Incidental Mutation 'IGL02670:Asb1'
ID 302906
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asb1
Ensembl Gene ENSMUSG00000026311
Gene Name ankyrin repeat and SOCS box-containing 1
Synonyms 1700029O08Rik, 1700054C17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL02670
Quality Score
Status
Chromosome 1
Chromosomal Location 91468266-91487311 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 91474640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027538] [ENSMUST00000086843] [ENSMUST00000186068] [ENSMUST00000188081] [ENSMUST00000188879] [ENSMUST00000190484]
AlphaFold Q9WV74
Predicted Effect probably benign
Transcript: ENSMUST00000027538
SMART Domains Protein: ENSMUSP00000027538
Gene: ENSMUSG00000026311

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
ANK 37 69 2.43e1 SMART
ANK 78 107 7.48e0 SMART
ANK 111 140 3.01e-4 SMART
ANK 144 173 9.78e-4 SMART
ANK 196 221 2.25e2 SMART
Blast:ANK 235 266 2e-11 BLAST
SOCS_box 297 336 6.36e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086843
SMART Domains Protein: ENSMUSP00000084054
Gene: ENSMUSG00000026311

DomainStartEndE-ValueType
ANK 29 61 2.43e1 SMART
ANK 70 99 7.48e0 SMART
ANK 103 132 3.01e-4 SMART
ANK 136 165 9.78e-4 SMART
ANK 188 213 2.25e2 SMART
Blast:ANK 227 258 2e-11 BLAST
SOCS_box 289 328 6.36e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185718
Predicted Effect probably benign
Transcript: ENSMUST00000186068
SMART Domains Protein: ENSMUSP00000140225
Gene: ENSMUSG00000026311

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Blast:ANK 37 70 1e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000188081
SMART Domains Protein: ENSMUSP00000140165
Gene: ENSMUSG00000026311

DomainStartEndE-ValueType
ANK 29 61 1.5e-1 SMART
ANK 70 99 4.7e-2 SMART
ANK 103 132 1.9e-6 SMART
ANK 136 165 6.3e-6 SMART
ANK 188 213 1.4e0 SMART
Blast:ANK 227 258 1e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000188879
SMART Domains Protein: ENSMUSP00000140731
Gene: ENSMUSG00000026311

DomainStartEndE-ValueType
ANK 29 61 2.43e1 SMART
ANK 70 99 7.48e0 SMART
ANK 103 132 3.01e-4 SMART
ANK 136 165 9.78e-4 SMART
ANK 188 213 2.25e2 SMART
Blast:ANK 227 258 2e-11 BLAST
SOCS_box 289 328 6.36e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190484
SMART Domains Protein: ENSMUSP00000140281
Gene: ENSMUSG00000026311

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
ANK 37 72 1.17e2 SMART
ANK 95 120 2.25e2 SMART
Blast:ANK 134 165 3e-12 BLAST
Pfam:SOCS_box 196 218 2.2e-6 PFAM
Coding Region Coverage
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 contains an ankyrin repeat sequence and 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, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutation of this gene results in spleen hypocellularity, decreased spermatogenesis, and thickening of the skin in male animals. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bltp1 C T 3: 37,021,454 (GRCm39) Q2193* probably null Het
Cnot6 G A 11: 49,575,941 (GRCm39) Q178* probably null Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Cyp27b1 T C 10: 126,886,227 (GRCm39) S303P probably benign Het
Dnah5 T C 15: 28,409,442 (GRCm39) L3620P probably damaging Het
Dock7 A T 4: 98,854,523 (GRCm39) probably null Het
Fam161b T C 12: 84,404,368 (GRCm39) D104G probably benign Het
Fam8a1 A G 13: 46,827,080 (GRCm39) M284V possibly damaging Het
Fkbp3 T A 12: 65,115,877 (GRCm39) K65* probably null Het
Gatb A G 3: 85,520,858 (GRCm39) probably null Het
Gm572 A T 4: 148,735,685 (GRCm39) H38L probably benign Het
Gm6576 A C 15: 27,025,598 (GRCm39) noncoding transcript Het
L2hgdh G A 12: 69,739,254 (GRCm39) R406W possibly damaging Het
Lmo7 A T 14: 102,118,416 (GRCm39) T214S probably damaging Het
Map3k12 T C 15: 102,411,981 (GRCm39) H361R probably benign Het
Mios T C 6: 8,235,378 (GRCm39) probably benign Het
Mta1 T C 12: 113,093,741 (GRCm39) L315P probably damaging Het
Pask A C 1: 93,238,540 (GRCm39) V1315G probably damaging Het
Pias4 A T 10: 80,999,904 (GRCm39) C50S probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Sgk1 T A 10: 21,804,445 (GRCm39) C92S probably benign Het
Slc2a13 C T 15: 91,381,712 (GRCm39) G259E probably damaging Het
Slc5a4b A G 10: 75,910,934 (GRCm39) C301R probably damaging Het
Sstr4 G T 2: 148,238,453 (GRCm39) G355* probably null Het
Tnrc6a T A 7: 122,770,535 (GRCm39) L775Q possibly damaging Het
Vmn1r218 A G 13: 23,321,174 (GRCm39) I94V probably benign Het
Xpa A G 4: 46,185,682 (GRCm39) F99L probably benign Het
Other mutations in Asb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Asb1 APN 1 91,479,846 (GRCm39) missense probably damaging 0.99
IGL01748:Asb1 APN 1 91,480,008 (GRCm39) missense probably damaging 1.00
R1897:Asb1 UTSW 1 91,474,647 (GRCm39) splice site probably null
R2113:Asb1 UTSW 1 91,471,950 (GRCm39) missense probably damaging 1.00
R4803:Asb1 UTSW 1 91,480,051 (GRCm39) missense probably damaging 1.00
R5086:Asb1 UTSW 1 91,482,533 (GRCm39) missense probably benign 0.00
R5103:Asb1 UTSW 1 91,480,066 (GRCm39) missense possibly damaging 0.87
R5301:Asb1 UTSW 1 91,482,475 (GRCm39) missense probably damaging 0.97
R6039:Asb1 UTSW 1 91,474,748 (GRCm39) missense probably damaging 1.00
R6039:Asb1 UTSW 1 91,474,748 (GRCm39) missense probably damaging 1.00
R8552:Asb1 UTSW 1 91,480,078 (GRCm39) missense probably damaging 1.00
R9009:Asb1 UTSW 1 91,480,206 (GRCm39) makesense probably null
R9009:Asb1 UTSW 1 91,480,205 (GRCm39) missense unknown
R9013:Asb1 UTSW 1 91,480,163 (GRCm39) critical splice donor site probably null
R9213:Asb1 UTSW 1 91,482,531 (GRCm39) missense probably damaging 1.00
R9253:Asb1 UTSW 1 91,468,551 (GRCm39) missense unknown
R9286:Asb1 UTSW 1 91,480,150 (GRCm39) missense probably benign 0.00
R9643:Asb1 UTSW 1 91,480,116 (GRCm39) missense probably benign
R9689:Asb1 UTSW 1 91,474,708 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16