Incidental Mutation 'R0760:Rnf168'
| ID |
70062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf168
|
| Ensembl Gene |
ENSMUSG00000014074 |
| Gene Name |
ring finger protein 168 |
| Synonyms |
3110001H15Rik |
| MMRRC Submission |
038940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.913)
|
| Stock # |
R0760 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32096277-32120252 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 32117204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014218]
[ENSMUST00000014218]
[ENSMUST00000014218]
[ENSMUST00000171474]
[ENSMUST00000171474]
[ENSMUST00000171474]
|
| AlphaFold |
Q80XJ2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014218
|
| SMART Domains |
Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074
| 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 null
Transcript: ENSMUST00000014218
|
| SMART Domains |
Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074
| 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 null
Transcript: ENSMUST00000014218
|
| SMART Domains |
Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074
| 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 null
Transcript: ENSMUST00000171474
|
| SMART Domains |
Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171474
|
| SMART Domains |
Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171474
|
| SMART Domains |
Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074
| 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 |
0.9497 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.8%
|
| Validation Efficiency |
95% (39/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
G |
6: 124,324,661 (GRCm39) |
V120A |
possibly damaging |
Het |
| Adamts2 |
T |
C |
11: 50,666,153 (GRCm39) |
V383A |
probably damaging |
Het |
| Alcam |
C |
T |
16: 52,116,035 (GRCm39) |
V180M |
probably benign |
Het |
| Catip |
A |
G |
1: 74,402,118 (GRCm39) |
|
probably benign |
Het |
| Ccm2l |
A |
C |
2: 152,914,104 (GRCm39) |
N298T |
probably damaging |
Het |
| Ccni |
A |
G |
5: 93,331,188 (GRCm39) |
V261A |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyb5d1 |
A |
G |
11: 69,285,999 (GRCm39) |
F41L |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,203,966 (GRCm39) |
|
probably null |
Het |
| Garin2 |
A |
G |
12: 78,761,927 (GRCm39) |
D197G |
probably damaging |
Het |
| Gpaa1 |
T |
C |
15: 76,216,119 (GRCm39) |
I33T |
probably benign |
Het |
| Grip1 |
T |
A |
10: 119,853,983 (GRCm39) |
S512T |
probably damaging |
Het |
| Gtpbp1 |
G |
A |
15: 79,603,356 (GRCm39) |
G140E |
probably damaging |
Het |
| Hspa4l |
T |
A |
3: 40,739,155 (GRCm39) |
L681* |
probably null |
Het |
| Hspg2 |
A |
G |
4: 137,239,660 (GRCm39) |
T456A |
probably damaging |
Het |
| Igkv3-1 |
A |
T |
6: 70,681,119 (GRCm39) |
D106V |
probably damaging |
Het |
| Inhbc |
C |
T |
10: 127,193,237 (GRCm39) |
G260S |
probably damaging |
Het |
| Itga2 |
C |
T |
13: 114,996,168 (GRCm39) |
V708I |
possibly damaging |
Het |
| Kif5c |
T |
C |
2: 49,578,765 (GRCm39) |
I131T |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,558,315 (GRCm39) |
Y1133H |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,920,429 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
A |
G |
8: 87,573,540 (GRCm39) |
Y744H |
probably damaging |
Het |
| Or14j7 |
C |
T |
17: 38,235,005 (GRCm39) |
Q183* |
probably null |
Het |
| Or1n2 |
A |
G |
2: 36,797,233 (GRCm39) |
S92G |
probably benign |
Het |
| Ovol2 |
A |
G |
2: 144,173,679 (GRCm39) |
|
probably null |
Het |
| Pappa2 |
C |
A |
1: 158,544,531 (GRCm39) |
|
probably null |
Het |
| Pcdh10 |
G |
A |
3: 45,335,005 (GRCm39) |
E440K |
probably benign |
Het |
| Pcsk4 |
A |
G |
10: 80,161,775 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
A |
G |
17: 50,915,802 (GRCm39) |
N937S |
possibly damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,642,722 (GRCm39) |
F541L |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,596,805 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
C |
T |
10: 58,312,613 (GRCm39) |
P1111L |
possibly damaging |
Het |
| Rasal3 |
A |
G |
17: 32,611,146 (GRCm39) |
F929S |
probably benign |
Het |
| Rnf111 |
A |
G |
9: 70,336,960 (GRCm39) |
V909A |
probably damaging |
Het |
| Slc2a5 |
T |
C |
4: 150,224,124 (GRCm39) |
L244P |
probably benign |
Het |
| Snta1 |
T |
A |
2: 154,222,860 (GRCm39) |
I288F |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,095,498 (GRCm39) |
C297Y |
probably damaging |
Het |
| Trim44 |
C |
T |
2: 102,230,905 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,200,805 (GRCm39) |
I1164N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATGTCCTGATGCCAGCTATTG -3'
(R):5'- TGTCTCCTACACATAACTGTGGCCC -3'
Sequencing Primer
(F):5'- gcacacctttaatcccagcac -3'
(R):5'- TGCAGAAGACTCCGAACCTT -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation