Incidental Mutation 'IGL03279:Rbx1'
ID415528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbx1
Ensembl Gene ENSMUSG00000022400
Gene Namering-box 1
Synonyms1500002P15Rik, ROC1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03279
Quality Score
Status
Chromosome15
Chromosomal Location81466296-81476369 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81468198 bp
ZygosityHeterozygous
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]
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: 120,013,678 D224V probably damaging Het
Abca4 C A 3: 122,141,732 N1526K probably benign Het
Aif1 T A 17: 35,171,547 K76* probably null Het
Arap2 A G 5: 62,621,910 S1446P probably damaging Het
Cyb5rl A T 4: 107,084,128 E250V possibly damaging Het
Dock3 T C 9: 106,911,248 probably benign Het
Dppa2 A G 16: 48,311,665 T42A possibly damaging Het
Drosha C T 15: 12,859,392 P562L probably benign Het
Egfl7 C A 2: 26,590,707 H126N probably benign Het
Gm5852 T C 3: 93,727,277 noncoding transcript Het
Gpr161 T C 1: 165,310,529 F228S probably damaging Het
Grid1 T A 14: 34,945,765 M83K probably damaging Het
Gsdma2 T C 11: 98,657,723 S434P unknown Het
Hao2 T A 3: 98,880,396 N239I possibly damaging Het
Hsd17b14 A T 7: 45,566,193 I206F possibly damaging Het
Kansl1l A T 1: 66,735,666 V667E probably damaging Het
Kdm3a T C 6: 71,611,675 D450G probably benign Het
Lmo7 C A 14: 101,900,508 A882E probably benign Het
P4ha3 A G 7: 100,300,686 Y254C probably damaging Het
Pcdh15 A G 10: 74,317,072 Y408C probably damaging Het
Pglyrp3 T C 3: 92,026,527 Y160H probably damaging Het
Pnma5 G A X: 73,035,999 T359I probably benign Het
Ptbp3 A T 4: 59,476,937 H440Q possibly damaging Het
Rpl3 G A 15: 80,078,359 T340I probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Sema6a A T 18: 47,300,090 C91* probably null Het
Slco6d1 T A 1: 98,466,680 V363E probably damaging Het
Stk38 A G 17: 28,984,205 probably benign Het
Tanc2 G A 11: 105,913,092 probably null Het
Thada A G 17: 84,435,560 F812S probably benign Het
Tubb4b-ps1 A G 5: 7,179,630 probably benign Het
Veph1 T C 3: 66,255,022 T72A probably damaging Het
Vps52 T A 17: 33,957,874 D67E probably damaging Het
Other mutations in Rbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5014:Rbx1 UTSW 15 81470960 missense probably damaging 1.00
R6959:Rbx1 UTSW 15 81470962 nonsense probably null
R8341:Rbx1 UTSW 15 81473877 missense probably damaging 1.00
Posted On2016-08-02