Incidental Mutation 'IGL02302:Rnf139'
ID 287396
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) question?
Stock # IGL02302
Quality Score
Status
Chromosome 15
Chromosomal Location 58760975-58774239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 58770606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 210 (L210F)
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: L210F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046467
Gene: ENSMUSG00000037075
AA Change: L210F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,422,257 (GRCm39) Q211L possibly damaging Het
Abca14 T A 7: 119,917,968 (GRCm39) probably benign Het
Abcb10 A T 8: 124,685,411 (GRCm39) V543D possibly damaging Het
Ankrd17 G A 5: 90,431,057 (GRCm39) T909I probably benign Het
Arhgef3 A G 14: 27,084,799 (GRCm39) N76S probably benign Het
Bbx A T 16: 50,045,278 (GRCm39) C320S probably damaging Het
Castor2 G A 5: 134,164,482 (GRCm39) V148I possibly damaging Het
Cdh23 C A 10: 60,159,302 (GRCm39) V2159F possibly damaging Het
Cmtr2 G A 8: 110,948,136 (GRCm39) A149T probably damaging Het
Cntnap4 A G 8: 113,512,535 (GRCm39) probably benign Het
Col6a3 A T 1: 90,709,482 (GRCm39) F1905I unknown Het
Ddx60 A G 8: 62,428,866 (GRCm39) Y792C possibly damaging Het
Dennd2b A G 7: 109,124,538 (GRCm39) V1101A probably damaging Het
Dock4 T C 12: 40,775,776 (GRCm39) L573P probably damaging Het
Dop1b A G 16: 93,607,005 (GRCm39) I2103V probably benign Het
Ear1 T G 14: 44,056,504 (GRCm39) Q121H probably benign Het
Eprs1 T A 1: 185,119,321 (GRCm39) probably benign Het
Ero1a T C 14: 45,530,619 (GRCm39) K271R probably benign Het
Esyt1 A G 10: 128,348,236 (GRCm39) L884P probably damaging Het
F2r T C 13: 95,741,160 (GRCm39) N125S probably damaging Het
Fam217a T C 13: 35,095,144 (GRCm39) E357G probably damaging Het
Gabbr1 C T 17: 37,365,689 (GRCm39) R123W probably damaging Het
Gimap4 T G 6: 48,667,347 (GRCm39) V34G probably damaging Het
Gm3248 A T 14: 5,943,011 (GRCm38) V180E probably benign Het
Hecw2 A T 1: 53,972,407 (GRCm39) N204K probably damaging Het
Ighv1-84 T A 12: 115,944,549 (GRCm39) K42* probably null Het
Kcnh7 T A 2: 62,536,402 (GRCm39) Q1060L probably damaging Het
Kif3b T A 2: 153,158,868 (GRCm39) I223N probably damaging Het
Lama2 G A 10: 27,088,039 (GRCm39) P913S probably benign Het
Lgr4 A G 2: 109,832,841 (GRCm39) I334M probably damaging Het
Lrrc45 G T 11: 120,609,351 (GRCm39) E403D possibly damaging Het
Mccc2 A G 13: 100,090,747 (GRCm39) L462P probably damaging Het
Mfsd13b T C 7: 120,598,132 (GRCm39) V346A probably damaging Het
Muc6 T C 7: 141,227,763 (GRCm39) T1342A possibly damaging Het
Mxd3 T C 13: 55,477,091 (GRCm39) N56S probably benign Het
Niban2 A G 2: 32,811,135 (GRCm39) I382V probably benign Het
Ntn5 G T 7: 45,343,672 (GRCm39) R337L probably damaging Het
Nynrin A G 14: 56,105,962 (GRCm39) K894E probably benign Het
Or1j4 G T 2: 36,740,715 (GRCm39) G219V probably benign Het
Or2a25 T A 6: 42,889,272 (GRCm39) Y272N probably damaging Het
Or4f56 A C 2: 111,703,887 (GRCm39) S104R possibly damaging Het
Or7e168 A T 9: 19,719,981 (GRCm39) R122S probably damaging Het
Pappa2 T C 1: 158,542,571 (GRCm39) D1772G probably benign Het
Pcdh18 G T 3: 49,710,387 (GRCm39) F309L probably benign Het
Pcdhac2 G T 18: 37,279,006 (GRCm39) R662L probably damaging Het
Ppp5c G A 7: 16,742,555 (GRCm39) S261L possibly damaging Het
Qng1 G A 13: 58,529,749 (GRCm39) R288W probably damaging Het
Rc3h1 T C 1: 160,765,675 (GRCm39) probably benign Het
Rfx8 A C 1: 39,704,682 (GRCm39) S578A possibly damaging Het
Rhbdl3 T G 11: 80,244,507 (GRCm39) *405E probably null Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rragc A G 4: 123,814,879 (GRCm39) R192G possibly damaging Het
Ryr3 A T 2: 112,794,701 (GRCm39) V137E probably damaging Het
S100pbp A T 4: 129,076,234 (GRCm39) D30E probably damaging Het
Smchd1 A T 17: 71,665,128 (GRCm39) probably benign Het
Sppl3 T A 5: 115,220,390 (GRCm39) C101S probably benign Het
St8sia6 T C 2: 13,728,324 (GRCm39) T74A probably benign Het
Sult3a1 A G 10: 33,742,571 (GRCm39) N66S possibly damaging Het
Sv2b T A 7: 74,773,947 (GRCm39) K508M probably damaging Het
Terf1 T C 1: 15,903,626 (GRCm39) S275P probably damaging Het
Tmed8 G T 12: 87,220,990 (GRCm39) H199N probably damaging Het
Tubg2 A T 11: 101,046,971 (GRCm39) Q9L probably damaging Het
Ubxn4 C T 1: 128,183,848 (GRCm39) probably benign Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Zfp213 A G 17: 23,776,945 (GRCm39) S366P possibly damaging Het
Other mutations in Rnf139
AlleleSourceChrCoordTypePredicted EffectPPH 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
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