Incidental Mutation 'IGL03264:Rnf128'
ID 415020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf128
Ensembl Gene ENSMUSG00000031438
Gene Name ring finger protein 128
Synonyms 1300002C13Rik, Greul1, GRAIL
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # IGL03264
Quality Score
Status
Chromosome X
Chromosomal Location 138464089-138573894 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 138511985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 144 (V144G)
Ref Sequence ENSEMBL: ENSMUSP00000108649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113026] [ENSMUST00000113027]
AlphaFold Q9D304
Predicted Effect probably damaging
Transcript: ENSMUST00000113026
AA Change: V144G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108649
Gene: ENSMUSG00000031438
AA Change: V144G

DomainStartEndE-ValueType
Pfam:PA 79 181 4.9e-12 PFAM
transmembrane domain 206 228 N/A INTRINSIC
RING 277 317 5.14e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113027
SMART Domains Protein: ENSMUSP00000108650
Gene: ENSMUSG00000031438

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:PA 58 157 1.6e-13 PFAM
transmembrane domain 181 203 N/A INTRINSIC
RING 251 291 5.14e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000113029
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele dsiplay defects in naive, helper and anergic T cell states affecting survival, proliferation and cytokine secretion. Homozygotes for another null allele show impaired T cell tolerance and regulatory T cell function and increased susceptibility to autoimmune disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T G 17: 31,283,428 (GRCm39) S38A probably benign Het
Alkbh1 T G 12: 87,478,197 (GRCm39) D238A probably damaging Het
Arhgef17 A T 7: 100,529,220 (GRCm39) D1531E probably benign Het
Bltp1 A T 3: 37,056,784 (GRCm39) I3152F probably damaging Het
Cacng3 G T 7: 122,271,180 (GRCm39) G62W probably damaging Het
Cdh22 T C 2: 164,958,093 (GRCm39) I625V probably benign Het
Ces5a T C 8: 94,228,898 (GRCm39) N444S possibly damaging Het
Chst13 A T 6: 90,286,193 (GRCm39) Y256* probably null Het
Clcn5 T A X: 7,044,613 (GRCm39) H177L probably benign Het
Dars1 G A 1: 128,341,427 (GRCm39) R63C probably damaging Het
Dcun1d4 A G 5: 73,677,572 (GRCm39) S84G probably benign Het
Dcxr T C 11: 120,617,298 (GRCm39) N82D probably damaging Het
Eef1a2 C A 2: 180,790,527 (GRCm39) K376N possibly damaging Het
Efhc1 G A 1: 21,037,715 (GRCm39) M297I probably benign Het
Etfb G T 7: 43,101,897 (GRCm39) V64F probably damaging Het
Fam135b A C 15: 71,334,637 (GRCm39) N852K probably benign Het
Gigyf2 T C 1: 87,376,790 (GRCm39) probably benign Het
Gria4 T C 9: 4,513,288 (GRCm39) K274E probably benign Het
Irag1 A T 7: 110,525,553 (GRCm39) S200T probably benign Het
Itgae A G 11: 73,006,400 (GRCm39) E356G possibly damaging Het
Med12l C T 3: 59,208,788 (GRCm39) Q2139* probably null Het
Plxna4 A G 6: 32,155,337 (GRCm39) F1536L possibly damaging Het
Pramel19 A T 4: 101,798,329 (GRCm39) Q100L probably damaging Het
Rmnd5a A G 6: 71,370,119 (GRCm39) I389T probably damaging Het
Rpgrip1 A G 14: 52,378,109 (GRCm39) T486A possibly damaging Het
Rps6kc1 T C 1: 190,604,026 (GRCm39) T199A probably benign Het
Skint5 T A 4: 113,343,854 (GRCm39) D1338V unknown Het
Slc35g2 A T 9: 100,434,699 (GRCm39) I324K possibly damaging Het
Slc4a5 G A 6: 83,238,507 (GRCm39) R225H probably damaging Het
Srgap3 A T 6: 112,793,636 (GRCm39) H113Q probably damaging Het
Stpg2 A C 3: 139,014,970 (GRCm39) K378N possibly damaging Het
Svep1 A G 4: 58,066,422 (GRCm39) probably benign Het
Utp11 T C 4: 124,573,521 (GRCm39) K218E probably damaging Het
Vmn2r53 T A 7: 12,315,819 (GRCm39) I667F possibly damaging Het
Wdfy3 A G 5: 102,048,016 (GRCm39) L1763P probably damaging Het
Wnt2 A G 6: 17,989,959 (GRCm39) Y313H probably benign Het
Zfp638 T C 6: 83,923,229 (GRCm39) S676P probably benign Het
Zfp747l1 A G 7: 126,984,811 (GRCm39) probably benign Het
Other mutations in Rnf128
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3973:Rnf128 UTSW X 138,565,271 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02