Incidental Mutation 'R4246:Rnf14'
| ID |
320445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf14
|
| Ensembl Gene |
ENSMUSG00000060450 |
| Gene Name |
ring finger protein 14 |
| Synonyms |
2310075C09Rik, 2610005D23Rik, Triad2, D18Ertd188e, D7Bwg0165e |
| MMRRC Submission |
041062-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
R4246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
38417590-38450902 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 38434701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072376]
[ENSMUST00000072376]
[ENSMUST00000170811]
[ENSMUST00000171461]
[ENSMUST00000171461]
[ENSMUST00000171461]
|
| AlphaFold |
Q9JI90 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072376
|
| SMART Domains |
Protein: ENSMUSP00000072212
Gene: ENSMUSG00000060450
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
11 |
137 |
2.36e-32 |
SMART |
|
low complexity region
|
169 |
179 |
N/A |
INTRINSIC |
|
RING
|
221 |
266 |
6.51e-2 |
SMART |
|
IBR
|
290 |
351 |
3.15e-18 |
SMART |
|
IBR
|
387 |
454 |
2.11e-1 |
SMART |
|
low complexity region
|
470 |
485 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000072376
|
| SMART Domains |
Protein: ENSMUSP00000072212
Gene: ENSMUSG00000060450
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
11 |
137 |
2.36e-32 |
SMART |
|
low complexity region
|
169 |
179 |
N/A |
INTRINSIC |
|
RING
|
221 |
266 |
6.51e-2 |
SMART |
|
IBR
|
290 |
351 |
3.15e-18 |
SMART |
|
IBR
|
387 |
454 |
2.11e-1 |
SMART |
|
low complexity region
|
470 |
485 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158671
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170811
|
| SMART Domains |
Protein: ENSMUSP00000133070
Gene: ENSMUSG00000060450
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
53 |
N/A |
INTRINSIC |
|
RING
|
95 |
140 |
6.51e-2 |
SMART |
|
IBR
|
164 |
225 |
3.15e-18 |
SMART |
|
IBR
|
261 |
328 |
2.11e-1 |
SMART |
|
low complexity region
|
344 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171461
|
| SMART Domains |
Protein: ENSMUSP00000126205
Gene: ENSMUSG00000060450
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
11 |
137 |
2.36e-32 |
SMART |
|
low complexity region
|
169 |
179 |
N/A |
INTRINSIC |
|
RING
|
221 |
266 |
6.51e-2 |
SMART |
|
IBR
|
290 |
351 |
3.15e-18 |
SMART |
|
IBR
|
387 |
454 |
2.11e-1 |
SMART |
|
low complexity region
|
470 |
485 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171461
|
| SMART Domains |
Protein: ENSMUSP00000126205
Gene: ENSMUSG00000060450
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
11 |
137 |
2.36e-32 |
SMART |
|
low complexity region
|
169 |
179 |
N/A |
INTRINSIC |
|
RING
|
221 |
266 |
6.51e-2 |
SMART |
|
IBR
|
290 |
351 |
3.15e-18 |
SMART |
|
IBR
|
387 |
454 |
2.11e-1 |
SMART |
|
low complexity region
|
470 |
485 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171461
|
| SMART Domains |
Protein: ENSMUSP00000126205
Gene: ENSMUSG00000060450
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
11 |
137 |
2.36e-32 |
SMART |
|
low complexity region
|
169 |
179 |
N/A |
INTRINSIC |
|
RING
|
221 |
266 |
6.51e-2 |
SMART |
|
IBR
|
290 |
351 |
3.15e-18 |
SMART |
|
IBR
|
387 |
454 |
2.11e-1 |
SMART |
|
low complexity region
|
470 |
485 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins. Six alternatively spliced transcript variants encoding two distinct isoforms have been reported. [provided by RefSeq, Jan 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Ak1 |
A |
G |
2: 32,523,384 (GRCm39) |
T151A |
possibly damaging |
Het |
| Asxl3 |
A |
G |
18: 22,658,557 (GRCm39) |
D2189G |
probably damaging |
Het |
| Ccdc91 |
C |
T |
6: 147,493,646 (GRCm39) |
A346V |
unknown |
Het |
| Dnah6 |
C |
T |
6: 73,106,431 (GRCm39) |
