Incidental Mutation 'IGL02670:Asb1'
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ID302906
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asb1
Ensembl Gene ENSMUSG00000026311
Gene Nameankyrin repeat and SOCS box-containing 1
Synonyms1700054C17Rik, 1700029O08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL02670
Quality Score
Status
Chromosome1
Chromosomal Location91540544-91559589 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 91546918 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027538] [ENSMUST00000086843] [ENSMUST00000186068] [ENSMUST00000188081] [ENSMUST00000188879] [ENSMUST00000190484]
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
4932438A13Rik C T 3: 36,967,305 Q2193* probably null Het
Cnot6 G A 11: 49,685,114 Q178* probably null Het
Col5a1 C T 2: 27,974,715 A737V unknown Het
Cyp27b1 T C 10: 127,050,358 S303P probably benign Het
Dnah5 T C 15: 28,409,296 L3620P probably damaging Het
Dock7 A T 4: 98,966,286 probably null Het
Fam161b T C 12: 84,357,594 D104G probably benign Het
Fam8a1 A G 13: 46,673,604 M284V possibly damaging Het
Fkbp3 T A 12: 65,069,103 K65* probably null Het
Gatb A G 3: 85,613,551 probably null Het
Gm572 A T 4: 148,651,228 H38L probably benign Het
Gm6576 A C 15: 27,025,512 noncoding transcript Het
L2hgdh G A 12: 69,692,480 R406W possibly damaging Het
Lmo7 A T 14: 101,880,980 T214S probably damaging Het
Map3k12 T C 15: 102,503,546 H361R probably benign Het
Mios T C 6: 8,235,378 probably benign Het
Mta1 T C 12: 113,130,121 L315P probably damaging Het
Pask A C 1: 93,310,818 V1315G probably damaging Het
Pias4 A T 10: 81,164,070 C50S probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Sgk1 T A 10: 21,928,546 C92S probably benign Het
Slc2a13 C T 15: 91,497,509 G259E probably damaging Het
Slc5a4b A G 10: 76,075,100 C301R probably damaging Het
Sstr4 G T 2: 148,396,533 G355* probably null Het
Tnrc6a T A 7: 123,171,312 L775Q possibly damaging Het
Vmn1r218 A G 13: 23,137,004 I94V probably benign Het
Xpa A G 4: 46,185,682 F99L probably benign Het
Other mutations in Asb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Asb1 APN 1 91552124 missense probably damaging 0.99
IGL01748:Asb1 APN 1 91552286 missense probably damaging 1.00
R1897:Asb1 UTSW 1 91546925 splice site probably null
R2113:Asb1 UTSW 1 91544228 missense probably damaging 1.00
R4803:Asb1 UTSW 1 91552329 missense probably damaging 1.00
R5086:Asb1 UTSW 1 91554811 missense probably benign 0.00
R5103:Asb1 UTSW 1 91552344 missense possibly damaging 0.87
R5301:Asb1 UTSW 1 91554753 missense probably damaging 0.97
R6039:Asb1 UTSW 1 91547026 missense probably damaging 1.00
R6039:Asb1 UTSW 1 91547026 missense probably damaging 1.00
Posted On2015-04-16