Incidental Mutation 'R9440:Asb4'
ID 713583
Institutional Source Beutler Lab
Gene Symbol Asb4
Ensembl Gene ENSMUSG00000042607
Gene Name ankyrin repeat and SOCS box-containing 4
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R9440 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 5383386-5433022 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5429817 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 352 (I352M)
Ref Sequence ENSEMBL: ENSMUSP00000040331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043294]
AlphaFold Q9WV71
Predicted Effect probably benign
Transcript: ENSMUST00000043294
AA Change: I352M

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000040331
Gene: ENSMUSG00000042607
AA Change: I352M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik A T 16: 90,929,944 V116E probably benign Het
Abca17 G A 17: 24,280,478 T1359M probably benign Het
Acacb T A 5: 114,246,024 C2205S possibly damaging Het
Akap3 A G 6: 126,864,628 E70G probably benign Het
Aldh1a3 C A 7: 66,419,244 probably null Het
Bach1 C G 16: 87,719,715 S381R probably benign Het
BC034090 A G 1: 155,226,215 L101P probably benign Het
Bms1 A T 6: 118,405,256 D440E probably benign Het
Bpifb6 A T 2: 153,905,994 D191V probably benign Het
Cfd T C 10: 79,890,982 probably null Het
Cnot3 G A 7: 3,653,561 E252K probably damaging Het
Col6a3 T C 1: 90,779,346 D2622G unknown Het
Crybg2 T C 4: 134,074,291 S612P probably benign Het
Cyp4b1 T C 4: 115,636,384 K167R probably damaging Het
Gbp3 T C 3: 142,566,574 V279A possibly damaging Het
Gipc2 T C 3: 152,128,069 T192A possibly damaging Het
Gm3285 T C 10: 77,862,077 V20A Het
Gm35339 T C 15: 76,360,864 S1176P Het
Gorasp2 T C 2: 70,711,125 probably null Het
Gpr179 A G 11: 97,338,489 S947P probably benign Het
Klra5 C A 6: 129,906,723 W147L possibly damaging Het
Lrch4 G A 5: 137,637,789 R368Q probably damaging Het
Mamdc4 A G 2: 25,565,588 V876A probably benign Het
Marf1 A C 16: 14,120,332 D1433E probably benign Het
Mcm4 A T 16: 15,635,311 C171* probably null Het
Micall1 C T 15: 79,126,959 P510S Het
Morc3 A G 16: 93,853,087 probably null Het
Mrpl28 G T 17: 26,126,292 V229F possibly damaging Het
Mrps33 A T 6: 39,805,430 Y52* probably null Het
Mybphl T C 3: 108,374,886 I144T probably benign Het
Myom1 A G 17: 71,126,334 M1657V probably benign Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,595,057 probably benign Het
Olfr492 A G 7: 108,322,830 I282T probably benign Het
Peg10 T TCCG 6: 4,756,451 probably benign Het
Plxna1 T C 6: 89,341,930 K637R probably benign Het
Prob1 G T 18: 35,653,165 L679I possibly damaging Het
Sgms2 C A 3: 131,325,069 C255F probably damaging Het
Slc17a9 T C 2: 180,741,297 C399R probably benign Het
Smc4 T A 3: 69,008,122 probably null Het
St14 A G 9: 31,096,549 L578P probably damaging Het
Tcaf3 A T 6: 42,596,972 L102* probably null Het
Tex15 A G 8: 33,582,245 T2607A possibly damaging Het
Trav15-2-dv6-2 T A 14: 53,649,475 probably benign Het
Trip4 T C 9: 65,852,952 probably null Het
Ttf1 A G 2: 29,065,697 I358V probably benign Het
Uroc1 C A 6: 90,345,371 S292R possibly damaging Het
Vmn1r5 T C 6: 56,985,430 I30T possibly damaging Het
Vps33a A T 5: 123,564,984 I192N probably damaging Het
Vps50 A G 6: 3,516,724 I69V probably benign Het
Xirp1 G A 9: 120,018,137 T560M probably damaging Het
Zfp512 A T 5: 31,471,015 T266S possibly damaging Het
Other mutations in Asb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02086:Asb4 APN 6 5398386 missense probably benign 0.00
IGL03015:Asb4 APN 6 5398515 missense possibly damaging 0.75
IGL03280:Asb4 APN 6 5423416 missense probably benign
R1146:Asb4 UTSW 6 5423591 missense probably damaging 0.99
R1146:Asb4 UTSW 6 5423591 missense probably damaging 0.99
R1267:Asb4 UTSW 6 5423747 missense probably damaging 1.00
R1435:Asb4 UTSW 6 5398410 missense probably benign 0.33
R1595:Asb4 UTSW 6 5390692 missense probably damaging 1.00
R1764:Asb4 UTSW 6 5390798 splice site probably null
R2118:Asb4 UTSW 6 5390687 missense probably benign
R3976:Asb4 UTSW 6 5390771 missense probably benign 0.01
R4020:Asb4 UTSW 6 5390803 splice site probably benign
R4067:Asb4 UTSW 6 5423651 missense probably damaging 1.00
R4469:Asb4 UTSW 6 5423409 missense probably benign 0.01
R4895:Asb4 UTSW 6 5398266 missense probably damaging 0.98
R5432:Asb4 UTSW 6 5430912 missense probably damaging 1.00
R5444:Asb4 UTSW 6 5431040 missense probably damaging 0.98
R6196:Asb4 UTSW 6 5390699 missense probably benign 0.05
R6276:Asb4 UTSW 6 5431043 missense probably damaging 1.00
R6333:Asb4 UTSW 6 5423597 missense probably damaging 1.00
R6922:Asb4 UTSW 6 5398304 missense possibly damaging 0.87
R7098:Asb4 UTSW 6 5398499 missense probably damaging 1.00
R7196:Asb4 UTSW 6 5423356 missense probably benign 0.00
R7547:Asb4 UTSW 6 5398350 missense probably damaging 1.00
R7561:Asb4 UTSW 6 5430968 missense possibly damaging 0.87
R7707:Asb4 UTSW 6 5430968 missense probably benign 0.05
R8486:Asb4 UTSW 6 5390653 missense possibly damaging 0.72
R9170:Asb4 UTSW 6 5390775 missense probably benign 0.26
R9684:Asb4 UTSW 6 5398296 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTTGACTCACTGGTGACTC -3'
(R):5'- TCTCAGAGAAATTCCCAAGACTTC -3'

Sequencing Primer
(F):5'- ACTCACTGGTGACTCTTGGTTG -3'
(R):5'- GAGAAATTCCCAAGACTTCCTATATC -3'
Posted On 2022-06-15