E1769K |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,750,786 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Glyatl3 |
T |
A |
17: 41,220,989 (GRCm39) |
D126V |
probably benign |
Het |
| Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
| Igkv8-21 |
T |
A |
6: 70,292,436 (GRCm39) |
M1L |
possibly damaging |
Het |
| Itih4 |
C |
A |
14: 30,613,359 (GRCm39) |
H261N |
probably damaging |
Het |
| Jpt1 |
T |
C |
11: 115,405,119 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Klhl32 |
A |
C |
4: 24,800,822 (GRCm39) |
S3A |
possibly damaging |
Het |
| Kmt2d |
C |
T |
15: 98,737,970 (GRCm39) |
|
probably benign |
Het |
| Lamtor5 |
T |
C |
3: 107,186,354 (GRCm39) |
V41A |
probably benign |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Lrfn1 |
G |
T |
7: 28,159,367 (GRCm39) |
V429L |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,843,508 (GRCm39) |
I252N |
probably damaging |
Het |
| Nelfa |
A |
G |
5: 34,056,373 (GRCm39) |
F464S |
probably damaging |
Het |
| Nipbl |
G |
A |
15: 8,361,916 (GRCm39) |
L1454F |
probably damaging |
Het |
| Nr4a3 |
C |
T |
4: 48,083,125 (GRCm39) |
P553S |
possibly damaging |
Het |
| Nrg3 |
G |
A |
14: 39,194,198 (GRCm39) |
T187I |
possibly damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,624 (GRCm39) |
C147S |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,899 (GRCm39) |
V39A |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,125,950 (GRCm39) |
E144G |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pira1 |
C |
T |
7: 3,740,348 (GRCm39) |
G291E |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Ppp1r3a |
T |
A |
6: 14,719,780 (GRCm39) |
E378V |
probably damaging |
Het |
| Psd2 |
T |
C |
18: 36,139,172 (GRCm39) |
L540P |
probably damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3d19 |
G |
A |
3: 86,033,995 (GRCm39) |
V783I |
probably benign |
Het |
| Snca |
T |
C |
6: 60,710,149 (GRCm39) |
E110G |
possibly damaging |
Het |
| Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
| Trhr |
A |
T |
15: 44,096,856 (GRCm39) |
|
probably null |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Tuft1 |
C |
A |
3: 94,522,108 (GRCm39) |
M319I |
probably benign |
Het |
| Vill |
C |
A |
9: 118,889,461 (GRCm39) |
N132K |
probably damaging |
Het |
| Wars2 |
T |
A |
3: 99,123,904 (GRCm39) |
V255E |
probably damaging |
Het |
| Zcchc14 |
CTGATGGTGGTGGTGATGGTGGTGG |
CTGATGGTGGTGG |
8: 122,331,031 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rnf14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Aloft
|
UTSW |
18 |
38,441,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
souffle
|
UTSW |
18 |
38,442,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1682:Rnf14
|
UTSW |
18 |
38,441,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2299:Rnf14
|
UTSW |
18 |
38,441,138 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4941:Rnf14
|
UTSW |
18 |
38,441,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5056:Rnf14
|
UTSW |
18 |
38,441,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6082:Rnf14
|
UTSW |
18 |
38,434,723 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7070:Rnf14
|
UTSW |
18 |
38,434,781 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7772:Rnf14
|
UTSW |
18 |
38,442,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Rnf14
|
UTSW |
18 |
38,446,267 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9393:Rnf14
|
UTSW |
18 |
38,442,680 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
RF014:Rnf14
|
UTSW |
18 |
38,442,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTTTATACATCACACAGCAC -3'
(R):5'- GGAGAAATTAAGTTTTGGGTCTACCTG -3'
Sequencing Primer
(F):5'- CAGCACCTAAGTAGATTTTCAAGGGC -3'
(R):5'- TCTACCTGAGTTGGTGACAGCC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation