Incidental Mutation 'IGL01822:Rnf182'
ID 154573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf182
Ensembl Gene ENSMUSG00000044164
Gene Name ring finger protein 182
Synonyms C630023L15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL01822
Quality Score
Status
Chromosome 13
Chromosomal Location 43769186-43824421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43821508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 20 (C20R)
Ref Sequence ENSEMBL: ENSMUSP00000062005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059986] [ENSMUST00000161817]
AlphaFold Q8C432
Predicted Effect probably damaging
Transcript: ENSMUST00000059986
AA Change: C20R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062005
Gene: ENSMUSG00000044164
AA Change: C20R

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 damaging
Transcript: ENSMUST00000161817
AA Change: C20R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cald1 A T 6: 34,730,507 (GRCm39) T269S probably damaging Het
Cntnap5c T A 17: 58,362,700 (GRCm39) I351N probably damaging Het
Dhcr7 T A 7: 143,399,236 (GRCm39) I296N probably damaging Het
Dnah17 A G 11: 117,972,819 (GRCm39) F2038S probably damaging Het
Dsel A G 1: 111,789,626 (GRCm39) L303P probably damaging Het
Fabp12 G A 3: 10,311,082 (GRCm39) R127* probably null Het
Fgf12 A T 16: 28,008,351 (GRCm39) S150T possibly damaging Het
Fkbp15 A G 4: 62,270,741 (GRCm39) M32T probably benign Het
Lrrc66 G A 5: 73,787,311 (GRCm39) T13I probably benign Het
Mmgt2 T C 11: 62,555,832 (GRCm39) V60A possibly damaging Het
Neb G T 2: 52,148,758 (GRCm39) S2596R possibly damaging Het
Nfkbib T C 7: 28,461,134 (GRCm39) D171G probably benign Het
Oas1a T C 5: 121,037,277 (GRCm39) E250G probably benign Het
Or2n1 C A 17: 38,486,339 (GRCm39) D121E probably damaging Het
Or4a27 A T 2: 88,559,136 (GRCm39) I269N probably benign Het
Scn3a T C 2: 65,325,608 (GRCm39) K970E probably damaging Het
Slc30a2 T A 4: 134,075,948 (GRCm39) Y192N probably damaging Het
Ttn C T 2: 76,616,670 (GRCm39) E16528K possibly damaging Het
Vmn2r100 T A 17: 19,725,100 (GRCm39) C10S probably null Het
Vmn2r61 A T 7: 41,950,130 (GRCm39) H850L probably benign Het
Vmn2r87 T C 10: 130,307,991 (GRCm39) Y749C probably damaging Het
Wnt5b A T 6: 119,410,433 (GRCm39) C336S probably damaging Het
Zfp398 G A 6: 47,843,205 (GRCm39) R287Q probably damaging Het
Other mutations in Rnf182
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02131:Rnf182 APN 13 43,821,818 (GRCm39) missense probably benign 0.05
IGL02489:Rnf182 APN 13 43,821,779 (GRCm39) missense probably damaging 1.00
PIT4449001:Rnf182 UTSW 13 43,822,153 (GRCm39) missense probably benign 0.00
R0507:Rnf182 UTSW 13 43,821,823 (GRCm39) missense probably benign 0.02
R1826:Rnf182 UTSW 13 43,822,010 (GRCm39) nonsense probably null
R1827:Rnf182 UTSW 13 43,822,010 (GRCm39) nonsense probably null
R1828:Rnf182 UTSW 13 43,822,010 (GRCm39) nonsense probably null
R1856:Rnf182 UTSW 13 43,821,518 (GRCm39) missense probably damaging 1.00
R1909:Rnf182 UTSW 13 43,821,899 (GRCm39) missense probably benign 0.03
R2151:Rnf182 UTSW 13 43,821,899 (GRCm39) missense probably benign 0.03
R5874:Rnf182 UTSW 13 43,821,563 (GRCm39) missense probably benign
R6005:Rnf182 UTSW 13 43,821,511 (GRCm39) missense probably damaging 0.99
R6505:Rnf182 UTSW 13 43,822,147 (GRCm39) nonsense probably null
Posted On 2014-02-04