Incidental Mutation 'R1405:Asb8'
ID500232
Institutional Source Beutler Lab
Gene Symbol Asb8
Ensembl Gene ENSMUSG00000048175
Gene Nameankyrin repeat and SOCS box-containing 8
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1405 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location98134637-98165625 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 98141367 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 51 (H51Y)
Ref Sequence ENSEMBL: ENSMUSP00000115813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059112] [ENSMUST00000123626] [ENSMUST00000123922] [ENSMUST00000143400]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059112
AA Change: H51Y

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057864
Gene: ENSMUSG00000048175
AA Change: H51Y

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000123626
AA Change: H51Y

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121383
Gene: ENSMUSG00000048175
AA Change: H51Y

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000123922
AA Change: H51Y

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119481
Gene: ENSMUSG00000048175
AA Change: H51Y

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000143400
AA Change: H51Y

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115813
Gene: ENSMUSG00000048175
AA Change: H51Y

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 96.7%
  • 10x: 83.5%
  • 20x: 53.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 G A 7: 101,398,436 probably null Het
Capn10 T G 1: 92,945,022 V490G probably benign Het
Ccdc146 G A 5: 21,399,732 S36L probably benign Het
Celsr1 C T 15: 85,905,434 probably null Het
Clvs2 C A 10: 33,513,260 *328L probably null Het
Cul9 C G 17: 46,522,175 A1326P probably damaging Het
Dstn A G 2: 143,938,436 K19E probably damaging Het
Ehmt2 T A 17: 34,906,577 H134Q probably benign Het
Faah G A 4: 116,001,148 P411S probably damaging Het
Fn1 A G 1: 71,642,078 F364L probably damaging Het
Gm14124 T A 2: 150,267,700 Y103* probably null Het
Gmnc A T 16: 26,960,446 N270K possibly damaging Het
Grip2 A T 6: 91,788,152 probably null Het
Hmg20a A T 9: 56,477,303 Q119L possibly damaging Het
Ipo7 T C 7: 110,029,841 I106T probably benign Het
Ipo7 C T 7: 110,039,249 P241L probably damaging Het
Katnb1 T C 8: 95,098,173 Y574H probably damaging Het
Larp6 A C 9: 60,737,566 M330L probably benign Het
Lrrc8e T C 8: 4,231,754 Y30H probably damaging Het
Nop56 T C 2: 130,277,948 V420A probably benign Het
Nrg1 T C 8: 31,917,827 D126G probably benign Het
Prdm1 T A 10: 44,439,965 N725I probably damaging Het
Prl3a1 A G 13: 27,275,068 probably null Het
Psmd2 T C 16: 20,652,284 L59P possibly damaging Het
Ptgdr2 T C 19: 10,941,031 V304A probably benign Het
Rasa3 A G 8: 13,588,027 V339A possibly damaging Het
Sec24c G A 14: 20,692,525 probably null Het
Serpinb9e A G 13: 33,260,026 D343G probably benign Het
Sfi1 TCGC TC 11: 3,146,254 probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Stab1 A C 14: 31,149,001 V1297G probably benign Het
Stk4 C T 2: 164,100,528 T360M probably benign Het
Tmprss2 G A 16: 97,596,805 T57I probably benign Het
Tnrc6a A G 7: 123,171,078 D697G probably damaging Het
Vwa5b2 T A 16: 20,604,316 D1021E probably benign Het
Wdr46 C A 17: 33,949,083 P543Q probably damaging Het
Zfp287 T A 11: 62,728,311 D119V probably damaging Het
Zxdc A G 6: 90,384,243 S737G possibly damaging Het
Other mutations in Asb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Asb8 APN 15 98141278 splice site probably benign
IGL01367:Asb8 APN 15 98136173 missense probably damaging 1.00
IGL01375:Asb8 APN 15 98141309 missense probably damaging 0.98
IGL03007:Asb8 APN 15 98142734 missense probably damaging 0.99
IGL03192:Asb8 APN 15 98135895 missense possibly damaging 0.87
R0025:Asb8 UTSW 15 98142671 missense possibly damaging 0.84
R1405:Asb8 UTSW 15 98141367 missense possibly damaging 0.85
R1406:Asb8 UTSW 15 98136423 missense probably damaging 1.00
R1406:Asb8 UTSW 15 98136423 missense probably damaging 1.00
R1570:Asb8 UTSW 15 98136428 missense probably damaging 0.99
R1958:Asb8 UTSW 15 98136216 missense possibly damaging 0.88
R2049:Asb8 UTSW 15 98136069 nonsense probably null
R2060:Asb8 UTSW 15 98141373 missense possibly damaging 0.93
R4448:Asb8 UTSW 15 98141330 missense possibly damaging 0.92
R5835:Asb8 UTSW 15 98136382 missense probably damaging 0.98
R6092:Asb8 UTSW 15 98136242 missense possibly damaging 0.94
R6718:Asb8 UTSW 15 98136134 missense probably benign 0.03
R7052:Asb8 UTSW 15 98136401 missense probably damaging 0.98
R7901:Asb8 UTSW 15 98142733 missense probably damaging 1.00
R7984:Asb8 UTSW 15 98142733 missense probably damaging 1.00
Predicted Primers
Posted On2017-12-01