Incidental Mutation 'R3800:Rnf34'
ID 272920
Institutional Source Beutler Lab
Gene Symbol Rnf34
Ensembl Gene ENSMUSG00000029474
Gene Name ring finger protein 34
Synonyms phafin 1
MMRRC Submission 040759-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R3800 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 122988270-123007008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123002273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 77 (H77R)
Ref Sequence ENSEMBL: ENSMUSP00000143603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031434] [ENSMUST00000198602]
AlphaFold Q99KR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000031434
AA Change: H150R

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031434
Gene: ENSMUSG00000029474
AA Change: H150R

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 damaging
Transcript: ENSMUST00000198602
AA Change: H77R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143603
Gene: ENSMUSG00000029474
AA Change: H77R

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 0.6780 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 95% (52/55)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,385,025 (GRCm39) D313E possibly damaging Het
Abca12 C T 1: 71,305,046 (GRCm39) V2070I probably damaging Het
Adam23 C T 1: 63,590,933 (GRCm39) R467* probably null Het
Adgrf5 T C 17: 43,757,951 (GRCm39) probably benign Het
Aire A G 10: 77,877,889 (GRCm39) probably null Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Arhgap28 T C 17: 68,180,031 (GRCm39) D268G probably damaging Het
Btbd9 T C 17: 30,732,633 (GRCm39) I351V possibly damaging Het
Cacna1b C T 2: 24,548,971 (GRCm39) R1138Q probably benign Het
Caskin1 T G 17: 24,720,246 (GRCm39) V456G probably benign Het
Ccdc96 A G 5: 36,643,611 (GRCm39) D539G probably damaging Het
Cep290 T C 10: 100,408,803 (GRCm39) I2425T probably damaging Het
Cfap251 T C 5: 123,392,784 (GRCm39) probably benign Het
Col18a1 C A 10: 76,903,221 (GRCm39) G998* probably null Het
Cpe A G 8: 65,070,651 (GRCm39) V198A probably benign Het
Cux1 A G 5: 136,344,887 (GRCm39) M364T probably damaging Het
Dock8 T A 19: 25,141,716 (GRCm39) N1396K probably benign Het
Dync2h1 A C 9: 7,101,525 (GRCm39) F482V possibly damaging Het
Eif1ad19 T C 12: 87,740,491 (GRCm39) K23E possibly damaging Het
Fat4 T A 3: 39,035,423 (GRCm39) V3025E possibly damaging Het
Fbn1 T A 2: 125,187,894 (GRCm39) D1545V possibly damaging Het
Fbxw16 T G 9: 109,265,665 (GRCm39) I385L probably damaging Het
Fnbp1 T C 2: 30,923,143 (GRCm39) E341G probably damaging Het
Gm9845 T C 3: 39,412,642 (GRCm39) noncoding transcript Het
Gmps T C 3: 63,889,866 (GRCm39) Y82H possibly damaging Het
Habp4 C T 13: 64,321,917 (GRCm39) R185C probably damaging Het
Ift122 T A 6: 115,902,867 (GRCm39) S1209T probably benign Het
Ino80c T C 18: 24,254,752 (GRCm39) Y36C probably damaging Het
Inpp5b C T 4: 124,679,138 (GRCm39) T515I probably damaging Het
Kcnj6 G A 16: 94,633,886 (GRCm39) T75M probably damaging Het
Map2k4 A T 11: 65,581,607 (GRCm39) Y368* probably null Het
Mbd6 A G 10: 127,121,036 (GRCm39) probably benign Het
Mccc1 G A 3: 36,054,658 (GRCm39) R17W probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Ncoa3 T C 2: 165,901,639 (GRCm39) M1004T possibly damaging Het
Npnt C A 3: 132,612,524 (GRCm39) G87V probably damaging Het
Or10a4 C T 7: 106,696,938 (GRCm39) Q89* probably null Het
Or14j1 T G 17: 38,146,848 (GRCm39) N319K probably benign Het
Ppp2r1a A T 17: 21,182,972 (GRCm39) D552V possibly damaging Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Samm50 T C 15: 84,076,575 (GRCm39) V4A probably damaging Het
Sdccag8 A T 1: 176,695,904 (GRCm39) R403* probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Senp6 A G 9: 79,994,735 (GRCm39) R25G possibly damaging Het
Shc2 C T 10: 79,462,707 (GRCm39) V272I probably benign Het
Smarcd3 T A 5: 24,798,225 (GRCm39) K403* probably null Het
Srgap2 T A 1: 131,238,297 (GRCm39) I672F probably damaging Het
Ttn C T 2: 76,582,941 (GRCm39) V22651I probably damaging Het
Ubash3a T C 17: 31,450,444 (GRCm39) V373A probably benign Het
Vav3 A G 3: 109,535,355 (GRCm39) K36E probably benign Het
Vmn2r65 A G 7: 84,589,738 (GRCm39) V726A possibly damaging Het
Other mutations in Rnf34
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB004:Rnf34 UTSW 5 122,988,288 (GRCm39) start gained probably benign
BB014:Rnf34 UTSW 5 122,988,288 (GRCm39) start gained probably benign
R0612:Rnf34 UTSW 5 123,002,237 (GRCm39) missense probably damaging 1.00
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'- CTGCTGTGACTGCAAGAAGG -3'
(R):5'- GTGCCAGGACTTCTGATCTG -3'

Sequencing Primer
(F):5'- GACTGCAAGAAGGATTTCTGCTCC -3'
(R):5'- ACTTCTGATCTGAAGGCGC -3'
Posted On 2015-03-25