Incidental Mutation 'R6570:Rnf168'
ID |
526219 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf168
|
Ensembl Gene |
ENSMUSG00000014074 |
Gene Name |
ring finger protein 168 |
Synonyms |
3110001H15Rik |
MMRRC Submission |
044694-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.913)
|
Stock # |
R6570 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
32096277-32120252 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 32108028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 219
(S219N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126484
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014218]
[ENSMUST00000155649]
[ENSMUST00000171474]
|
AlphaFold |
Q80XJ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014218
AA Change: S217N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000014218 Gene: ENSMUSG00000014074 AA Change: S217N
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 benign
Transcript: ENSMUST00000171474
AA Change: S219N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000126484 Gene: ENSMUSG00000014074 AA Change: S219N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
|
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: 14 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdh15 |
T |
C |
8: 123,584,130 (GRCm39) |
V77A |
probably damaging |
Het |
Cfap54 |
C |
T |
10: 92,651,820 (GRCm39) |
V3077I |
unknown |
Het |
Erbb2 |
T |
C |
11: 98,313,873 (GRCm39) |
L272P |
possibly damaging |
Het |
Exd1 |
T |
C |
2: 119,350,654 (GRCm39) |
T536A |
probably benign |
Het |
Hoxc9 |
A |
T |
15: 102,890,185 (GRCm39) |
H34L |
probably benign |
Het |
Kif19a |
G |
T |
11: 114,675,731 (GRCm39) |
R401L |
possibly damaging |
Het |
Mad2l1bp |
A |
T |
17: 46,463,933 (GRCm39) |
H30Q |
probably benign |
Het |
Mettl13 |
A |
G |
1: 162,371,855 (GRCm39) |
L26P |
probably damaging |
Het |
Mmp16 |
G |
A |
4: 18,011,501 (GRCm39) |
V110I |
possibly damaging |
Het |
Or2m13 |
T |
C |
16: 19,226,068 (GRCm39) |
S233G |
probably benign |
Het |
Plcb4 |
C |
T |
2: 135,824,906 (GRCm39) |
A863V |
probably benign |
Het |
Serpine3 |
T |
A |
14: 62,911,770 (GRCm39) |
L244Q |
probably damaging |
Het |
Vmn1r75 |
T |
C |
7: 11,614,883 (GRCm39) |
V205A |
probably damaging |
Het |
Zscan4d |
A |
G |
7: 10,895,927 (GRCm39) |
V481A |
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 |
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 |
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'- TCTCACCAGCTCCACCAAGG -3'
(R):5'- TCTTCTGACATCCAAGGGCA -3'
Sequencing Primer
(F):5'- CTGGAACTCACTCTGTAGATCAGG -3'
(R):5'- ACACACTCCATGCATTTACATG -3'
|
Posted On |
2018-06-22 |