Incidental Mutation 'IGL02086:Asb4'
ID 285477
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asb4
Ensembl Gene ENSMUSG00000042607
Gene Name ankyrin repeat and SOCS box-containing 4
Synonyms 8430401O13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # IGL02086
Quality Score
Status
Chromosome 6
Chromosomal Location 5383386-5433022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5398386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 117 (I117T)
Ref Sequence ENSEMBL: ENSMUSP00000139245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043294] [ENSMUST00000183358]
AlphaFold Q9WV71
Predicted Effect probably benign
Transcript: ENSMUST00000043294
AA Change: I117T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040331
Gene: ENSMUSG00000042607
AA Change: I117T

DomainStartEndE-ValueType
ANK 74 103 6.26e-2 SMART
ANK 106 135 4.46e-7 SMART
ANK 139 168 4.86e1 SMART
ANK 174 203 2.43e1 SMART
ANK 207 247 1.17e2 SMART
ANK 251 280 8.86e-2 SMART
SOCS_box 381 420 7.48e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183358
AA Change: I117T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139245
Gene: ENSMUSG00000042607
AA Change: I117T

DomainStartEndE-ValueType
ANK 74 103 6.26e-2 SMART
ANK 106 135 4.46e-7 SMART
ANK 139 168 1.02e3 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 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. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes impaired placentation, embryonic growth arrest, reduced litter size, and pre-eclampsia like features including hypertension and albuminuria in late-stage pregnant females as well as renal defects including glomerular endotheliosis and mesangial expansion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Abi3bp A G 16: 56,462,930 (GRCm39) probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
C2cd2 A G 16: 97,691,208 (GRCm39) probably benign Het
Ccdc77 C A 6: 120,316,119 (GRCm39) C186F possibly damaging Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cd55b A T 1: 130,345,919 (GRCm39) D166E probably benign Het
Cfap100 A G 6: 90,390,954 (GRCm39) F8L probably damaging Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam184a A G 10: 53,575,351 (GRCm39) I30T probably damaging Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Klhdc1 A G 12: 69,329,958 (GRCm39) I362M probably benign Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Or56b2 A T 7: 104,337,634 (GRCm39) R137S probably benign Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Prkd1 T C 12: 50,434,046 (GRCm39) I566V probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Radil T C 5: 142,529,576 (GRCm39) D40G probably benign Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Slc31a1 A T 4: 62,306,241 (GRCm39) T120S possibly damaging Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vac14 T A 8: 111,379,950 (GRCm39) M416K possibly damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Zfp503 T C 14: 22,037,354 (GRCm39) K83R possibly damaging Het
Other mutations in Asb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03015:Asb4 APN 6 5,398,515 (GRCm39) missense possibly damaging 0.75
IGL03280:Asb4 APN 6 5,423,416 (GRCm39) missense probably benign
R1146:Asb4 UTSW 6 5,423,591 (GRCm39) missense probably damaging 0.99
R1146:Asb4 UTSW 6 5,423,591 (GRCm39) missense probably damaging 0.99
R1267:Asb4 UTSW 6 5,423,747 (GRCm39) missense probably damaging 1.00
R1435:Asb4 UTSW 6 5,398,410 (GRCm39) missense probably benign 0.33
R1595:Asb4 UTSW 6 5,390,692 (GRCm39) missense probably damaging 1.00
R1764:Asb4 UTSW 6 5,390,798 (GRCm39) splice site probably null
R2118:Asb4 UTSW 6 5,390,687 (GRCm39) missense probably benign
R3976:Asb4 UTSW 6 5,390,771 (GRCm39) missense probably benign 0.01
R4020:Asb4 UTSW 6 5,390,803 (GRCm39) splice site probably benign
R4067:Asb4 UTSW 6 5,423,651 (GRCm39) missense probably damaging 1.00
R4469:Asb4 UTSW 6 5,423,409 (GRCm39) missense probably benign 0.01
R4895:Asb4 UTSW 6 5,398,266 (GRCm39) missense probably damaging 0.98
R5432:Asb4 UTSW 6 5,430,912 (GRCm39) missense probably damaging 1.00
R5444:Asb4 UTSW 6 5,431,040 (GRCm39) missense probably damaging 0.98
R6196:Asb4 UTSW 6 5,390,699 (GRCm39) missense probably benign 0.05
R6276:Asb4 UTSW 6 5,431,043 (GRCm39) missense probably damaging 1.00
R6333:Asb4 UTSW 6 5,423,597 (GRCm39) missense probably damaging 1.00
R6922:Asb4 UTSW 6 5,398,304 (GRCm39) missense possibly damaging 0.87
R7098:Asb4 UTSW 6 5,398,499 (GRCm39) missense probably damaging 1.00
R7196:Asb4 UTSW 6 5,423,356 (GRCm39) missense probably benign 0.00
R7547:Asb4 UTSW 6 5,398,350 (GRCm39) missense probably damaging 1.00
R7561:Asb4 UTSW 6 5,430,968 (GRCm39) missense possibly damaging 0.87
R7707:Asb4 UTSW 6 5,430,968 (GRCm39) missense probably benign 0.05
R8486:Asb4 UTSW 6 5,390,653 (GRCm39) missense possibly damaging 0.72
R9170:Asb4 UTSW 6 5,390,775 (GRCm39) missense probably benign 0.26
R9440:Asb4 UTSW 6 5,429,817 (GRCm39) missense probably benign 0.01
R9684:Asb4 UTSW 6 5,398,296 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16