D109G probably benign Het
Stk-ps1 T A 17: 36,709,105 (GRCm39) noncoding transcript Het
Stxbp3-ps C T 19: 9,535,334 (GRCm39) noncoding transcript Het
Taf1d T A 9: 15,220,146 (GRCm39) F132I probably damaging Het
Tfap2b A G 1: 19,284,250 (GRCm39) S35G possibly damaging Het
Tnk2 C T 16: 32,488,341 (GRCm39) T198I probably benign Het
Trappc2b T C 11: 51,576,796 (GRCm39) H34R probably benign Het
Ube2q2 T A 9: 55,099,163 (GRCm39) V168E possibly damaging Het
Ucma A G 2: 4,986,141 (GRCm39) R105G probably benign Het
Vmn2r97 C T 17: 19,148,617 (GRCm39) Q171* probably null Het
Wapl T C 14: 34,452,619 (GRCm39) probably null Het
Zfand4 T A 6: 116,291,256 (GRCm39) C397S possibly damaging Het
Zfhx3 A G 8: 109,675,583 (GRCm39) N2211S probably damaging Het
Zfp143 G T 7: 109,669,687 (GRCm39) G39C probably benign Het
Zfp568 T A 7: 29,722,301 (GRCm39) D414E possibly damaging Het
Zfp574 C T 7: 24,781,375 (GRCm39) A799V probably damaging Het
Other mutations in Asb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0471:Asb7 UTSW 7 66,328,907 (GRCm39) missense probably damaging 1.00
R0741:Asb7 UTSW 7 66,309,882 (GRCm39) missense probably benign 0.32
R1937:Asb7 UTSW 7 66,329,001 (GRCm39) missense probably benign 0.31
R2474:Asb7 UTSW 7 66,328,901 (GRCm39) missense probably damaging 1.00
R3054:Asb7 UTSW 7 66,328,959 (GRCm39) missense probably damaging 1.00
R5278:Asb7 UTSW 7 66,328,933 (GRCm39) missense possibly damaging 0.92
R6463:Asb7 UTSW 7 66,309,984 (GRCm39) missense probably damaging 1.00
R7421:Asb7 UTSW 7 66,309,868 (GRCm39) missense probably damaging 1.00
R7531:Asb7 UTSW 7 66,328,884 (GRCm39) missense probably damaging 1.00
R8044:Asb7 UTSW 7 66,309,511 (GRCm39) missense probably benign 0.00
R8050:Asb7 UTSW 7 66,328,932 (GRCm39) missense probably benign 0.22
R8145:Asb7 UTSW 7 66,309,696 (GRCm39) missense probably benign
R8326:Asb7 UTSW 7 66,309,675 (GRCm39) missense possibly damaging 0.84
R9057:Asb7 UTSW 7 66,309,395 (GRCm39) splice site probably benign
R9425:Asb7 UTSW 7 66,328,987 (GRCm39) missense possibly damaging 0.65
RF024:Asb7 UTSW 7 66,297,631 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCTGCATCCAGTGAACTCAC -3'
(R):5'- GGCCAGTCTTGTTGAACTGC -3'

Sequencing Primer
(F):5'- TCACCTCCGTGTTCCAGAAAC -3'
(R):5'- GAACTGCTGTCTGTTACTGTCCTG -3'
Posted On 2016-10-24