Incidental Mutation 'R8920:Rnf139'
| ID |
679213 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8920 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
58760975-58774239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58771529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 518
(T518I)
|
| 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: T518I
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046467
Gene: ENSMUSG00000037075
AA Change: T518I
| 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 |
probably benign
Transcript: ENSMUST00000227540
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228538
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228787
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa10 |
T |
A |
8: 62,527,580 (GRCm39) |
Q160L |
probably benign |
Het |
| Apc2 |
A |
T |
10: 80,149,934 (GRCm39) |
I1663L |
probably benign |
Het |
| Bahcc1 |
C |
G |
11: 120,175,331 (GRCm39) |
R1802G |
probably damaging |
Het |
| C1qtnf1 |
T |
C |
11: 118,339,068 (GRCm39) |
V246A |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,078,570 (GRCm39) |
M267T |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,017,180 (GRCm39) |
K48E |
probably benign |
Het |
| Cfap46 |
G |
T |
7: 139,232,442 (GRCm39) |
N840K |
|
Het |
| Cfap54 |
T |
A |
10: 92,776,199 (GRCm39) |
|
probably null |
Het |
| Cnrip1 |
A |
C |
11: 17,005,003 (GRCm39) |
K184N |
unknown |
Het |
| Dnah11 |
A |
T |
12: 118,077,674 (GRCm39) |
L1273Q |
probably damaging |
Het |
| Dyrk1a |
T |
G |
16: 94,460,488 (GRCm39) |
I48R |
probably benign |
Het |
| Exoc7 |
T |
C |
11: 116,180,055 (GRCm39) |
E683G |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,799,171 (GRCm39) |
Y54C |
probably benign |
Het |
| Igtp |
A |
T |
11: 58,096,999 (GRCm39) |
I57F |
probably damaging |
Het |
| Inhbb |
T |
C |
1: 119,345,107 (GRCm39) |
N394S |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,931,143 (GRCm39) |
H663R |
probably benign |
Het |
| Kcna6 |
A |
G |
6: 126,716,610 (GRCm39) |
F93S |
probably damaging |
Het |
| L1td1 |
C |
A |
4: 98,624,864 (GRCm39) |
S353* |
probably null |
Het |
| Lgals12 |
T |
C |
19: 7,576,166 (GRCm39) |
I253V |
possibly damaging |
Het |
| Lgals4 |
C |
T |
7: 28,540,289 (GRCm39) |
R195C |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 42,213,610 (GRCm39) |
D67E |
|
Het |
| Lrrc43 |
T |
C |
5: 123,639,194 (GRCm39) |
S408P |
probably benign |
Het |
| Madd |
T |
C |
2: 91,007,168 (GRCm39) |
I315V |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,719,280 (GRCm39) |
F2281S |
probably damaging |
Het |
| Med13l |
A |
T |
5: 118,885,543 (GRCm39) |
K1499* |
probably null |
Het |
| Myoc |
A |
G |
1: 162,475,127 (GRCm39) |
E226G |
probably benign |
Het |
| Nmur1 |
T |
C |
1: 86,315,577 (GRCm39) |
Y96C |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,948,863 (GRCm39) |
D145V |
probably damaging |
Het |
| Or7g18 |
C |
A |
9: 18,787,394 (GRCm39) |
T254K |
probably damaging |
Het |
| Paqr8 |
A |
T |
1: 21,005,245 (GRCm39) |
Q133L |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,630,915 (GRCm39) |
D230G |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,744,218 (GRCm39) |
I694T |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,789,640 (GRCm39) |
S1498R |
possibly damaging |
Het |
| Senp6 |
T |
A |
9: 79,999,561 (GRCm39) |
S72T |
probably benign |
Het |
| Slc12a7 |
C |
T |
13: 73,946,568 (GRCm39) |
P554S |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,687,990 (GRCm39) |
R39S |
probably benign |
Het |
| Snrpe |
T |
G |
1: 133,534,199 (GRCm39) |
H88P |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,533,088 (GRCm39) |
V3115E |
probably damaging |
Het |
| Stk39 |
C |
T |
2: 68,302,191 (GRCm39) |
V11I |
unknown |
Het |
| Tapbpl |
T |
C |
6: 125,205,214 (GRCm39) |
Y244C |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,726,214 (GRCm39) |
E393G |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,620 (GRCm39) |
N111Y |
probably damaging |
Het |
| Vstm4 |
C |
T |
14: 32,585,615 (GRCm39) |
R61C |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,221,615 (GRCm39) |
F698I |
possibly damaging |
Het |
| Zfp467 |
G |
A |
6: 48,415,414 (GRCm39) |
P413S |
probably benign |
Het |
| Zfp532 |
G |
T |
18: 65,820,390 (GRCm39) |
A992S |
probably benign |
Het |
| Zfp622 |
G |
A |
15: 25,996,321 (GRCm39) |
W430* |
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 |
|
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 |
|
R5984:Rnf139
|
UTSW |
15 |
58,770,595 (GRCm39) |
missense |
probably benign |
0.41 |
|
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'- ATGGCTACTATAACGTCCTCTGG -3'
(R):5'- TCTTGAATGTACAGCCATTTCCG -3'
Sequencing Primer
(F):5'- TCCTCTGGGAAAAGCTTGATGAC -3'
(R):5'- GAATGTACAGCCATTTCCGAAGGC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation