Incidental Mutation 'R5984:Rnf139'
| ID |
481576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf139
|
| Ensembl Gene |
ENSMUSG00000037075 |
| Gene Name |
ring finger protein 139 |
| Synonyms |
4930555P18Rik |
| MMRRC Submission |
043251-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R5984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
58760975-58774239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58770595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 207
(Y207H)
|
| 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: Y207H
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000046467
Gene: ENSMUSG00000037075
AA Change: Y207H
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,439,165 (GRCm39) |
L130F |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,137,881 (GRCm39) |
T420A |
possibly damaging |
Het |
| Ano5 |
T |
C |
7: 51,243,412 (GRCm39) |
I795T |
probably damaging |
Het |
| Atpsckmt |
C |
T |
15: 31,617,065 (GRCm39) |
R99* |
probably null |
Het |
| Crlf2 |
G |
A |
5: 109,703,469 (GRCm39) |
P92L |
probably damaging |
Het |
| Dgat1 |
T |
C |
15: 76,386,458 (GRCm39) |
Y492C |
probably damaging |
Het |
| Dna2 |
G |
C |
10: 62,798,285 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,211,344 (GRCm39) |
H982R |
probably benign |
Het |
| F13b |
A |
G |
1: 139,435,950 (GRCm39) |
D252G |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,887,049 (GRCm39) |
E151V |
probably damaging |
Het |
| Gabpb1 |
T |
C |
2: 126,488,573 (GRCm39) |
T264A |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,047,587 (GRCm39) |
E329G |
probably damaging |
Het |
| Git1 |
C |
T |
11: 77,397,309 (GRCm39) |
P721S |
possibly damaging |
Het |
| Hcn3 |
T |
C |
3: 89,055,570 (GRCm39) |
E559G |
probably benign |
Het |
| Invs |
G |
A |
4: 48,421,674 (GRCm39) |
A769T |
probably benign |
Het |
| Ism2 |
T |
A |
12: 87,333,809 (GRCm39) |
T79S |
possibly damaging |
Het |
| Lamb1 |
G |
A |
12: 31,377,773 (GRCm39) |
E1673K |
possibly damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,111,656 (GRCm39) |
L792H |
probably benign |
Het |
| Lnpk |
A |
T |
2: 74,352,543 (GRCm39) |
S380T |
probably benign |
Het |
| Mff |
A |
G |
1: 82,708,848 (GRCm39) |
I66V |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,623,284 (GRCm39) |
K2045E |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,364,120 (GRCm39) |
W4393L |
probably damaging |
Het |
| Or1e31 |
T |
A |
11: 73,690,407 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8k32 |
A |
T |
2: 86,368,512 (GRCm39) |
V249E |
probably damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,733 (GRCm39) |
D414G |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,835,022 (GRCm39) |
E149G |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,665,666 (GRCm39) |
R240G |
probably benign |
Het |
| Polr3d |
A |
T |
14: 70,676,927 (GRCm39) |
F389Y |
possibly damaging |
Het |
| Prex1 |
T |
G |
2: 166,427,664 (GRCm39) |
D826A |
probably damaging |
Het |
| Prss50 |
T |
A |
9: 110,691,454 (GRCm39) |
S253T |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,957,459 (GRCm39) |
D705G |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,655,335 (GRCm39) |
N544I |
probably damaging |
Het |
| Rbm5 |
G |
A |
9: 107,622,141 (GRCm39) |
P611L |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,618,685 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,613,082 (GRCm39) |
R836H |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,212 (GRCm39) |
T32A |
probably damaging |
Het |
| Smad4 |
T |
A |
18: 73,810,982 (GRCm39) |
M1L |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,759,561 (GRCm39) |
D190G |
possibly damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,068,464 (GRCm39) |
D1677N |
probably damaging |
Het |
| Tmem132e |
G |
A |
11: 82,335,923 (GRCm39) |
D1002N |
probably damaging |
Het |
| Usp8 |
C |
A |
2: 126,584,401 (GRCm39) |
Q526K |
probably benign |
Het |
| Wt1 |
A |
G |
2: 105,002,597 (GRCm39) |
S488G |
probably benign |
Het |
| Zbtb43 |
A |
G |
2: 33,344,272 (GRCm39) |
S318P |
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 |
|
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 |
|
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'- TGCAGCTAACCTTTGGAATTGG -3'
(R):5'- AGAAGGACTCAGTTTCATTTGCC -3'
Sequencing Primer
(F):5'- GCAGATTCAGTCCATCTATTCACAG -3'
(R):5'- CAGTTTCATTTGCCATCCTTAAAATG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation