Incidental Mutation 'IGL00491:Rnf133'
ID 5472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf133
Ensembl Gene ENSMUSG00000051956
Gene Name ring finger protein 133
Synonyms Greul2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL00491
Quality Score
Status
Chromosome 6
Chromosomal Location 23648868-23650304 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23649255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 225 (I225V)
Ref Sequence ENSEMBL: ENSMUSP00000066906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018122] [ENSMUST00000063548] [ENSMUST00000069074] [ENSMUST00000104979] [ENSMUST00000115354] [ENSMUST00000115356] [ENSMUST00000163871] [ENSMUST00000166458] [ENSMUST00000115361] [ENSMUST00000115358] [ENSMUST00000142913]
AlphaFold Q14B02
Predicted Effect probably benign
Transcript: ENSMUST00000018122
SMART Domains Protein: ENSMUSP00000018122
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
low complexity region 114 126 N/A INTRINSIC
coiled coil region 265 285 N/A INTRINSIC
C2 369 467 1.51e-1 SMART
PH 492 596 2.94e-11 SMART
DUF1041 801 902 1.14e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000063548
AA Change: I225V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000066906
Gene: ENSMUSG00000051956
AA Change: I225V

DomainStartEndE-ValueType
Pfam:PA 94 162 3.6e-11 PFAM
RING 213 253 6.43e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069074
SMART Domains Protein: ENSMUSP00000064876
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
low complexity region 114 126 N/A INTRINSIC
coiled coil region 265 285 N/A INTRINSIC
C2 369 467 1.51e-1 SMART
PH 492 596 2.94e-11 SMART
DUF1041 801 895 5.54e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000104979
SMART Domains Protein: ENSMUSP00000100592
Gene: ENSMUSG00000078179

DomainStartEndE-ValueType
low complexity region 25 43 N/A INTRINSIC
Pfam:PA 82 178 1e-13 PFAM
RING 269 309 1.82e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115354
AA Change: I268V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000111011
Gene: ENSMUSG00000051956
AA Change: I268V

DomainStartEndE-ValueType
Pfam:PA 70 165 1.9e-13 PFAM
RING 256 296 6.43e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115356
SMART Domains Protein: ENSMUSP00000111013
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
low complexity region 114 126 N/A INTRINSIC
coiled coil region 265 285 N/A INTRINSIC
C2 369 467 1.51e-1 SMART
PH 492 596 2.94e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136279
Predicted Effect probably benign
Transcript: ENSMUST00000163871
SMART Domains Protein: ENSMUSP00000128905
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
low complexity region 114 126 N/A INTRINSIC
coiled coil region 265 285 N/A INTRINSIC
C2 369 467 1.51e-1 SMART
PH 492 596 2.94e-11 SMART
DUF1041 801 902 7.2e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166458
SMART Domains Protein: ENSMUSP00000125972
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 85 97 N/A INTRINSIC
coiled coil region 236 256 N/A INTRINSIC
C2 340 438 1.51e-1 SMART
PH 463 567 2.94e-11 SMART
DUF1041 772 873 1.05e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115361
SMART Domains Protein: ENSMUSP00000111018
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
low complexity region 114 126 N/A INTRINSIC
coiled coil region 265 285 N/A INTRINSIC
C2 369 467 1.51e-1 SMART
PH 492 596 2.94e-11 SMART
DUF1041 801 892 1.9e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115358
SMART Domains Protein: ENSMUSP00000111015
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
low complexity region 114 126 N/A INTRINSIC
coiled coil region 265 285 N/A INTRINSIC
C2 369 467 1.51e-1 SMART
PH 492 596 2.94e-11 SMART
DUF1041 801 902 1.14e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142913
SMART Domains Protein: ENSMUSP00000138167
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 22 39 N/A INTRINSIC
low complexity region 85 97 N/A INTRINSIC
coiled coil region 236 256 N/A INTRINSIC
C2 340 438 1.51e-1 SMART
PH 463 567 2.94e-11 SMART
DUF1041 772 873 1.14e-52 SMART
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 contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene has no intron. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,171,113 (GRCm39) S1870Y possibly damaging Het
Bcorl1 T G X: 47,494,919 (GRCm39) V1730G probably damaging Het
Ccdc7a A G 8: 129,753,235 (GRCm39) probably benign Het
Col13a1 T A 10: 61,699,784 (GRCm39) probably null Het
Dgkq A G 5: 108,802,448 (GRCm39) S417P possibly damaging Het
Dnah1 A G 14: 30,983,796 (GRCm39) Y4016H probably damaging Het
Dnajc1 A G 2: 18,313,713 (GRCm39) V136A possibly damaging Het
Fcgbp A G 7: 27,792,827 (GRCm39) T944A probably damaging Het
Gm10351 A T 7: 42,749,217 (GRCm39) noncoding transcript Het
Mettl9 T A 7: 120,651,336 (GRCm39) V17E probably damaging Het
Msh5 A G 17: 35,249,706 (GRCm39) V613A probably damaging Het
Nup54 T A 5: 92,565,344 (GRCm39) I458L probably benign Het
Oxct1 A G 15: 4,125,996 (GRCm39) N365D probably damaging Het
Patl1 T A 19: 11,907,251 (GRCm39) N378K probably benign Het
Plcl1 T C 1: 55,752,657 (GRCm39) probably null Het
Polk A T 13: 96,633,268 (GRCm39) D258E probably benign Het
Ppm1f T C 16: 16,741,777 (GRCm39) L417P probably benign Het
Robo4 A T 9: 37,317,231 (GRCm39) K463N possibly damaging Het
Slc12a2 T A 18: 58,069,477 (GRCm39) D1019E probably damaging Het
Spock1 C A 13: 57,704,619 (GRCm39) R116S possibly damaging Het
Stambp G T 6: 83,533,280 (GRCm39) L328I probably damaging Het
Tdrd7 T C 4: 46,010,889 (GRCm39) C598R probably damaging Het
Tmem87a A G 2: 120,210,261 (GRCm39) probably benign Het
Tpra1 A G 6: 88,887,390 (GRCm39) probably benign Het
Vps13c A G 9: 67,800,418 (GRCm39) E544G probably damaging Het
Other mutations in Rnf133
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01907:Rnf133 APN 6 23,649,303 (GRCm39) missense probably benign 0.04
IGL01972:Rnf133 APN 6 23,648,988 (GRCm39) missense probably benign 0.00
IGL03025:Rnf133 APN 6 23,649,134 (GRCm39) missense probably benign 0.03
R0682:Rnf133 UTSW 6 23,649,569 (GRCm39) missense probably damaging 1.00
R2251:Rnf133 UTSW 6 23,649,174 (GRCm39) missense probably benign 0.01
R2253:Rnf133 UTSW 6 23,649,174 (GRCm39) missense probably benign 0.01
R2970:Rnf133 UTSW 6 23,649,405 (GRCm39) missense probably benign 0.01
R4204:Rnf133 UTSW 6 23,649,048 (GRCm39) missense probably benign 0.00
R4600:Rnf133 UTSW 6 23,649,041 (GRCm39) missense possibly damaging 0.86
R4601:Rnf133 UTSW 6 23,649,041 (GRCm39) missense possibly damaging 0.86
R5123:Rnf133 UTSW 6 23,649,259 (GRCm39) missense probably damaging 0.99
R6845:Rnf133 UTSW 6 23,649,341 (GRCm39) missense possibly damaging 0.83
R6877:Rnf133 UTSW 6 23,649,486 (GRCm39) missense probably benign 0.01
R7263:Rnf133 UTSW 6 23,649,667 (GRCm39) nonsense probably null
R8427:Rnf133 UTSW 6 23,649,405 (GRCm39) missense probably benign 0.01
R9111:Rnf133 UTSW 6 23,648,928 (GRCm39) missense probably benign
Posted On 2012-04-20