Incidental Mutation 'IGL03279:Rbx1'
ID 415528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbx1
Ensembl Gene ENSMUSG00000022400
Gene Name ring-box 1
Synonyms ROC1, 1500002P15Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03279
Quality Score
Status
Chromosome 15
Chromosomal Location 81350517-81360570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81352399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 41 (N41S)
Ref Sequence ENSEMBL: ENSMUSP00000023036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023036] [ENSMUST00000230062] [ENSMUST00000230219]
AlphaFold P62878
PDB Structure STRUCTURE OF THE CAND1-CUL4B-RBX1 COMPLEX [X-RAY DIFFRACTION]
STRUCTURE OF DDB1-DDB2-CUL4A-RBX1 BOUND TO A 12 BP ABASIC SITE CONTAINING DNA-DUPLEX [X-RAY DIFFRACTION]
Structure of DDB1-DDB2-CUL4B-RBX1 bound to a 12 bp abasic site containing DNA-duplex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000023036
AA Change: N41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023036
Gene: ENSMUSG00000022400
AA Change: N41S

DomainStartEndE-ValueType
RING 42 97 6.69e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229880
Predicted Effect probably benign
Transcript: ENSMUST00000230062
Predicted Effect probably benign
Transcript: ENSMUST00000230219
AA Change: N41S

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231027
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before somite formation with reduced embryo size and decreased cell proliferation. Embryonic fibroblasts from heterozygous mice display decreased cell proliferation and cell cycle abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T A 11: 119,904,504 (GRCm39) D224V probably damaging Het
Abca4 C A 3: 121,935,381 (GRCm39) N1526K probably benign Het
Aif1 T A 17: 35,390,523 (GRCm39) K76* probably null Het
Arap2 A G 5: 62,779,253 (GRCm39) S1446P probably damaging Het
Cyb5rl A T 4: 106,941,325 (GRCm39) E250V possibly damaging Het
Dock3 T C 9: 106,788,447 (GRCm39) probably benign Het
Dppa2 A G 16: 48,132,028 (GRCm39) T42A possibly damaging Het
Drosha C T 15: 12,859,478 (GRCm39) P562L probably benign Het
Egfl7 C A 2: 26,480,719 (GRCm39) H126N probably benign Het
Gm5852 T C 3: 93,634,584 (GRCm39) noncoding transcript Het
Gpr161 T C 1: 165,138,098 (GRCm39) F228S probably damaging Het
Grid1 T A 14: 34,667,722 (GRCm39) M83K probably damaging Het
Gsdma2 T C 11: 98,548,549 (GRCm39) S434P unknown Het
Hao2 T A 3: 98,787,712 (GRCm39) N239I possibly damaging Het
Hsd17b14 A T 7: 45,215,617 (GRCm39) I206F possibly damaging Het
Kansl1l A T 1: 66,774,825 (GRCm39) V667E probably damaging Het
Kdm3a T C 6: 71,588,659 (GRCm39) D450G probably benign Het
Lmo7 C A 14: 102,137,944 (GRCm39) A882E probably benign Het
P4ha3 A G 7: 99,949,893 (GRCm39) Y254C probably damaging Het
Pcdh15 A G 10: 74,152,904 (GRCm39) Y408C probably damaging Het
Pglyrp3 T C 3: 91,933,834 (GRCm39) Y160H probably damaging Het
Pnma5 G A X: 72,079,605 (GRCm39) T359I probably benign Het
Ptbp3 A T 4: 59,476,937 (GRCm39) H440Q possibly damaging Het
Rpl3 G A 15: 79,962,560 (GRCm39) T340I probably benign Het
Scrn1 G A 6: 54,525,322 (GRCm39) R16* probably null Het
Sema6a A T 18: 47,433,157 (GRCm39) C91* probably null Het
Slco6d1 T A 1: 98,394,405 (GRCm39) V363E probably damaging Het
Stk38 A G 17: 29,203,179 (GRCm39) probably benign Het
Tanc2 G A 11: 105,803,918 (GRCm39) probably null Het
Thada A G 17: 84,742,988 (GRCm39) F812S probably benign Het
Tubb4b-ps1 A G 5: 7,229,630 (GRCm39) probably benign Het
Veph1 T C 3: 66,162,443 (GRCm39) T72A probably damaging Het
Vps52 T A 17: 34,176,848 (GRCm39) D67E probably damaging Het
Other mutations in Rbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5014:Rbx1 UTSW 15 81,355,161 (GRCm39) missense probably damaging 1.00
R6959:Rbx1 UTSW 15 81,355,163 (GRCm39) nonsense probably null
R8341:Rbx1 UTSW 15 81,358,078 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02