Incidental Mutation 'R6276:Asb4'
ID 507634
Institutional Source Beutler Lab
Gene Symbol Asb4
Ensembl Gene ENSMUSG00000042607
Gene Name ankyrin repeat and SOCS box-containing 4
Synonyms 8430401O13Rik
MMRRC Submission 044446-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R6276 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 5383386-5433022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5431043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 426 (Y426C)
Ref Sequence ENSEMBL: ENSMUSP00000040331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043294]
AlphaFold Q9WV71
Predicted Effect probably damaging
Transcript: ENSMUST00000043294
AA Change: Y426C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040331
Gene: ENSMUSG00000042607
AA Change: Y426C

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
Meta Mutation Damage Score 0.2931 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A T 1: 125,322,874 (GRCm39) D364E probably benign Het
Adra2c C T 5: 35,437,423 (GRCm39) T65I probably damaging Het
Agap2 T A 10: 126,925,229 (GRCm39) probably null Het
Ager T C 17: 34,817,728 (GRCm39) V126A possibly damaging Het
Arhgap39 T C 15: 76,621,736 (GRCm39) I288M probably benign Het
Arhgap45 A T 10: 79,862,068 (GRCm39) S541C probably benign Het
Azi2 C T 9: 117,878,406 (GRCm39) T82I probably damaging Het
Baz2b T A 2: 59,778,567 (GRCm39) R764S probably damaging Het
Ccdc146 A C 5: 21,506,338 (GRCm39) I701S probably damaging Het
Ccnq T C 11: 78,642,056 (GRCm39) K145E probably damaging Het
Cd55b T A 1: 130,345,903 (GRCm39) I172F probably damaging Het
Cdk11b A G 4: 155,718,647 (GRCm39) E199G probably benign Het
Cntnap4 A T 8: 113,478,921 (GRCm39) T216S possibly damaging Het
D5Ertd579e A T 5: 36,761,858 (GRCm39) N1336K possibly damaging Het
Dlg5 T C 14: 24,214,636 (GRCm39) N649S probably damaging Het
Dmxl1 A G 18: 49,979,653 (GRCm39) E96G probably benign Het
Dscaml1 C T 9: 45,579,458 (GRCm39) T335I possibly damaging Het
Epb41l2 G T 10: 25,378,022 (GRCm39) G695C probably damaging Het
Erbb4 C T 1: 68,599,735 (GRCm39) R114H probably damaging Het
F2rl1 G T 13: 95,650,446 (GRCm39) Y145* probably null Het
Fsip2 A T 2: 82,810,785 (GRCm39) Y2368F possibly damaging Het
Galnt7 C T 8: 57,989,612 (GRCm39) probably null Het
Garre1 A T 7: 33,941,802 (GRCm39) Y627* probably null Het
Gm6811 T A 17: 21,314,245 (GRCm39) noncoding transcript Het
Gm6811 T G 17: 21,314,952 (GRCm39) noncoding transcript Het
H2-M1 G A 17: 36,982,602 (GRCm39) T86M possibly damaging Het
Hk2 T C 6: 82,720,347 (GRCm39) D170G probably benign Het
Hmcn1 C T 1: 150,614,432 (GRCm39) A1325T possibly damaging Het
Insrr T A 3: 87,707,826 (GRCm39) Y89* probably null Het
Itga1 T C 13: 115,117,388 (GRCm39) E871G probably benign Het
Kat6a T C 8: 23,429,421 (GRCm39) L1592P possibly damaging Het
Kndc1 C A 7: 139,500,979 (GRCm39) A756E probably benign Het
Krt12 A T 11: 99,312,728 (GRCm39) C105* probably null Het
Lama1 G A 17: 68,091,083 (GRCm39) probably null Het
Lama3 A G 18: 12,640,006 (GRCm39) N67S probably benign Het
Lrrk1 A G 7: 65,956,587 (GRCm39) probably null Het
Lypd9 T A 11: 58,337,192 (GRCm39) I94L possibly damaging Het
Map2 T C 1: 66,438,578 (GRCm39) V34A probably damaging Het
Mroh6 A G 15: 75,757,549 (GRCm39) L487P probably damaging Het
Myo18b A T 5: 112,959,508 (GRCm39) S1430T probably benign Het
Notch3 G A 17: 32,373,723 (GRCm39) T495I probably benign Het
Or1e31 A T 11: 73,690,229 (GRCm39) M118K probably damaging Het
Palld C T 8: 61,966,457 (GRCm39) A980T probably damaging Het
Paxip1 A T 5: 27,966,666 (GRCm39) I620N probably damaging Het
Pcdha6 A G 18: 37,102,820 (GRCm39) probably null Het
Pcdhb11 G A 18: 37,554,813 (GRCm39) V48M probably benign Het
Pcdhga6 A G 18: 37,840,697 (GRCm39) E139G probably benign Het
Pck1 T C 2: 172,999,112 (GRCm39) V426A probably damaging Het
Pck2 T A 14: 55,780,081 (GRCm39) I110N probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Phactr3 G A 2: 177,920,812 (GRCm39) E222K probably damaging Het
Ppip5k1 A T 2: 121,153,684 (GRCm39) probably benign Het
Prodh2 A G 7: 30,206,076 (GRCm39) H278R probably benign Het
Rspry1 T A 8: 95,349,886 (GRCm39) H91Q probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Smn1 A G 13: 100,264,503 (GRCm39) N78S possibly damaging Het
Spta1 T A 1: 174,046,078 (GRCm39) I1614N probably damaging Het
Syt17 T C 7: 118,033,513 (GRCm39) D165G probably damaging Het
Tbck A G 3: 132,448,766 (GRCm39) Y593C probably damaging Het
Tcaf2 G C 6: 42,606,687 (GRCm39) F422L probably benign Het
Tex15 T A 8: 34,067,217 (GRCm39) F2216I possibly damaging Het
Trpc4 A G 3: 54,225,441 (GRCm39) E846G probably benign Het
Ttc41 T C 10: 86,580,313 (GRCm39) I753T probably benign Het
Vdac1 C T 11: 52,267,309 (GRCm39) T70M possibly damaging Het
Vmn1r124 A C 7: 20,994,104 (GRCm39) F147V probably benign Het
Vmn1r220 T C 13: 23,368,465 (GRCm39) D77G probably damaging Het
Vmn2r28 T C 7: 5,493,730 (GRCm39) H72R probably benign Het
Vmn2r78 A T 7: 86,570,318 (GRCm39) I279L probably benign Het
Vmn2r95 G T 17: 18,671,732 (GRCm39) A490S possibly damaging Het
Wdfy4 C T 14: 32,831,482 (GRCm39) A915T possibly damaging Het
Zmiz2 G T 11: 6,345,604 (GRCm39) probably null Het
Zscan2 A G 7: 80,525,557 (GRCm39) N426S probably benign Het
Other mutations in Asb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02086:Asb4 APN 6 5,398,386 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- ATCTGGGGAAGCTGAGGATCTG -3'
(R):5'- TCCCTCAGCATACTACTCTAGG -3'

Sequencing Primer
(F):5'- GGATCTGCCCTCAAATTAATCTG -3'
(R):5'- CAGCATACTACTCTAGGATTAATGGC -3'
Posted On 2018-03-15