Incidental Mutation 'IGL02141:Rbck1'
| ID |
281530 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02141
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
152158254-152174573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 152160294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| 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 |
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
| 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 |
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
| 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
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
C |
T |
5: 146,120,275 (GRCm39) |
A188T |
probably benign |
Het |
| 2310022B05Rik |
A |
T |
8: 125,364,645 (GRCm39) |
|
probably benign |
Het |
| Atf6b |
C |
A |
17: 34,872,251 (GRCm39) |
H539Q |
probably benign |
Het |
| Bmal2 |
T |
A |
6: 146,729,593 (GRCm39) |
|
probably benign |
Het |
| Bpifb5 |
G |
T |
2: 154,071,477 (GRCm39) |
|
probably null |
Het |
| Cep89 |
T |
A |
7: 35,120,349 (GRCm39) |
M377K |
probably damaging |
Het |
| Clpx |
G |
T |
9: 65,219,400 (GRCm39) |
|
probably null |
Het |
| Cops5 |
T |
C |
1: 10,105,342 (GRCm39) |
K47E |
probably damaging |
Het |
| Cryba2 |
T |
C |
1: 74,931,943 (GRCm39) |
N35S |
probably benign |
Het |
| Ddx27 |
A |
G |
2: 166,862,443 (GRCm39) |
K162E |
possibly damaging |
Het |
| Dhx36 |
A |
G |
3: 62,401,310 (GRCm39) |
S319P |
probably benign |
Het |
| Dram2 |
A |
G |
3: 106,479,012 (GRCm39) |
|
probably benign |
Het |
| Eci2 |
T |
A |
13: 35,162,656 (GRCm39) |
T300S |
probably benign |
Het |
| Egf |
C |
A |
3: 129,533,631 (GRCm39) |
G70* |
probably null |
Het |
| Eif5b |
T |
C |
1: 38,071,403 (GRCm39) |
V444A |
probably benign |
Het |
| Elf3 |
T |
C |
1: 135,185,445 (GRCm39) |
D23G |
possibly damaging |
Het |
| Epb41l4b |
A |
T |
4: 57,103,422 (GRCm39) |
|
probably null |
Het |
| Fam167a |
T |
A |
14: 63,689,708 (GRCm39) |
S2T |
probably benign |
Het |
| Flrt3 |
A |
G |
2: 140,502,608 (GRCm39) |
V340A |
probably damaging |
Het |
| Gimap3 |
T |
C |
6: 48,742,312 (GRCm39) |
E206G |
probably benign |
Het |
| Gp6 |
T |
C |
7: 4,397,103 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,788,101 (GRCm39) |
M581L |
probably damaging |
Het |
| Hapln3 |
A |
G |
7: 78,767,893 (GRCm39) |
V167A |
probably damaging |
Het |
| Hnrnpll |
G |
A |
17: 80,358,142 (GRCm39) |
T203I |
probably benign |
Het |
| Ighv3-6 |
A |
G |
12: 114,251,982 (GRCm39) |
I47T |
probably damaging |
Het |
| Iqgap1 |
G |
A |
7: 80,387,869 (GRCm39) |
T926M |
probably damaging |
Het |
| Lonp1 |
A |
T |
17: 56,922,086 (GRCm39) |
S765T |
probably benign |
Het |
| Lpp |
C |
T |
16: 24,580,365 (GRCm39) |
S27F |
probably damaging |
Het |
| Lrit2 |
T |
C |
14: 36,790,031 (GRCm39) |
|
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,472,054 (GRCm39) |
T17K |
probably damaging |
Het |
| Mmut |
A |
G |
17: 41,249,708 (GRCm39) |
T228A |
possibly damaging |
Het |
| Mroh1 |
G |
T |
15: 76,330,799 (GRCm39) |
S1161I |
possibly damaging |
Het |
| Muc5b |
T |
G |
7: 141,407,104 (GRCm39) |
C1091G |
unknown |
Het |
| Nppb |
A |
T |
4: 148,070,463 (GRCm39) |
I11F |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,719,351 (GRCm39) |
D650E |
probably benign |
Het |
| Ogdh |
A |
G |
11: 6,305,015 (GRCm39) |
K907E |
probably damaging |
Het |
| Or1b1 |
G |
A |
2: 36,995,437 (GRCm39) |
S75F |
probably benign |
Het |
| Or1j15 |
A |
G |
2: 36,458,820 (GRCm39) |
D70G |
probably damaging |
Het |
| Or7a35 |
A |
G |
10: 78,853,555 (GRCm39) |
Y133C |
probably damaging |
Het |
| Pcnx1 |
A |
T |
12: 81,907,156 (GRCm39) |
Q4L |
possibly damaging |
Het |
| Pgc |
T |
A |
17: 48,037,856 (GRCm39) |
L9H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,285,556 (GRCm39) |
S887T |
probably benign |
Het |
| Plec |
T |
C |
15: 76,059,815 (GRCm39) |
D3239G |
probably damaging |
Het |
| Pole4 |
T |
C |
6: 82,625,015 (GRCm39) |
T116A |
probably benign |
Het |
| Potegl |
T |
C |
2: 23,120,212 (GRCm39) |
F203L |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,498 (GRCm39) |
N300D |
possibly damaging |
Het |
| Rara |
T |
A |
11: 98,858,907 (GRCm39) |
Y119N |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Slfn2 |
C |
A |
11: 82,960,670 (GRCm39) |
N216K |
probably benign |
Het |
| Suox |
A |
G |
10: 128,507,967 (GRCm39) |
|
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,391,280 (GRCm39) |
Y283F |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,967,603 (GRCm39) |
|
probably null |
Het |
| Ubtd2 |
A |
T |
11: 32,449,262 (GRCm39) |
K36N |
probably benign |
Het |
| Unkl |
T |
C |
17: 25,448,408 (GRCm39) |
L327P |
probably damaging |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,364 (GRCm39) |
Y9* |
probably null |
Het |
| Vps13b |
T |
C |
15: 35,572,227 (GRCm39) |
V948A |
probably benign |
Het |
| Zbtb17 |
A |
G |
4: 141,192,264 (GRCm39) |
H403R |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation