Incidental Mutation 'IGL02515:Rnf2'
ID 296724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf2
Ensembl Gene ENSMUSG00000026484
Gene Name ring finger protein 2
Synonyms Ring1B, dinG
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02515
Quality Score
Status
Chromosome 1
Chromosomal Location 151345149-151376747 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 151347446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 137 (D137E)
Ref Sequence ENSEMBL: ENSMUSP00000139676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076110] [ENSMUST00000186415] [ENSMUST00000187048] [ENSMUST00000190070]
AlphaFold Q9CQJ4
Predicted Effect probably benign
Transcript: ENSMUST00000076110
AA Change: D284E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075476
Gene: ENSMUSG00000026484
AA Change: D284E

DomainStartEndE-ValueType
RING 51 90 1.7e-7 SMART
Pfam:RAWUL 234 330 1.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185945
Predicted Effect probably benign
Transcript: ENSMUST00000186415
AA Change: D212E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140594
Gene: ENSMUSG00000026484
AA Change: D212E

DomainStartEndE-ValueType
RING 51 110 3.24e-4 SMART
PDB:3H8H|A 148 258 4e-78 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000187048
AA Change: D284E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140896
Gene: ENSMUSG00000026484
AA Change: D284E

DomainStartEndE-ValueType
RING 51 90 1.7e-7 SMART
PDB:3H8H|A 220 330 4e-77 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188871
Predicted Effect probably benign
Transcript: ENSMUST00000190070
AA Change: D137E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000139676
Gene: ENSMUSG00000026484
AA Change: D137E

DomainStartEndE-ValueType
Blast:RING 1 35 7e-16 BLAST
PDB:3H8H|A 73 156 2e-56 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polycomb group (PcG) of proteins form the multiprotein complexes that are important for the transcription repression of various genes involved in development and cell proliferation. The protein encoded by this gene is one of the PcG proteins. It has been shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart suggested the involvement of this gene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with huntingtin interacting protein 2 (HIP2), an ubiquitin-conjugating enzyme, and possess ubiquitin ligase activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a null allele show an early growth arrest, failure to progress through gastrulation, impaired epiblast expansion, accumulation of posterior mesoderm and die before E10.5. Mice homozygous for a hypomorphic allele show posterior homeotic transformations of the axial skeleton. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,153,229 (GRCm39) D879G probably benign Het
Atp6v0d2 A T 4: 19,880,063 (GRCm39) F278Y possibly damaging Het
Cip2a A G 16: 48,826,096 (GRCm39) T388A possibly damaging Het
Dapk3 T C 10: 81,025,763 (GRCm39) probably benign Het
Dpysl4 A T 7: 138,676,651 (GRCm39) D367V probably damaging Het
E330034G19Rik T A 14: 24,348,052 (GRCm39) D101E possibly damaging Het
Epb41l1 G A 2: 156,378,933 (GRCm39) E811K probably damaging Het
Fsd1 T A 17: 56,303,303 (GRCm39) V424E probably null Het
Ggt5 G A 10: 75,425,604 (GRCm39) V21I probably benign Het
Gm5239 A G 18: 35,669,787 (GRCm39) E51G probably damaging Het
Gpr156 A G 16: 37,826,041 (GRCm39) S753G probably damaging Het
Grid1 A T 14: 35,174,302 (GRCm39) Y648F probably damaging Het
Hmgcr T C 13: 96,803,020 (GRCm39) probably benign Het
Insc A G 7: 114,368,243 (GRCm39) D11G probably damaging Het
Mmp9 A G 2: 164,790,876 (GRCm39) D88G probably damaging Het
Mtmr10 C T 7: 63,987,259 (GRCm39) R600W probably damaging Het
Nlrc3 C A 16: 3,767,323 (GRCm39) probably benign Het
Or5b116 T A 19: 13,422,472 (GRCm39) I32N probably damaging Het
Or8g51 T C 9: 38,609,087 (GRCm39) T196A probably benign Het
Pdcd11 A T 19: 47,113,516 (GRCm39) D1323V probably damaging Het
Rgl3 T C 9: 21,885,396 (GRCm39) R645G possibly damaging Het
Smchd1 T C 17: 71,747,952 (GRCm39) H430R probably damaging Het
Sptb A G 12: 76,653,261 (GRCm39) V1534A possibly damaging Het
Stip1 T C 19: 6,999,487 (GRCm39) T432A probably benign Het
Tnfsf14 T C 17: 57,499,600 (GRCm39) D84G probably benign Het
Ube2o A G 11: 116,434,525 (GRCm39) V601A probably damaging Het
Vmn1r215 T C 13: 23,259,990 (GRCm39) I10T probably benign Het
Vtn A T 11: 78,392,480 (GRCm39) I353F probably damaging Het
Other mutations in Rnf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1913:Rnf2 UTSW 1 151,351,936 (GRCm39) missense probably damaging 1.00
R4333:Rnf2 UTSW 1 151,348,827 (GRCm39) missense possibly damaging 0.68
R4965:Rnf2 UTSW 1 151,348,968 (GRCm39) nonsense probably null
R6323:Rnf2 UTSW 1 151,348,967 (GRCm39) missense probably damaging 0.98
R6886:Rnf2 UTSW 1 151,349,017 (GRCm39) missense possibly damaging 0.85
R7386:Rnf2 UTSW 1 151,347,131 (GRCm39) missense probably damaging 1.00
R7474:Rnf2 UTSW 1 151,347,467 (GRCm39) missense probably benign
R9055:Rnf2 UTSW 1 151,352,030 (GRCm39) missense probably damaging 1.00
R9125:Rnf2 UTSW 1 151,347,433 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16