Incidental Mutation 'IGL02141:Rbck1'
ID281530
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 #IGL02141
Quality Score
Status
Chromosome2
Chromosomal Location152316334-152332653 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 152318374 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 462 (R462S)
Ref Sequence ENSEMBL: ENSMUSP00000105473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028963] [ENSMUST00000028964] [ENSMUST00000109847]
Predicted Effect probably benign
Transcript: ENSMUST00000028963
SMART Domains Protein: ENSMUSP00000028963
Gene: ENSMUSG00000027465

DomainStartEndE-ValueType
TBC 56 268 6.19e-5 SMART
low complexity region 304 323 N/A INTRINSIC
transmembrane domain 364 386 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000028964
AA Change: R462S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028964
Gene: ENSMUSG00000027466
AA Change: R462S

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 possibly damaging
Transcript: ENSMUST00000109847
AA Change: R462S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105473
Gene: ENSMUSG00000027466
AA Change: R462S

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: ENSMUST00000128645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140482
Predicted Effect probably benign
Transcript: ENSMUST00000144865
SMART Domains Protein: ENSMUSP00000118592
Gene: ENSMUSG00000027466

DomainStartEndE-ValueType
coiled coil region 13 41 N/A INTRINSIC
RING 63 107 2.67e-5 SMART
low complexity region 142 153 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145889
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,183,465 A188T probably benign Het
2310022B05Rik A T 8: 124,637,906 probably benign Het
4931423N10Rik T C 2: 23,230,200 F203L probably damaging Het
Arntl2 T A 6: 146,828,095 probably benign Het
Atf6b C A 17: 34,653,277 H539Q probably benign Het
Bpifb5 G T 2: 154,229,557 probably null Het
Cep89 T A 7: 35,420,924 M377K probably damaging Het
Clpx G T 9: 65,312,118 probably null Het
Cops5 T C 1: 10,035,117 K47E probably damaging Het
Cryba2 T C 1: 74,892,784 N35S probably benign Het
Ddx27 A G 2: 167,020,523 K162E possibly damaging Het
Dhx36 A G 3: 62,493,889 S319P probably benign Het
Dram2 A G 3: 106,571,696 probably benign Het
Eci2 T A 13: 34,978,673 T300S probably benign Het
Egf C A 3: 129,739,982 G70* probably null Het
Eif5b T C 1: 38,032,322 V444A probably benign Het
Elf3 T C 1: 135,257,707 D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 probably null Het
Fam167a T A 14: 63,452,259 S2T probably benign Het
Flrt3 A G 2: 140,660,688 V340A probably damaging Het
Gimap3 T C 6: 48,765,378 E206G probably benign Het
Gp6 T C 7: 4,394,104 probably benign Het
Gpr158 A T 2: 21,783,290 M581L probably damaging Het
Hapln3 A G 7: 79,118,145 V167A probably damaging Het
Hnrnpll G A 17: 80,050,713 T203I probably benign Het
Ighv3-6 A G 12: 114,288,362 I47T probably damaging Het
Iqgap1 G A 7: 80,738,121 T926M probably damaging Het
Lonp1 A T 17: 56,615,086 S765T probably benign Het
Lpp C T 16: 24,761,615 S27F probably damaging Het
Lrit2 T C 14: 37,068,074 probably benign Het
Luc7l C A 17: 26,253,080 T17K probably damaging Het
Mroh1 G T 15: 76,446,599 S1161I possibly damaging Het
Muc5b T G 7: 141,853,367 C1091G unknown Het
Mut A G 17: 40,938,817 T228A possibly damaging Het
Nppb A T 4: 147,986,006 I11F probably benign Het
Nsf A T 11: 103,828,525 D650E probably benign Het
Ogdh A G 11: 6,355,015 K907E probably damaging Het
Olfr1351 A G 10: 79,017,721 Y133C probably damaging Het
Olfr344 A G 2: 36,568,808 D70G probably damaging Het
Olfr362 G A 2: 37,105,425 S75F probably benign Het
Pcnx A T 12: 81,860,382 Q4L possibly damaging Het
Pgc T A 17: 47,726,931 L9H probably damaging Het
Pikfyve T A 1: 65,246,397 S887T probably benign Het
Plec T C 15: 76,175,615 D3239G probably damaging Het
Pole4 T C 6: 82,648,034 T116A probably benign Het
Prpf8 A G 11: 75,490,672 N300D possibly damaging Het
Rara T A 11: 98,968,081 Y119N probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slfn2 C A 11: 83,069,844 N216K probably benign Het
Suox A G 10: 128,672,098 probably benign Het
Tars T A 15: 11,391,194 Y283F probably damaging Het
Trpm4 A T 7: 45,318,179 probably null Het
Ubtd2 A T 11: 32,499,262 K36N probably benign Het
Unkl T C 17: 25,229,434 L327P probably damaging Het
Vmn1r11 T A 6: 57,137,379 Y9* probably null Het
Vps13b T C 15: 35,572,081 V948A probably benign Het
Zbtb17 A G 4: 141,464,953 H403R probably damaging Het
Other mutations in Rbck1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Rbck1 APN 2 152318395 missense probably damaging 0.98
IGL00765:Rbck1 APN 2 152330954 splice site probably benign
IGL01647:Rbck1 APN 2 152323232 missense probably damaging 1.00
IGL01945:Rbck1 APN 2 152318316 missense probably damaging 1.00
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
R7878:Rbck1 UTSW 2 152318410 missense probably damaging 0.97
R8346:Rbck1 UTSW 2 152318780 missense probably damaging 1.00
Z1177:Rbck1 UTSW 2 152324298 missense probably benign 0.09
Posted On2015-04-16