Incidental Mutation 'R5077:Rbck1'
| ID |
401923 |
| 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 |
042666-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152158254-152174573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 152160371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 436
(M436R)
|
| 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 benign
Transcript: ENSMUST00000028964
AA Change: M436R
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028964
Gene: ENSMUSG00000027466
AA Change: M436R
| 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 benign
Transcript: ENSMUST00000109847
AA Change: M436R
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105473
Gene: ENSMUSG00000027466
AA Change: M436R
| 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 |
0.7789 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
93% (51/55) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,080,200 (GRCm39) |
V8A |
possibly damaging |
Het |
| Agbl4 |
A |
T |
4: 111,423,939 (GRCm39) |
M322L |
probably benign |
Het |
| Ankrd55 |
A |
G |
13: 112,492,522 (GRCm39) |
K231R |
probably benign |
Het |
| Asap1 |
A |
C |
15: 63,999,272 (GRCm39) |
M534R |
probably damaging |
Het |
| B4galnt2 |
T |
A |
11: 95,767,140 (GRCm39) |
|
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,437,475 (GRCm39) |
|
probably null |
Het |
| Cacna1h |
T |
C |
17: 25,594,224 (GRCm39) |
I2311M |
probably benign |
Het |
| Capn2 |
G |
T |
1: 182,300,138 (GRCm39) |
D617E |
possibly damaging |
Het |
| Catsper1 |
A |
G |
19: 5,385,998 (GRCm39) |
D77G |
probably damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,922,098 (GRCm39) |
|
probably benign |
Het |
| Cdca8 |
T |
C |
4: 124,820,470 (GRCm39) |
K109E |
probably damaging |
Het |
| Dbx1 |
A |
G |
7: 49,283,242 (GRCm39) |
S223P |
probably damaging |
Het |
| Dlg4 |
A |
G |
11: 69,917,852 (GRCm39) |
N45S |
possibly damaging |
Het |
| Dlgap2 |
T |
G |
8: 14,872,691 (GRCm39) |
V723G |
probably benign |
Het |
| Efl1 |
C |
A |
7: 82,307,295 (GRCm39) |
Q64K |
probably damaging |
Het |
| Eml1 |
T |
A |
12: 108,472,871 (GRCm39) |
|
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,270,117 (GRCm39) |
|
probably null |
Het |
| Gm10800 |
A |
T |
2: 98,497,379 (GRCm39) |
L80M |
probably benign |
Het |
| H4c16 |
A |
G |
6: 136,781,113 (GRCm39) |
Y89H |
probably benign |
Het |
| Insig2 |
A |
T |
1: 121,239,964 (GRCm39) |
V112E |
probably damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,307,797 (GRCm39) |
S123P |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,780,851 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
C |
8: 10,372,658 (GRCm39) |
V119A |
probably damaging |
Het |
| Naa25 |
G |
A |
5: 121,562,639 (GRCm39) |
V474M |
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,379,277 (GRCm39) |
V219E |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,590,274 (GRCm39) |
I523V |
probably benign |
Het |
| Nrp1 |
G |
T |
8: 129,227,154 (GRCm39) |
|
probably null |
Het |
| Nsun4 |
A |
T |
4: 115,905,781 (GRCm39) |
D58E |
probably benign |
Het |
| Obscn |
G |
T |
11: 58,934,883 (GRCm39) |
A5249D |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,683 (GRCm39) |
H142Q |
probably benign |
Het |
| Osmr |
A |
T |
15: 6,873,874 (GRCm39) |
Y174* |
probably null |
Het |
| Pi4k2a |
T |
C |
19: 42,108,275 (GRCm39) |
|
probably null |
Het |
| Pram1 |
C |
T |
17: 33,863,878 (GRCm39) |
Q572* |
probably null |
Het |
| Prdm5 |
C |
A |
6: 65,756,158 (GRCm39) |
T25K |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,771,439 (GRCm39) |
Y240H |
probably damaging |
Het |
| Pygl |
C |
T |
12: 70,248,666 (GRCm39) |
G318S |
probably benign |
Het |
| Resf1 |
T |
G |
6: 149,227,528 (GRCm39) |
S191R |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,377,488 (GRCm39) |
N64D |
possibly damaging |
Het |
| Rsph4a |
A |
G |
10: 33,784,275 (GRCm39) |
D299G |
probably damaging |
Het |
| Sema4c |
T |
C |
1: 36,590,812 (GRCm39) |
S480G |
probably benign |
Het |
| Srp68 |
T |
C |
11: 116,136,638 (GRCm39) |
D552G |
probably damaging |
Het |
| Syde2 |
G |
T |
3: 145,707,764 (GRCm39) |
A568S |
probably damaging |
Het |
| Szrd1 |
G |
T |
4: 140,867,092 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
T |
4: 118,226,813 (GRCm39) |
|
probably null |
Het |
| Tbc1d31 |
A |
G |
15: 57,818,797 (GRCm39) |
E800G |
probably benign |
Het |
| Tmprss11d |
C |
A |
5: 86,457,122 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
G |
1: 74,480,720 (GRCm39) |
V895A |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,026 (GRCm39) |
I193T |
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,834 (GRCm39) |
V283A |
probably benign |
Het |
| Vps13d |
C |
T |
4: 144,814,811 (GRCm39) |
G3180D |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,344,821 (GRCm39) |
D2354A |
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,723,465 (GRCm39) |
|
probably null |
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 |
|
|
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'- TGAAGTACTGAGTCCCACTCC -3'
(R):5'- TTGGAGGCCAAGACTTCCTC -3'
Sequencing Primer
(F):5'- GAAGTACTGAGTCCCACTCCAGTTAC -3'
(R):5'- AGACTTCCTCCTGGTCAAACC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation