Incidental Mutation 'R1318:Rnf4'
ID 157597
Institutional Source Beutler Lab
Gene Symbol Rnf4
Ensembl Gene ENSMUSG00000029110
Gene Name ring finger protein 4
Synonyms Gtrgeo8
MMRRC Submission 039384-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1318 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 34493594-34510789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34508590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 151 (R151S)
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: R151S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030992
Gene: ENSMUSG00000029110
AA Change: R151S

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: R151S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138411
Gene: ENSMUSG00000029110
AA Change: R151S

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: R151S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138555
Gene: ENSMUSG00000029110
AA Change: R151S

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
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.9%
  • 20x: 82.6%
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G T 5: 8,751,621 (GRCm39) V334L probably benign Het
Alms1 T G 6: 85,605,531 (GRCm39) S1925A possibly damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Comt G T 16: 18,226,641 (GRCm39) D248E probably damaging Het
Ctnna2 A C 6: 76,859,773 (GRCm39) N874K probably damaging Het
Dnah7b C T 1: 46,138,669 (GRCm39) P237L possibly damaging Het
Galnt4 T G 10: 98,945,772 (GRCm39) V499G probably damaging Het
Gh T C 11: 106,191,923 (GRCm39) T96A probably benign Het
Gng8 T C 7: 16,629,161 (GRCm39) V29A probably damaging Het
Hnrnpu G A 1: 178,157,822 (GRCm39) probably benign Het
Igdcc4 T C 9: 65,040,972 (GRCm39) L1001P probably damaging Het
Jph1 A C 1: 17,067,714 (GRCm39) F658V probably damaging Het
Kcnj3 A T 2: 55,327,750 (GRCm39) M180L possibly damaging Het
Ldb2 C T 5: 44,692,379 (GRCm39) probably null Het
Mettl2 C A 11: 105,028,597 (GRCm39) Y316* probably null Het
Mug2 G A 6: 122,054,361 (GRCm39) V1047M probably damaging Het
Mxra8 G T 4: 155,925,956 (GRCm39) C140F probably damaging Het
Mylip T C 13: 45,559,401 (GRCm39) I101T probably benign Het
Oasl2 A G 5: 115,039,442 (GRCm39) N210S probably benign Het
Pclo A G 5: 14,729,328 (GRCm39) probably benign Het
Plaat3 T A 19: 7,556,591 (GRCm39) probably null Het
Rims2 G A 15: 39,381,222 (GRCm39) R1051H probably damaging Het
Serpina11 A T 12: 103,952,777 (GRCm39) probably benign Het
Trim30b T A 7: 104,006,542 (GRCm39) T105S possibly damaging Het
Ttn T C 2: 76,706,164 (GRCm39) probably benign Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zranb1 C A 7: 132,568,281 (GRCm39) S313* probably null 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
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
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'- AGCCACTTTGTACTGCTGCACC -3'
(R):5'- GGACCGTGCTCCATAGCATCAAAC -3'

Sequencing Primer
(F):5'- GGAAGTCCTGTCTGTCACCTG -3'
(R):5'- CTGGAGGCAGATACCATGC -3'
Posted On 2014-02-18