Incidental Mutation 'IGL02828:Asb18'
ID361327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asb18
Ensembl Gene ENSMUSG00000067081
Gene Nameankyrin repeat and SOCS box-containing 18
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02828
Quality Score
Status
Chromosome1
Chromosomal Location89950220-90014666 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 89996210 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000084095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086882] [ENSMUST00000097656] [ENSMUST00000151330] [ENSMUST00000154228]
Predicted Effect probably null
Transcript: ENSMUST00000086882
SMART Domains Protein: ENSMUSP00000084095
Gene: ENSMUSG00000067081

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik C A 18: 12,189,221 A577D possibly damaging Het
Abca8b G A 11: 109,980,894 T86I probably damaging Het
Adam28 C T 14: 68,646,870 S93N possibly damaging Het
Adamts6 T C 13: 104,297,470 Y136H probably damaging Het
Ahdc1 A T 4: 133,062,921 K491I possibly damaging Het
AI314180 A G 4: 58,875,512 S151P possibly damaging Het
Alb C A 5: 90,467,388 A253E probably benign Het
Asxl3 T A 18: 22,524,661 N1909K possibly damaging Het
Atp12a T A 14: 56,376,142 V457D possibly damaging Het
Atxn7 G T 14: 14,090,056 G334W probably damaging Het
Catsperb T A 12: 101,480,782 I223K probably benign Het
Clec2h T A 6: 128,675,922 H217Q probably benign Het
Col6a3 T C 1: 90,796,559 E1416G probably damaging Het
Dcaf1 T A 9: 106,844,302 probably benign Het
Ddr2 C T 1: 169,988,513 A542T probably benign Het
Ebf3 T C 7: 137,307,518 N174S probably damaging Het
Ephb2 A G 4: 136,771,150 I206T probably benign Het
Fam214a G T 9: 75,006,432 A123S probably damaging Het
Fbxo39 T A 11: 72,317,215 I131N possibly damaging Het
Fdxacb1 G A 9: 50,771,564 V276I possibly damaging Het
Gm13023 A T 4: 143,795,125 D437V possibly damaging Het
Gpr146 A T 5: 139,392,821 Y126F probably damaging Het
Hivep3 A T 4: 120,097,732 K1082* probably null Het
Ifnar1 T A 16: 91,505,416 probably null Het
Kap A G 6: 133,852,094 V25A probably benign Het
Klhl2 C A 8: 64,779,757 R162L probably damaging Het
Kmt2a A G 9: 44,821,947 probably benign Het
Lrp4 A G 2: 91,475,294 N303S probably benign Het
Mtpap A T 18: 4,386,207 N276Y probably damaging Het
Nlrp5 G A 7: 23,421,460 G684S possibly damaging Het
Olfr1513 T C 14: 52,349,342 R235G probably benign Het
Olfr294 A T 7: 86,616,069 V192E possibly damaging Het
Pak2 A T 16: 32,021,856 L469H probably damaging Het
Pcdhb15 T A 18: 37,473,850 L45Q probably damaging Het
Pi4ka A T 16: 17,280,711 probably benign Het
Picalm A G 7: 90,177,501 T386A probably benign Het
Pkd1l2 T C 8: 117,029,559 T1645A probably benign Het
Plekhm2 A T 4: 141,629,630 V754E probably damaging Het
Rbl1 T A 2: 157,199,464 E81V probably damaging Het
Rbp4 C A 19: 38,118,269 probably null Het
Rdh12 T C 12: 79,218,685 V211A probably damaging Het
Ret G A 6: 118,176,207 A500V probably benign Het
Rin1 T C 19: 5,053,090 F469S possibly damaging Het
Rsc1a1 G T 4: 141,684,168 P478T probably damaging Het
Setd2 A T 9: 110,561,214 Y1579F probably benign Het
Sh3bp5 A T 14: 31,434,149 probably benign Het
Slc22a13 G T 9: 119,195,707 L235I probably benign Het
Slc6a11 A T 6: 114,134,987 T172S possibly damaging Het
Slitrk1 G T 14: 108,911,616 S554R possibly damaging Het
Tg G A 15: 66,682,394 G553S probably damaging Het
Tmem26 G A 10: 68,775,385 probably null Het
Trpm2 A T 10: 77,918,986 L1222Q probably benign Het
Vdac2 T C 14: 21,843,889 V249A probably benign Het
Vmn1r170 T C 7: 23,606,518 V115A probably damaging Het
Vmn2r105 A G 17: 20,209,083 V577A possibly damaging Het
Xpo1 A G 11: 23,282,593 E371G probably damaging Het
Zfp106 A C 2: 120,531,697 H980Q possibly damaging Het
Other mutations in Asb18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Asb18 APN 1 89996241 missense probably benign 0.02
IGL01559:Asb18 APN 1 89954450 missense probably damaging 1.00
IGL02188:Asb18 APN 1 89996299 missense probably benign 0.08
IGL02378:Asb18 APN 1 89992988 missense probably damaging 1.00
IGL02543:Asb18 APN 1 90014391 missense probably damaging 0.99
IGL02877:Asb18 APN 1 89952811 missense possibly damaging 0.65
IGL03290:Asb18 APN 1 90014574 missense probably damaging 1.00
R0560:Asb18 UTSW 1 90014528 missense probably damaging 1.00
R0671:Asb18 UTSW 1 89993171 missense probably damaging 1.00
R1468:Asb18 UTSW 1 89996283 missense probably damaging 1.00
R1468:Asb18 UTSW 1 89996283 missense probably damaging 1.00
R1510:Asb18 UTSW 1 89996254 missense possibly damaging 0.62
R1721:Asb18 UTSW 1 89968580 missense probably benign 0.36
R1793:Asb18 UTSW 1 90014555 missense probably damaging 1.00
R1863:Asb18 UTSW 1 90014382 missense probably benign 0.10
R2171:Asb18 UTSW 1 89968697 missense probably benign 0.01
R2348:Asb18 UTSW 1 90014534 missense probably damaging 0.99
R3052:Asb18 UTSW 1 89992985 missense probably damaging 1.00
R3053:Asb18 UTSW 1 89992985 missense probably damaging 1.00
R3427:Asb18 UTSW 1 89968593 missense probably damaging 0.99
R4094:Asb18 UTSW 1 90014425 missense probably damaging 1.00
R4105:Asb18 UTSW 1 89968521 missense possibly damaging 0.61
R4405:Asb18 UTSW 1 89968689 missense probably benign 0.00
R4815:Asb18 UTSW 1 90014425 missense probably damaging 1.00
R4992:Asb18 UTSW 1 89952863 missense probably benign 0.03
R5287:Asb18 UTSW 1 90014388 missense probably benign 0.01
R5403:Asb18 UTSW 1 90014388 missense probably benign 0.01
R5494:Asb18 UTSW 1 89954399 missense probably damaging 1.00
R5504:Asb18 UTSW 1 89993024 missense probably damaging 1.00
R5617:Asb18 UTSW 1 89954462 missense possibly damaging 0.90
R5826:Asb18 UTSW 1 90014538 missense probably damaging 0.97
R6369:Asb18 UTSW 1 90014471 missense probably damaging 0.99
Posted On2015-12-18