Incidental Mutation 'R5086:Asb1'
ID 387414
Institutional Source Beutler Lab
Gene Symbol Asb1
Ensembl Gene ENSMUSG00000026311
Gene Name ankyrin repeat and SOCS box-containing 1
Synonyms 1700029O08Rik, 1700054C17Rik
MMRRC Submission 042675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R5086 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 91468266-91487311 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91482533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 214 (Y214C)
Ref Sequence ENSEMBL: ENSMUSP00000140281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027538] [ENSMUST00000086843] [ENSMUST00000186068] [ENSMUST00000188081] [ENSMUST00000188879] [ENSMUST00000190484]
AlphaFold Q9WV74
Predicted Effect probably benign
Transcript: ENSMUST00000027538
AA Change: Y75C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027538
Gene: ENSMUSG00000026311
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
ANK 37 69 2.43e1 SMART
ANK 78 107 7.48e0 SMART
ANK 111 140 3.01e-4 SMART
ANK 144 173 9.78e-4 SMART
ANK 196 221 2.25e2 SMART
Blast:ANK 235 266 2e-11 BLAST
SOCS_box 297 336 6.36e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086843
AA Change: Y315C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000084054
Gene: ENSMUSG00000026311
AA Change: Y315C

DomainStartEndE-ValueType
ANK 29 61 2.43e1 SMART
ANK 70 99 7.48e0 SMART
ANK 103 132 3.01e-4 SMART
ANK 136 165 9.78e-4 SMART
ANK 188 213 2.25e2 SMART
Blast:ANK 227 258 2e-11 BLAST
SOCS_box 289 328 6.36e-13 SMART
Predicted Effect unknown
Transcript: ENSMUST00000186068
AA Change: I85M
SMART Domains Protein: ENSMUSP00000140225
Gene: ENSMUSG00000026311
AA Change: I85M

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Blast:ANK 37 70 1e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000188081
SMART Domains Protein: ENSMUSP00000140165
Gene: ENSMUSG00000026311

DomainStartEndE-ValueType
ANK 29 61 1.5e-1 SMART
ANK 70 99 4.7e-2 SMART
ANK 103 132 1.9e-6 SMART
ANK 136 165 6.3e-6 SMART
ANK 188 213 1.4e0 SMART
Blast:ANK 227 258 1e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000188879
AA Change: Y307C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140731
Gene: ENSMUSG00000026311
AA Change: Y307C

DomainStartEndE-ValueType
ANK 29 61 2.43e1 SMART
ANK 70 99 7.48e0 SMART
ANK 103 132 3.01e-4 SMART
ANK 136 165 9.78e-4 SMART
ANK 188 213 2.25e2 SMART
Blast:ANK 227 258 2e-11 BLAST
SOCS_box 289 328 6.36e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190484
AA Change: Y214C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140281
Gene: ENSMUSG00000026311
AA Change: Y214C

