Incidental Mutation 'R3054:Asb7'
Institutional Source Beutler Lab
Gene Symbol Asb7
Ensembl Gene ENSMUSG00000030509
Gene Nameankyrin repeat and SOCS box-containing 7
SynonymsD030055C23Rik, Asb-7
MMRRC Submission 040563-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.429) question?
Stock #R3054 (G1)
Quality Score225
Status Not validated
Chromosomal Location66644565-66689596 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 66679211 bp
Amino Acid Change Valine to Aspartic acid at position 27 (V27D)
Ref Sequence ENSEMBL: ENSMUSP00000115921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124899] [ENSMUST00000131320]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000068980
SMART Domains Protein: ENSMUSP00000070866
Gene: ENSMUSG00000030509

ANK 13 42 4.44e2 SMART
ANK 46 75 2.68e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000124899
AA Change: V27D

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122395
Gene: ENSMUSG00000030509
AA Change: V27D

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: V27D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115921
Gene: ENSMUSG00000030509
AA Change: V27D

ANK 13 42 4.44e2 SMART
ANK 46 75 2.68e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207210
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A T 6: 52,179,128 probably benign Het
Aldh1l2 T C 10: 83,502,472 K528E probably benign Het
Als2 A G 1: 59,215,494 C235R probably damaging Het
Armc6 C A 8: 70,225,149 V177L probably benign Het
Bard1 A G 1: 71,088,231 V73A possibly damaging Het
Ccdc150 A G 1: 54,288,842 N361S possibly damaging Het
Cntn5 A G 9: 10,419,071 L7P probably benign Het
Cst3 A G 2: 148,872,031 S118P probably damaging Het
Cyp2a22 T C 7: 26,938,829 D84G probably damaging Het
D330045A20Rik T A X: 139,511,557 V439E possibly damaging Het
Ddo A G 10: 40,631,742 N45S probably benign Het
Drd4 T C 7: 141,294,479 V319A probably damaging Het
Fat3 C T 9: 15,960,496 R3533H probably benign Het
Fras1 A T 5: 96,764,943 I3369F probably damaging Het
Gm5591 T C 7: 38,520,634 S272G probably benign Het
Gm8444 A T 15: 81,843,644 probably benign Het
Gm9776 A G 13: 94,358,650 probably benign Het
Kdm1b C T 13: 47,063,077 R308W probably damaging Het
Larp1b A T 3: 40,964,100 I59F probably benign Het
Ltn1 C T 16: 87,404,073 A1092T probably benign Het
Map1b A G 13: 99,432,742 V1157A unknown Het
Mboat1 A T 13: 30,195,741 M92L probably benign Het
Meis3 G T 7: 16,182,453 L284F probably damaging Het
Muc20 T C 16: 32,779,029 F3317L probably benign Het
Muc5b G T 7: 141,864,041 V3575F probably damaging Het
Polr1e C T 4: 45,018,724 T18I possibly damaging Het
Ppp4r1 G T 17: 65,836,079 A764S probably damaging Het
Psg29 A G 7: 17,208,802 T243A probably benign Het
Ptprn2 T C 12: 116,722,133 Y71H probably damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Sh3bp1 C T 15: 78,911,422 P584S probably benign Het
Slc4a4 T C 5: 89,225,948 V971A probably damaging Het
Stil T A 4: 115,004,966 H35Q probably damaging Het
Strn A T 17: 78,682,892 V65D probably damaging Het
Sumf1 T C 6: 108,153,204 N185D probably benign Het
Timm29 T C 9: 21,593,591 M185T probably damaging Het
Tjp3 T C 10: 81,280,507 K251R probably benign Het
Tubgcp6 A T 15: 89,122,603 M72K probably damaging Het
Utp14b T A 1: 78,664,725 D113E possibly damaging Het
Vps13b A G 15: 35,646,361 E1537G probably damaging Het
Zfr A G 15: 12,154,507 N592S 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
R5278:Asb7 UTSW 7 66679185 missense possibly damaging 0.92
R5541:Asb7 UTSW 7 66679269 missense probably benign 0.00
R6463:Asb7 UTSW 7 66660236 missense probably damaging 1.00
R7421:Asb7 UTSW 7 66660120 missense probably damaging 1.00
R7531:Asb7 UTSW 7 66679136 missense probably damaging 1.00
R8044:Asb7 UTSW 7 66659763 missense probably benign 0.00
R8050:Asb7 UTSW 7 66679184 missense probably benign 0.22
R8145:Asb7 UTSW 7 66659948 missense probably benign
R8326:Asb7 UTSW 7 66659927 missense possibly damaging 0.84
RF024:Asb7 UTSW 7 66647883 missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-02-05