Incidental Mutation 'IGL02078:Rnf139'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf139
Ensembl Gene ENSMUSG00000037075
Gene Namering finger protein 139
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.180) question?
Stock #IGL02078
Quality Score
Chromosomal Location58889229-58907057 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58900031 bp
Amino Acid Change Aspartic acid to Glycine at position 635 (D635G)
Ref Sequence ENSEMBL: ENSMUSP00000046467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036904] [ENSMUST00000110155] [ENSMUST00000226707] [ENSMUST00000227540] [ENSMUST00000228538] [ENSMUST00000228787]
Predicted Effect possibly damaging
Transcript: ENSMUST00000036904
AA Change: D635G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046467
Gene: ENSMUSG00000037075
AA Change: D635G

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

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A C 4: 42,972,685 K673Q possibly damaging Het
4933412E24Rik T C 15: 60,016,330 D87G probably benign Het
Acap1 C T 11: 69,895,286 R18Q probably damaging Het
Atp1a1 A C 3: 101,591,863 V140G probably damaging Het
Bmpr1b G A 3: 141,870,737 P112S possibly damaging Het
Chst8 T A 7: 34,675,334 N360I possibly damaging Het
Cldn23 A T 8: 35,826,205 V43E possibly damaging Het
Clta T C 4: 44,030,232 F168S probably damaging Het
Cyp2c40 T C 19: 39,767,482 I463V probably benign Het
E2f2 A G 4: 136,193,012 D436G probably damaging Het
Fbxo24 T G 5: 137,624,349 T52P probably damaging Het
Gria4 G A 9: 4,793,878 A60V probably damaging Het
Grm1 C T 10: 10,689,610 V985M probably benign Het
Hexa A G 9: 59,557,303 T159A probably benign Het
Inf2 T A 12: 112,601,614 V200E probably damaging Het
Kif20b T A 19: 34,935,644 V319E probably damaging Het
Klhl10 A G 11: 100,445,751 D188G probably benign Het
Mobp G A 9: 120,167,914 R37H probably damaging Het
Mybpc2 T A 7: 44,503,780 D1086V probably damaging Het
Nadk A C 4: 155,579,403 probably benign Het
Olfr853 T A 9: 19,537,453 H159L probably benign Het
Per1 A G 11: 69,104,299 E619G probably damaging Het
Rab3gap1 G A 1: 127,868,915 probably benign Het
Rimkla A G 4: 119,468,147 L355P probably damaging Het
Sall1 T A 8: 89,030,375 N1034Y probably damaging Het
Serpinb13 A T 1: 106,998,958 Q228L probably damaging Het
Sin3b G T 8: 72,753,580 M903I possibly damaging Het
Slco1a5 A T 6: 142,254,446 M204K probably benign Het
Smo A G 6: 29,754,708 D259G possibly damaging Het
Sult2a4 T C 7: 13,989,544 I15M probably benign Het
Ttn T A 2: 76,942,441 probably null Het
Wdtc1 C A 4: 133,305,960 D176Y probably damaging Het
Other mutations in Rnf139
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Rnf139 APN 15 58898542 missense possibly damaging 0.75
IGL01288:Rnf139 APN 15 58899179 missense probably damaging 1.00
IGL01290:Rnf139 APN 15 58898326 missense probably benign
IGL02302:Rnf139 APN 15 58898757 missense probably damaging 0.99
IGL03029:Rnf139 APN 15 58899118 missense probably damaging 1.00
IGL03355:Rnf139 APN 15 58900032 missense probably benign 0.05
R0099:Rnf139 UTSW 15 58899415 missense probably damaging 1.00
R0158:Rnf139 UTSW 15 58898878 missense probably benign
R0331:Rnf139 UTSW 15 58899906 missense probably benign 0.01
R0334:Rnf139 UTSW 15 58899473 missense probably damaging 1.00
R0606:Rnf139 UTSW 15 58899827 missense probably damaging 1.00
R0680:Rnf139 UTSW 15 58899652 missense probably damaging 1.00
R1338:Rnf139 UTSW 15 58899215 missense probably damaging 0.97
R1524:Rnf139 UTSW 15 58889417 missense probably damaging 0.99
R1528:Rnf139 UTSW 15 58899215 missense probably damaging 0.97
R1577:Rnf139 UTSW 15 58899518 missense probably damaging 1.00
R1870:Rnf139 UTSW 15 58899353 missense probably benign 0.00
R1889:Rnf139 UTSW 15 58899497 missense probably damaging 1.00
R4647:Rnf139 UTSW 15 58899987 missense probably benign 0.11
R4992:Rnf139 UTSW 15 58898476 nonsense probably null
R5088:Rnf139 UTSW 15 58899941 missense possibly damaging 0.74
R5246:Rnf139 UTSW 15 58899703 missense probably damaging 1.00
R5982:Rnf139 UTSW 15 58898838 missense possibly damaging 0.76
R5984:Rnf139 UTSW 15 58898746 missense probably benign 0.41
Posted On2015-04-16