Incidental Mutation 'IGL02078:Rnf139'
ID |
283366 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rnf139
|
Ensembl Gene |
ENSMUSG00000037075 |
Gene Name |
ring finger protein 139 |
Synonyms |
4930555P18Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.214)
|
Stock # |
IGL02078
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
58760975-58774239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58771880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 635
(D635G)
|
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 |
possibly damaging
Transcript: ENSMUST00000036904
AA Change: D635G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000046467 Gene: ENSMUSG00000037075 AA Change: D635G
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 |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
C |
15: 59,888,179 (GRCm39) |
D87G |
probably benign |
Het |
Acap1 |
C |
T |
11: 69,786,112 (GRCm39) |
R18Q |
probably damaging |
Het |
Atp1a1 |
A |
C |
3: 101,499,179 (GRCm39) |
V140G |
probably damaging |
Het |
Bmpr1b |
G |
A |
3: 141,576,498 (GRCm39) |
P112S |
possibly damaging |
Het |
Chst8 |
T |
A |
7: 34,374,759 (GRCm39) |
N360I |
possibly damaging |
Het |
Cldn23 |
A |
T |
8: 36,293,359 (GRCm39) |
V43E |
possibly damaging |
Het |
Clta |
T |
C |
4: 44,030,232 (GRCm39) |
F168S |
probably damaging |
Het |
Cyp2c40 |
T |
C |
19: 39,755,926 (GRCm39) |
I463V |
probably benign |
Het |
E2f2 |
A |
G |
4: 135,920,323 (GRCm39) |
D436G |
probably damaging |
Het |
Fbxo24 |
T |
G |
5: 137,622,611 (GRCm39) |
T52P |
probably damaging |
Het |
Gria4 |
G |
A |
9: 4,793,878 (GRCm39) |
A60V |
probably damaging |
Het |
Grm1 |
C |
T |
10: 10,565,354 (GRCm39) |
V985M |
probably benign |
Het |
Hexa |
A |
G |
9: 59,464,586 (GRCm39) |
T159A |
probably benign |
Het |
Inf2 |
T |
A |
12: 112,568,048 (GRCm39) |
V200E |
probably damaging |
Het |
Kif20b |
T |
A |
19: 34,913,044 (GRCm39) |
V319E |
probably damaging |
Het |
Klhl10 |
A |
G |
11: 100,336,577 (GRCm39) |
D188G |
probably benign |
Het |
Mobp |
G |
A |
9: 119,996,980 (GRCm39) |
R37H |
probably damaging |
Het |
Mybpc2 |
T |
A |
7: 44,153,204 (GRCm39) |
D1086V |
probably damaging |
Het |
Nadk |
A |
C |
4: 155,663,860 (GRCm39) |
|
probably benign |
Het |
Or7g33 |
T |
A |
9: 19,448,749 (GRCm39) |
H159L |
probably benign |
Het |
Per1 |
A |
G |
11: 68,995,125 (GRCm39) |
E619G |
probably damaging |
Het |
Rab3gap1 |
G |
A |
1: 127,796,652 (GRCm39) |
|
probably benign |
Het |
Rimkla |
A |
G |
4: 119,325,344 (GRCm39) |
L355P |
probably damaging |
Het |
Sall1 |
T |
A |
8: 89,757,003 (GRCm39) |
N1034Y |
probably damaging |
Het |
Serpinb13 |
A |
T |
1: 106,926,688 (GRCm39) |
Q228L |
probably damaging |
Het |
Sin3b |
G |
T |
8: 73,480,208 (GRCm39) |
M903I |
possibly damaging |
Het |
Slco1a5 |
A |
T |
6: 142,200,172 (GRCm39) |
M204K |
probably benign |
Het |
Smo |
A |
G |
6: 29,754,707 (GRCm39) |
D259G |
possibly damaging |
Het |
Spata31g1 |
A |
C |
4: 42,972,685 (GRCm39) |
K673Q |
possibly damaging |
Het |
Sult2a4 |
T |
C |
7: 13,723,469 (GRCm39) |
I15M |
probably benign |
Het |
Ttn |
T |
A |
2: 76,772,785 (GRCm39) |
|
probably null |
Het |
Wdtc1 |
C |
A |
4: 133,033,271 (GRCm39) |
D176Y |
probably damaging |
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 |
|
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 |
R0680:Rnf139
|
UTSW |
15 |
58,771,501 (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 |
|
Posted On |
2015-04-16 |