Incidental Mutation 'IGL02302: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: 0.187) question?
Stock #IGL02302
Quality Score
Chromosomal Location58889229-58907057 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 58898757 bp
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]
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

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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,383,098 Q211L possibly damaging Het
2210016F16Rik G A 13: 58,381,935 R288W probably damaging Het
Abca14 T A 7: 120,318,745 probably benign Het
Abcb10 A T 8: 123,958,672 V543D possibly damaging Het
Ankrd17 G A 5: 90,283,198 T909I probably benign Het
Arhgef3 A G 14: 27,362,842 N76S probably benign Het
Bbx A T 16: 50,224,915 C320S probably damaging Het
Cdh23 C A 10: 60,323,523 V2159F possibly damaging Het
Cmtr2 G A 8: 110,221,504 A149T probably damaging Het
Cntnap4 A G 8: 112,785,903 probably benign Het
Col6a3 A T 1: 90,781,760 F1905I unknown Het
Ddx60 A G 8: 61,975,832 Y792C possibly damaging Het
Dock4 T C 12: 40,725,777 L573P probably damaging Het
Dopey2 A G 16: 93,810,117 I2103V probably benign Het
Ear1 T G 14: 43,819,047 Q121H probably benign Het
Eprs T A 1: 185,387,124 probably benign Het
Ero1l T C 14: 45,293,162 K271R probably benign Het
Esyt1 A G 10: 128,512,367 L884P probably damaging Het
F2r T C 13: 95,604,652 N125S probably damaging Het
Fam129b A G 2: 32,921,123 I382V probably benign Het
Fam217a T C 13: 34,911,161 E357G probably damaging Het
Gabbr1 C T 17: 37,054,797 R123W probably damaging Het
Gatsl2 G A 5: 134,135,643 V148I possibly damaging Het
Gimap4 T G 6: 48,690,413 V34G probably damaging Het
Gm3248 A T 14: 5,943,011 V180E probably benign Het
Hecw2 A T 1: 53,933,248 N204K probably damaging Het
Ighv1-84 T A 12: 115,980,929 K42* probably null Het
Kcnh7 T A 2: 62,706,058 Q1060L probably damaging Het
Kif3b T A 2: 153,316,948 I223N probably damaging Het
Lama2 G A 10: 27,212,043 P913S probably benign Het
Lgr4 A G 2: 110,002,496 I334M probably damaging Het
Lrrc45 G T 11: 120,718,525 E403D possibly damaging Het
Mccc2 A G 13: 99,954,239 L462P probably damaging Het
Mfsd13b T C 7: 120,998,909 V346A probably damaging Het
Muc6 T C 7: 141,641,496 T1342A possibly damaging Het
Mxd3 T C 13: 55,329,278 N56S probably benign Het
Ntn5 G T 7: 45,694,248 R337L probably damaging Het
Nynrin A G 14: 55,868,505 K894E probably benign Het
Olfr1305 A C 2: 111,873,542 S104R possibly damaging Het
Olfr350 G T 2: 36,850,703 G219V probably benign Het
Olfr447 T A 6: 42,912,338 Y272N probably damaging Het
Olfr859 A T 9: 19,808,685 R122S probably damaging Het
Pappa2 T C 1: 158,715,001 D1772G probably benign Het
Pcdh18 G T 3: 49,755,938 F309L probably benign Het
Pcdhac2 G T 18: 37,145,953 R662L probably damaging Het
Ppp5c G A 7: 17,008,630 S261L possibly damaging Het
Rc3h1 T C 1: 160,938,105 probably benign Het
Rfx8 A C 1: 39,665,522 S578A possibly damaging Het
Rhbdl3 T G 11: 80,353,681 *405E probably null Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rragc A G 4: 123,921,086 R192G possibly damaging Het
Ryr3 A T 2: 112,964,356 V137E probably damaging Het
S100pbp A T 4: 129,182,441 D30E probably damaging Het
Smchd1 A T 17: 71,358,133 probably benign Het
Sppl3 T A 5: 115,082,331 C101S probably benign Het
St5 A G 7: 109,525,331 V1101A probably damaging Het
St8sia6 T C 2: 13,723,513 T74A probably benign Het
Sult3a1 A G 10: 33,866,575 N66S possibly damaging Het
Sv2b T A 7: 75,124,199 K508M probably damaging Het
Terf1 T C 1: 15,833,402 S275P probably damaging Het
Tmed8 G T 12: 87,174,216 H199N probably damaging Het
Tubg2 A T 11: 101,156,145 Q9L probably damaging Het
Ubxn4 C T 1: 128,256,111 probably benign Het
Usp34 C T 11: 23,467,243 T2964I possibly damaging Het
Zfp213 A G 17: 23,557,971 S366P possibly 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
IGL02078:Rnf139 APN 15 58900031 missense possibly damaging 0.94
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