Incidental Mutation 'IGL00765:Rbck1'
ID13775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbck1
Ensembl Gene ENSMUSG00000027466
Gene NameRanBP-type and C3HC4-type zinc finger containing 1
SynonymsHOIL-1, HOIL-1L, Ubce7ip3
Accession Numbers

Genbank: NM_001083921; MGI: 1344372

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00765
Quality Score
Status
Chromosome2
Chromosomal Location152316334-152332653 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 152330954 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028964] [ENSMUST00000109847]
Predicted Effect probably benign
Transcript: ENSMUST00000028964
SMART Domains Protein: ENSMUSP00000028964
Gene: ENSMUSG00000027466

DomainStartEndE-ValueType
PDB:4DBG|A 37 137 2e-60 PDB
Blast:UBQ 59 133 2e-15 BLAST
low complexity region 143 152 N/A INTRINSIC
ZnF_RBZ 193 217 5.25e-5 SMART
low complexity region 232 256 N/A INTRINSIC
RING 280 324 2.67e-5 SMART
Pfam:IBR 346 409 1.5e-9 PFAM
Pfam:IBR 422 483 2.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109847
SMART Domains Protein: ENSMUSP00000105473
Gene: ENSMUSG00000027466

DomainStartEndE-ValueType
PDB:4DBG|A 37 137 2e-60 PDB
Blast:UBQ 59 133 2e-15 BLAST
low complexity region 143 152 N/A INTRINSIC
ZnF_RBZ 193 217 5.25e-5 SMART
low complexity region 232 256 N/A INTRINSIC
RING 280 324 2.67e-5 SMART
Blast:IBR 427 507 1e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131889
Coding Region Coverage
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 similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased TNF-induced hepatocyte apoptosis. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 C T 16: 14,411,508 T368I probably damaging Het
Bub1 T A 2: 127,829,472 N64I probably damaging Het
Ccdc97 A G 7: 25,714,852 L159P probably damaging Het
Chrnd T C 1: 87,195,709 V214A probably damaging Het
Csf2rb2 A G 15: 78,292,716 S185P probably benign Het
Dmxl2 A G 9: 54,415,422 probably benign Het
Eif3e A T 15: 43,278,349 M55K probably benign Het
Ercc6l2 T C 13: 63,848,772 V365A possibly damaging Het
Fndc1 A G 17: 7,772,693 S724P unknown Het
Htt T C 5: 34,877,425 probably benign Het
Ints4 C T 7: 97,535,205 T839I probably damaging Het
Lrp6 T G 6: 134,541,854 T83P probably benign Het
Lrrc8d C T 5: 105,811,952 T76I possibly damaging Het
Nae1 T C 8: 104,517,950 probably benign Het
Nlrp14 T C 7: 107,190,139 V45A possibly damaging Het
Nrp2 C A 1: 62,704,251 S16* probably null Het
Nup155 T C 15: 8,153,228 I1225T probably benign Het
Pnpla7 G T 2: 24,980,224 A43S probably damaging Het
Prcp T C 7: 92,933,099 S431P probably benign Het
Smg8 T C 11: 87,078,041 E963G probably damaging Het
Tanc1 A C 2: 59,806,301 M836L probably benign Het
Tnpo1 A G 13: 98,850,104 probably benign Het
Other mutations in Rbck1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Rbck1 APN 2 152318395 missense probably damaging 0.98
IGL01647:Rbck1 APN 2 152323232 missense probably damaging 1.00
IGL01945:Rbck1 APN 2 152318316 missense probably damaging 1.00
IGL02141:Rbck1 APN 2 152318374 missense possibly damaging 0.56
IGL02573:Rbck1 APN 2 152322167 missense possibly damaging 0.90
IGL02950:Rbck1 APN 2 152331077 missense possibly damaging 0.95
green_fire UTSW 2 152323174 nonsense probably null
iron_throne UTSW 2 152318451 missense probably benign 0.45
Viserion UTSW 2 152330966 missense possibly damaging 0.87
westeros UTSW 2 152318733 nonsense probably null
A4554:Rbck1 UTSW 2 152319172 missense probably damaging 1.00
R0532:Rbck1 UTSW 2 152324330 missense probably damaging 0.99
R1426:Rbck1 UTSW 2 152327241 unclassified probably benign
R1598:Rbck1 UTSW 2 152323170 critical splice donor site probably null
R1666:Rbck1 UTSW 2 152316899 missense probably damaging 0.99
R1668:Rbck1 UTSW 2 152316899 missense probably damaging 0.99
R1889:Rbck1 UTSW 2 152318356 missense probably damaging 0.99
R4572:Rbck1 UTSW 2 152318733 nonsense probably null
R4592:Rbck1 UTSW 2 152318733 nonsense probably null
R5077:Rbck1 UTSW 2 152318451 missense probably benign 0.45
R6049:Rbck1 UTSW 2 152323174 nonsense probably null
R6494:Rbck1 UTSW 2 152330966 missense possibly damaging 0.87
R7530:Rbck1 UTSW 2 152324292 missense possibly damaging 0.54
Posted On2012-12-06