Incidental Mutation 'IGL03029:Rnf139'
| ID |
408334 |
| 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 # |
IGL03029
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
58760975-58774239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58770967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 331
(F331L)
|
| 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: F331L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046467
Gene: ENSMUSG00000037075
AA Change: F331L
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
T |
A |
9: 106,312,314 (GRCm39) |
D213V |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 52,933,195 (GRCm39) |
L229P |
probably damaging |
Het |
| Ankrd10 |
A |
T |
8: 11,669,304 (GRCm39) |
|
probably null |
Het |
| Arfgap3 |
C |
T |
15: 83,206,851 (GRCm39) |
E246K |
probably damaging |
Het |
| Cadps |
G |
T |
14: 12,376,675 (GRCm38) |
T1274K |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,768,451 (GRCm39) |
T89A |
probably benign |
Het |
| Cylc1 |
A |
C |
X: 110,156,944 (GRCm39) |
|
probably benign |
Het |
| Dach2 |
T |
A |
X: 112,724,833 (GRCm39) |
L492* |
probably null |
Het |
| Dlc1 |
T |
C |
8: 37,038,416 (GRCm39) |
|
probably null |
Het |
| Fanci |
T |
C |
7: 79,093,747 (GRCm39) |
V1033A |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,036,740 (GRCm39) |
I3464T |
possibly damaging |
Het |
| Fus |
A |
G |
7: 127,584,712 (GRCm39) |
|
probably benign |
Het |
| Garin5b |
G |
T |
7: 4,760,839 (GRCm39) |
N624K |
possibly damaging |
Het |
| Hectd3 |
G |
T |
4: 116,854,162 (GRCm39) |
E271* |
probably null |
Het |
| Herc2 |
T |
C |
7: 55,818,715 (GRCm39) |
L2802P |
probably damaging |
Het |
| Hk2 |
G |
A |
6: 82,715,314 (GRCm39) |
R407C |
probably damaging |
Het |
| Josd2 |
T |
C |
7: 44,120,601 (GRCm39) |
S71P |
probably damaging |
Het |
| Kif20b |
A |
G |
19: 34,928,313 (GRCm39) |
T1152A |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,762,469 (GRCm39) |
V1229I |
probably benign |
Het |
| Nup188 |
T |
C |
2: 30,212,592 (GRCm39) |
|
probably benign |
Het |
| Or1i2 |
T |
A |
10: 78,447,792 (GRCm39) |
I228F |
probably benign |
Het |
| Pank1 |
T |
A |
19: 34,798,535 (GRCm39) |
I476F |
probably damaging |
Het |
| Pdcd6 |
A |
G |
13: 74,457,899 (GRCm39) |
Y91H |
probably damaging |
Het |
| Pik3r3 |
T |
G |
4: 116,156,998 (GRCm39) |
V393G |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,295,588 (GRCm39) |
|
probably null |
Het |
| Prx |
C |
T |
7: 27,207,486 (GRCm39) |
R48* |
probably null |
Het |
| Rbm5 |
A |
G |
9: 107,631,652 (GRCm39) |
S222P |
possibly damaging |
Het |
| Rev3l |
T |
A |
10: 39,704,482 (GRCm39) |
I302N |
probably benign |
Het |
| Shisa4 |
G |
T |
1: 135,300,914 (GRCm39) |
Q119K |
probably damaging |
Het |
| Shisa6 |
T |
A |
11: 66,108,839 (GRCm39) |
E346V |
probably damaging |
Het |
| Slc6a3 |
A |
T |
13: 73,686,816 (GRCm39) |
E61V |
probably damaging |
Het |
| Slc9a7 |
T |
A |
X: 20,157,608 (GRCm39) |
M106L |
probably benign |
Het |
| Srek1 |
A |
G |
13: 103,900,468 (GRCm39) |
|
probably benign |
Het |
| Strc |
G |
A |
2: 121,194,525 (GRCm39) |
L1788F |
possibly damaging |
Het |
| Styk1 |
T |
C |
6: 131,277,523 (GRCm39) |
S284G |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,909,625 (GRCm39) |
T158S |
probably benign |
Het |
| Vangl1 |
C |
T |
3: 102,091,400 (GRCm39) |
V229M |
probably damaging |
Het |
| Vsig1 |
A |
G |
X: 139,827,261 (GRCm39) |
T137A |
possibly 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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation