Incidental Mutation 'IGL01375:Asb8'
ID78684
Institutional Source Australian Phenomics Network (link to record)
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 #IGL01375
Quality Score
Status
Chromosome15
Chromosomal Location98134637-98165625 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98141309 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 70 (E70G)
Ref Sequence ENSEMBL: ENSMUSP00000115813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059112] [ENSMUST00000123626] [ENSMUST00000123922] [ENSMUST00000143400]
Predicted Effect probably damaging
Transcript: ENSMUST00000059112
AA Change: E70G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000057864
Gene: ENSMUSG00000048175
AA Change: E70G

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: E70G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121383
Gene: ENSMUSG00000048175
AA Change: E70G

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: E70G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119481
Gene: ENSMUSG00000048175
AA Change: E70G

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: E70G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115813
Gene: ENSMUSG00000048175
AA Change: E70G

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik A G 13: 98,984,142 probably benign Het
Anxa2 C T 9: 69,483,019 R68* probably null Het
Apc C T 18: 34,313,654 S1167L probably damaging Het
Aqp2 A G 15: 99,582,102 T149A possibly damaging Het
Carmil1 T C 13: 24,094,471 I172V possibly damaging Het
Cd38 A G 5: 43,903,597 M172V probably benign Het
Dyrk2 A G 10: 118,860,687 V222A probably damaging Het
Ephb6 T A 6: 41,615,911 probably benign Het
Fam208a A G 14: 27,440,163 R159G probably damaging Het
Fbxo15 T C 18: 84,958,279 S48P possibly damaging Het
Gsdma3 T C 11: 98,629,941 probably null Het
Htr1d A G 4: 136,443,173 T238A probably benign Het
Kcnh3 G A 15: 99,226,993 W108* probably null Het
Kdsr A T 1: 106,727,694 Y272N probably benign Het
Lrp2 A G 2: 69,478,566 probably benign Het
Nup210l G A 3: 90,159,893 V747M probably damaging Het
Olfr1200 A G 2: 88,767,466 V283A probably benign Het
Olfr1512 A G 14: 52,372,408 I215T probably damaging Het
Pfn3 T A 13: 55,414,828 R113S possibly damaging Het
Pik3r4 T C 9: 105,644,604 I123T possibly damaging Het
Plec A T 15: 76,176,440 I3121N probably damaging Het
Prepl C T 17: 85,071,991 G336D possibly damaging Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Prps1l1 A G 12: 34,985,632 T249A possibly damaging Het
Rptor T A 11: 119,896,436 F1276I possibly damaging Het
Serpina3f G A 12: 104,220,476 V434I unknown Het
Slc25a12 T C 2: 71,308,050 probably benign Het
Slc4a4 T C 5: 89,179,734 C642R probably damaging Het
Slit2 C T 5: 48,281,714 probably benign Het
Tgfbr3 A G 5: 107,136,971 V604A probably benign Het
Tnfrsf1b T C 4: 145,225,416 Y126C probably damaging Het
Traf4 T C 11: 78,160,082 N416S probably benign Het
Trappc10 A G 10: 78,188,899 I1132T possibly damaging Het
Vps8 T A 16: 21,559,372 Y642* probably null Het
Wdr60 G T 12: 116,229,676 A552E 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
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
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
Posted On2013-11-05