Incidental Mutation 'R0038:Rnf168'
| ID |
15461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf168
|
| Ensembl Gene |
ENSMUSG00000014074 |
| Gene Name |
ring finger protein 168 |
| Synonyms |
3110001H15Rik |
| MMRRC Submission |
038332-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.913)
|
| Stock # |
R0038 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32096277-32120252 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32117813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 458
(V458A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014218]
[ENSMUST00000171474]
|
| AlphaFold |
Q80XJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014218
AA Change: V456A
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074
AA Change: V456A
| 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 |
probably benign
Transcript: ENSMUST00000171474
AA Change: V458A
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074
AA Change: V458A
| 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 |
0.0742 |
| Coding Region Coverage |
- 1x: 83.6%
- 3x: 76.1%
- 10x: 58.6%
- 20x: 40.4%
|
| Validation Efficiency |
91% (67/74) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg1 |
T |
C |
1: 82,863,823 (GRCm39) |
|
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,740,896 (GRCm39) |
T253A |
probably benign |
Het |
| Ankrd28 |
A |
T |
14: 31,429,992 (GRCm39) |
M892K |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,022,734 (GRCm39) |
|
probably benign |
Het |
| Cldn8 |
A |
G |
16: 88,359,922 (GRCm39) |
M1T |
probably null |
Het |
| Clec11a |
A |
G |
7: 43,955,906 (GRCm39) |
|
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,127 (GRCm39) |
L305P |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,026,197 (GRCm39) |
E60G |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,748,385 (GRCm39) |
H39L |
probably damaging |
Het |
| Gramd1b |
G |
A |
9: 40,228,822 (GRCm39) |
T252M |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,166,963 (GRCm39) |
S125T |
probably benign |
Het |
| Htr2a |
T |
G |
14: 74,943,687 (GRCm39) |
S422R |
probably benign |
Het |
| Kirrel3 |
T |
A |
9: 34,823,066 (GRCm39) |
|
probably null |
Het |
| Krtap9-5 |
G |
A |
11: 99,839,428 (GRCm39) |
C43Y |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,283,377 (GRCm39) |
F437L |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,062,997 (GRCm39) |
S685P |
possibly damaging |
Het |
| Oog4 |
T |
C |
4: 143,165,514 (GRCm39) |
D211G |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,479,272 (GRCm39) |
E723V |
possibly damaging |
Het |
| Pgm3 |
A |
T |
9: 86,446,726 (GRCm39) |
|
probably benign |
Het |
| Pnpla5 |
A |
G |
15: 84,006,714 (GRCm39) |
Y90H |
probably damaging |
Het |
| Polr1b |
C |
T |
2: 128,957,588 (GRCm39) |
R548* |
probably null |
Het |
| Rnf32 |
T |
C |
5: 29,410,652 (GRCm39) |
|
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,583,943 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,216 (GRCm39) |
F139L |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,299,298 (GRCm39) |
|
probably null |
Het |
| Stard5 |
T |
C |
7: 83,285,951 (GRCm39) |
|
probably benign |
Het |
| Suclg1 |
A |
G |
6: 73,237,486 (GRCm39) |
E77G |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,358,809 (GRCm39) |
G2112C |
probably benign |
Het |
| Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
probably benign |
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 |
|
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 |
|
R2852:Rnf168
|
UTSW |
16 |
32,101,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2012-12-21 |
Incidental Mutation