Incidental Mutation 'IGL01609:Rnf11'
ID 91901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf11
Ensembl Gene ENSMUSG00000028557
Gene Name ring finger protein 11
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL01609
Quality Score
Status
Chromosome 4
Chromosomal Location 109310054-109333702 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109314173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 72 (Q72L)
Ref Sequence ENSEMBL: ENSMUSP00000115779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030284] [ENSMUST00000064167] [ENSMUST00000145980]
AlphaFold Q9QYK7
Predicted Effect possibly damaging
Transcript: ENSMUST00000030284
AA Change: Q72L

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030284
Gene: ENSMUSG00000028557
AA Change: Q72L

DomainStartEndE-ValueType
low complexity region 31 47 N/A INTRINSIC
RING 99 139 1.1e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000064167
AA Change: Q72L

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063798
Gene: ENSMUSG00000028557
AA Change: Q72L

DomainStartEndE-ValueType
low complexity region 31 47 N/A INTRINSIC
RING 99 139 1.1e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000145980
AA Change: Q72L

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115779
Gene: ENSMUSG00000028557
AA Change: Q72L

DomainStartEndE-ValueType
low complexity region 31 47 N/A INTRINSIC
RING 99 139 1.1e-6 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-H2 finger motif, which is known to be important for protein-protein interactions. The expression of this gene has been shown to be induced by mutant RET proteins (MEN2A/MEN2B). The germline mutations in RET gene are known to be responsible for the development of multiple endocrine neoplasia (MEN). [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,955,092 (GRCm39) V299A probably benign Het
Actr5 T C 2: 158,478,722 (GRCm39) probably null Het
Arhgap18 A G 10: 26,756,744 (GRCm39) D448G possibly damaging Het
Bcl9 T C 3: 97,116,291 (GRCm39) E801G probably benign Het
Bin1 A G 18: 32,552,978 (GRCm39) N232S probably damaging Het
Brf1 A C 12: 112,927,211 (GRCm39) Y459D probably damaging Het
Clca4a T A 3: 144,659,541 (GRCm39) I772F probably damaging Het
Cyp2a4 G A 7: 26,008,088 (GRCm39) probably null Het
Dync1i2 T A 2: 71,077,352 (GRCm39) probably benign Het
Frem3 T A 8: 81,339,333 (GRCm39) M542K probably benign Het
Gpbp1 T C 13: 111,575,736 (GRCm39) T256A possibly damaging Het
Ighm T C 12: 113,384,854 (GRCm39) probably benign Het
Igkv3-12 A G 6: 70,495,232 (GRCm39) probably benign Het
Kdm4d A G 9: 14,375,714 (GRCm39) V48A probably damaging Het
Lama2 T C 10: 27,220,417 (GRCm39) S483G probably benign Het
Lbp A C 2: 158,170,332 (GRCm39) Q464P probably damaging Het
Lipo4 T C 19: 33,476,654 (GRCm39) T365A probably benign Het
Mark3 T C 12: 111,593,956 (GRCm39) F274S probably damaging Het
Mcm3 A T 1: 20,884,904 (GRCm39) probably benign Het
Mrpl9 T A 3: 94,352,001 (GRCm39) F137I probably damaging Het
Msh4 G T 3: 153,603,034 (GRCm39) A93E probably damaging Het
Mthfd1l T A 10: 3,968,567 (GRCm39) D407E probably benign Het
Or10j7 G A 1: 173,011,843 (GRCm39) H53Y probably benign Het
Or12d12 C T 17: 37,610,629 (GRCm39) R228H probably benign Het
Or1i2 A C 10: 78,447,960 (GRCm39) S172A probably benign Het
Pcsk2 G T 2: 143,643,078 (GRCm39) V452L possibly damaging Het
Pcsk6 G A 7: 65,685,021 (GRCm39) probably null Het
Pmfbp1 A G 8: 110,254,348 (GRCm39) E461G probably benign Het
Pole2 A G 12: 69,254,631 (GRCm39) probably null Het
Postn T C 3: 54,276,649 (GRCm39) M176T probably damaging Het
Prss12 T A 3: 123,276,483 (GRCm39) C371S probably damaging Het
Rrad A G 8: 105,356,456 (GRCm39) probably null Het
Slitrk3 T A 3: 72,957,570 (GRCm39) I401F probably damaging Het
Themis A G 10: 28,544,749 (GRCm39) probably benign Het
Tmem45a A G 16: 56,631,928 (GRCm39) I230T probably benign Het
Tnni1 C A 1: 135,733,234 (GRCm39) probably null Het
Trpa1 A T 1: 14,982,607 (GRCm39) I83N probably damaging Het
Uggt1 T C 1: 36,221,555 (GRCm39) Y54C probably damaging Het
Umodl1 C T 17: 31,217,800 (GRCm39) T1202I possibly damaging Het
Unc93a2 A G 17: 7,637,138 (GRCm39) V130A probably damaging Het
Usp37 G A 1: 74,514,199 (GRCm39) A324V probably benign Het
Zfp808 T A 13: 62,321,023 (GRCm39) C751S probably damaging Het
Other mutations in Rnf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0457:Rnf11 UTSW 4 109,314,149 (GRCm39) missense probably damaging 1.00
R0523:Rnf11 UTSW 4 109,314,119 (GRCm39) missense probably benign 0.00
X0025:Rnf11 UTSW 4 109,333,408 (GRCm39) missense probably benign 0.00
Posted On 2013-12-09