Incidental Mutation 'R6463:Asb7'
Institutional Source Beutler Lab
Gene Symbol Asb7
Ensembl Gene ENSMUSG00000030509
Gene Nameankyrin repeat and SOCS box-containing 7
SynonymsD030055C23Rik, Asb-7
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.660) question?
Stock #R6463 (G1)
Quality Score225.009
Status Validated
Chromosomal Location66644565-66689596 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 66660236 bp
Amino Acid Change Aspartic acid to Glutamic Acid at position 77 (D77E)
Ref Sequence ENSEMBL: ENSMUSP00000122395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124899] [ENSMUST00000131320]
Predicted Effect probably damaging
Transcript: ENSMUST00000124899
AA Change: D77E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122395
Gene: ENSMUSG00000030509
AA Change: D77E

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
SMART Domains Protein: ENSMUSP00000115921
Gene: ENSMUSG00000030509

ANK 13 42 4.44e2 SMART
ANK 46 75 2.68e-1 SMART
Meta Mutation Damage Score 0.026 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.4%
Validation Efficiency 100% (51/51)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,450,938 H48L probably damaging Het
Aifm3 A G 16: 17,500,789 I185V probably benign Het
Cacna1i T C 15: 80,355,758 I336T probably damaging Het
Cadps2 A T 6: 23,323,334 L1016* probably null Het
Ccdc129 A G 6: 55,968,678 R795G probably benign Het
Cep63 C A 9: 102,596,155 M504I probably benign Het
Chpf2 G T 5: 24,589,526 L231F probably damaging Het
Cnot10 T C 9: 114,625,902 Y221C probably damaging Het
Col3a1 G A 1: 45,342,205 probably benign Het
Csl T C 10: 99,759,098 D35G probably damaging Het
Csmd3 T C 15: 47,676,479 Y2286C probably damaging Het
Dbt A G 3: 116,539,760 E293G possibly damaging Het
Ddx31 T A 2: 28,847,513 probably null Het
Dnm1 T C 2: 32,309,591 probably benign Het
Elfn1 A G 5: 139,972,285 Y348C probably damaging Het
Enpp5 G A 17: 44,085,264 G356S probably damaging Het
Epha5 T A 5: 84,106,710 I657F probably damaging Het
Fbp1 A G 13: 62,865,010 F123S possibly damaging Het
Hkdc1 T C 10: 62,393,702 N732S probably damaging Het
Itfg1 A G 8: 85,736,151 S448P probably benign Het
Izumo2 A G 7: 44,709,074 K84R probably benign Het
Kbtbd3 A G 9: 4,316,921 Y24C probably benign Het
Kif1b T C 4: 149,192,596 M1337V probably benign Het
Mdn1 T C 4: 32,773,308 L5489P probably damaging Het
Mettl2 G A 11: 105,132,581 probably null Het
Mtr T C 13: 12,216,866 T651A probably benign Het
Naglu A G 11: 101,077,351 probably null Het
Nkx6-1 G T 5: 101,659,476 H347N probably damaging Het
Ntpcr A G 8: 125,736,104 E20G probably benign Het
Oas2 T C 5: 120,734,981 R670G probably null Het
Olfr1208 T C 2: 88,897,118 I160V probably benign Het
Olfr239 G A 17: 33,199,638 V197I probably benign Het
Olfr698 C G 7: 106,752,801 E196Q probably benign Het
Phldb2 A C 16: 45,774,993 V902G probably benign Het
Rdh7 T C 10: 127,885,781 R209G probably benign Het
Slc13a3 A C 2: 165,445,653 L127R probably damaging Het
Slc6a20b T A 9: 123,604,949 I275F possibly damaging Het
St3gal1 A G 15: 67,111,346 V187A possibly damaging Het
Tmx4 T C 2: 134,620,639 Y124C probably damaging Het
Trh A T 6: 92,242,843 M164K possibly damaging Het
Trhr A G 15: 44,197,585 N167S probably benign Het
Ttll7 G A 3: 146,931,582 R490Q possibly damaging Het
Uck1 T C 2: 32,258,655 N100S probably benign Het
Ucp3 A T 7: 100,480,269 T104S probably benign Het
Vmn2r28 T A 7: 5,486,436 H468L probably benign Het
Xaf1 G A 11: 72,308,638 R67H probably benign Het
Ypel4 T C 2: 84,736,743 probably benign Het
Zfp687 A G 3: 95,010,784 I559T probably damaging Het
Other mutations in Asb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0471:Asb7 UTSW 7 66679159 missense probably damaging 1.00
R0741:Asb7 UTSW 7 66660134 missense probably benign 0.32
R1937:Asb7 UTSW 7 66679253 missense probably benign 0.31
R2474:Asb7 UTSW 7 66679153 missense probably damaging 1.00
R3054:Asb7 UTSW 7 66679211 missense probably damaging 1.00
R5278:Asb7 UTSW 7 66679185 missense possibly damaging 0.92
R5541:Asb7 UTSW 7 66679269 missense probably benign 0.00
R7421:Asb7 UTSW 7 66660120 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-05-21