Incidental Mutation 'R8376:Rnf4'
ID 646670
Institutional Source Beutler Lab
Gene Symbol Rnf4
Ensembl Gene ENSMUSG00000029110
Gene Name ring finger protein 4
Synonyms Gtrgeo8
MMRRC Submission 067744-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8376 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 34493594-34510789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34508701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 188 (R188W)
Ref Sequence ENSEMBL: ENSMUSP00000030992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030992] [ENSMUST00000182047] [ENSMUST00000182583] [ENSMUST00000182709]
AlphaFold Q9QZS2
PDB Structure Solution structure of SUMO dimer in complex with SIM2-3 from RNF4 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000030992
AA Change: R188W

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030992
Gene: ENSMUSG00000029110
AA Change: R188W

DomainStartEndE-ValueType
low complexity region 77 88 N/A INTRINSIC
RING 136 180 2.65e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182047
AA Change: R188W

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138411
Gene: ENSMUSG00000029110
AA Change: R188W

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: R188W

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138555
Gene: ENSMUSG00000029110
AA Change: R188W

DomainStartEndE-ValueType
low complexity region 77 88 N/A INTRINSIC
RING 136 180 2.65e-9 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A C 8: 25,409,936 (GRCm39) I173S possibly damaging Het
Ahctf1 T C 1: 179,610,520 (GRCm39) D599G probably damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Ankrd40 G T 11: 94,225,662 (GRCm39) G231V probably damaging Het
Apba2 T A 7: 64,345,341 (GRCm39) V177D probably benign Het
Atp12a G T 14: 56,612,083 (GRCm39) probably null Het
Birc6 C T 17: 74,896,635 (GRCm39) T1027M probably benign Het
Bmpr2 G A 1: 59,906,515 (GRCm39) R536H probably damaging Het
Brms1l C A 12: 55,888,414 (GRCm39) N67K probably benign Het
Cachd1 G A 4: 100,832,073 (GRCm39) R745H probably damaging Het
Cacnb4 G A 2: 52,354,665 (GRCm39) Q238* probably null Het
Cdc42 G A 4: 137,056,205 (GRCm39) T102I probably benign Het
Cfhr1 A C 1: 139,475,549 (GRCm39) C307W unknown Het
Ddb1 G A 19: 10,596,669 (GRCm39) V463M probably damaging Het
Dhx30 G A 9: 109,917,707 (GRCm39) R365C probably benign Het
Dnah1 A G 14: 31,023,303 (GRCm39) F1005L probably damaging Het
Elp4 A G 2: 105,672,653 (GRCm39) V144A probably benign Het
Enpp2 T A 15: 54,773,491 (GRCm39) N77Y probably damaging Het
Fsip1 C T 2: 118,063,519 (GRCm39) V317I possibly damaging Het
Gc G A 5: 89,586,118 (GRCm39) Q341* probably null Het
Gpt2 A T 8: 86,219,694 (GRCm39) I47F probably benign Het
Ino80 A T 2: 119,272,968 (GRCm39) S503T probably benign Het
Kcnn4 C A 7: 24,077,051 (GRCm39) T200K possibly damaging Het
Krtap4-7 A G 11: 99,534,753 (GRCm39) S37P unknown Het
Lrrc4b T C 7: 44,112,018 (GRCm39) V630A probably benign Het
Man2a2 C T 7: 80,010,671 (GRCm39) W773* probably null Het
Mgrn1 T A 16: 4,733,630 (GRCm39) L192Q probably damaging Het
Mtx1 A G 3: 89,121,478 (GRCm39) V52A probably benign Het
Myc A T 15: 61,859,395 (GRCm39) N24Y possibly damaging Het
Nbea G A 3: 55,551,076 (GRCm39) S2696L possibly damaging Het
Nox4 A G 7: 87,023,592 (GRCm39) N493D probably damaging Het
Or52w1 C A 7: 105,017,847 (GRCm39) P105T probably benign Het
Osbpl10 G A 9: 115,052,661 (GRCm39) G403D probably damaging Het
Pdcd6ip A T 9: 113,518,684 (GRCm39) L192Q probably damaging Het
Pde3a A G 6: 141,426,947 (GRCm39) I703V possibly damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pkd1l3 CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA 8: 110,350,420 (GRCm39) probably benign Het
Plcb3 A G 19: 6,944,071 (GRCm39) S36P probably damaging Het
Plk5 T C 10: 80,196,179 (GRCm39) F279L probably damaging Het
Prl7a1 T G 13: 27,821,638 (GRCm39) E99D probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGAGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Scel A G 14: 103,809,451 (GRCm39) S264G probably benign Het
Sdk1 A G 5: 142,144,376 (GRCm39) Q1712R possibly damaging Het
Slc15a1 A G 14: 121,718,115 (GRCm39) Y255H probably benign Het
Syne1 C T 10: 4,993,615 (GRCm39) G525D probably benign Het
Taldo1 T C 7: 140,981,788 (GRCm39) V214A probably damaging Het
Tbc1d12 A G 19: 38,889,853 (GRCm39) T428A probably damaging Het
Tlr6 T C 5: 65,112,455 (GRCm39) K151E probably benign Het
Ubr2 T A 17: 47,253,721 (GRCm39) D1468V probably benign Het
Ubtf A C 11: 102,199,737 (GRCm39) Y463D probably damaging Het
Uroc1 A T 6: 90,314,697 (GRCm39) M106L probably damaging Het
Vmn1r55 T A 7: 5,149,869 (GRCm39) I185L probably benign Het
Vmn2r93 T A 17: 18,525,230 (GRCm39) V296D probably damaging Het
Zfp65 A C 13: 67,857,037 (GRCm39) Y81D probably damaging Het
Zw10 A T 9: 48,988,783 (GRCm39) Y683F 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
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
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'- TGATCTAGGAGGATCCCTGGAC -3'

Sequencing Primer
(F):5'- TCGGGTCTTTGTAGAAAAAGGGATAC -3'
(R):5'- CCTGGACCGTGCTCCATAG -3'
Posted On 2020-09-02