Incidental Mutation 'R7531:Asb7'
ID 583317
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 045603-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R7531 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 66294313-66339344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66328884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 52 (H52R)
Ref Sequence ENSEMBL: ENSMUSP00000122395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124899] [ENSMUST00000131320]
AlphaFold Q91ZU0
Predicted Effect probably damaging
Transcript: ENSMUST00000124899
AA Change: H52R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122395
Gene: ENSMUSG00000030509
AA Change: H52R

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 damaging
Transcript: ENSMUST00000131320
AA Change: H52R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115921
Gene: ENSMUSG00000030509
AA Change: H52R

DomainStartEndE-ValueType
ANK 13 42 4.44e2 SMART
ANK 46 75 2.68e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (54/54)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,286,332 (GRCm39) T2501S probably damaging Het
Abcg3 A G 5: 105,125,507 (GRCm39) Y59H probably benign Het
Acsf2 G T 11: 94,464,057 (GRCm39) probably null Het
Adam25 T A 8: 41,206,914 (GRCm39) I60K probably damaging Het
Agrn A T 4: 156,254,261 (GRCm39) V1729E probably damaging Het
Aldh9a1 G A 1: 167,177,895 (GRCm39) V31I probably benign Het
Aqp5 T C 15: 99,489,180 (GRCm39) F10L possibly damaging Het
Arfgap2 T A 2: 91,104,089 (GRCm39) probably null Het
Aspa G A 11: 73,204,351 (GRCm39) Q206* probably null Het
Bpgm A G 6: 34,481,223 (GRCm39) I207V possibly damaging Het
Brinp2 A G 1: 158,094,142 (GRCm39) S187P possibly damaging Het
Clec4e A G 6: 123,262,533 (GRCm39) F128S probably benign Het
Crisp3 A G 17: 40,545,629 (GRCm39) F82L probably benign Het
Cry2 A G 2: 92,243,350 (GRCm39) L497P probably damaging Het
Dcxr A G 11: 120,617,832 (GRCm39) V48A probably benign Het
Ddx11 A T 17: 66,445,214 (GRCm39) T379S probably benign Het
Depdc1a A C 3: 159,228,276 (GRCm39) T343P probably damaging Het
Dhx36 T C 3: 62,392,389 (GRCm39) I546V probably damaging Het
Fam114a2 A G 11: 57,404,542 (GRCm39) V74A probably benign Het
Fcgbpl1 T C 7: 27,839,656 (GRCm39) F490L probably benign Het
Flg2 A T 3: 93,108,177 (GRCm39) R68S probably damaging Het
Glb1l3 T C 9: 26,764,950 (GRCm39) I154V possibly damaging Het
Gm45844 T C 7: 7,243,185 (GRCm39) T22A probably benign Het
Gramd2a A T 9: 59,617,193 (GRCm39) I83F probably damaging Het
Hcn4 A G 9: 58,767,420 (GRCm39) T994A unknown Het
Hectd1 C T 12: 51,853,150 (GRCm39) V124I probably benign Het
Hmcn1 A T 1: 150,562,531 (GRCm39) D2342E probably benign Het
Hyal6 A T 6: 24,740,786 (GRCm39) H313L possibly damaging Het
Ifnab T A 4: 88,609,523 (GRCm39) probably benign Het
Keap1 A G 9: 21,148,623 (GRCm39) I128T probably benign Het
Kit T C 5: 75,767,700 (GRCm39) S28P probably damaging Het
Krtap5-3 T A 7: 141,755,942 (GRCm39) C260S unknown Het
Lepr T A 4: 101,609,372 (GRCm39) W320R probably damaging Het
Lmod3 A T 6: 97,225,403 (GRCm39) N139K probably benign Het
Marchf1 C G 8: 66,838,989 (GRCm39) S10R probably benign Het
Naa35 A T 13: 59,765,755 (GRCm39) K380* probably null Het
Npy1r C A 8: 67,157,546 (GRCm39) F285L probably damaging Het
Nr1h3 C T 2: 91,014,739 (GRCm39) R427H probably damaging Het
Or5p79 T A 7: 108,221,269 (GRCm39) N83K probably benign Het
Pate2 A G 9: 35,582,008 (GRCm39) probably null Het
Pcmt1 A G 10: 7,556,369 (GRCm39) probably null Het
Prg4 T G 1: 150,330,786 (GRCm39) E629A unknown Het
Rin2 T G 2: 145,700,419 (GRCm39) S199A probably benign Het
Ror1 T A 4: 100,298,388 (GRCm39) L587Q probably damaging Het
Rsl1 T A 13: 67,324,566 (GRCm39) C31S possibly damaging Het
Scn4a A G 11: 106,239,523 (GRCm39) probably null Het
Sema3a T C 5: 13,615,805 (GRCm39) Y410H probably damaging Het
Smpd5 T C 15: 76,180,539 (GRCm39) V447A probably benign Het
Tax1bp1 A T 6: 52,723,682 (GRCm39) D524V probably benign Het
Tesc A T 5: 118,197,523 (GRCm39) Y179F probably damaging Het
Tm9sf2 T C 14: 122,379,824 (GRCm39) S292P possibly damaging Het
Unc45b A G 11: 82,819,838 (GRCm39) D543G probably damaging Het
Usp4 T A 9: 108,249,879 (GRCm39) V469E probably damaging Het
Vmn1r10 T A 6: 57,090,924 (GRCm39) I172N possibly damaging Het
Zfyve16 A G 13: 92,659,473 (GRCm39) L146S 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
R5541:Asb7 UTSW 7 66,329,017 (GRCm39) missense probably benign 0.00
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
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'- CCCACTCAAGAGTCTGGTTTGG -3'
(R):5'- TGGTGAAAAGCAGACTCCAC -3'

Sequencing Primer
(F):5'- GAGTCTGGTTTGGAATAACACTC -3'
(R):5'- GCAGACTCCACTAGGATGTTAC -3'
Posted On 2019-10-17