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
ANK 37 72 1.17e2 SMART
ANK 95 120 2.25e2 SMART
Blast:ANK 134 165 3e-12 BLAST
Pfam:SOCS_box 196 218 2.2e-6 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an 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, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutation of this gene results in spleen hypocellularity, decreased spermatogenesis, and thickening of the skin in male animals. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adsl T A 15: 80,847,901 (GRCm39) M278K probably damaging Het
Ago1 T C 4: 126,347,397 (GRCm39) I147V probably benign Het
Ank1 T C 8: 23,578,634 (GRCm39) L261P probably damaging Het
Ank2 T C 3: 126,740,997 (GRCm39) probably benign Het
Ap1b1 T C 11: 4,968,020 (GRCm39) V177A possibly damaging Het
Arhgap21 A G 2: 20,853,645 (GRCm39) S1906P probably benign Het
BC049715 C T 6: 136,817,429 (GRCm39) T223M probably damaging Het
C1ra T A 6: 124,496,688 (GRCm39) C375S probably damaging Het
Cdh26 C T 2: 178,083,210 (GRCm39) R26* probably null Het
Chordc1 A G 9: 18,224,131 (GRCm39) M304V probably benign Het
Cpne8 T C 15: 90,532,771 (GRCm39) probably benign Het
Cracd A G 5: 77,004,971 (GRCm39) E444G unknown Het
Csf1 T C 3: 107,656,026 (GRCm39) E335G possibly damaging Het
Ctnnd2 C T 15: 30,683,493 (GRCm39) P498L possibly damaging Het
Cyp4f18 C T 8: 72,756,276 (GRCm39) R100H probably benign Het
Dnaaf2 G A 12: 69,244,060 (GRCm39) R334C probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dock10 A G 1: 80,529,189 (GRCm39) S1071P possibly damaging Het
Dtnb T C 12: 3,682,942 (GRCm39) V7A probably benign Het
Eif1 T C 11: 100,211,552 (GRCm39) I62T probably damaging Het
Fbxo44 T A 4: 148,240,669 (GRCm39) T145S probably benign Het
G530012D18Rik G C 1: 85,504,941 (GRCm39) probably benign Het
Gabbr2 A T 4: 46,724,342 (GRCm39) M17K probably damaging Het
Gm5860 T A 4: 81,984,173 (GRCm39) noncoding transcript Het
Gm7964 T A 7: 83,406,560 (GRCm39) F439Y possibly damaging Het
Gpbp1l1 C A 4: 116,445,789 (GRCm39) T297N probably benign Het
Greb1 C T 12: 16,758,023 (GRCm39) probably benign Het
Gvin3 A T 7: 106,197,234 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,231,053 (GRCm39) probably benign Het
Ighv16-1 T A 12: 114,032,510 (GRCm39) L97F probably benign Het
Il21r A G 7: 125,232,027 (GRCm39) D485G probably damaging Het
Inpp5d A G 1: 87,633,686 (GRCm39) H441R probably damaging Het
Iqgap2 G T 13: 95,772,088 (GRCm39) R1364S probably benign Het
Krtap20-2 G T 16: 89,002,806 (GRCm39) C2F unknown Het
Man2c1 T A 9: 57,038,924 (GRCm39) D111E probably damaging Het
Map1a G A 2: 121,134,985 (GRCm39) E1696K probably damaging Het
Mdc1 T A 17: 36,159,522 (GRCm39) V634E probably benign Het
Mgam2-ps A G 6: 40,800,547 (GRCm39) noncoding transcript Het
Mllt3 T A 4: 87,707,535 (GRCm39) N68Y probably damaging Het
Mrps18a T A 17: 46,436,621 (GRCm39) D143E probably benign Het
Myl12a T C 17: 71,301,611 (GRCm39) D172G possibly damaging Het
Notch3 T C 17: 32,362,308 (GRCm39) N1439S probably benign Het
Npepps T C 11: 97,108,625 (GRCm39) M764V probably benign Het
Or8d2b T C 9: 38,789,087 (GRCm39) L205P probably damaging Het
Paxbp1 A T 16: 90,812,104 (GRCm39) probably benign Het
Pcdhb7 A T 18: 37,476,162 (GRCm39) T433S possibly damaging Het
Pcdhb8 A T 18: 37,489,159 (GRCm39) Y279F probably damaging Het
Pim3 T C 15: 88,748,606 (GRCm39) L235P probably damaging Het
Plekha4 C T 7: 45,203,082 (GRCm39) S685F possibly damaging Het
Plekhg1 C A 10: 3,853,649 (GRCm39) H167Q probably damaging Het
Plekhn1 G C 4: 156,306,881 (GRCm39) P503A probably benign Het
Sar1a T C 10: 61,527,125 (GRCm39) L181P probably damaging Het
Sec22a G T 16: 35,168,112 (GRCm39) S133* probably null Het
Sipa1l3 G A 7: 29,048,000 (GRCm39) S247F probably damaging Het
Slc31a1 T C 4: 62,306,190 (GRCm39) S103P probably damaging Het
Spag6 A C 2: 18,747,688 (GRCm39) probably benign Het
Stab1 T A 14: 30,865,581 (GRCm39) D1769V probably damaging Het
Stab1 G A 14: 30,881,261 (GRCm39) L590F probably damaging Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Tbc1d2b A G 9: 90,109,510 (GRCm39) L322P probably benign Het
Tdrp T C 8: 14,024,590 (GRCm39) E18G possibly damaging Het
Tlr3 T A 8: 45,855,862 (GRCm39) N106I probably damaging Het
Tmem104 T A 11: 115,092,227 (GRCm39) I112N probably damaging Het
Tmem14c C T 13: 41,174,598 (GRCm39) T69I probably benign Het
Tmprss11g G A 5: 86,644,377 (GRCm39) P156S possibly damaging Het
Ttn A T 2: 76,700,947 (GRCm39) probably benign Het
Vmn1r45 A T 6: 89,910,082 (GRCm39) I296N probably benign Het
Vmn2r1 T A 3: 63,997,418 (GRCm39) V358D probably benign Het
Zc3h7b T C 15: 81,677,375 (GRCm39) L892P probably damaging Het
Zfp366 A G 13: 99,365,451 (GRCm39) Q204R probably benign Het
Zfp598 C A 17: 24,899,872 (GRCm39) probably benign Het
Other mutations in Asb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Asb1 APN 1 91,479,846 (GRCm39) missense probably damaging 0.99
IGL01748:Asb1 APN 1 91,480,008 (GRCm39) missense probably damaging 1.00
IGL02670:Asb1 APN 1 91,474,640 (GRCm39) intron probably benign
R1897:Asb1 UTSW 1 91,474,647 (GRCm39) splice site probably null
R2113:Asb1 UTSW 1 91,471,950 (GRCm39) missense probably damaging 1.00
R4803:Asb1 UTSW 1 91,480,051 (GRCm39) missense probably damaging 1.00
R5103:Asb1 UTSW 1 91,480,066 (GRCm39) missense possibly damaging 0.87
R5301:Asb1 UTSW 1 91,482,475 (GRCm39) missense probably damaging 0.97
R6039:Asb1 UTSW 1 91,474,748 (GRCm39) missense probably damaging 1.00
R6039:Asb1 UTSW 1 91,474,748 (GRCm39) missense probably damaging 1.00
R8552:Asb1 UTSW 1 91,480,078 (GRCm39) missense probably damaging 1.00
R9009:Asb1 UTSW 1 91,480,206 (GRCm39) makesense probably null
R9009:Asb1 UTSW 1 91,480,205 (GRCm39) missense unknown
R9013:Asb1 UTSW 1 91,480,163 (GRCm39) critical splice donor site probably null
R9213:Asb1 UTSW 1 91,482,531 (GRCm39) missense probably damaging 1.00
R9253:Asb1 UTSW 1 91,468,551 (GRCm39) missense unknown
R9286:Asb1 UTSW 1 91,480,150 (GRCm39) missense probably benign 0.00
R9643:Asb1 UTSW 1 91,480,116 (GRCm39) missense probably benign
R9689:Asb1 UTSW 1 91,474,708 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACAGATGAGCAGATGCCC -3'
(R):5'- CTGACAGCCAAGGATCAAGCTG -3'

Sequencing Primer
(F):5'- GATAGCAAGCCTTCTAGTAGCTC -3'
(R):5'- CCAAGGATCAAGCTGGCAGC -3'
Posted On 2016-06-06