Incidental Mutation 'R2299:Rnf14'
| ID |
245285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf14
|
| Ensembl Gene |
ENSMUSG00000060450 |
| Gene Name |
ring finger protein 14 |
| Synonyms |
2310075C09Rik, 2610005D23Rik, Triad2, D18Ertd188e, D7Bwg0165e |
| MMRRC Submission |
040298-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
R2299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38417590-38450902 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 38441138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 176
(A176V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072376]
[ENSMUST00000170811]
[ENSMUST00000171461]
|
| AlphaFold |
Q9JI90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072376
AA Change: A176V
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000072212
Gene: ENSMUSG00000060450
AA Change: A176V
| 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 benign
Transcript: ENSMUST00000170811
AA Change: A50V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000133070
Gene: ENSMUSG00000060450
AA Change: A50V
| 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 benign
Transcript: ENSMUST00000171461
AA Change: A176V
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000126205
Gene: ENSMUSG00000060450
AA Change: A176V
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,971,845 (GRCm39) |
N68S |
possibly damaging |
Het |
| 5031439G07Rik |
A |
C |
15: 84,837,486 (GRCm39) |
F276V |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,297,381 (GRCm39) |
V2370I |
probably damaging |
Het |
| Acsl3 |
T |
G |
1: 78,676,827 (GRCm39) |
C469W |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,665,204 (GRCm39) |
I372F |
possibly damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,239,462 (GRCm39) |
I442T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,550,963 (GRCm39) |
R376L |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,542 (GRCm39) |
T102S |
probably benign |
Het |
| Chordc1 |
T |
C |
9: 18,213,404 (GRCm39) |
L85P |
probably damaging |
Het |
| Clec2j |
T |
A |
6: 128,632,199 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
T |
C |
1: 171,949,292 (GRCm39) |
I1223T |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyfip2 |
T |
A |
11: 46,176,958 (GRCm39) |
E74V |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,207 (GRCm39) |
D760V |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,513,199 (GRCm39) |
L32P |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 54,950,595 (GRCm39) |
R425S |
possibly damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,572 (GRCm39) |
C177S |
unknown |
Het |
| H2bc9 |
A |
G |
13: 23,727,354 (GRCm39) |
S57P |
probably damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,812,636 (GRCm39) |
D459G |
probably damaging |
Het |
| Limd1 |
A |
T |
9: 123,345,942 (GRCm39) |
K574* |
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,953,425 (GRCm39) |
K569E |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,700,789 (GRCm39) |
W95R |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,571 (GRCm39) |
M315V |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,563 (GRCm39) |
E176G |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
| Rit1 |
T |
A |
3: 88,633,377 (GRCm39) |
|
probably null |
Het |
| Sema5a |
T |
A |
15: 32,562,922 (GRCm39) |
V311E |
possibly damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| Spire1 |
A |
C |
18: 67,663,493 (GRCm39) |
L36R |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,258 (GRCm39) |
V463E |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,815,944 (GRCm39) |
L813S |
possibly damaging |
Het |
| Vmn1r174 |
A |
T |
7: 23,453,429 (GRCm39) |
I32F |
probably benign |
Het |
| Zbtb24 |
G |
A |
10: 41,340,577 (GRCm39) |
V536M |
probably damaging |
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 |
|
R4246:Rnf14
|
UTSW |
18 |
38,434,701 (GRCm39) |
splice site |
probably null |
|
|
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'- AACCTGTGGGAAGAACACCG -3'
(R):5'- TGCAGTATACATGCTTGCACTCC -3'
Sequencing Primer
(F):5'- CACCGAGGCAGAGTGGTG -3'
(R):5'- TTGCACTCCAAGAAGTACATGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation