Incidental Mutation 'IGL01290:Rnf139'
| ID |
72873 |
| 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 # |
IGL01290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
58760975-58774239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58770175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 67
(I67V)
|
| 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 benign
Transcript: ENSMUST00000036904
AA Change: I67V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046467
Gene: ENSMUSG00000037075
AA Change: I67V
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,331,621 (GRCm39) |
H148R |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,206,232 (GRCm39) |
H177Q |
probably damaging |
Het |
| Adamts18 |
T |
A |
8: 114,501,575 (GRCm39) |
E349D |
probably damaging |
Het |
| Cers5 |
G |
A |
15: 99,637,536 (GRCm39) |
R190* |
probably null |
Het |
| Cntnap2 |
C |
T |
6: 45,992,399 (GRCm39) |
T442I |
probably benign |
Het |
| Col14a1 |
C |
T |
15: 55,286,903 (GRCm39) |
A908V |
unknown |
Het |
| Ctnna2 |
T |
C |
6: 76,859,543 (GRCm39) |
D951G |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,835,599 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,782,998 (GRCm39) |
T106A |
possibly damaging |
Het |
| Fscn3 |
T |
C |
6: 28,430,505 (GRCm39) |
V225A |
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,185 (GRCm39) |
N167S |
probably damaging |
Het |
| Gnal |
A |
G |
18: 67,344,169 (GRCm39) |
D181G |
probably damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,727,408 (GRCm39) |
Y174C |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,809,844 (GRCm39) |
D445N |
probably damaging |
Het |
| Hoxb8 |
A |
G |
11: 96,175,093 (GRCm39) |
I176V |
possibly damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,204,137 (GRCm39) |
E285D |
probably benign |
Het |
| Megf8 |
C |
T |
7: 25,049,083 (GRCm39) |
R1727* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,350,180 (GRCm39) |
D611G |
probably damaging |
Het |
| Nudt19 |
A |
G |
7: 35,247,501 (GRCm39) |
S303P |
probably damaging |
Het |
| Rhcg |
A |
G |
7: 79,248,342 (GRCm39) |
F421L |
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,139,198 (GRCm39) |
|
probably benign |
Het |
| Smarca5 |
A |
G |
8: 81,454,277 (GRCm39) |
S256P |
probably benign |
Het |
| Sun3 |
C |
T |
11: 8,973,341 (GRCm39) |
G119S |
possibly damaging |
Het |
| Tlr12 |
A |
C |
4: 128,511,630 (GRCm39) |
S207A |
probably damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,016,701 (GRCm39) |
|
probably benign |
Het |
| Zdhhc16 |
T |
A |
19: 41,926,487 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation