Incidental Mutation 'IGL02188:Asb18'
ID283755
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 #IGL02188
Quality Score
Status
Chromosome1
Chromosomal Location89950220-90014666 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89996299 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 81 (C81R)
Ref Sequence ENSEMBL: ENSMUSP00000084095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086882] [ENSMUST00000097656] [ENSMUST00000151330] [ENSMUST00000154228]
Predicted Effect probably benign
Transcript: ENSMUST00000086882
AA Change: C81R

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000084095
Gene: ENSMUSG00000067081
AA Change: C81R

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 35,936,077 N56S probably benign Het
Ccl25 A C 8: 4,348,552 probably benign Het
Cdh13 A G 8: 118,851,761 T176A probably benign Het
Cnrip1 A G 11: 17,078,398 probably null Het
Dnmt1 A T 9: 20,941,738 C62* probably null Het
Eepd1 T C 9: 25,581,892 F311L probably benign Het
Elmsan1 T C 12: 84,162,326 I667M probably benign Het
Extl3 A G 14: 65,075,705 L676P probably damaging Het
F13a1 A G 13: 36,906,061 probably benign Het
Galnt12 C T 4: 47,122,521 R267W probably damaging Het
Gm12394 T A 4: 42,791,994 probably null Het
Gm5150 T A 3: 15,963,662 K148N possibly damaging Het
Haus8 G T 8: 71,257,415 A51E probably damaging Het
Hyal5 T C 6: 24,877,036 Y303H probably damaging Het
Itga5 C T 15: 103,347,717 R936H probably benign Het
Itgb4 A G 11: 116,003,387 N1282S probably benign Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Matn4 C T 2: 164,400,866 R104H probably benign Het
Myg1 T C 15: 102,337,441 I238T probably benign Het
Myo7a C T 7: 98,091,027 A598T probably damaging Het
Nbea T A 3: 55,983,837 I1604L probably benign Het
Nfx1 G A 4: 40,993,827 G547R probably damaging Het
Olfr1467 A T 19: 13,365,032 M135L probably benign Het
Olfr1467 A T 19: 13,365,279 Y217F probably damaging Het
Pelp1 T A 11: 70,409,892 I41F unknown Het
Pla2g2f T C 4: 138,752,207 probably benign Het
Rab19 T A 6: 39,384,034 S39T probably benign Het
Samd8 T C 14: 21,783,798 probably null Het
Sec16a T C 2: 26,436,008 D1219G probably damaging Het
Slc2a4 C T 11: 69,946,330 M1I probably null Het
Slc44a1 T C 4: 53,541,361 V273A probably benign Het
Svep1 T C 4: 58,068,382 T3135A possibly damaging Het
Tnnc1 T C 14: 31,210,660 L100P possibly damaging Het
Ubr3 C T 2: 69,959,611 R870* probably null Het
Usp28 T C 9: 49,024,009 S87P probably benign Het
Xylt1 T A 7: 117,634,737 V497E probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null 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
IGL02378:Asb18 APN 1 89992988 missense probably damaging 1.00
IGL02543:Asb18 APN 1 90014391 missense probably damaging 0.99
IGL02828:Asb18 APN 1 89996210 critical splice donor site probably null
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
R7474:Asb18 UTSW 1 89993033 missense possibly damaging 0.91
R7751:Asb18 UTSW 1 89968484 missense probably benign 0.09
Posted On2015-04-16