Incidental Mutation 'IGL02997:Rnf168'
| ID |
407178 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf168
|
| Ensembl Gene |
ENSMUSG00000014074 |
| Gene Name |
ring finger protein 168 |
| Synonyms |
3110001H15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.913)
|
| Stock # |
IGL02997
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32096277-32120252 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32104239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 146
(E146K)
|
| 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: E144K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074
AA Change: E144K
| 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: E146K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074
AA Change: E146K
| 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 |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,966,359 (GRCm39) |
|
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,817,353 (GRCm39) |
|
probably benign |
Het |
| Arsa |
T |
C |
15: 89,358,241 (GRCm39) |
D356G |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,585,490 (GRCm39) |
K113E |
probably benign |
Het |
| Cmklr1 |
T |
C |
5: 113,752,701 (GRCm39) |
D100G |
probably benign |
Het |
| Col23a1 |
T |
A |
11: 51,467,979 (GRCm39) |
C517S |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,853,205 (GRCm39) |
L1699F |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,892,776 (GRCm39) |
D900G |
probably benign |
Het |
| Glrp1 |
T |
C |
1: 88,437,507 (GRCm39) |
|
probably benign |
Het |
| Gys2 |
A |
T |
6: 142,395,195 (GRCm39) |
D423E |
probably damaging |
Het |
| H2-T9 |
A |
G |
17: 36,438,728 (GRCm39) |
V221A |
possibly damaging |
Het |
| Hp |
C |
A |
8: 110,302,418 (GRCm39) |
V177F |
probably damaging |
Het |
| Isoc1 |
T |
C |
18: 58,804,516 (GRCm39) |
|
probably benign |
Het |
| Kif18b |
A |
G |
11: 102,799,910 (GRCm39) |
L513P |
probably damaging |
Het |
| Kifc2 |
T |
C |
15: 76,548,539 (GRCm39) |
V342A |
possibly damaging |
Het |
| Krt78 |
A |
T |
15: 101,855,598 (GRCm39) |
S738T |
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,578,018 (GRCm39) |
N381D |
possibly damaging |
Het |
| Masp2 |
C |
A |
4: 148,687,632 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
G |
T |
10: 88,362,235 (GRCm39) |
N982K |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,196,634 (GRCm39) |
|
probably benign |
Het |
| Nkg7 |
T |
C |
7: 43,087,291 (GRCm39) |
F133L |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,014,491 (GRCm39) |
I253N |
probably damaging |
Het |
| Nlrp4e |
G |
T |
7: 23,000,799 (GRCm39) |
Q31H |
probably benign |
Het |
| Or4p22 |
A |
C |
2: 88,317,732 (GRCm39) |
I219L |
probably damaging |
Het |
| Orc6 |
T |
A |
8: 86,032,837 (GRCm39) |
|
probably benign |
Het |
| Pbrm1 |
C |
T |
14: 30,783,508 (GRCm39) |
L542F |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,333,797 (GRCm39) |
I37T |
probably damaging |
Het |
| Pex5l |
C |
A |
3: 33,009,991 (GRCm39) |
|
probably benign |
Het |
| Prl2b1 |
A |
G |
13: 27,569,087 (GRCm39) |
|
probably benign |
Het |
| Rsph6a |
T |
G |
7: 18,788,764 (GRCm39) |
L32R |
probably benign |
Het |
| Scaper |
C |
T |
9: 55,722,783 (GRCm39) |
R675H |
probably damaging |
Het |
| Sf3a2 |
G |
A |
10: 80,639,454 (GRCm39) |
R148H |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,635,610 (GRCm39) |
N328S |
probably benign |
Het |
| Smurf1 |
T |
A |
5: 144,834,815 (GRCm39) |
R153* |
probably null |
Het |
| Sorcs2 |
C |
T |
5: 36,225,492 (GRCm39) |
V126M |
probably damaging |
Het |
| Tamalin |
T |
C |
15: 101,128,899 (GRCm39) |
S216P |
probably damaging |
Het |
| Trav7d-4 |
T |
C |
14: 53,007,713 (GRCm39) |
S69P |
probably damaging |
Het |
| Trh |
G |
T |
6: 92,220,115 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,649,896 (GRCm39) |
V438A |
probably benign |
Het |
| Utp25 |
T |
C |
1: 192,802,892 (GRCm39) |
Q275R |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,042,778 (GRCm39) |
E1991G |
probably null |
Het |
|
| Other mutations in Rnf168 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation