Incidental Mutation 'IGL02573:Rbck1'
| ID |
299084 |
| 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 # |
IGL02573
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
152158254-152174573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152164087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 339
(I339T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028964]
[ENSMUST00000109847]
|
| AlphaFold |
Q9WUB0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028964
AA Change: I339T
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028964
Gene: ENSMUSG00000027466
AA Change: I339T
| 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: I339T
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105473
Gene: ENSMUSG00000027466
AA Change: I339T
| 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: ENSMUST00000129590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131889
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144865
AA Change: I121T
|
| SMART Domains |
Protein: ENSMUSP00000118592
Gene: ENSMUSG00000027466
AA Change: I121T
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl3 |
T |
A |
4: 98,926,171 (GRCm39) |
W434R |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,512,486 (GRCm39) |
Q344R |
probably benign |
Het |
| B4galt5 |
C |
T |
2: 167,146,982 (GRCm39) |
R284Q |
probably benign |
Het |
| Ccdc80 |
T |
G |
16: 44,915,952 (GRCm39) |
V236G |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,457,191 (GRCm39) |
I926V |
possibly damaging |
Het |
| Dgkz |
A |
C |
2: 91,764,542 (GRCm39) |
S1030R |
probably damaging |
Het |
| Disp3 |
T |
A |
4: 148,355,906 (GRCm39) |
D318V |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,162,136 (GRCm39) |
L58P |
possibly damaging |
Het |
| Ehd1 |
T |
C |
19: 6,344,330 (GRCm39) |
S197P |
probably damaging |
Het |
| Emp1 |
A |
G |
6: 135,356,945 (GRCm39) |
K42R |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,067 (GRCm39) |
T192I |
probably damaging |
Het |
| Gm4922 |
T |
A |
10: 18,659,423 (GRCm39) |
D433V |
probably benign |
Het |
| Gsdma |
T |
C |
11: 98,561,577 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
G |
T |
7: 4,680,852 (GRCm39) |
A208E |
probably damaging |
Het |
| Il5ra |
A |
T |
6: 106,693,712 (GRCm39) |
V342E |
possibly damaging |
Het |
| Kif13b |
T |
C |
14: 65,040,880 (GRCm39) |
F1660S |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,010,016 (GRCm39) |
E388G |
probably damaging |
Het |
| Mettl17 |
G |
A |
14: 52,125,504 (GRCm39) |
|
probably null |
Het |
| Mgat5b |
T |
C |
11: 116,868,540 (GRCm39) |
Y488H |
probably benign |
Het |
| Mtr |
A |
T |
13: 12,214,013 (GRCm39) |
D886E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,435,979 (GRCm39) |
L848* |
probably null |
Het |
| Nav3 |
A |
G |
10: 109,702,835 (GRCm39) |
S233P |
probably benign |
Het |
| Nme9 |
A |
T |
9: 99,352,908 (GRCm39) |
D286V |
probably benign |
Het |
| Nod1 |
C |
A |
6: 54,920,930 (GRCm39) |
A463S |
probably benign |
Het |
| Nthl1 |
A |
G |
17: 24,852,949 (GRCm39) |
K51R |
probably benign |
Het |
| Or1n2 |
A |
G |
2: 36,797,566 (GRCm39) |
I203V |
probably damaging |
Het |
| Or6k14 |
T |
A |
1: 173,927,696 (GRCm39) |
V224D |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,582,012 (GRCm39) |
A908V |
probably benign |
Het |
| Pdcd6 |
A |
G |
13: 74,452,098 (GRCm39) |
Y181H |
probably damaging |
Het |
| Pde10a |
A |
C |
17: 9,180,722 (GRCm39) |
I719L |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,270,014 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
G |
T |
6: 140,527,742 (GRCm39) |
A396S |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,664,789 (GRCm39) |
T342A |
probably damaging |
Het |
| Rbms2 |
A |
T |
10: 127,979,309 (GRCm39) |
I140N |
probably damaging |
Het |
| Scn1b |
A |
T |
7: 30,822,546 (GRCm39) |
L78Q |
possibly damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,188,986 (GRCm39) |
|
probably null |
Het |
| Slc25a30 |
A |
T |
14: 76,007,108 (GRCm39) |
|
probably benign |
Het |
| Slc30a7 |
C |
T |
3: 115,783,796 (GRCm39) |
|
probably benign |
Het |
| Slc5a10 |
C |
A |
11: 61,563,898 (GRCm39) |
R546L |
possibly damaging |
Het |
| Stxbp4 |
T |
C |
11: 90,431,095 (GRCm39) |
D405G |
probably damaging |
Het |
| Tm4sf19 |
A |
C |
16: 32,226,678 (GRCm39) |
T156P |
possibly damaging |
Het |
| Tmem37 |
A |
T |
1: 119,995,719 (GRCm39) |
D119E |
probably damaging |
Het |
| Tor1aip1 |
T |
A |
1: 155,889,117 (GRCm39) |
N113I |
probably damaging |
Het |
| Ubac2 |
T |
A |
14: 122,144,802 (GRCm39) |
Y87N |
possibly damaging |
Het |
| Usp29 |
A |
T |
7: 6,965,617 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
A |
G |
8: 123,991,736 (GRCm39) |
E428G |
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 |
|
IGL02141:Rbck1
|
APN |
2 |
152,160,294 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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