Incidental Mutation 'R1406:Asb8'
ID 160399
Institutional Source Beutler Lab
Gene Symbol Asb8
Ensembl Gene ENSMUSG00000048175
Gene Name ankyrin repeat and SOCS box-containing 8
Synonyms 4930539L19Rik, C430011H06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1406 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 98032518-98063476 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 98034304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 84 (G84C)
Ref Sequence ENSEMBL: ENSMUSP00000115813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051226] [ENSMUST00000059112] [ENSMUST00000123626] [ENSMUST00000123922] [ENSMUST00000143400] [ENSMUST00000163507] [ENSMUST00000230445]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000051226
SMART Domains Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065

DomainStartEndE-ValueType
Pfam:PFK 17 324 1.3e-111 PFAM
Pfam:PFK 402 687 1e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000059112
AA Change: G84C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057864
Gene: ENSMUSG00000048175
AA Change: G84C

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 probably damaging
Transcript: ENSMUST00000123626
AA Change: G84C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121383
Gene: ENSMUSG00000048175
AA Change: G84C

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 probably damaging
Transcript: ENSMUST00000123922
AA Change: G84C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119481
Gene: ENSMUSG00000048175
AA Change: G84C

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 probably damaging
Transcript: ENSMUST00000143400
AA Change: G84C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115813
Gene: ENSMUSG00000048175
AA Change: G84C

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 probably benign
Transcript: ENSMUST00000163507
SMART Domains Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065

DomainStartEndE-ValueType
Pfam:PFK 16 326 2.9e-138 PFAM
Pfam:PFK 401 688 1.8e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230445
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.2%
  • 10x: 92.2%
  • 20x: 76.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T C 14: 78,750,189 (GRCm39) T733A probably benign Het
Antxrl A G 14: 33,794,999 (GRCm39) N476D possibly damaging Het
Armc8 G T 9: 99,405,301 (GRCm39) P268Q probably benign Het
BC035044 A T 6: 128,862,047 (GRCm39) probably null Het
Caprin1 A G 2: 103,606,332 (GRCm39) F303L probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Ctdspl2 G A 2: 121,837,349 (GRCm39) R371Q probably damaging Het
Dctn4 T A 18: 60,689,402 (GRCm39) D431E probably benign Het
Dhx40 T C 11: 86,688,571 (GRCm39) E284G probably benign Het
Dhx9 A G 1: 153,340,684 (GRCm39) V652A probably damaging Het
Fnip2 G T 3: 79,415,398 (GRCm39) N213K possibly damaging Het
Gm17535 A G 9: 3,035,804 (GRCm39) Y224C probably null Het
Itch A G 2: 155,048,274 (GRCm39) E546G possibly damaging Het
Map3k20 A T 2: 72,219,838 (GRCm39) I257F probably damaging Het
Mdc1 C T 17: 36,164,424 (GRCm39) T1324I probably benign Het
Mertk T C 2: 128,613,406 (GRCm39) I474T probably benign Het
Nav3 A G 10: 109,719,495 (GRCm39) V156A possibly damaging Het
Nbea A G 3: 55,944,702 (GRCm39) V554A probably benign Het
Or10z1 T A 1: 174,078,427 (GRCm39) E22V possibly damaging Het
Or13c7c C T 4: 43,835,582 (GRCm39) V303M possibly damaging Het
Or4f57 A G 2: 111,790,926 (GRCm39) V164A probably benign Het
Pask A G 1: 93,249,373 (GRCm39) Y676H probably benign Het
Pcare T C 17: 72,056,156 (GRCm39) N1174D probably benign Het
Rab32 A G 10: 10,426,637 (GRCm39) V103A probably damaging Het
Rp1 T C 1: 4,422,144 (GRCm39) E262G possibly damaging Het
Rtn4 A G 11: 29,658,236 (GRCm39) T797A probably benign Het
Sall1 A T 8: 89,759,072 (GRCm39) I344K probably benign Het
Scnn1b T C 7: 121,501,767 (GRCm39) probably null Het
Slc7a2 G T 8: 41,358,622 (GRCm39) G322W probably damaging Het
Snx29 A G 16: 11,217,657 (GRCm39) M153V probably benign Het
Sp110 T G 1: 85,506,800 (GRCm39) E421A probably benign Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Ush1c A C 7: 45,874,965 (GRCm39) probably null Het
Vmn2r8 C T 5: 108,950,234 (GRCm39) M204I probably benign Het
Zfp839 C T 12: 110,832,744 (GRCm39) T554M probably damaging Het
Other mutations in Asb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Asb8 APN 15 98,039,159 (GRCm39) splice site probably benign
IGL01367:Asb8 APN 15 98,034,054 (GRCm39) missense probably damaging 1.00
IGL01375:Asb8 APN 15 98,039,190 (GRCm39) missense probably damaging 0.98
IGL03007:Asb8 APN 15 98,040,615 (GRCm39) missense probably damaging 0.99
IGL03192:Asb8 APN 15 98,033,776 (GRCm39) missense possibly damaging 0.87
R0025:Asb8 UTSW 15 98,040,552 (GRCm39) missense possibly damaging 0.84
R1405:Asb8 UTSW 15 98,039,248 (GRCm39) missense possibly damaging 0.85
R1405:Asb8 UTSW 15 98,039,248 (GRCm39) missense possibly damaging 0.85
R1406:Asb8 UTSW 15 98,034,304 (GRCm39) missense probably damaging 1.00
R1570:Asb8 UTSW 15 98,034,309 (GRCm39) missense probably damaging 0.99
R1958:Asb8 UTSW 15 98,034,097 (GRCm39) missense possibly damaging 0.88
R2049:Asb8 UTSW 15 98,033,950 (GRCm39) nonsense probably null
R2060:Asb8 UTSW 15 98,039,254 (GRCm39) missense possibly damaging 0.93
R4448:Asb8 UTSW 15 98,039,211 (GRCm39) missense possibly damaging 0.92
R5835:Asb8 UTSW 15 98,034,263 (GRCm39) missense probably damaging 0.98
R6092:Asb8 UTSW 15 98,034,123 (GRCm39) missense possibly damaging 0.94
R6718:Asb8 UTSW 15 98,034,015 (GRCm39) missense probably benign 0.03
R7052:Asb8 UTSW 15 98,034,282 (GRCm39) missense probably damaging 0.98
R7901:Asb8 UTSW 15 98,040,614 (GRCm39) missense probably damaging 1.00
R8690:Asb8 UTSW 15 98,034,108 (GRCm39) missense probably damaging 1.00
R9189:Asb8 UTSW 15 98,040,635 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- TGTAATCCAGGGCATTGACGGAGG -3'
(R):5'- CTCAGCAGTAGTGCAGACTTGGAC -3'

Sequencing Primer
(F):5'- GCATTGTTCTTAAAGGCTGCCC -3'
(R):5'- AGTGCAGACTTGGACTTCATC -3'
Posted On 2014-03-14