Incidental Mutation 'IGL01748:Asb1'
ID153067
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: 0.184) question?
Stock #IGL01748
Quality Score
Status
Chromosome1
Chromosomal Location91540544-91559589 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 91552286 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 236 (V236I)
Ref Sequence ENSEMBL: ENSMUSP00000140165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027538] [ENSMUST00000086843] [ENSMUST00000186068] [ENSMUST00000188081] [ENSMUST00000188879] [ENSMUST00000190484]
Predicted Effect probably damaging
Transcript: ENSMUST00000027538
AA Change: V4I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027538
Gene: ENSMUSG00000026311
AA Change: V4I

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 damaging
Transcript: ENSMUST00000086843
AA Change: V244I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084054
Gene: ENSMUSG00000026311
AA Change: V244I

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: 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 damaging
Transcript: ENSMUST00000188081
AA Change: V236I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140165
Gene: ENSMUSG00000026311
AA Change: V236I

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 damaging
Transcript: ENSMUST00000188879
AA Change: V236I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140731
Gene: ENSMUSG00000026311
AA Change: V236I

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 damaging
Transcript: ENSMUST00000190484
AA Change: V143I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140281
Gene: ENSMUSG00000026311
AA Change: V143I

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,548,357 probably benign Het
Bod1l G A 5: 41,816,961 R2337C probably benign Het
Fermt3 A T 19: 7,003,466 probably null Het
Foxred2 T C 15: 77,952,346 D323G probably damaging Het
Fry A G 5: 150,345,651 probably benign Het
Galnt11 T A 5: 25,247,515 Y8* probably null Het
Gm42688 T A 6: 83,103,020 S275T possibly damaging Het
Grip2 C T 6: 91,764,743 G934R probably damaging Het
Igkv1-122 G T 6: 68,017,472 V115F possibly damaging Het
Iglon5 C T 7: 43,476,529 probably benign Het
Nbl1 G T 4: 139,083,610 probably benign Het
Nup107 A G 10: 117,757,274 V833A probably benign Het
Olfr1287 T C 2: 111,449,530 L130P probably damaging Het
Psg18 T C 7: 18,353,551 N61D probably benign Het
Rfng A G 11: 120,783,743 M104T probably benign Het
Scn10a A G 9: 119,627,084 F1224S probably damaging Het
Strn4 C T 7: 16,838,302 P647S probably damaging Het
Tbc1d2 A G 4: 46,616,306 V474A probably damaging Het
Trav13n-4 A T 14: 53,364,013 T80S probably benign Het
Trrap A G 5: 144,833,340 E2757G probably damaging Het
Vmn1r43 G T 6: 89,870,312 T64N probably damaging Het
Vmn2r108 A T 17: 20,463,214 I576N probably benign Het
Vmn2r65 A T 7: 84,940,299 I803N probably damaging Het
Zfp341 T C 2: 154,628,927 V288A probably damaging Het
Other mutations in Asb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Asb1 APN 1 91552124 missense probably damaging 0.99
IGL02670:Asb1 APN 1 91546918 intron probably benign
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 On2014-02-04