Incidental Mutation 'R6399:Rnf34'
| ID |
516096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf34
|
| Ensembl Gene |
ENSMUSG00000029474 |
| Gene Name |
ring finger protein 34 |
| Synonyms |
phafin 1 |
| MMRRC Submission |
044546-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
R6399 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
122988270-123007008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122999839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 32
(F32L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031434]
[ENSMUST00000198602]
|
| AlphaFold |
Q99KR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031434
AA Change: F32L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000031434
Gene: ENSMUSG00000029474
AA Change: F32L
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1Y02|A
|
47 |
148 |
5e-21 |
PDB |
|
Blast:RING
|
62 |
102 |
5e-17 |
BLAST |
|
low complexity region
|
151 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
|
RING
|
329 |
363 |
7.98e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198602
|
| SMART Domains |
Protein: ENSMUSP00000143603
Gene: ENSMUSG00000029474
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RING
|
2 |
29 |
5e-9 |
BLAST |
|
PDB:1Y02|A
|
2 |
75 |
2e-18 |
PDB |
|
low complexity region
|
78 |
105 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3447 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
| Validation Efficiency |
97% (28/29) |
| 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 RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
C |
5: 138,645,821 (GRCm39) |
C569R |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,031,784 (GRCm39) |
W207R |
probably damaging |
Het |
| Apbb2 |
C |
T |
5: 66,608,810 (GRCm39) |
|
probably null |
Het |
| Atad2b |
T |
C |
12: 5,007,558 (GRCm39) |
V415A |
probably damaging |
Het |
| Ccdc150 |
G |
A |
1: 54,303,116 (GRCm39) |
|
probably null |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,828,274 (GRCm39) |
T1072A |
probably damaging |
Het |
| Depdc1b |
T |
A |
13: 108,460,580 (GRCm39) |
F63L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,344 (GRCm39) |
V2431M |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,458,882 (GRCm39) |
E2421G |
probably damaging |
Het |
| Kcna4 |
T |
C |
2: 107,126,894 (GRCm39) |
S543P |
probably damaging |
Het |
| Lrrc30 |
T |
A |
17: 67,939,681 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,294,319 (GRCm39) |
S1025T |
probably damaging |
Het |
| Ndrg3 |
C |
G |
2: 156,782,294 (GRCm39) |
A191P |
probably damaging |
Het |
| Or1o4 |
T |
C |
17: 37,590,666 (GRCm39) |
Y215C |
probably damaging |
Het |
| Or5aq7 |
C |
T |
2: 86,938,330 (GRCm39) |
V134I |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,961 (GRCm39) |
T57A |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,676,834 (GRCm39) |
L205F |
probably benign |
Het |
| Tbc1d24 |
T |
A |
17: 24,427,303 (GRCm39) |
I220F |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,744,385 (GRCm39) |
T758S |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,282,562 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,556,406 (GRCm39) |
S30200R |
probably damaging |
Het |
| Ttn |
G |
C |
2: 76,556,407 (GRCm39) |
F30199L |
probably benign |
Het |
| Uggt1 |
T |
C |
1: 36,202,447 (GRCm39) |
D1050G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,033,312 (GRCm39) |
S605C |
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,096,982 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
C |
A |
18: 45,019,469 (GRCm39) |
Q1413K |
possibly damaging |
Het |
|
| Other mutations in Rnf34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB004:Rnf34
|
UTSW |
5 |
122,988,288 (GRCm39) |
start gained |
probably benign |
|
|
BB014:Rnf34
|
UTSW |
5 |
122,988,288 (GRCm39) |
start gained |
probably benign |
|
|
R0612:Rnf34
|
UTSW |
5 |
123,002,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3800:Rnf34
|
UTSW |
5 |
123,002,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4823:Rnf34
|
UTSW |
5 |
122,988,365 (GRCm39) |
splice site |
probably null |
|
|
R5724:Rnf34
|
UTSW |
5 |
123,004,952 (GRCm39) |
nonsense |
probably null |
|
|
R5881:Rnf34
|
UTSW |
5 |
123,002,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7927:Rnf34
|
UTSW |
5 |
122,988,288 (GRCm39) |
start gained |
probably benign |
|
|
R8853:Rnf34
|
UTSW |
5 |
123,002,087 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9114:Rnf34
|
UTSW |
5 |
122,999,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATTGGCTTCTATCCATTCA -3'
(R):5'- GTGTTATCTGCATGCAGTACAGT -3'
Sequencing Primer
(F):5'- AAACTTGTGTCCCCTGGAAG -3'
(R):5'- CTGCATGCAGTACAGTATTTGATCC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation