Incidental Mutation 'IGL01926:Rnf4'
ID180289
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf4
Ensembl Gene ENSMUSG00000029110
Gene Namering finger protein 4
SynonymsGtrgeo8
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01926
Quality Score
Status
Chromosome5
Chromosomal Location34336289-34355629 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34346779 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 5 (N5S)
Ref Sequence ENSEMBL: ENSMUSP00000138594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030992] [ENSMUST00000182047] [ENSMUST00000182583] [ENSMUST00000182709]
Predicted Effect probably benign
Transcript: ENSMUST00000030992
AA Change: N5S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030992
Gene: ENSMUSG00000029110
AA Change: N5S

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 benign
Transcript: ENSMUST00000182047
AA Change: N5S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138411
Gene: ENSMUSG00000029110
AA Change: N5S

DomainStartEndE-ValueType
low complexity region 77 88 N/A INTRINSIC
RING 136 180 2.65e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182582
Predicted Effect probably benign
Transcript: ENSMUST00000182583
AA Change: N5S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000138594
Gene: ENSMUSG00000029110
AA Change: N5S

DomainStartEndE-ValueType
low complexity region 77 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182709
AA Change: N5S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138555
Gene: ENSMUSG00000029110
AA Change: N5S

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: ENSMUST00000182810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183265
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,135,329 probably benign Het
Ano1 C T 7: 144,610,875 V671M possibly damaging Het
Atf7ip2 G T 16: 10,241,885 D430Y probably damaging Het
Atp7b A T 8: 22,011,781 D740E probably damaging Het
Bbs1 A C 19: 4,902,863 S191A probably benign Het
Capn5 C T 7: 98,128,472 probably null Het
Cyp2c40 A G 19: 39,802,655 I244T probably benign Het
Dsg1a G T 18: 20,333,584 D504Y possibly damaging Het
Eif3a T C 19: 60,769,961 D793G unknown Het
Exoc4 C A 6: 33,862,142 D704E probably damaging Het
Fmo5 A C 3: 97,637,481 T109P probably damaging Het
Ggt5 A G 10: 75,604,101 I179V probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Irs1 G T 1: 82,289,959 R179S probably damaging Het
Jmy A T 13: 93,459,786 V445E probably damaging Het
Jup C A 11: 100,383,586 V93F probably benign Het
Krt20 T C 11: 99,437,826 Y91C probably damaging Het
Mug2 T A 6: 122,036,104 probably benign Het
Mybpc3 C T 2: 91,135,407 T1188I possibly damaging Het
Myt1 T C 2: 181,821,997 L1032P probably benign Het
Naip6 A T 13: 100,300,196 N606K probably damaging Het
Nfrkb A T 9: 31,414,179 M973L probably benign Het
Olfr1109 C T 2: 87,092,974 C141Y probably damaging Het
Olfr1477 A T 19: 13,502,741 T133S possibly damaging Het
Parp8 T C 13: 116,862,302 probably benign Het
Plekha5 T A 6: 140,525,916 M131K probably benign Het
Pomt1 T A 2: 32,243,472 S207T probably benign Het
Prlr T A 15: 10,314,220 M1K probably null Het
Prr15 A G 6: 54,329,505 K83E probably damaging Het
Sel1l3 T A 5: 53,200,143 H169L probably benign Het
Slc24a5 A G 2: 125,068,903 I85V probably benign Het
Tmc2 T C 2: 130,260,240 I775T possibly damaging Het
Trnau1ap A T 4: 132,319,562 F141L probably benign Het
Zscan4d A G 7: 11,164,994 C119R probably damaging Het
Zswim9 A T 7: 13,260,321 V636D possibly damaging Het
Other mutations in Rnf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5035:Rnf4 UTSW 5 34351339 missense probably damaging 0.99
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
Posted On2014-05-07