Incidental Mutation 'R4730:Rnf4'
ID 358745
Institutional Source Beutler Lab
Gene Symbol Rnf4
Ensembl Gene ENSMUSG00000029110
Gene Name ring finger protein 4
Synonyms Gtrgeo8
MMRRC Submission 041990-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4730 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 34493594-34510789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34508147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 134 (V134F)
Ref Sequence ENSEMBL: ENSMUSP00000138555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030992] [ENSMUST00000182047] [ENSMUST00000182583] [ENSMUST00000182709]
AlphaFold Q9QZS2
Predicted Effect possibly damaging
Transcript: ENSMUST00000030992
AA Change: V134F

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030992
Gene: ENSMUSG00000029110
AA Change: V134F

DomainStartEndE-ValueType
low complexity region 77 88 N/A INTRINSIC
RING 136 180 2.65e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181999
Predicted Effect possibly damaging
Transcript: ENSMUST00000182047
AA Change: V134F

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138411
Gene: ENSMUSG00000029110
AA Change: V134F

DomainStartEndE-ValueType
low complexity region 77 88 N/A INTRINSIC
RING 136 180 2.65e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182583
SMART Domains Protein: ENSMUSP00000138594
Gene: ENSMUSG00000029110

DomainStartEndE-ValueType
low complexity region 77 88 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000182709
AA Change: V134F

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138555
Gene: ENSMUSG00000029110
AA Change: V134F

