Incidental Mutation 'R4592:Rbck1'
| ID |
342882 |
| 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 |
| MMRRC Submission |
041808-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152158254-152174573 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 152160653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 428
(Q428*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028963]
[ENSMUST00000028964]
[ENSMUST00000109847]
|
| AlphaFold |
Q9WUB0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028963
|
| SMART Domains |
Protein: ENSMUSP00000028963
Gene: ENSMUSG00000027465
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
56 |
268 |
6.19e-5 |
SMART |
|
low complexity region
|
304 |
323 |
N/A |
INTRINSIC |
|
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000028964
AA Change: Q428*
|
| SMART Domains |
Protein: ENSMUSP00000028964
Gene: ENSMUSG00000027466
AA Change: Q428*
| 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 null
Transcript: ENSMUST00000109847
AA Change: Q428*
|
| SMART Domains |
Protein: ENSMUSP00000105473
Gene: ENSMUSG00000027466
AA Change: Q428*
| 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 |
noncoding transcript
Transcript: ENSMUST00000140482
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144865
|
| SMART Domains |
Protein: ENSMUSP00000118592
Gene: ENSMUSG00000027466
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (64/65) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
A |
4: 62,457,164 (GRCm39) |
V161E |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,388,629 (GRCm39) |
V521A |
possibly damaging |
Het |
| Atrn |
T |
C |
2: 130,841,050 (GRCm39) |
|
probably benign |
Het |
| Casp12 |
T |
C |
9: 5,352,923 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,411,230 (GRCm39) |
T318M |
probably damaging |
Het |
| Cfap119 |
C |
T |
7: 127,184,663 (GRCm39) |
R172H |
probably benign |
Het |
| Clcn2 |
T |
C |
16: 20,527,892 (GRCm39) |
K525E |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,889,419 (GRCm39) |
T301A |
probably benign |
Het |
| Crat |
T |
C |
2: 30,305,378 (GRCm39) |
|
probably benign |
Het |
| Cul5 |
A |
G |
9: 53,545,027 (GRCm39) |
|
probably benign |
Het |
| Cxcl14 |
A |
T |
13: 56,443,708 (GRCm39) |
I34N |
probably damaging |
Het |
| Cyp2b19 |
A |
G |
7: 26,470,819 (GRCm39) |
I487V |
probably benign |
Het |
| Cyp4a10 |
T |
A |
4: 115,386,690 (GRCm39) |
F446I |
probably damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,063,824 (GRCm39) |
M659L |
possibly damaging |
Het |
| Dclk3 |
T |
C |
9: 111,296,963 (GRCm39) |
F169S |
probably damaging |
Het |
| Ddx52 |
T |
C |
11: 83,848,306 (GRCm39) |
I532T |
probably damaging |
Het |
| Dnm1 |
T |
C |
2: 32,226,023 (GRCm39) |
D352G |
probably damaging |
Het |
| Eif4g2 |
T |
C |
7: 110,677,509 (GRCm39) |
E174G |
probably damaging |
Het |
| Enpp6 |
G |
T |
8: 47,546,067 (GRCm39) |
V386L |
probably damaging |
Het |
| Entr1 |
C |
A |
2: 26,278,909 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
T |
C |
8: 73,095,238 (GRCm39) |
D904G |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,565,604 (GRCm39) |
Y356C |
probably damaging |
Het |
| Flt3 |
A |
T |
5: 147,291,509 (GRCm39) |
S619T |
possibly damaging |
Het |
| Fndc7 |
A |
T |
3: 108,766,218 (GRCm39) |
C716S |
probably damaging |
Het |
| Gm26996 |
T |
A |
6: 130,556,448 (GRCm39) |
|
noncoding transcript |
Het |
| Grik2 |
A |
T |
10: 49,298,711 (GRCm39) |
F50I |
possibly damaging |
Het |
| Guf1 |
T |
C |
5: 69,723,786 (GRCm39) |
V367A |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,188,684 (GRCm39) |
V55A |
probably benign |
Het |
| Impg1 |
T |
A |
9: 80,322,907 (GRCm39) |
I33F |
probably benign |
Het |
| Ltbp4 |
A |
C |
7: 27,024,608 (GRCm39) |
V674G |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,772 (GRCm39) |
L529H |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,914,023 (GRCm39) |
|
probably benign |
Het |
| Neurog3 |
A |
G |
10: 61,969,599 (GRCm39) |
T25A |
probably damaging |
Het |
| Or10v1 |
T |
C |
19: 11,874,126 (GRCm39) |
V247A |
probably benign |
Het |
| Or4a69 |
T |
A |
2: 89,313,100 (GRCm39) |
K126N |
probably damaging |
Het |
| Or51h1 |
A |
C |
7: 102,308,685 (GRCm39) |
Y219S |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,455 (GRCm39) |
T160A |
probably benign |
Het |
| Pax8 |
T |
A |
2: 24,333,201 (GRCm39) |
|
probably benign |
Het |
| Pcsk6 |
A |
C |
7: 65,581,480 (GRCm39) |
I254L |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,404,942 (GRCm39) |
K389R |
probably benign |
Het |
| Rab3gap1 |
C |
A |
1: 127,852,996 (GRCm39) |
|
probably benign |
Het |
| Rptor |
A |
G |
11: 119,689,666 (GRCm39) |
D321G |
probably null |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Skp1 |
T |
C |
11: 52,134,446 (GRCm39) |
I59T |
possibly damaging |
Het |
| Slc23a3 |
T |
G |
1: 75,105,200 (GRCm39) |
N456T |
probably damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,778,850 (GRCm38) |
G920S |
probably damaging |
Het |
| Smarcd3 |
T |
C |
5: 24,797,802 (GRCm39) |
I467V |
probably benign |
Het |
| Spata31d1c |
C |
T |
13: 65,183,874 (GRCm39) |
A472V |
probably damaging |
Het |
| Spmap1 |
A |
G |
11: 97,662,441 (GRCm39) |
S144P |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,773,643 (GRCm39) |
I18T |
probably damaging |
Het |
| Stom |
C |
T |
2: 35,213,758 (GRCm39) |
G80D |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,084,028 (GRCm39) |
Y1915N |
possibly damaging |
Het |
| Tmf1 |
C |
T |
6: 97,150,361 (GRCm39) |
V449I |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,851,295 (GRCm39) |
A483V |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,265,799 (GRCm39) |
|
probably null |
Het |
| Vmn2r75 |
T |
G |
7: 85,815,494 (GRCm39) |
E123D |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
| Zdbf2 |
T |
G |
1: 63,345,750 (GRCm39) |
N1376K |
possibly damaging |
Het |
| Zeb1os1 |
T |
C |
18: 5,525,375 (GRCm39) |
|
noncoding transcript |
Het |
|
| 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 |
|
|
A4554:Rbck1
|
UTSW |
2 |
152,161,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCACCACTTCGTTACAG -3'
(R):5'- GCTTTCTAAGTGAGGGCTTTCAC -3'
Sequencing Primer
(F):5'- ACCACTTCGTTACAGAGGGCTC -3'
(R):5'- AGGGCTTTCACTGATGGCAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation