Incidental Mutation 'BB014:Rnf34'
ID 642803
Institutional Source Beutler Lab
Gene Symbol Rnf34
Ensembl Gene ENSMUSG00000029474
Gene Name ring finger protein 34
Synonyms phafin 1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # BB014
Quality Score 201.009
Status Not validated
Chromosome 5
Chromosomal Location 122988270-123007008 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to A at 122988288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031434] [ENSMUST00000198602]
AlphaFold Q99KR6
Predicted Effect probably benign
Transcript: ENSMUST00000031434
SMART Domains Protein: ENSMUSP00000031434
Gene: ENSMUSG00000029474

DomainStartEndE-ValueType
PDB:1Y02|A 47 148 5e-21 PDB
Blast:RING 62 102 5e-17 BLAST
low complexity region 151 182 N/A INTRINSIC
low complexity region 222 246 N/A INTRINSIC
low complexity region 250 265 N/A INTRINSIC
RING 329 363 7.98e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198602
SMART Domains Protein: ENSMUSP00000143603
Gene: ENSMUSG00000029474

DomainStartEndE-ValueType
Blast:RING 2 29 5e-9 BLAST
PDB:1Y02|A 2 75 2e-18 PDB
low complexity region 78 105 N/A INTRINSIC
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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 contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,123,539 (GRCm39) M111T probably benign Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agrn C T 4: 156,257,266 (GRCm39) G1188D probably damaging Het
Amz2 A G 11: 109,319,884 (GRCm39) K90R probably damaging Het
Arhgef4 G T 1: 34,846,334 (GRCm39) Q227H probably damaging Het
B4galt3 T A 1: 171,099,342 (GRCm39) C10* probably null Het
Banf2 T A 2: 143,915,718 (GRCm39) M53K probably benign Het
BC034090 A T 1: 155,117,371 (GRCm39) L249* probably null Het
Cftr A G 6: 18,267,970 (GRCm39) D673G possibly damaging Het
Cntnap2 G T 6: 47,072,621 (GRCm39) C1063F possibly damaging Het
Cstpp1 T A 2: 91,252,250 (GRCm39) D37V probably damaging Het
Dnah3 A G 7: 119,550,494 (GRCm39) I296T probably damaging Het
Dpy19l2 A G 9: 24,607,197 (GRCm39) V88A probably benign Het
Fbln5 T C 12: 101,784,647 (GRCm39) probably benign Het
Fbn1 T C 2: 125,225,656 (GRCm39) D532G possibly damaging Het
Fnta G A 8: 26,494,454 (GRCm39) R258* probably null Het
Gch1 G A 14: 47,393,380 (GRCm39) H201Y probably damaging Het
Grik2 A T 10: 49,116,890 (GRCm39) S624T probably damaging Het
Grm5 T A 7: 87,685,382 (GRCm39) S500T probably benign Het
Hmcn1 T A 1: 150,485,526 (GRCm39) I4359F probably damaging Het
Hrc T A 7: 44,985,477 (GRCm39) H209Q possibly damaging Het
Hsd17b14 T C 7: 45,215,395 (GRCm39) M164T probably damaging Het
Hydin T C 8: 111,307,476 (GRCm39) F3952L possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lig4 A T 8: 10,023,629 (GRCm39) H50Q possibly damaging Het
Lrp6 G T 6: 134,497,513 (GRCm39) R165S probably damaging Het
Muc4 A G 16: 32,592,011 (GRCm39) T958A Het
Myo19 A G 11: 84,791,046 (GRCm39) E419G probably damaging Het
Ndufa5 A G 6: 24,527,291 (GRCm39) V16A possibly damaging Het
Or10a2 T C 7: 106,673,496 (GRCm39) F154L probably benign Het
Phf24 A C 4: 42,934,774 (GRCm39) T137P probably damaging Het
Pkp4 A T 2: 59,142,098 (GRCm39) N467I probably damaging Het
Pramel25 T A 4: 143,519,536 (GRCm39) I99N probably benign Het
Rbm12b2 C T 4: 12,095,417 (GRCm39) R759C possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCAGCGGCGGC 7: 97,229,131 (GRCm39) probably benign Het
Scaf8 T A 17: 3,209,495 (GRCm39) S73T unknown Het
Scn4a T A 11: 106,233,209 (GRCm39) E454D probably damaging Het
Serpina1e A G 12: 103,917,450 (GRCm39) V73A probably benign Het
Sh3rf2 A G 18: 42,244,487 (GRCm39) T350A probably benign Het
Slc35a1 A G 4: 34,669,021 (GRCm39) V264A probably damaging Het
Slf2 A G 19: 44,923,740 (GRCm39) K185E probably damaging Het
Spmip8 T A 8: 96,039,786 (GRCm39) S68T probably benign Het
Spsb2 T C 6: 124,786,336 (GRCm39) F23S probably benign Het
Ssx2ip T G 3: 146,138,365 (GRCm39) L404R probably damaging Het
Strn4 T A 7: 16,560,556 (GRCm39) L236Q probably null Het
Tcp10b A G 17: 13,288,579 (GRCm39) T202A probably benign Het
Tdp1 G T 12: 99,878,555 (GRCm39) V448L probably damaging Het
Tecrl T C 5: 83,502,666 (GRCm39) E61G probably damaging Het
Trim50 T C 5: 135,382,465 (GRCm39) F106L probably benign Het
Usp5 G T 6: 124,801,192 (GRCm39) F224L probably benign Het
Vmn2r45 C A 7: 8,486,513 (GRCm39) M258I probably benign Het
Zfp574 T A 7: 24,779,572 (GRCm39) V198E probably benign Het
Zmym4 A G 4: 126,799,170 (GRCm39) I722T probably benign Het
Other mutations in Rnf34
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB004:Rnf34 UTSW 5 122,988,288 (GRCm39) start gained probably benign
R0612:Rnf34 UTSW 5 123,002,237 (GRCm39) missense probably damaging 1.00
R3800:Rnf34 UTSW 5 123,002,273 (GRCm39) missense probably damaging 0.99
R4823:Rnf34 UTSW 5 122,988,365 (GRCm39) splice site probably null
R5724:Rnf34 UTSW 5 123,004,952 (GRCm39) nonsense probably null
R5881:Rnf34 UTSW 5 123,002,146 (GRCm39) missense probably damaging 1.00
R6399:Rnf34 UTSW 5 122,999,839 (GRCm39) missense probably benign 0.00
R7927:Rnf34 UTSW 5 122,988,288 (GRCm39) start gained probably benign
R8853:Rnf34 UTSW 5 123,002,087 (GRCm39) missense possibly damaging 0.85
R9114:Rnf34 UTSW 5 122,999,957 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAAGCCAATTCAGCCTGAG -3'
(R):5'- TACGTGGTGGTCTCTCACGAAG -3'

Sequencing Primer
(F):5'- TTCGCTCGCAAGACTGC -3'
(R):5'- TCTCACGAAGCCCCTCTGG -3'
Posted On 2020-08-01