Incidental Mutation 'R5035:Rnf4'
ID 389494
Institutional Source Beutler Lab
Gene Symbol Rnf4
Ensembl Gene ENSMUSG00000029110
Gene Name ring finger protein 4
Synonyms Gtrgeo8
MMRRC Submission 042626-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5035 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 34493594-34510789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34508683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 182 (K182E)
Ref Sequence ENSEMBL: ENSMUSP00000138555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030992] [ENSMUST00000182047] [ENSMUST00000182583] [ENSMUST00000182709]
AlphaFold Q9QZS2
Predicted Effect probably damaging
Transcript: ENSMUST00000030992
AA Change: K182E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030992
Gene: ENSMUSG00000029110
AA Change: K182E

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 probably damaging
Transcript: ENSMUST00000182047
AA Change: K182E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138411
Gene: ENSMUSG00000029110
AA Change: K182E

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 probably damaging
Transcript: ENSMUST00000182709
AA Change: K182E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138555
Gene: ENSMUSG00000029110
AA Change: K182E

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: ENSMUST00000183265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183071
Meta Mutation Damage Score 0.2724 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (46/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T C 9: 53,494,810 (GRCm39) I361V probably benign Het
Afp A G 5: 90,655,764 (GRCm39) D583G probably benign Het
Bcas3 C T 11: 85,434,771 (GRCm39) A552V probably damaging Het
Bfsp2 T G 9: 103,357,065 (GRCm39) T121P probably benign Het
Bicra C T 7: 15,713,349 (GRCm39) R951Q possibly damaging Het
Cdc40 G A 10: 40,725,809 (GRCm39) T220I probably benign Het
Cdk5rap3 T C 11: 96,806,911 (GRCm39) probably benign Het
Clcnka A T 4: 141,122,469 (GRCm39) Y179* probably null Het
Creb3l1 T A 2: 91,817,431 (GRCm39) I361F probably benign Het
Csmd3 T C 15: 47,454,175 (GRCm39) Y3557C probably damaging Het
Dab2ip A G 2: 35,599,953 (GRCm39) S190G probably benign Het
Dbx1 T C 7: 49,282,284 (GRCm39) H307R unknown Het
Dock8 C A 19: 25,063,571 (GRCm39) P258T probably damaging Het
Eml6 T C 11: 29,804,187 (GRCm39) I305V probably benign Het
Frem3 T A 8: 81,342,543 (GRCm39) F1612Y probably damaging Het
Fubp1 A G 3: 151,920,488 (GRCm39) T76A probably benign Het
Glmp G C 3: 88,233,951 (GRCm39) probably benign Het
Gm20918 A G Y: 5,045,992 (GRCm39) Q183R probably benign Het
Krt28 T C 11: 99,257,650 (GRCm39) N397S probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Map3k13 T C 16: 21,740,421 (GRCm39) Y583H probably benign Het
Mcm3 A T 1: 20,873,642 (GRCm39) probably benign Het
Misp T C 10: 79,663,790 (GRCm39) V588A probably benign Het
Or1j19 A G 2: 36,676,903 (GRCm39) D122G probably damaging Het
Or2z9 T A 8: 72,853,922 (GRCm39) L106H probably damaging Het
Or4c105 A T 2: 88,648,443 (GRCm39) K309N probably benign Het
Or51a43 G A 7: 103,717,614 (GRCm39) T208I possibly damaging Het
Or8g37 G A 9: 39,731,390 (GRCm39) A152T possibly damaging Het
Osbpl9 A G 4: 108,923,364 (GRCm39) F449L probably damaging Het
Pkhd1l1 A G 15: 44,431,720 (GRCm39) D3358G probably damaging Het
Prodh2 A T 7: 30,205,904 (GRCm39) S247C possibly damaging Het
Prr23a3 G A 9: 98,747,183 (GRCm39) E46K possibly damaging Het
Ptprz1 A G 6: 23,016,214 (GRCm39) I837V probably benign Het
Rabgap1l A C 1: 160,551,606 (GRCm39) F263V probably damaging Het
Slc24a2 G T 4: 86,929,943 (GRCm39) R469S possibly damaging Het
Speer2 A G 16: 69,654,829 (GRCm39) probably null Het
Tg C A 15: 66,553,662 (GRCm39) probably null Het
Tns1 G A 1: 73,992,979 (GRCm39) probably benign Het
Top2b G T 14: 16,409,966 (GRCm38) A878S probably benign Het
Trgc4 G T 13: 19,536,506 (GRCm39) R188L unknown Het
Ugt3a1 G A 15: 9,361,704 (GRCm39) R160Q probably benign Het
Ush2a G T 1: 188,643,005 (GRCm39) L4122F probably 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
R4730:Rnf4 UTSW 5 34,508,147 (GRCm39) missense possibly damaging 0.78
R4842:Rnf4 UTSW 5 34,506,053 (GRCm39) missense probably damaging 1.00
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'- ACAACCCAGGCCCTTCTTTG -3'
(R):5'- TGAGCTGATCTAGGAGGATCC -3'

Sequencing Primer
(F):5'- AGGCCCTTCTTTGTTTCACTTG -3'
(R):5'- TGATCTAGGAGGATCCCTGGAC -3'
Posted On 2016-06-06