Incidental Mutation 'IGL02131:Rnf182'
ID281191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf182
Ensembl Gene ENSMUSG00000044164
Gene Namering finger protein 182
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL02131
Quality Score
Status
Chromosome13
Chromosomal Location43615710-43670945 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43668342 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 123 (H123R)
Ref Sequence ENSEMBL: ENSMUSP00000062005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059986] [ENSMUST00000161817]
Predicted Effect probably benign
Transcript: ENSMUST00000059986
AA Change: H123R

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000062005
Gene: ENSMUSG00000044164
AA Change: H123R

DomainStartEndE-ValueType
RING 20 67 2.17e-5 SMART
low complexity region 101 112 N/A INTRINSIC
transmembrane domain 184 206 N/A INTRINSIC
transmembrane domain 211 233 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161817
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik T A 17: 79,627,655 probably benign Het
Adamts19 A G 18: 59,052,660 Y1202C probably damaging Het
Adgrf1 T A 17: 43,303,747 F241I probably damaging Het
Ankrd11 A T 8: 122,894,410 I901N probably damaging Het
Anxa8 A T 14: 34,090,631 D46V possibly damaging Het
Ap4e1 A G 2: 127,061,929 Y917C probably benign Het
Arhgap40 G A 2: 158,531,939 probably null Het
Dnah17 A G 11: 118,072,908 V2513A probably damaging Het
Dnhd1 T C 7: 105,720,802 L4478P probably damaging Het
Dtx3 T C 10: 127,193,279 D30G probably damaging Het
Fat2 A G 11: 55,309,042 Y1069H probably damaging Het
Fbxo21 T A 5: 118,002,090 N538K possibly damaging Het
Frem1 T C 4: 82,924,854 T1748A probably benign Het
Kcnh6 T C 11: 106,020,175 Y466H probably damaging Het
Kif2c G A 4: 117,177,953 S41L possibly damaging Het
Kir3dl2 T A X: 136,457,713 H52L possibly damaging Het
Mageb18 A G X: 92,120,049 C196R possibly damaging Het
Mrpl9 T A 3: 94,444,713 probably null Het
Nt5c1b A G 12: 10,375,491 I345V possibly damaging Het
Olfr137 T A 17: 38,304,648 H271L probably benign Het
Olfr251 A G 9: 38,377,907 T9A probably benign Het
Olfr517 T C 7: 108,868,208 *315W probably null Het
Parp8 T C 13: 116,910,873 N221S probably benign Het
Plbd1 T C 6: 136,661,683 probably benign Het
Recql5 C A 11: 115,923,242 W86L probably benign Het
Rgs6 T C 12: 83,069,495 S232P probably damaging Het
Rtf2 A G 2: 172,466,292 T204A unknown Het
Sema4d T C 13: 51,702,937 probably null Het
Sept8 T C 11: 53,537,857 S408P possibly damaging Het
Serpini1 A G 3: 75,640,704 N396D probably benign Het
Slc26a2 A C 18: 61,198,812 F516V possibly damaging Het
Tcf4 A G 18: 69,564,626 probably benign Het
Trrap G T 5: 144,840,436 G3045W probably damaging Het
Tspo2 T A 17: 48,449,061 T91S possibly damaging Het
Ttn T C 2: 76,737,614 D27645G probably damaging Het
Uba6 G T 5: 86,150,077 T246K probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Wwp2 T A 8: 107,552,318 M136K probably damaging Het
Zranb3 A T 1: 127,992,951 V412D probably damaging Het
Other mutations in Rnf182
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01822:Rnf182 APN 13 43668032 missense probably damaging 1.00
IGL02489:Rnf182 APN 13 43668303 missense probably damaging 1.00
PIT4449001:Rnf182 UTSW 13 43668677 missense probably benign 0.00
R0507:Rnf182 UTSW 13 43668347 missense probably benign 0.02
R1826:Rnf182 UTSW 13 43668534 nonsense probably null
R1827:Rnf182 UTSW 13 43668534 nonsense probably null
R1828:Rnf182 UTSW 13 43668534 nonsense probably null
R1856:Rnf182 UTSW 13 43668042 missense probably damaging 1.00
R1909:Rnf182 UTSW 13 43668423 missense probably benign 0.03
R2151:Rnf182 UTSW 13 43668423 missense probably benign 0.03
R5874:Rnf182 UTSW 13 43668087 missense probably benign
R6005:Rnf182 UTSW 13 43668035 missense probably damaging 0.99
R6505:Rnf182 UTSW 13 43668671 nonsense probably null
Posted On2015-04-16