Incidental Mutation 'R9353:Rbck1'
| ID |
708200 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152158254-152174573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 152161145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 368
(H368N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028964]
[ENSMUST00000109847]
|
| AlphaFold |
Q9WUB0 |
| PDB Structure |
Crystal structure of the mouse HOIL1-L-NZF in complex with linear di-ubiquitin [X-RAY DIFFRACTION]
Crystal structure of the mouse HOIL1-L-NZF in complex with linear di-ubiquitin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028964
AA Change: H368N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028964
Gene: ENSMUSG00000027466
AA Change: H368N
| 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: H368N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105473
Gene: ENSMUSG00000027466
AA Change: H368N
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000118592
Gene: ENSMUSG00000027466
AA Change: H189N
| 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 |
|
| Meta Mutation Damage Score |
0.6183 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (44/45) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp7b |
A |
T |
8: 22,517,890 (GRCm39) |
V316D |
possibly damaging |
Het |
| Bhmt1b |
A |
G |
18: 87,774,954 (GRCm39) |
E159G |
probably damaging |
Het |
| Cc2d2a |
T |
C |
5: 43,860,691 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
G |
11: 29,427,433 (GRCm39) |
D1046G |
probably damaging |
Het |
| Ccl12 |
A |
T |
11: 81,993,437 (GRCm39) |
D25V |
possibly damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Ces3a |
G |
T |
8: 105,776,547 (GRCm39) |
R45L |
probably benign |
Het |
| Cntln |
G |
T |
4: 84,802,597 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
C |
A |
16: 59,421,107 (GRCm39) |
|
probably null |
Het |
| Cxxc4 |
G |
T |
3: 133,945,913 (GRCm39) |
G165C |
unknown |
Het |
| Dab2ip |
G |
A |
2: 35,598,851 (GRCm39) |
C181Y |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,143,434 (GRCm39) |
V403A |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,578,507 (GRCm39) |
S3089P |
probably damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,067,571 (GRCm39) |
I1196N |
probably benign |
Het |
| Faiml |
T |
C |
9: 99,116,462 (GRCm39) |
Y76C |
probably damaging |
Het |
| Fam171b |
T |
A |
2: 83,707,028 (GRCm39) |
H299Q |
probably benign |
Het |
| Fbxo36 |
A |
G |
1: 84,874,259 (GRCm39) |
N85S |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,725,623 (GRCm39) |
F999L |
possibly damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,445,211 (GRCm39) |
S614R |
possibly damaging |
Het |
| Il18rap |
A |
G |
1: 40,587,088 (GRCm39) |
T457A |
probably benign |
Het |
| Inmt |
C |
T |
6: 55,151,984 (GRCm39) |
|
probably benign |
Het |
| Kcnb1 |
C |
T |
2: 166,947,007 (GRCm39) |
G614S |
probably benign |
Het |
| Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
| Kdm5a |
T |
A |
6: 120,404,730 (GRCm39) |
V1324E |
probably benign |
Het |
| Lyn |
A |
T |
4: 3,746,804 (GRCm39) |
Y194F |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,693,504 (GRCm39) |
D1043G |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 103,012,800 (GRCm39) |
H397Q |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,872,622 (GRCm39) |
D105E |
possibly damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,545 (GRCm39) |
T1214A |
unknown |
Het |
| Nav3 |
A |
G |
10: 109,554,065 (GRCm39) |
S1766P |
probably damaging |
Het |
| Ncdn |
T |
A |
4: 126,644,464 (GRCm39) |
E119D |
probably benign |
Het |
| Nckipsd |
C |
A |
9: 108,691,471 (GRCm39) |
A416E |
probably damaging |
Het |
| Nek5 |
A |
G |
8: 22,563,961 (GRCm39) |
V623A |
probably benign |
Het |
| Oas1g |
A |
G |
5: 121,023,986 (GRCm39) |
Y108H |
possibly damaging |
Het |
| Or13n4 |
T |
C |
7: 106,423,062 (GRCm39) |
T224A |
probably benign |
Het |
| P2ry1 |
T |
C |
3: 60,911,916 (GRCm39) |
S352P |
probably damaging |
Het |
| Pde6a |
T |
C |
18: 61,390,382 (GRCm39) |
F535S |
probably damaging |
Het |
| Pitpnb |
T |
C |
5: 111,530,891 (GRCm39) |
L228P |
probably damaging |
Het |
| Snrnp35 |
T |
A |
5: 124,628,559 (GRCm39) |
V124E |
probably damaging |
Het |
| Spdye4a |
C |
T |
5: 143,204,793 (GRCm39) |
M224I |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,792,267 (GRCm39) |
Y424H |
probably damaging |
Het |
| Sult1c2 |
A |
T |
17: 54,271,060 (GRCm39) |
D190E |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,051 (GRCm39) |
D887G |
probably damaging |
Het |
| Tiam2 |
C |
T |
17: 3,558,074 (GRCm39) |
Q1233* |
probably null |
Het |
| Tmem88 |
A |
G |
11: 69,288,939 (GRCm39) |
V38A |
probably damaging |
Het |
| Vmn1r219 |
G |
A |
13: 23,346,902 (GRCm39) |
M30I |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,662,261 (GRCm39) |
H247R |
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 |
|
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 |
|
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'- TCCCATTTTAGATGCTGATGGG -3'
(R):5'- CTTGGGACAGGATTGAAGTGC -3'
Sequencing Primer
(F):5'- GGTATTGTAACCCCTAAAGCAGCTC -3'
(R):5'- ACAGGATTGAAGTGCTTGGTTTCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation