Incidental Mutation 'R5035:Rnf4'
ID389494
Institutional Source Beutler Lab
Gene Symbol Rnf4
Ensembl Gene ENSMUSG00000029110
Gene Namering finger protein 4
SynonymsGtrgeo8
MMRRC Submission 042626-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5035 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location34336289-34355629 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34351339 bp
ZygosityHeterozygous
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]
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: ENSMUST00000182970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183265
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: 53,583,510 I361V probably benign Het
Afp A G 5: 90,507,905 D583G probably benign Het
Bcas3 C T 11: 85,543,945 A552V probably damaging Het
Bfsp2 T G 9: 103,479,866 T121P probably benign Het
Bicra C T 7: 15,979,424 R951Q possibly damaging Het
Cdc40 G A 10: 40,849,813 T220I probably benign Het
Cdk5rap3 T C 11: 96,916,085 probably benign Het
Clcnka A T 4: 141,395,158 Y179* probably null Het
Creb3l1 T A 2: 91,987,086 I361F probably benign Het
Csmd3 T C 15: 47,590,779 Y3557C probably damaging Het
Dab2ip A G 2: 35,709,941 S190G probably benign Het
Dbx1 T C 7: 49,632,536 H307R unknown Het
Dock8 C A 19: 25,086,207 P258T probably damaging Het
Eml6 T C 11: 29,854,187 I305V probably benign Het
Frem3 T A 8: 80,615,914 F1612Y probably damaging Het
Fubp1 A G 3: 152,214,851 T76A probably benign Het
Glmp G C 3: 88,326,644 probably benign Het
Gm20918 A G Y: 5,045,992 Q183R probably benign Het
Krt28 T C 11: 99,366,824 N397S probably benign Het
Lin9 T A 1: 180,669,198 L351I probably benign Het
Map3k13 T C 16: 21,921,671 Y583H probably benign Het
Mcm3 A T 1: 20,803,418 probably benign Het
Misp T C 10: 79,827,956 V588A probably benign Het
Olfr1202 A T 2: 88,818,099 K309N probably benign Het
Olfr348 A G 2: 36,786,891 D122G probably damaging Het
Olfr373 T A 8: 72,100,078 L106H probably damaging Het
Olfr644 G A 7: 104,068,407 T208I possibly damaging Het
Olfr970 G A 9: 39,820,094 A152T possibly damaging Het
Osbpl9 A G 4: 109,066,167 F449L probably damaging Het
Pkhd1l1 A G 15: 44,568,324 D3358G probably damaging Het
Prodh2 A T 7: 30,506,479 S247C possibly damaging Het
Prr23a3 G A 9: 98,865,130 E46K possibly damaging Het
Ptprz1 A G 6: 23,016,215 I837V probably benign Het
Rabgap1l A C 1: 160,724,036 F263V probably damaging Het
Slc24a2 G T 4: 87,011,706 R469S possibly damaging Het
Speer2 A G 16: 69,857,941 probably null Het
Tcrg-C4 G T 13: 19,352,336 R188L unknown Het
Tg C A 15: 66,681,813 probably null Het
Tns1 G A 1: 73,953,820 probably benign Het
Top2b G T 14: 16,409,966 A878S probably benign Het
Ugt3a2 G A 15: 9,361,618 R160Q probably benign Het
Ush2a G T 1: 188,910,808 L4122F probably damaging Het
Other mutations in Rnf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01926:Rnf4 APN 5 34346779 missense probably benign 0.01
IGL02740:Rnf4 APN 5 34349554 missense possibly damaging 0.93
IGL03350:Rnf4 APN 5 34346860 missense possibly damaging 0.88
R1318:Rnf4 UTSW 5 34351246 missense probably damaging 0.99
R1669:Rnf4 UTSW 5 34351280 missense probably damaging 1.00
R4456:Rnf4 UTSW 5 34351361 missense probably benign 0.27
R4457:Rnf4 UTSW 5 34351361 missense probably benign 0.27
R4730:Rnf4 UTSW 5 34350803 missense possibly damaging 0.78
R4842:Rnf4 UTSW 5 34348709 missense probably damaging 1.00
R6083:Rnf4 UTSW 5 34351221 splice site probably null
R8376:Rnf4 UTSW 5 34351357 missense probably damaging 0.98
R8493:Rnf4 UTSW 5 34348691 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAACCCAGGCCCTTCTTTG -3'
(R):5'- TGAGCTGATCTAGGAGGATCC -3'

Sequencing Primer
(F):5'- AGGCCCTTCTTTGTTTCACTTG -3'
(R):5'- TGATCTAGGAGGATCCCTGGAC -3'
Posted On2016-06-06