Incidental Mutation 'R9120:Rnf139'
ID 692747
Institutional Source Beutler Lab
Gene Symbol Rnf139
Ensembl Gene ENSMUSG00000037075
Gene Name ring finger protein 139
Synonyms 4930555P18Rik
MMRRC Submission 068923-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R9120 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 58760975-58774239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58771685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 570 (L570P)
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: L570P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046467
Gene: ENSMUSG00000037075
AA Change: L570P

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (54/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,209,141 (GRCm39) probably benign Het
Adgrb2 A G 4: 129,906,302 (GRCm39) N910S possibly damaging Het
Arhgap24 A T 5: 103,040,016 (GRCm39) I411F probably benign Het
BC030500 T A 8: 59,365,911 (GRCm39) L15Q unknown Het
BC051665 A G 13: 60,932,916 (GRCm39) V15A probably benign Het
Bicc1 T C 10: 70,776,862 (GRCm39) D732G probably damaging Het
Bpifb1 A G 2: 154,046,692 (GRCm39) I71V probably benign Het
Btnl1 A T 17: 34,598,681 (GRCm39) Q99L possibly damaging Het
Castor1 T A 11: 4,170,767 (GRCm39) V196D possibly damaging Het
Col9a2 G T 4: 120,900,951 (GRCm39) probably benign Het
D7Ertd443e T A 7: 133,871,986 (GRCm39) D625V probably damaging Het
Dchs2 A T 3: 83,187,535 (GRCm39) D1327V probably damaging Het
Ddx1 A G 12: 13,275,458 (GRCm39) V543A possibly damaging Het
Dgkz G T 2: 91,768,545 (GRCm39) D714E probably benign Het
Dlk1 A G 12: 109,424,051 (GRCm39) D105G probably benign Het
Fndc3a A G 14: 72,802,133 (GRCm39) F557L probably benign Het
Gm28042 C T 2: 119,869,462 (GRCm39) L609F probably damaging Het
Gsap A G 5: 21,458,434 (GRCm39) I473V probably damaging Het
Jag1 A T 2: 136,930,354 (GRCm39) M730K probably benign Het
Kazald1 A T 19: 45,065,211 (GRCm39) T31S probably benign Het
Ldhb A G 6: 142,439,935 (GRCm39) W202R probably damaging Het
Lrrcc1 C T 3: 14,615,489 (GRCm39) Q528* probably null Het
Magi2 A T 5: 20,733,305 (GRCm39) K525I possibly damaging Het
Map2 A G 1: 66,453,218 (GRCm39) I703V probably damaging Het
Mdn1 A T 4: 32,701,814 (GRCm39) M1516L probably damaging Het
Mpzl2 T A 9: 44,958,583 (GRCm39) S186R probably benign Het
Mtif2 T C 11: 29,483,951 (GRCm39) M208T probably benign Het
Myo3a T C 2: 22,436,464 (GRCm39) V873A probably benign Het
Or10ac1 A C 6: 42,515,583 (GRCm39) Y124* probably null Het
Or1j4 T A 2: 36,740,143 (GRCm39) Y28* probably null Het
Or5d38 A G 2: 87,955,123 (GRCm39) S69P probably damaging Het
Or5p6 T C 7: 107,630,887 (GRCm39) Y221C probably damaging Het
Or8g51 A G 9: 38,608,735 (GRCm39) F309S probably benign Het
Pgap4 A G 4: 49,587,093 (GRCm39) V25A probably benign Het
Plod2 G T 9: 92,424,380 (GRCm39) probably benign Het
Rgs14 A C 13: 55,528,792 (GRCm39) D311A probably damaging Het
Rin1 C A 19: 5,103,048 (GRCm39) P446T probably damaging Het
Ripor3 T C 2: 167,822,835 (GRCm39) K909E possibly damaging Het
Snx17 A G 5: 31,355,026 (GRCm39) E347G probably damaging Het
Spaca1 A G 4: 34,029,168 (GRCm39) S220P probably damaging Het
Spen G T 4: 141,200,233 (GRCm39) T2798K Het
Tacc1 G T 8: 25,659,255 (GRCm39) S570R probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Trim63 G A 4: 134,055,003 (GRCm39) probably benign Het
Trmt2a C A 16: 18,067,722 (GRCm39) R132S probably damaging Het
Ttn T C 2: 76,768,716 (GRCm39) E2952G unknown Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn1r211 A T 13: 23,035,936 (GRCm39) F244I probably damaging Het
Vmn2r86 T G 10: 130,289,677 (GRCm39) S73R probably benign Het
Wdr27 A G 17: 15,152,846 (GRCm39) L87P probably damaging Het
Zfp148 A G 16: 33,317,596 (GRCm39) N756S probably benign Het
Zfp57 G A 17: 37,320,650 (GRCm39) R168H 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
R9507:Rnf139 UTSW 15 58,770,664 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGAAGTAAAATTCGGGCTTGTATG -3'
(R):5'- AGATCCAGCAGCATCCTCTC -3'

Sequencing Primer
(F):5'- AAAATTCGGGCTTGTATGATGTGCC -3'
(R):5'- GATCCAGCAGCATCCTCTCTTAAAG -3'
Posted On 2021-12-30