Incidental Mutation 'IGL03025:Rnf133'
ID408128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf133
Ensembl Gene ENSMUSG00000051956
Gene Namering finger protein 133
SynonymsGreul2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL03025
Quality Score
Status
Chromosome6
Chromosomal Location23648869-23650305 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23649135 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 265 (M265T)
Ref Sequence ENSEMBL: ENSMUSP00000066906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018122] [ENSMUST00000063548] [ENSMUST00000069074] [ENSMUST00000104979] [ENSMUST00000115354] [ENSMUST00000115356] [ENSMUST00000115358] [ENSMUST00000115361] [ENSMUST00000142913] [ENSMUST00000163871] [ENSMUST00000166458]
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: M265T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000066906
Gene: ENSMUSG00000051956
AA Change: M265T

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: M308T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000111011
Gene: ENSMUSG00000051956
AA Change: M308T

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 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: 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 noncoding transcript
Transcript: ENSMUST00000136279
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
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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,473,485 N91S possibly damaging Het
Adora1 T C 1: 134,203,069 Y288C probably damaging Het
Avil A T 10: 127,013,577 T581S probably benign Het
Cacna1h C T 17: 25,432,894 W92* probably null Het
Calr3 A C 8: 72,434,891 probably benign Het
Cdan1 T C 2: 120,730,741 E181G probably damaging Het
Clca4a T C 3: 144,957,318 N590S probably benign Het
Cnga1 T A 5: 72,605,413 I253F probably benign Het
Cngb3 T G 4: 19,283,498 probably benign Het
Cstf3 T A 2: 104,608,931 Y30N possibly damaging Het
Cyp2a12 T A 7: 27,031,206 S199T probably benign Het
Dlg1 A G 16: 31,805,727 I412V probably benign Het
E330017A01Rik A C 16: 58,637,713 I75S probably damaging Het
Fasn C T 11: 120,818,148 V570M probably benign Het
Fhit A G 14: 10,421,534 S85P probably damaging Het
Frmd5 T A 2: 121,553,344 M369L probably benign Het
Gatb T C 3: 85,575,874 W63R probably damaging Het
Gga1 G T 15: 78,888,182 L227F probably damaging Het
Itgb1 A G 8: 128,722,584 N557S possibly damaging Het
Ltf T C 9: 111,025,101 V328A possibly damaging Het
Nefh T C 11: 4,945,289 E300G probably damaging Het
Nrip1 A G 16: 76,294,465 V68A probably benign Het
Olfr24 T C 9: 18,755,369 N89D probably benign Het
Pcdhb13 T G 18: 37,442,764 V65G probably damaging Het
Pcdhb4 A T 18: 37,309,977 Y780F possibly damaging Het
Plcd3 C T 11: 103,074,898 E503K probably benign Het
Rbm6 T A 9: 107,774,719 D903V possibly damaging Het
Sbf1 T C 15: 89,289,645 T1775A probably damaging Het
Serpina1f T A 12: 103,693,546 D159V probably damaging Het
Skap1 C A 11: 96,702,682 S118R probably damaging Het
Slc17a9 C A 2: 180,739,816 probably null Het
Slc30a5 A G 13: 100,813,887 S231P probably damaging Het
Stac2 A G 11: 98,043,722 F52S probably damaging Het
Them7 T C 2: 105,297,805 S44P probably benign Het
Tnmd A G X: 133,865,413 probably benign Het
Trdmt1 A T 2: 13,523,435 I105N probably damaging Het
Trpc1 C T 9: 95,710,260 G554E probably damaging Het
Vmn1r37 A G 6: 66,731,756 Y85C probably benign Het
Zim1 T C 7: 6,682,059 T131A probably benign Het
Other mutations in Rnf133
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Rnf133 APN 6 23649256 missense probably benign 0.00
IGL01907:Rnf133 APN 6 23649304 missense probably benign 0.04
IGL01972:Rnf133 APN 6 23648989 missense probably benign 0.00
R0682:Rnf133 UTSW 6 23649570 missense probably damaging 1.00
R2251:Rnf133 UTSW 6 23649175 missense probably benign 0.01
R2253:Rnf133 UTSW 6 23649175 missense probably benign 0.01
R2970:Rnf133 UTSW 6 23649406 missense probably benign 0.17
R4204:Rnf133 UTSW 6 23649049 missense probably benign 0.00
R4600:Rnf133 UTSW 6 23649042 missense possibly damaging 0.86
R4601:Rnf133 UTSW 6 23649042 missense possibly damaging 0.86
R5123:Rnf133 UTSW 6 23649260 missense probably damaging 0.99
R6845:Rnf133 UTSW 6 23649342 missense possibly damaging 0.83
R6877:Rnf133 UTSW 6 23649487 missense probably benign 0.01
R7263:Rnf133 UTSW 6 23649668 nonsense probably null
Posted On2016-08-02