Incidental Mutation 'R0680:Rnf139'
ID |
61767 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf139
|
Ensembl Gene |
ENSMUSG00000037075 |
Gene Name |
ring finger protein 139 |
Synonyms |
4930555P18Rik |
MMRRC Submission |
038865-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.214)
|
Stock # |
R0680 (G1)
|
Quality Score |
164 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
58760975-58774239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58771501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 509
(Y509H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036904]
[ENSMUST00000110155]
[ENSMUST00000226707]
[ENSMUST00000227540]
[ENSMUST00000228538]
[ENSMUST00000228787]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036904
AA Change: Y509H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046467 Gene: ENSMUSG00000037075 AA Change: Y509H
Domain | Start | End | E-Value | Type |
Pfam:TRC8_N
|
19 |
516 |
5.1e-187 |
PFAM |
RING
|
547 |
585 |
1.2e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110155
|
SMART Domains |
Protein: ENSMUSP00000105783 Gene: ENSMUSG00000050891
Domain | Start | End | E-Value | Type |
Pfam:TatD_DNase
|
7 |
263 |
2.4e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226707
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226908
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227540
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228538
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228787
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 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 is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased diet-induced liver apoptosis, inflammation and fibrosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clca4a |
A |
T |
3: 144,675,128 (GRCm39) |
F167L |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,706,703 (GRCm39) |
M2137V |
unknown |
Het |
Dennd2a |
A |
T |
6: 39,459,996 (GRCm39) |
L703Q |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,821,703 (GRCm39) |
I5812N |
possibly damaging |
Het |
Gen1 |
T |
A |
12: 11,291,870 (GRCm39) |
S640C |
probably benign |
Het |
Il9 |
T |
C |
13: 56,629,693 (GRCm39) |
T61A |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,425,530 (GRCm39) |
L700P |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,824,926 (GRCm39) |
V1514I |
probably benign |
Het |
Med1 |
A |
T |
11: 98,070,992 (GRCm39) |
|
probably null |
Het |
Or14a257 |
A |
T |
7: 86,138,545 (GRCm39) |
F71L |
probably benign |
Het |
Or4c11c |
A |
T |
2: 88,662,124 (GRCm39) |
Y221F |
probably benign |
Het |
Or52n2 |
A |
G |
7: 104,542,211 (GRCm39) |
I208T |
probably benign |
Het |
Or6c69b |
T |
A |
10: 129,626,687 (GRCm39) |
Y257F |
probably damaging |
Het |
Pcdhb18 |
G |
C |
18: 37,623,347 (GRCm39) |
A226P |
probably damaging |
Het |
Pirb |
T |
A |
7: 3,720,360 (GRCm39) |
N338Y |
possibly damaging |
Het |
Rc3h2 |
A |
C |
2: 37,289,847 (GRCm39) |
I360R |
probably damaging |
Het |
Shisa7 |
T |
A |
7: 4,834,722 (GRCm39) |
D279V |
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,043,967 (GRCm39) |
D1449G |
probably benign |
Het |
Slc6a3 |
T |
C |
13: 73,686,846 (GRCm39) |
L71P |
probably damaging |
Het |
Slc9a5 |
T |
A |
8: 106,082,539 (GRCm39) |
L268Q |
probably null |
Het |
St7 |
T |
C |
6: 17,942,732 (GRCm39) |
S563P |
probably damaging |
Het |
Stx1b |
A |
G |
7: 127,406,895 (GRCm39) |
V240A |
possibly damaging |
Het |
Sugt1 |
A |
G |
14: 79,847,751 (GRCm39) |
I200M |
possibly damaging |
Het |
Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
Tut7 |
G |
A |
13: 59,948,413 (GRCm39) |
T636I |
possibly damaging |
Het |
Ube4a |
T |
A |
9: 44,859,358 (GRCm39) |
Q380L |
probably damaging |
Het |
Ugt1a2 |
A |
G |
1: 88,128,933 (GRCm39) |
Y192C |
probably damaging |
Het |
Ulbp3 |
T |
A |
10: 3,075,133 (GRCm39) |
|
noncoding transcript |
Het |
Unc93b1 |
G |
A |
19: 3,997,093 (GRCm39) |
V505I |
probably benign |
Het |
Usp29 |
T |
C |
7: 6,965,884 (GRCm39) |
S576P |
possibly damaging |
Het |
Vcan |
A |
T |
13: 89,827,941 (GRCm39) |
H2208Q |
probably damaging |
Het |
Zfp106 |
T |
A |
2: 120,357,497 (GRCm39) |
S1133C |
probably damaging |
Het |
Zfp148 |
A |
G |
16: 33,316,174 (GRCm39) |
D282G |
possibly damaging |
Het |
Zswim9 |
A |
C |
7: 12,994,248 (GRCm39) |
V636G |
probably benign |
Het |
|
Other mutations in Rnf139 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00595:Rnf139
|
APN |
15 |
58,770,391 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL01288:Rnf139
|
APN |
15 |
58,771,028 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01290:Rnf139
|
APN |
15 |
58,770,175 (GRCm39) |
missense |
probably benign |
|
IGL02078:Rnf139
|
APN |
15 |
58,771,880 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02302:Rnf139
|
APN |
15 |
58,770,606 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03029:Rnf139
|
APN |
15 |
58,770,967 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03355:Rnf139
|
APN |
15 |
58,771,881 (GRCm39) |
missense |
probably benign |
0.05 |
R0099:Rnf139
|
UTSW |
15 |
58,771,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R0158:Rnf139
|
UTSW |
15 |
58,770,727 (GRCm39) |
missense |
probably benign |
|
R0331:Rnf139
|
UTSW |
15 |
58,771,755 (GRCm39) |
missense |
probably benign |
0.01 |
R0334:Rnf139
|
UTSW |
15 |
58,771,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R0606:Rnf139
|
UTSW |
15 |
58,771,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R1338:Rnf139
|
UTSW |
15 |
58,771,064 (GRCm39) |
missense |
probably damaging |
0.97 |
R1524:Rnf139
|
UTSW |
15 |
58,761,266 (GRCm39) |
missense |
probably damaging |
0.99 |
R1528:Rnf139
|
UTSW |
15 |
58,771,064 (GRCm39) |
missense |
probably damaging |
0.97 |
R1577:Rnf139
|
UTSW |
15 |
58,771,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R1870:Rnf139
|
UTSW |
15 |
58,771,202 (GRCm39) |
missense |
probably benign |
0.00 |
R1889:Rnf139
|
UTSW |
15 |
58,771,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R4647:Rnf139
|
UTSW |
15 |
58,771,836 (GRCm39) |
missense |
probably benign |
0.11 |
R4992:Rnf139
|
UTSW |
15 |
58,770,325 (GRCm39) |
nonsense |
probably null |
|
R5088:Rnf139
|
UTSW |
15 |
58,771,790 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5246:Rnf139
|
UTSW |
15 |
58,771,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R5982:Rnf139
|
UTSW |
15 |
58,770,687 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5984:Rnf139
|
UTSW |
15 |
58,770,595 (GRCm39) |
missense |
probably benign |
0.41 |
R8920:Rnf139
|
UTSW |
15 |
58,771,529 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9120:Rnf139
|
UTSW |
15 |
58,771,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R9507:Rnf139
|
UTSW |
15 |
58,770,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTGAAGGTAATCGTCTCCCTCAC -3'
(R):5'- TGTACAGCCATTTCCGAAGGCAG -3'
Sequencing Primer
(F):5'- GATGGCTACTATAACGTCCTCTGG -3'
(R):5'- CATTTCCGAAGGCAGAGTGC -3'
|
Posted On |
2013-07-30 |