Incidental Mutation 'R4895:Asb4'
ID 377560
Institutional Source Beutler Lab
Gene Symbol Asb4
Ensembl Gene ENSMUSG00000042607
Gene Name ankyrin repeat and SOCS box-containing 4
Synonyms 8430401O13Rik
MMRRC Submission 042499-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 5383386-5433022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5398266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 77 (T77K)
Ref Sequence ENSEMBL: ENSMUSP00000040331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043294] [ENSMUST00000183358]
AlphaFold Q9WV71
Predicted Effect probably damaging
Transcript: ENSMUST00000043294
AA Change: T77K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040331
Gene: ENSMUSG00000042607
AA Change: T77K

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 possibly damaging
Transcript: ENSMUST00000183358
AA Change: T77K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139245
Gene: ENSMUSG00000042607
AA Change: T77K

DomainStartEndE-ValueType
ANK 74 103 6.26e-2 SMART
ANK 106 135 4.46e-7 SMART
ANK 139 168 1.02e3 SMART
Meta Mutation Damage Score 0.1543 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abat G A 16: 8,433,826 (GRCm39) A392T probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Acss2 A G 2: 155,392,401 (GRCm39) probably benign Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Atp8b4 A T 2: 126,256,289 (GRCm39) H223Q probably benign Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Haus3 T C 5: 34,325,414 (GRCm39) R82G probably benign Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Inpp5e C T 2: 26,287,924 (GRCm39) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Lamb3 C T 1: 193,014,622 (GRCm39) R594* probably null Het
Map3k20 A G 2: 72,232,700 (GRCm39) probably benign Het
Maz A T 7: 126,624,472 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Pot1a A C 6: 25,753,205 (GRCm39) F444V probably damaging Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prepl A G 17: 85,388,494 (GRCm39) F203S probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbc1d23 A G 16: 57,019,220 (GRCm39) probably null Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Trpm4 A T 7: 44,967,482 (GRCm39) M574K probably damaging Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Usf3 A C 16: 44,041,459 (GRCm39) S1980R possibly damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null 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
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
Predicted Primers PCR Primer
(F):5'- ACCGACCCGTGTCAAATCTC -3'
(R):5'- CTCAGGGAGTAGCAGTTGAG -3'

Sequencing Primer
(F):5'- GTGTCAAATCTCAGAAAAAGGCTCTG -3'
(R):5'- AGTTGAGCTTTGCGCCAC -3'
Posted On 2016-03-17