Incidental Mutation 'R0680:Rnf139'
ID 61767
Institutional Source Beutler Lab
Gene Symbol Rnf139
Ensembl Gene ENSMUSG00000037075
Gene Name ring finger protein 139
Synonyms 4930555P18Rik
MMRRC Submission 038865-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R0680 (G1)
Quality Score 164
Status Not validated
Chromosome 15
Chromosomal Location 58760975-58774239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58771501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 509 (Y509H)
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: Y509H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046467
Gene: ENSMUSG00000037075
AA Change: Y509H

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
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca4a A T 3: 144,675,128 (GRCm39) F167L probably damaging Het
Col6a3 T C 1: 90,706,703 (GRCm39) M2137V unknown Het
Dennd2a A T 6: 39,459,996 (GRCm39) L703Q probably damaging Het
Fsip2 T A 2: 82,821,703 (GRCm39) I5812N possibly damaging Het
Gen1 T A 12: 11,291,870 (GRCm39) S640C probably benign Het
Il9 T C 13: 56,629,693 (GRCm39) T61A probably benign Het
Lrp1 A G 10: 127,425,530 (GRCm39) L700P probably damaging Het
Lyst G A 13: 13,824,926 (GRCm39) V1514I probably benign Het
Med1 A T 11: 98,070,992 (GRCm39) probably null Het
Or14a257 A T 7: 86,138,545 (GRCm39) F71L probably benign Het
Or4c11c A T 2: 88,662,124 (GRCm39) Y221F probably benign Het
Or52n2 A G 7: 104,542,211 (GRCm39) I208T probably benign Het
Or6c69b T A 10: 129,626,687 (GRCm39) Y257F probably damaging Het
Pcdhb18 G C 18: 37,623,347 (GRCm39) A226P probably damaging Het
Pirb T A 7: 3,720,360 (GRCm39) N338Y possibly damaging Het
Rc3h2 A C 2: 37,289,847 (GRCm39) I360R probably damaging Het
Shisa7 T A 7: 4,834,722 (GRCm39) D279V probably benign Het
Shoc1 T C 4: 59,043,967 (GRCm39) D1449G probably benign Het
Slc6a3 T C 13: 73,686,846 (GRCm39) L71P probably damaging Het
Slc9a5 T A 8: 106,082,539 (GRCm39) L268Q probably null Het
St7 T C 6: 17,942,732 (GRCm39) S563P probably damaging Het
Stx1b A G 7: 127,406,895 (GRCm39) V240A possibly damaging Het
Sugt1 A G 14: 79,847,751 (GRCm39) I200M possibly damaging Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Tut7 G A 13: 59,948,413 (GRCm39) T636I possibly damaging Het
Ube4a T A 9: 44,859,358 (GRCm39) Q380L probably damaging Het
Ugt1a2 A G 1: 88,128,933 (GRCm39) Y192C probably damaging Het
Ulbp3 T A 10: 3,075,133 (GRCm39) noncoding transcript Het
Unc93b1 G A 19: 3,997,093 (GRCm39) V505I probably benign Het
Usp29 T C 7: 6,965,884 (GRCm39) S576P possibly damaging Het
Vcan A T 13: 89,827,941 (GRCm39) H2208Q probably damaging Het
Zfp106 T A 2: 120,357,497 (GRCm39) S1133C probably damaging Het
Zfp148 A G 16: 33,316,174 (GRCm39) D282G possibly damaging Het
Zswim9 A C 7: 12,994,248 (GRCm39) V636G 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
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
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'- GCTTGAAGGTAATCGTCTCCCTCAC -3'
(R):5'- TGTACAGCCATTTCCGAAGGCAG -3'

Sequencing Primer
(F):5'- GATGGCTACTATAACGTCCTCTGG -3'
(R):5'- CATTTCCGAAGGCAGAGTGC -3'
Posted On 2013-07-30