Incidental Mutation 'R2379:Asb16'
ID 248397
Institutional Source Beutler Lab
Gene Symbol Asb16
Ensembl Gene ENSMUSG00000034768
Gene Name ankyrin repeat and SOCS box-containing 16
Synonyms
MMRRC Submission 040355-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.212) question?
Stock # R2379 (G1)
Quality Score 196
Status Validated
Chromosome 11
Chromosomal Location 102159577-102170280 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102163357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 116 (T116A)
Ref Sequence ENSEMBL: ENSMUSP00000038450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036467]
AlphaFold Q8VHS5
Predicted Effect probably benign
Transcript: ENSMUST00000036467
AA Change: T116A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000038450
Gene: ENSMUSG00000034768
AA Change: T116A

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
Blast:ANK 56 85 3e-9 BLAST
ANK 110 139 5.29e0 SMART
ANK 142 171 2.1e-3 SMART
ANK 175 204 5.93e-3 SMART
ANK 209 238 1.4e1 SMART
ANK 242 279 9.21e0 SMART
ANK 283 312 2.18e-1 SMART
Blast:ANK 316 352 7e-17 BLAST
Blast:ANK 354 379 2e-8 BLAST
SOCS_box 408 447 1.26e-7 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 93% (37/40)
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T C 11: 53,299,305 (GRCm39) probably benign Het
Anpep T C 7: 79,490,966 (GRCm39) T209A probably benign Het
Brd10 G T 19: 29,696,275 (GRCm39) Q1140K probably benign Het
Btc A T 5: 91,524,768 (GRCm39) probably benign Het
C4b T C 17: 34,954,717 (GRCm39) D860G possibly damaging Het
Cd177 G A 7: 24,457,468 (GRCm39) T191I possibly damaging Het
Cngb1 A G 8: 95,986,758 (GRCm39) L378P probably damaging Het
Ddx60 T C 8: 62,490,122 (GRCm39) F1697S probably damaging Het
Dop1a G A 9: 86,403,138 (GRCm39) S1446N probably damaging Het
Fn1 T A 1: 71,688,443 (GRCm39) K154* probably null Het
Gm10801 G T 2: 98,494,185 (GRCm39) S109I probably benign Het
Ifi204 T A 1: 173,583,559 (GRCm39) R220* probably null Het
Limk1 A G 5: 134,708,335 (GRCm39) probably benign Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mms22l T A 4: 24,496,929 (GRCm39) S8T possibly damaging Het
Mpp7 T A 18: 7,403,345 (GRCm39) R322* probably null Het
Mycbp2 T C 14: 103,412,386 (GRCm39) N2529S probably benign Het
Npr3 A G 15: 11,883,449 (GRCm39) F327L probably damaging Het
Or12j3 A T 7: 139,952,748 (GRCm39) Y258* probably null Het
Or14c41 T G 7: 86,235,400 (GRCm39) F306V probably benign Het
Or14c46 T C 7: 85,918,857 (GRCm39) T47A probably damaging Het
Or51f5 A T 7: 102,424,052 (GRCm39) H107L probably benign Het
Or5p1 T C 7: 107,916,499 (GRCm39) S133P probably benign Het
Or6c217 A T 10: 129,737,781 (GRCm39) V266E probably damaging Het
Or7e177 T C 9: 20,211,963 (GRCm39) S157P possibly damaging Het
Pld2 A T 11: 70,445,140 (GRCm39) Y580F probably benign Het
Scart2 A T 7: 139,879,682 (GRCm39) D990V probably benign Het
Sik3 A G 9: 46,066,707 (GRCm39) E162G probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spen T C 4: 141,244,238 (GRCm39) T266A unknown Het
Tnks1bp1 A G 2: 84,894,182 (GRCm39) S1370G probably benign Het
Usp28 A G 9: 48,914,395 (GRCm39) R99G probably null Het
Vmn2r13 T G 5: 109,319,644 (GRCm39) E445D probably benign Het
Vmn2r27 A G 6: 124,201,342 (GRCm39) I205T possibly damaging Het
Other mutations in Asb16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Asb16 APN 11 102,167,575 (GRCm39) missense probably damaging 1.00
R1540:Asb16 UTSW 11 102,163,402 (GRCm39) missense probably benign 0.37
R1589:Asb16 UTSW 11 102,159,821 (GRCm39) missense probably damaging 1.00
R1845:Asb16 UTSW 11 102,167,582 (GRCm39) missense possibly damaging 0.54
R3686:Asb16 UTSW 11 102,159,885 (GRCm39) missense probably benign 0.19
R4591:Asb16 UTSW 11 102,167,551 (GRCm39) missense probably damaging 0.97
R5205:Asb16 UTSW 11 102,159,820 (GRCm39) missense probably damaging 1.00
R6505:Asb16 UTSW 11 102,167,303 (GRCm39) missense probably damaging 0.99
R6649:Asb16 UTSW 11 102,159,863 (GRCm39) missense possibly damaging 0.56
R7275:Asb16 UTSW 11 102,159,935 (GRCm39) missense probably damaging 1.00
R7436:Asb16 UTSW 11 102,163,481 (GRCm39) missense possibly damaging 0.87
R7828:Asb16 UTSW 11 102,168,753 (GRCm39) missense probably benign 0.02
R7935:Asb16 UTSW 11 102,168,739 (GRCm39) missense probably benign
R8863:Asb16 UTSW 11 102,168,058 (GRCm39) missense probably damaging 1.00
R9696:Asb16 UTSW 11 102,159,766 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGCTCTTCCAACGTATACTCC -3'
(R):5'- CGATACATTAGCCTTGGCACC -3'

Sequencing Primer
(F):5'- GCTTTGAGTGGACCCCCTAAC -3'
(R):5'- GATACATTAGCCTTGGCACCAAATG -3'
Posted On 2014-11-11