DomainStartEndE-ValueType
low complexity region 77 88 N/A INTRINSIC
RING 136 180 2.65e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182772
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183265
Meta Mutation Damage Score 0.2811 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: This gene encodes a small nuclear RING finger protein that mediates ubiquitylation of polysumoylated proteins. Deficiency of the encoded protein in mice leads to embryonic lethality and global DNA hypermethylation. A similar protein in humans is required for arsenic-induced degradation of promyelocytic leukemia protein in acute promyelocytic leukemia. Alternative splicing of this gene results in multiple transcript variants. A pseudogene for this gene has been identified on chromosome 10. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null mutation display lethality throughout fetal growth and development with ventricular septal defects and cardiac insufficiency. MEFs from homozygous mice display global DNA hypermethylation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 A G 5: 103,990,939 (GRCm39) Q963R possibly damaging Het
Arhgef28 C T 13: 98,114,650 (GRCm39) E645K probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Col4a2 A G 8: 11,487,590 (GRCm39) N964S probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Duox1 T G 2: 122,164,312 (GRCm39) L924R probably damaging Het
Edem2 T C 2: 155,547,618 (GRCm39) E398G possibly damaging Het
Engase A G 11: 118,373,748 (GRCm39) N297D probably damaging Het
Esp4 A C 17: 40,913,445 (GRCm39) Y104S unknown Het
Esp4 C A 17: 40,913,446 (GRCm39) Y104* probably null Het
Fat1 A T 8: 45,486,514 (GRCm39) N3356I probably damaging Het
Gm3867 T A 9: 36,168,550 (GRCm39) noncoding transcript Het
Gm6818 C T 7: 38,101,918 (GRCm39) noncoding transcript Het
Grip2 T C 6: 91,762,693 (GRCm39) *175W probably null Het
Gucy1b2 A G 14: 62,645,208 (GRCm39) V617A probably damaging Het
Gzmc C T 14: 56,469,089 (GRCm39) C210Y probably damaging Het
Hmg20a T A 9: 56,374,703 (GRCm39) S20T possibly damaging Het
Hs3st1 A T 5: 39,772,148 (GRCm39) L165* probably null Het
Ighv1-26 A G 12: 114,752,409 (GRCm39) I6T probably benign Het
Kcnk13 A G 12: 100,027,974 (GRCm39) K350E probably damaging Het
Lin9 T A 1: 180,493,416 (GRCm39) L198* probably null Het
Lrfn5 C T 12: 61,887,505 (GRCm39) A431V probably benign Het
Lta C T 17: 35,423,065 (GRCm39) R86Q probably benign Het
Map3k4 T A 17: 12,467,861 (GRCm39) I1058L probably damaging Het
Mtif2 T A 11: 29,490,834 (GRCm39) S513T probably benign Het
Muc4 C T 16: 32,570,032 (GRCm39) T364I possibly damaging Het
Nav1 C A 1: 135,535,049 (GRCm39) probably benign Het
Nfrkb T C 9: 31,321,547 (GRCm39) V748A probably benign Het
Obox6 A T 7: 15,568,738 (GRCm39) M46K possibly damaging Het
Or5g25 T C 2: 85,478,336 (GRCm39) T110A probably benign Het
Or5k1b T C 16: 58,581,105 (GRCm39) I145V probably benign Het
Or5t17 C T 2: 86,832,510 (GRCm39) R66W possibly damaging Het
Or6c33 G A 10: 129,853,416 (GRCm39) R62Q probably damaging Het
Or9g19 G T 2: 85,600,405 (GRCm39) E87* probably null Het
P4htm A G 9: 108,456,971 (GRCm39) V412A possibly damaging Het
Phb2 T C 6: 124,690,086 (GRCm39) S92P probably damaging Het
Phtf1 G T 3: 103,894,751 (GRCm39) R147L probably damaging Het
Pigk C T 3: 152,448,203 (GRCm39) Q189* probably null Het
Plxnc1 G A 10: 94,703,330 (GRCm39) probably benign Het
Prrx1 A G 1: 163,140,182 (GRCm39) V8A probably benign Het
Ptprg G A 14: 12,213,713 (GRCm38) G252D probably damaging Het
Scarf2 A G 16: 17,620,877 (GRCm39) T182A probably damaging Het
Setd1a A G 7: 127,396,502 (GRCm39) probably benign Het
Sgpp1 A G 12: 75,781,713 (GRCm39) F209L probably benign Het
Sh3d19 T A 3: 86,024,171 (GRCm39) S567T possibly damaging Het
Slc4a2 C T 5: 24,639,878 (GRCm39) R520W probably damaging Het
Slf1 T C 13: 77,194,751 (GRCm39) Q858R probably damaging Het
Slitrk3 G T 3: 72,956,852 (GRCm39) A640E probably benign Het
Smarca2 A G 19: 26,608,073 (GRCm39) Y44C probably damaging Het
Spon1 A G 7: 113,632,306 (GRCm39) E543G possibly damaging Het
Strn4 A G 7: 16,562,719 (GRCm39) Q286R possibly damaging Het
Suz12 T C 11: 79,892,988 (GRCm39) probably benign Het
Syna T A 5: 134,587,440 (GRCm39) E503V probably damaging Het
Syt14 C T 1: 192,613,094 (GRCm39) D569N probably damaging Het
Sytl2 A G 7: 90,030,457 (GRCm39) probably benign Het
Tmprss11g G T 5: 86,637,091 (GRCm39) S335* probably null Het
Tmprss11g A T 5: 86,637,092 (GRCm39) S335T probably damaging Het
Trim66 A G 7: 109,082,276 (GRCm39) S226P probably damaging Het
Tubgcp3 T C 8: 12,707,654 (GRCm39) T112A probably benign Het
Ulk4 T C 9: 121,092,791 (GRCm39) S149G probably benign Het
Usp53 T C 3: 122,756,582 (GRCm39) D108G probably null Het
Vmn1r91 A T 7: 19,835,695 (GRCm39) T205S possibly damaging Het
Other mutations in Rnf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01926:Rnf4 APN 5 34,504,123 (GRCm39) missense probably benign 0.01
IGL02740:Rnf4 APN 5 34,506,898 (GRCm39) missense possibly damaging 0.93
IGL03350:Rnf4 APN 5 34,504,204 (GRCm39) missense possibly damaging 0.88
R1318:Rnf4 UTSW 5 34,508,590 (GRCm39) missense probably damaging 0.99
R1669:Rnf4 UTSW 5 34,508,624 (GRCm39) missense probably damaging 1.00
R4456:Rnf4 UTSW 5 34,508,705 (GRCm39) missense probably benign 0.27
R4457:Rnf4 UTSW 5 34,508,705 (GRCm39) missense probably benign 0.27
R4842:Rnf4 UTSW 5 34,506,053 (GRCm39) missense probably damaging 1.00
R5035:Rnf4 UTSW 5 34,508,683 (GRCm39) missense probably damaging 0.99
R6083:Rnf4 UTSW 5 34,508,565 (GRCm39) splice site probably null
R8376:Rnf4 UTSW 5 34,508,701 (GRCm39) missense probably damaging 0.98
R8493:Rnf4 UTSW 5 34,506,035 (GRCm39) missense probably damaging 1.00
R9425:Rnf4 UTSW 5 34,508,641 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CCCTTTTCAATGGCTTTTGGAG -3'
(R):5'- CAGCAGCTTCTAGATAGGGCTG -3'

Sequencing Primer
(F):5'- TTTGGAGCCCAGCCCTTCAAG -3'
(R):5'- TGGGTTGGAAAACATCGATTTGCAC -3'
Posted On 2015-11-11