Incidental Mutation 'R9507:Rnf139'
ID 717898
Institutional Source Beutler Lab
Gene Symbol Rnf139
Ensembl Gene ENSMUSG00000037075
Gene Name ring finger protein 139
Synonyms 4930555P18Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R9507 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 58760975-58774239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58770664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 230 (K230E)
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: K230E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046467
Gene: ENSMUSG00000037075
AA Change: K230E

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 probably benign
Transcript: ENSMUST00000227540
Predicted Effect probably benign
Transcript: ENSMUST00000228538
Predicted Effect probably benign
Transcript: ENSMUST00000228787
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik A G 19: 8,866,587 (GRCm39) T47A probably damaging Het
Acsm2 A T 7: 119,179,939 (GRCm39) I386F probably benign Het
Actn4 A T 7: 28,606,397 (GRCm39) D305E probably benign Het
Anln A G 9: 22,274,136 (GRCm39) V567A probably damaging Het
Arhgap35 A G 7: 16,297,343 (GRCm39) I574T probably benign Het
Baz1b C A 5: 135,233,971 (GRCm39) S166Y probably damaging Het
Ccdc191 T C 16: 43,764,192 (GRCm39) L551P probably damaging Het
Cdk5rap2 T C 4: 70,210,110 (GRCm39) T713A probably benign Het
Cep290 C A 10: 100,330,785 (GRCm39) A155E possibly damaging Het
Chst8 G A 7: 34,447,496 (GRCm39) Q41* probably null Het
Cyp2j6 C A 4: 96,406,344 (GRCm39) E476* probably null Het
Des T C 1: 75,343,434 (GRCm39) V439A probably benign Het
Dimt1 A G 13: 107,093,656 (GRCm39) T283A probably benign Het
Dmxl1 T A 18: 50,024,567 (GRCm39) V1747D possibly damaging Het
Fhod1 G A 8: 106,064,694 (GRCm39) R137* probably null Het
Gab2 A T 7: 96,953,448 (GRCm39) D608V probably damaging Het
Gdpd1 T C 11: 86,950,264 (GRCm39) D103G possibly damaging Het
Hspa5 T C 2: 34,664,610 (GRCm39) S355P probably benign Het
Ide A T 19: 37,265,536 (GRCm39) F619L Het
Ifrd1 A C 12: 40,267,225 (GRCm39) D70E probably benign Het
Il18r1 T A 1: 40,513,884 (GRCm39) V30E probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcng1 A G 2: 168,111,152 (GRCm39) L4S probably damaging Het
Lrfn4 A G 19: 4,664,357 (GRCm39) F59S probably damaging Het
Lrrc15 T C 16: 30,092,829 (GRCm39) D170G probably damaging Het
Mettl21e T A 1: 44,245,536 (GRCm39) M237L probably benign Het
Myh1 A G 11: 67,102,049 (GRCm39) K810E probably benign Het
Nbea T C 3: 55,573,011 (GRCm39) D2524G probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nutm2 A T 13: 50,621,455 (GRCm39) T7S probably benign Het
Or10g3b A T 14: 52,586,678 (GRCm39) L275H probably damaging Het
Or2a5 G T 6: 42,873,835 (GRCm39) C150F probably benign Het
Or2t49 T C 11: 58,392,576 (GRCm39) T275A possibly damaging Het
Or51q1 T G 7: 103,629,198 (GRCm39) F266L probably damaging Het
Or6k2 T A 1: 173,986,552 (GRCm39) I71K possibly damaging Het
Or7a39 A G 10: 78,715,597 (GRCm39) H197R probably benign Het
Pate4 A G 9: 35,519,538 (GRCm39) S51P probably damaging Het
Rbm19 T C 5: 120,265,232 (GRCm39) probably null Het
Rpia G A 6: 70,754,377 (GRCm39) Q134* probably null Het
Rsf1 GC GCGGCGGCGCC 7: 97,229,141 (GRCm39) probably benign Het
Sbk2 G A 7: 4,960,277 (GRCm39) P298S possibly damaging Het
Scrt1 A G 15: 76,403,292 (GRCm39) S233P unknown Het
Sh2b1 CGGGGACCAGCTC CGGGGACCAGCTCAGCCAAGGGGACCAGCTC 7: 126,066,760 (GRCm39) probably benign Het
Sppl2c T A 11: 104,078,153 (GRCm39) Y318N probably benign Het
St6galnac4 G A 2: 32,485,739 (GRCm39) W215* probably null Het
Stxbp6 A G 12: 45,066,360 (GRCm39) L15P probably benign Het
Tmem104 T C 11: 115,091,699 (GRCm39) L74P probably damaging Het
Tnfrsf10b A G 14: 70,015,221 (GRCm39) D233G probably benign Het
Trmt11 A C 10: 30,434,938 (GRCm39) Y369* probably null Het
Tusc1 T A 4: 93,223,245 (GRCm39) H138L probably benign Het
Ush2a T A 1: 188,596,937 (GRCm39) Y3892* probably null Het
Xirp2 A T 2: 67,344,280 (GRCm39) I2174F possibly damaging Het
Zfp947 C T 17: 22,364,582 (GRCm39) G364D 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
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
Predicted Primers PCR Primer
(F):5'- TAATTGGCTTAATCACAGAGCTGC -3'
(R):5'- GCACTCATGCCTAGTACAGTTAG -3'

Sequencing Primer
(F):5'- GGCTTAATCACAGAGCTGCCATTAC -3'
(R):5'- GTACAGTTAGTGTAGAATCACACCC -3'
Posted On 2022-07-18