Incidental Mutation 'R2852:Rnf168'
| ID |
252343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf168
|
| Ensembl Gene |
ENSMUSG00000014074 |
| Gene Name |
ring finger protein 168 |
| Synonyms |
3110001H15Rik |
| MMRRC Submission |
040445-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.913)
|
| Stock # |
R2852 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32096277-32120252 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32101192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 124
(E124G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014218]
[ENSMUST00000155649]
[ENSMUST00000171474]
|
| AlphaFold |
Q80XJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014218
AA Change: E122G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074
AA Change: E122G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
54 |
8.23e-6 |
SMART |
|
coiled coil region
|
114 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
221 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155649
|
| SMART Domains |
Protein: ENSMUSP00000115807
Gene: ENSMUSG00000014074
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
54 |
8.23e-6 |
SMART |
|
coiled coil region
|
114 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171474
AA Change: E124G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074
AA Change: E124G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
8.23e-6 |
SMART |
|
coiled coil region
|
116 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
223 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0737 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit immunodeficient, increased radiosensitivity and age-dependent reduction in male infertility. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(56) : Gene trapped(56)
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
| Bank1 |
A |
T |
3: 135,948,701 (GRCm39) |
S159T |
possibly damaging |
Het |
| Catsperd |
A |
G |
17: 56,967,169 (GRCm39) |
|
probably null |
Het |
| Cblc |
A |
G |
7: 19,514,889 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,776,017 (GRCm39) |
Y48C |
probably damaging |
Het |
| Chrng |
A |
G |
1: 87,134,428 (GRCm39) |
I156M |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,081,515 (GRCm39) |
E559G |
probably damaging |
Het |
| Dnai4 |
A |
G |
4: 102,953,858 (GRCm39) |
S114P |
probably benign |
Het |
| Dzip1 |
A |
C |
14: 119,159,857 (GRCm39) |
M117R |
possibly damaging |
Het |
| Ednrb |
G |
T |
14: 104,059,110 (GRCm39) |
S305R |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
| Ehbp1l1 |
T |
A |
19: 5,766,515 (GRCm39) |
D332V |
probably damaging |
Het |
| Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
| Kap |
T |
C |
6: 133,827,057 (GRCm39) |
K92E |
probably benign |
Het |
| Kcnv2 |
T |
C |
19: 27,300,496 (GRCm39) |
Y116H |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
| Krtap13 |
T |
C |
16: 88,548,524 (GRCm39) |
|
probably benign |
Het |
| Man2a1 |
A |
G |
17: 65,020,596 (GRCm39) |
K791E |
probably benign |
Het |
| Map4k4 |
T |
A |
1: 40,039,915 (GRCm39) |
|
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,159,902 (GRCm39) |
V670D |
probably benign |
Het |
| Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
| Mrln |
T |
C |
10: 70,055,456 (GRCm39) |
I44T |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,381,769 (GRCm39) |
F3724I |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,221,301 (GRCm39) |
|
probably benign |
Het |
| Oosp3 |
T |
A |
19: 11,676,896 (GRCm39) |
|
probably null |
Het |
| Pah |
T |
A |
10: 87,403,327 (GRCm39) |
L131Q |
probably damaging |
Het |
| Pde6h |
G |
A |
6: 136,940,206 (GRCm39) |
C64Y |
probably damaging |
Het |
| Pdzd7 |
C |
G |
19: 45,016,113 (GRCm39) |
V1003L |
probably benign |
Het |
| Pilra |
T |
A |
5: 137,834,342 (GRCm39) |
M14L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,470,416 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Spata1 |
A |
G |
3: 146,193,295 (GRCm39) |
L96P |
possibly damaging |
Het |
| Stk11ip |
A |
G |
1: 75,505,911 (GRCm39) |
|
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,732,476 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,708,461 (GRCm39) |
T340A |
probably benign |
Het |
| Tmeff1 |
T |
A |
4: 48,604,692 (GRCm39) |
|
probably null |
Het |
| Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
Het |
| Zfp14 |
A |
G |
7: 29,738,596 (GRCm39) |
Y130H |
probably benign |
Het |
| Zfp653 |
A |
T |
9: 21,968,862 (GRCm39) |
D426E |
probably benign |
Het |
| Zfyve28 |
G |
A |
5: 34,354,006 (GRCm39) |
P834L |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,364 (GRCm39) |
T549A |
possibly damaging |
Het |
|
| Other mutations in Rnf168 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02997:Rnf168
|
APN |
16 |
32,104,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03108:Rnf168
|
APN |
16 |
32,097,099 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
P0021:Rnf168
|
UTSW |
16 |
32,117,705 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0038:Rnf168
|
UTSW |
16 |
32,117,813 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0038:Rnf168
|
UTSW |
16 |
32,117,813 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0040:Rnf168
|
UTSW |
16 |
32,096,991 (GRCm39) |
splice site |
probably null |
|
|
R0049:Rnf168
|
UTSW |
16 |
32,117,287 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0049:Rnf168
|
UTSW |
16 |
32,117,287 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0760:Rnf168
|
UTSW |
16 |
32,117,204 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1188:Rnf168
|
UTSW |
16 |
32,117,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1386:Rnf168
|
UTSW |
16 |
32,117,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Rnf168
|
UTSW |
16 |
32,117,942 (GRCm39) |
missense |
probably benign |
|
|
R2118:Rnf168
|
UTSW |
16 |
32,097,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2122:Rnf168
|
UTSW |
16 |
32,097,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Rnf168
|
UTSW |
16 |
32,097,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Rnf168
|
UTSW |
16 |
32,097,221 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3418:Rnf168
|
UTSW |
16 |
32,118,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3419:Rnf168
|
UTSW |
16 |
32,118,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4886:Rnf168
|
UTSW |
16 |
32,118,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5335:Rnf168
|
UTSW |
16 |
32,117,402 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5738:Rnf168
|
UTSW |
16 |
32,101,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6570:Rnf168
|
UTSW |
16 |
32,108,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7165:Rnf168
|
UTSW |
16 |
32,101,179 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7529:Rnf168
|
UTSW |
16 |
32,117,732 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7556:Rnf168
|
UTSW |
16 |
32,117,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9338:Rnf168
|
UTSW |
16 |
32,110,801 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9796:Rnf168
|
UTSW |
16 |
32,117,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9800:Rnf168
|
UTSW |
16 |
32,117,386 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTTTCTCTGTATAGCCCTGG -3'
(R):5'- GGAGGAGAGGGTATTGCAGTTAT -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- GAGAGGGTATTGCAGTTATAAAGTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation