Incidental Mutation 'IGL01285:Asb18'
ID 72709
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asb18
Ensembl Gene ENSMUSG00000067081
Gene Name ankyrin repeat and SOCS box-containing 18
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01285
Quality Score
Status
Chromosome 1
Chromosomal Location 89880313-89942388 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89923963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 100 (V100A)
Ref Sequence ENSEMBL: ENSMUSP00000084095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086882] [ENSMUST00000097656] [ENSMUST00000151330] [ENSMUST00000154228]
AlphaFold Q8VHA6
Predicted Effect probably benign
Transcript: ENSMUST00000086882
AA Change: V100A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000084095
Gene: ENSMUSG00000067081
AA Change: V100A

DomainStartEndE-ValueType
Blast:ANK 15 44 3e-8 BLAST
ANK 119 148 5.32e-5 SMART
ANK 151 180 1.99e-4 SMART
ANK 184 213 3.26e2 SMART
ANK 218 247 3.95e1 SMART
ANK 251 289 1.96e3 SMART
ANK 293 322 6.61e-1 SMART
Blast:ANK 329 365 1e-12 BLAST
SOCS_box 422 461 4.5e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097656
SMART Domains Protein: ENSMUSP00000095261
Gene: ENSMUSG00000067081

DomainStartEndE-ValueType
Blast:ANK 15 44 1e-8 BLAST
SOCS_box 158 197 4.5e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151330
SMART Domains Protein: ENSMUSP00000117836
Gene: ENSMUSG00000067081

DomainStartEndE-ValueType
Blast:ANK 15 44 1e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000154228
SMART Domains Protein: ENSMUSP00000117767
Gene: ENSMUSG00000067081

DomainStartEndE-ValueType
Blast:ANK 15 44 9e-9 BLAST
ANK 78 107 5.32e-5 SMART
ANK 110 139 1.99e-4 SMART
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 is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a 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, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,271,610 (GRCm39) N599S probably benign Het
Adam6a A T 12: 113,509,893 (GRCm39) *755Y probably null Het
Adgrb3 G T 1: 25,132,868 (GRCm39) T1166K probably benign Het
Ano1 T C 7: 144,198,479 (GRCm39) Y345C probably benign Het
Ano1 A G 7: 144,149,275 (GRCm39) V862A probably damaging Het
Asap2 C T 12: 21,279,264 (GRCm39) A382V probably damaging Het
Bdnf G A 2: 109,553,931 (GRCm39) A102T probably benign Het
Ccser2 G A 14: 36,660,626 (GRCm39) T509M probably damaging Het
Cfap47 A G X: 78,532,764 (GRCm39) I767T possibly damaging Het
Des G A 1: 75,339,227 (GRCm39) A251T probably benign Het
Dmd C T X: 84,153,590 (GRCm39) Q3224* probably null Het
Endog G T 2: 30,061,975 (GRCm39) probably null Het
Ggt7 A G 2: 155,342,691 (GRCm39) V269A probably damaging Het
Gucy2c A G 6: 136,686,739 (GRCm39) F808S probably damaging Het
Hira A G 16: 18,730,930 (GRCm39) T210A probably benign Het
Ifitm5 C A 7: 140,530,076 (GRCm39) R16L probably benign Het
Igdcc4 T C 9: 65,031,273 (GRCm39) C404R probably damaging Het
Ints7 G A 1: 191,347,890 (GRCm39) R754H probably benign Het
Irf9 A G 14: 55,845,058 (GRCm39) E258G probably damaging Het
Megf11 T C 9: 64,567,728 (GRCm39) C406R probably damaging Het
Olfml1 A G 7: 107,189,364 (GRCm39) N143S possibly damaging Het
Or4m1 A G 14: 50,557,713 (GRCm39) F193S possibly damaging Het
Or6c66b T A 10: 129,376,711 (GRCm39) F102I probably benign Het
Or7g30 A G 9: 19,352,266 (GRCm39) D19G probably benign Het
Otof G T 5: 30,562,527 (GRCm39) Q254K probably damaging Het
Pate7 A T 9: 35,688,044 (GRCm39) N65K possibly damaging Het
Plcd3 A G 11: 102,968,696 (GRCm39) F332L probably benign Het
Plxnc1 T C 10: 94,635,230 (GRCm39) D1332G probably damaging Het
Rnasel A T 1: 153,634,130 (GRCm39) D521V probably benign Het
Sema5a T A 15: 32,575,143 (GRCm39) V417D possibly damaging Het
Senp6 G A 9: 80,044,000 (GRCm39) R877Q probably benign Het
Shroom2 A T X: 151,442,353 (GRCm39) D937E probably damaging Het
Slc35a3 A G 3: 116,488,262 (GRCm39) S142P probably damaging Het
Srpx A T X: 9,905,298 (GRCm39) V398E probably damaging Het
Stk10 A T 11: 32,560,653 (GRCm39) K669N possibly damaging Het
Sumf2 A G 5: 129,878,811 (GRCm39) D49G probably damaging Het
Syde1 T A 10: 78,424,721 (GRCm39) E370D probably damaging Het
Tas2r115 G T 6: 132,714,641 (GRCm39) S103R probably damaging Het
Top2a G A 11: 98,896,985 (GRCm39) probably benign Het
Ttn T A 2: 76,550,842 (GRCm39) T23190S probably damaging Het
Ttyh3 C A 5: 140,615,167 (GRCm39) C407F probably damaging Het
Vmn2r27 G T 6: 124,169,370 (GRCm39) H587N possibly damaging Het
Vmn2r74 A G 7: 85,606,692 (GRCm39) I218T possibly damaging Het
Vsig10 A G 5: 117,462,954 (GRCm39) N60S probably benign Het
Zc3h7a A G 16: 10,956,979 (GRCm39) S877P probably damaging Het
Zfp979 G T 4: 147,699,853 (GRCm39) T29N probably damaging Het
Znfx1 G A 2: 166,880,615 (GRCm39) R390C possibly damaging Het
Other mutations in Asb18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01559:Asb18 APN 1 89,882,172 (GRCm39) missense probably damaging 1.00
IGL02188:Asb18 APN 1 89,924,021 (GRCm39) missense probably benign 0.08
IGL02378:Asb18 APN 1 89,920,710 (GRCm39) missense probably damaging 1.00
IGL02543:Asb18 APN 1 89,942,113 (GRCm39) missense probably damaging 0.99
IGL02828:Asb18 APN 1 89,923,932 (GRCm39) critical splice donor site probably null
IGL02877:Asb18 APN 1 89,880,533 (GRCm39) missense possibly damaging 0.65
IGL03290:Asb18 APN 1 89,942,296 (GRCm39) missense probably damaging 1.00
R0560:Asb18 UTSW 1 89,942,250 (GRCm39) missense probably damaging 1.00
R0671:Asb18 UTSW 1 89,920,893 (GRCm39) missense probably damaging 1.00
R1468:Asb18 UTSW 1 89,924,005 (GRCm39) missense probably damaging 1.00
R1468:Asb18 UTSW 1 89,924,005 (GRCm39) missense probably damaging 1.00
R1510:Asb18 UTSW 1 89,923,976 (GRCm39) missense possibly damaging 0.62
R1721:Asb18 UTSW 1 89,896,302 (GRCm39) missense probably benign 0.36
R1793:Asb18 UTSW 1 89,942,277 (GRCm39) missense probably damaging 1.00
R1863:Asb18 UTSW 1 89,942,104 (GRCm39) missense probably benign 0.10
R2171:Asb18 UTSW 1 89,896,419 (GRCm39) missense probably benign 0.01
R2348:Asb18 UTSW 1 89,942,256 (GRCm39) missense probably damaging 0.99
R3052:Asb18 UTSW 1 89,920,707 (GRCm39) missense probably damaging 1.00
R3053:Asb18 UTSW 1 89,920,707 (GRCm39) missense probably damaging 1.00
R3427:Asb18 UTSW 1 89,896,315 (GRCm39) missense probably damaging 0.99
R4094:Asb18 UTSW 1 89,942,147 (GRCm39) missense probably damaging 1.00
R4105:Asb18 UTSW 1 89,896,243 (GRCm39) missense possibly damaging 0.61
R4405:Asb18 UTSW 1 89,896,411 (GRCm39) missense probably benign 0.00
R4815:Asb18 UTSW 1 89,942,147 (GRCm39) missense probably damaging 1.00
R4992:Asb18 UTSW 1 89,880,585 (GRCm39) missense probably benign 0.03
R5287:Asb18 UTSW 1 89,942,110 (GRCm39) missense probably benign 0.01
R5403:Asb18 UTSW 1 89,942,110 (GRCm39) missense probably benign 0.01
R5494:Asb18 UTSW 1 89,882,121 (GRCm39) missense probably damaging 1.00
R5504:Asb18 UTSW 1 89,920,746 (GRCm39) missense probably damaging 1.00
R5617:Asb18 UTSW 1 89,882,184 (GRCm39) missense possibly damaging 0.90
R5826:Asb18 UTSW 1 89,942,260 (GRCm39) missense probably damaging 0.97
R6369:Asb18 UTSW 1 89,942,193 (GRCm39) missense probably damaging 0.99
R7474:Asb18 UTSW 1 89,920,755 (GRCm39) missense possibly damaging 0.91
R7751:Asb18 UTSW 1 89,896,206 (GRCm39) missense probably benign 0.09
R8707:Asb18 UTSW 1 89,920,857 (GRCm39) missense probably damaging 1.00
R9212:Asb18 UTSW 1 89,880,447 (GRCm39) missense probably benign 0.00
R9253:Asb18 UTSW 1 89,882,185 (GRCm39) missense probably benign 0.04
Posted On 2013-10-07