Incidental Mutation 'R0099:Rnf139'
ID 33169
Institutional Source Beutler Lab
Gene Symbol Rnf139
Ensembl Gene ENSMUSG00000037075
Gene Name ring finger protein 139
Synonyms 4930555P18Rik
MMRRC Submission 038385-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R0099 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 15
Chromosomal Location 58760975-58774239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 58771264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 430 (L430I)
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: L430I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046467
Gene: ENSMUSG00000037075
AA Change: L430I

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (65/65)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018M24Rik C T 14: 51,134,179 (GRCm39) probably benign Het
Aadacl2fm1 A C 3: 59,843,856 (GRCm39) K183N probably benign Het
Acad10 A C 5: 121,759,353 (GRCm39) D1043E probably damaging Het
Adamtsl4 C T 3: 95,591,449 (GRCm39) G173R probably benign Het
Astn1 G T 1: 158,329,721 (GRCm39) S192I probably damaging Het
Atg2a T A 19: 6,302,819 (GRCm39) V1010E probably damaging Het
Col11a2 A G 17: 34,268,648 (GRCm39) E311G probably damaging Het
Col4a3 A C 1: 82,695,714 (GRCm39) E1638A probably benign Het
Cstf2t A G 19: 31,061,231 (GRCm39) R256G probably benign Het
Cyp4a12a T C 4: 115,183,869 (GRCm39) L225P probably damaging Het
Dnah5 G A 15: 28,240,080 (GRCm39) R479H probably damaging Het
Dsg3 A G 18: 20,673,079 (GRCm39) I917V probably benign Het
Fam76a G T 4: 132,638,098 (GRCm39) probably benign Het
Fras1 T A 5: 96,762,776 (GRCm39) probably null Het
Gli1 A G 10: 127,171,875 (GRCm39) V293A probably damaging Het
Gm10782 T A 13: 56,510,956 (GRCm39) noncoding transcript Het
Greb1l A G 18: 10,509,158 (GRCm39) E490G probably damaging Het
Hydin G A 8: 111,316,193 (GRCm39) G4362R probably damaging Het
Ica1 A T 6: 8,749,778 (GRCm39) probably benign Het
Ikzf4 T A 10: 128,470,066 (GRCm39) I485F probably damaging Het
Irf5 A G 6: 29,533,966 (GRCm39) T34A probably damaging Het
Krt81 A T 15: 101,361,402 (GRCm39) C59* probably null Het
Kynu T A 2: 43,519,065 (GRCm39) probably null Het
Ly6g6c T C 17: 35,287,891 (GRCm39) V61A probably damaging Het
Manea A C 4: 26,328,104 (GRCm39) I312M probably damaging Het
Micall1 G T 15: 79,016,101 (GRCm39) probably benign Het
Mthfs A T 9: 89,108,216 (GRCm39) probably benign Het
Myh4 A G 11: 67,150,173 (GRCm39) T1877A probably benign Het
Myo3a T C 2: 22,250,409 (GRCm39) I92T probably benign Het
Nepn A G 10: 52,277,181 (GRCm39) S306G probably damaging Het
Nol8 T C 13: 49,826,165 (GRCm39) V995A probably benign Het
Or5b101 A G 19: 13,005,165 (GRCm39) F176S probably damaging Het
Or5b105 T A 19: 13,080,504 (GRCm39) T49S probably benign Het
Or8a1b A T 9: 37,622,750 (GRCm39) V275E probably damaging Het
Or8g4 A G 9: 39,661,957 (GRCm39) I92V possibly damaging Het
Pde1a T A 2: 79,698,657 (GRCm39) probably null Het
Phf14 A G 6: 11,987,696 (GRCm39) probably benign Het
Plekhh2 C T 17: 84,899,100 (GRCm39) Q1026* probably null Het
Polr2b T A 5: 77,468,797 (GRCm39) probably benign Het
Ppp1r36 G T 12: 76,483,056 (GRCm39) probably null Het
Prdm14 A T 1: 13,189,169 (GRCm39) C392S probably damaging Het
Rabgap1l A G 1: 160,509,686 (GRCm39) S436P possibly damaging Het
Rfc2 A T 5: 134,624,135 (GRCm39) probably null Het
Rfx4 A T 10: 84,730,168 (GRCm39) M437L probably benign Het
Rgs17 T A 10: 5,792,583 (GRCm39) R74S probably benign Het
Sgsm1 C A 5: 113,422,226 (GRCm39) probably benign Het
Skint6 T A 4: 112,668,698 (GRCm39) T1126S possibly damaging Het
Slc15a2 T C 16: 36,573,398 (GRCm39) E602G probably damaging Het
Stpg2 T C 3: 138,948,954 (GRCm39) probably benign Het
Sycp2l T C 13: 41,283,001 (GRCm39) probably benign Het
Tlr11 A T 14: 50,598,275 (GRCm39) N87I probably benign Het
Tril A G 6: 53,795,348 (GRCm39) F625L probably damaging Het
Ube3c T A 5: 29,812,062 (GRCm39) V434E probably damaging Het
Usp34 G A 11: 23,313,111 (GRCm39) G533R probably damaging Het
Utp25 A G 1: 192,810,778 (GRCm39) L75P probably damaging Het
Zfp93 G T 7: 23,974,900 (GRCm39) R295L probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGGTTTAAGTGGGCTAAGACCTGAAG -3'
(R):5'- GGTTACACGGTGTTATACGAGCAGATG -3'

Sequencing Primer
(F):5'- ACCTGAAGAGAGACTTATTCGC -3'
(R):5'- TACGAGCAGATGTTGTGAACTC -3'
Posted On 2013-05-09