Incidental Mutation 'IGL01352:Rnf122'
ID 75381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf122
Ensembl Gene ENSMUSG00000039328
Gene Name ring finger protein 122
Synonyms 1110063C11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL01352
Quality Score
Status
Chromosome 8
Chromosomal Location 31601848-31621510 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 31614908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 71 (R71*)
Ref Sequence ENSEMBL: ENSMUSP00000150893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046941] [ENSMUST00000217278]
AlphaFold Q8BP31
Predicted Effect probably null
Transcript: ENSMUST00000046941
AA Change: R71*
SMART Domains Protein: ENSMUSP00000040478
Gene: ENSMUSG00000039328
AA Change: R71*

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
RING 92 132 3.64e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162640
Predicted Effect probably null
Transcript: ENSMUST00000217278
AA Change: R71*
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. The encoded protein is localized to the endoplasmic reticulum and golgi apparatus, and may be associated with cell viability. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,837,155 (GRCm39) I1169V probably benign Het
B3gnt5 T C 16: 19,587,963 (GRCm39) S61P probably damaging Het
Bambi G A 18: 3,512,071 (GRCm39) A152T probably damaging Het
Cacna1c G A 6: 118,633,518 (GRCm39) Q930* probably null Het
Ccdc178 A G 18: 22,152,031 (GRCm39) probably benign Het
Chit1 C T 1: 134,076,228 (GRCm39) T295M probably damaging Het
Cntnap5c C A 17: 58,600,896 (GRCm39) N746K probably benign Het
Cyfip2 A T 11: 46,156,823 (GRCm39) F422I probably benign Het
Dsg3 A G 18: 20,656,753 (GRCm39) M208V probably benign Het
Erich6 G A 3: 58,529,781 (GRCm39) probably null Het
Gbf1 A G 19: 46,253,654 (GRCm39) H574R probably damaging Het
Gm17654 T G 14: 43,813,331 (GRCm39) E186D probably damaging Het
Gm8165 T C 14: 43,913,573 (GRCm39) N97S unknown Het
Ilf3 C T 9: 21,303,618 (GRCm39) L160F possibly damaging Het
Krt84 T A 15: 101,437,209 (GRCm39) Q318L probably damaging Het
Lrp2 T A 2: 69,333,870 (GRCm39) H1457L possibly damaging Het
Lrrc37a T A 11: 103,390,181 (GRCm39) D1748V probably benign Het
Mybl1 T C 1: 9,741,904 (GRCm39) E676G probably damaging Het
Myo10 C A 15: 25,701,783 (GRCm39) R53S probably damaging Het
Myorg T A 4: 41,499,469 (GRCm39) R54* probably null Het
Nrap A G 19: 56,368,268 (GRCm39) S205P probably benign Het
Or4c52 A G 2: 89,846,063 (GRCm39) D263G probably damaging Het
Or52z1 A T 7: 103,437,285 (GRCm39) Y66* probably null Het
Or8b1b A G 9: 38,376,030 (GRCm39) N231S probably benign Het
Pkhd1 T A 1: 20,619,939 (GRCm39) M894L probably benign Het
Ptpn13 G A 5: 103,634,641 (GRCm39) probably null Het
Pycard T C 7: 127,592,674 (GRCm39) D9G probably damaging Het
Rbfox3 G A 11: 118,396,439 (GRCm39) probably benign Het
Scel T A 14: 103,770,774 (GRCm39) D69E possibly damaging Het
Spag6 T G 2: 18,715,284 (GRCm39) M21R possibly damaging Het
Stat5a A G 11: 100,771,898 (GRCm39) D650G probably damaging Het
Tars3 T C 7: 65,308,658 (GRCm39) I276T possibly damaging Het
Tnfaip2 G T 12: 111,412,053 (GRCm39) E151D probably damaging Het
Trio G A 15: 27,901,315 (GRCm39) T313I probably benign Het
Ubqln4 A C 3: 88,471,775 (GRCm39) M404L probably benign Het
Vps33b T A 7: 79,934,807 (GRCm39) probably null Het
Wdfy3 A T 5: 102,091,986 (GRCm39) V451D probably damaging Het
Zfp341 G T 2: 154,470,816 (GRCm39) A278S probably benign Het
Zp3r C T 1: 130,547,093 (GRCm39) A28T possibly damaging Het
Other mutations in Rnf122
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01545:Rnf122 APN 8 31,618,630 (GRCm39) missense probably damaging 0.97
R0109:Rnf122 UTSW 8 31,614,877 (GRCm39) splice site probably benign
R1263:Rnf122 UTSW 8 31,602,177 (GRCm39) start codon destroyed probably null 0.01
R1961:Rnf122 UTSW 8 31,614,874 (GRCm39) splice site probably benign
R2164:Rnf122 UTSW 8 31,602,192 (GRCm39) nonsense probably null
R4369:Rnf122 UTSW 8 31,602,177 (GRCm39) start codon destroyed probably null 0.00
R4488:Rnf122 UTSW 8 31,618,283 (GRCm39) missense probably damaging 0.98
R4964:Rnf122 UTSW 8 31,602,177 (GRCm39) start codon destroyed probably null 0.00
R6983:Rnf122 UTSW 8 31,608,488 (GRCm39) missense probably benign
R7445:Rnf122 UTSW 8 31,608,528 (GRCm39) missense possibly damaging 0.89
R8049:Rnf122 UTSW 8 31,618,608 (GRCm39) missense probably damaging 0.98
Posted On 2013-10-07