Incidental Mutation 'A4554:Rbck1'
ID |
93 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbck1
|
Ensembl Gene |
ENSMUSG00000027466 |
Gene Name |
RanBP-type and C3HC4-type zinc finger containing 1 |
Synonyms |
Ubce7ip3, HOIL-1L, HOIL-1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
A4554
of strain
gemini
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
152158254-152174573 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 152161092 bp (GRCm39)
|
Zygosity |
Homozygous |
Amino Acid Change |
Asparagine to Lysine
at position 385
(N385K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105473
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028964]
[ENSMUST00000109847]
|
AlphaFold |
Q9WUB0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028964
AA Change: N385K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000028964 Gene: ENSMUSG00000027466 AA Change: N385K
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000109847
AA Change: N385K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105473 Gene: ENSMUSG00000027466 AA Change: N385K
Domain | Start | End | E-Value | Type |
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 |
unknown
Transcript: ENSMUST00000144865
AA Change: N206K
|
SMART Domains |
Protein: ENSMUSP00000118592 Gene: ENSMUSG00000027466 AA Change: N206K
Domain | Start | End | E-Value | Type |
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
|
Validation Efficiency |
84% (92/109) |
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap1 |
T |
C |
15: 63,996,560 (GRCm39) |
|
probably benign |
Het |
Bpifb5 |
A |
T |
2: 154,069,100 (GRCm39) |
Y139F |
possibly damaging |
Homo |
Chd2 |
A |
C |
7: 73,130,716 (GRCm39) |
V782G |
probably benign |
Homo |
Chst4 |
G |
T |
8: 110,756,520 (GRCm39) |
Q448K |
probably benign |
Homo |
Dido1 |
T |
C |
2: 180,317,164 (GRCm39) |
K8E |
probably damaging |
Homo |
Evpl |
A |
G |
11: 116,111,660 (GRCm39) |
L2010P |
probably damaging |
Homo |
Fgl2 |
A |
G |
5: 21,577,776 (GRCm39) |
E21G |
probably benign |
Homo |
Greb1l |
A |
T |
18: 10,532,862 (GRCm39) |
M919L |
possibly damaging |
Homo |
Kel |
T |
A |
6: 41,674,353 (GRCm39) |
D359V |
possibly damaging |
Homo |
Lmtk2 |
A |
G |
5: 144,103,135 (GRCm39) |
D298G |
possibly damaging |
Homo |
Masp1 |
A |
T |
16: 23,273,690 (GRCm39) |
|
probably null |
Homo |
Mrgprb8 |
A |
T |
7: 48,039,156 (GRCm39) |
I276F |
probably damaging |
Homo |
Nde1 |
T |
C |
16: 14,006,274 (GRCm39) |
|
probably benign |
Homo |
Senp6 |
G |
T |
9: 80,055,740 (GRCm39) |
|
probably benign |
Het |
Tm4sf4 |
T |
A |
3: 57,345,188 (GRCm39) |
|
probably null |
Homo |
Ubn2 |
A |
T |
6: 38,461,045 (GRCm39) |
H488L |
probably damaging |
Homo |
Vmn2r120 |
A |
G |
17: 57,832,715 (GRCm39) |
F155L |
probably benign |
Homo |
Vmn2r65 |
T |
A |
7: 84,595,791 (GRCm39) |
T298S |
probably damaging |
Homo |
|
Other mutations in Rbck1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00518:Rbck1
|
APN |
2 |
152,160,315 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00765:Rbck1
|
APN |
2 |
152,172,874 (GRCm39) |
splice site |
probably benign |
|
IGL01647:Rbck1
|
APN |
2 |
152,165,152 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01945:Rbck1
|
APN |
2 |
152,160,236 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02141:Rbck1
|
APN |
2 |
152,160,294 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02573:Rbck1
|
APN |
2 |
152,164,087 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02950:Rbck1
|
APN |
2 |
152,172,997 (GRCm39) |
missense |
possibly damaging |
0.95 |
circei
|
UTSW |
2 |
152,161,145 (GRCm39) |
missense |
probably damaging |
1.00 |
green_fire
|
UTSW |
2 |
152,165,094 (GRCm39) |
nonsense |
probably null |
|
iron_throne
|
UTSW |
2 |
152,160,371 (GRCm39) |
missense |
probably benign |
0.45 |
Viserion
|
UTSW |
2 |
152,172,886 (GRCm39) |
missense |
possibly damaging |
0.87 |
westeros
|
UTSW |
2 |
152,160,653 (GRCm39) |
nonsense |
probably null |
|
R0532:Rbck1
|
UTSW |
2 |
152,166,250 (GRCm39) |
missense |
probably damaging |
0.99 |
R1426:Rbck1
|
UTSW |
2 |
152,169,161 (GRCm39) |
unclassified |
probably benign |
|
R1598:Rbck1
|
UTSW |
2 |
152,165,090 (GRCm39) |
critical splice donor site |
probably null |
|
R1666:Rbck1
|
UTSW |
2 |
152,158,819 (GRCm39) |
missense |
probably damaging |
0.99 |
R1668:Rbck1
|
UTSW |
2 |
152,158,819 (GRCm39) |
missense |
probably damaging |
0.99 |
R1889:Rbck1
|
UTSW |
2 |
152,160,276 (GRCm39) |
missense |
probably damaging |
0.99 |
R4572:Rbck1
|
UTSW |
2 |
152,160,653 (GRCm39) |
nonsense |
probably null |
|
R4592:Rbck1
|
UTSW |
2 |
152,160,653 (GRCm39) |
nonsense |
probably null |
|
R5077:Rbck1
|
UTSW |
2 |
152,160,371 (GRCm39) |
missense |
probably benign |
0.45 |
R6049:Rbck1
|
UTSW |
2 |
152,165,094 (GRCm39) |
nonsense |
probably null |
|
R6494:Rbck1
|
UTSW |
2 |
152,172,886 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7530:Rbck1
|
UTSW |
2 |
152,166,212 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7878:Rbck1
|
UTSW |
2 |
152,160,330 (GRCm39) |
missense |
probably damaging |
0.97 |
R8346:Rbck1
|
UTSW |
2 |
152,160,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R8871:Rbck1
|
UTSW |
2 |
152,164,096 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9353:Rbck1
|
UTSW |
2 |
152,161,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R9782:Rbck1
|
UTSW |
2 |
152,165,113 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Rbck1
|
UTSW |
2 |
152,166,218 (GRCm39) |
missense |
probably benign |
0.09 |
|
Nature of Mutation |
DNA sequencing using the SOLiD technique identified a C to A transversion at position 1525 of the Rbck1 transcript in exon 10 of 13 total exons. Multiple transcripts of the Rbck1 gene are displayed on Ensembl. The mutated nucleotide causes an asparagine to lysine substitution at amino acid 385 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
Protein Function and Prediction |
The Rbck1 gene encodes a 508 amino acid protein that may act as an E3 ubiquitin-protein ligase or as part of the E3 complex, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes like UBE2L3. RBCK1 contains a RanBP2-type zinc finger at amino acids 188-220, a RING-type zinc finger at amino acids 280-325, a B box-type zinc finger at amino acids 374-409, and an ubiquitin-like domain at amino acids 55-119. It may interact with protein kinase C isoforms (PKCβ1 and PKCζ) (Uniprot Q9WUB0) .
The N385K change occurs in the B boc-type zinc finger, and is predicted to be probably damaging by the PolyPhen program.
|
Posted On |
2010-03-16 |