Incidental Mutation 'IGL02363:Rnf185'
ID 290614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf185
Ensembl Gene ENSMUSG00000020448
Gene Name ring finger protein 185
Synonyms 1700022N24Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.330) question?
Stock # IGL02363
Quality Score
Status
Chromosome 11
Chromosomal Location 3365982-3402363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3368015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 221 (I221T)
Ref Sequence ENSEMBL: ENSMUSP00000067053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064364] [ENSMUST00000077078]
AlphaFold Q91YT2
Predicted Effect possibly damaging
Transcript: ENSMUST00000064364
AA Change: I221T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000067053
Gene: ENSMUSG00000020448
AA Change: I221T

DomainStartEndE-ValueType
low complexity region 50 68 N/A INTRINSIC
RING 75 115 9.23e-9 SMART
low complexity region 143 154 N/A INTRINSIC
transmembrane domain 167 189 N/A INTRINSIC
transmembrane domain 209 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077078
AA Change: I185T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000076333
Gene: ENSMUSG00000020448
AA Change: I185T

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
RING 39 79 9.23e-9 SMART
low complexity region 107 118 N/A INTRINSIC
transmembrane domain 131 153 N/A INTRINSIC
transmembrane domain 173 191 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144055
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak8 T C 2: 28,702,910 (GRCm39) S425P probably damaging Het
Comt T C 16: 18,229,881 (GRCm39) D153G probably benign Het
Cplane1 A T 15: 8,247,921 (GRCm39) H1490L possibly damaging Het
Exoc6 T C 19: 37,597,402 (GRCm39) I601T probably damaging Het
F11 A T 8: 45,694,568 (GRCm39) C598S probably damaging Het
Galnt13 G T 2: 55,002,872 (GRCm39) D524Y probably damaging Het
Glb1l3 T C 9: 26,764,940 (GRCm39) E157G probably damaging Het
Hc T C 2: 34,890,847 (GRCm39) H1323R probably benign Het
Hsd3b5 T C 3: 98,537,421 (GRCm39) I32V probably benign Het
Il6ra A G 3: 89,778,560 (GRCm39) S430P probably benign Het
Lama2 G T 10: 27,242,062 (GRCm39) T298K probably damaging Het
Nedd4l T C 18: 65,341,116 (GRCm39) probably benign Het
Ntrk3 T C 7: 78,103,085 (GRCm39) D405G probably benign Het
Opn5 T C 17: 42,868,382 (GRCm39) D371G probably benign Het
Pcdh15 G T 10: 74,152,918 (GRCm39) A408S probably damaging Het
Pim3 T C 15: 88,747,116 (GRCm39) V54A probably benign Het
Prdm5 T C 6: 65,771,303 (GRCm39) F38S probably damaging Het
Ptgs2 C T 1: 149,981,460 (GRCm39) probably null Het
Slc27a2 T C 2: 126,420,870 (GRCm39) F318L possibly damaging Het
Spata1 T C 3: 146,193,119 (GRCm39) Y124C possibly damaging Het
Tmie G T 9: 110,699,821 (GRCm39) probably benign Het
Tph2 T C 10: 114,915,886 (GRCm39) K429R probably benign Het
Usp32 A G 11: 84,935,613 (GRCm39) Y388H probably benign Het
Vmn2r60 A T 7: 41,844,578 (GRCm39) Q647L probably benign Het
Other mutations in Rnf185
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0026:Rnf185 UTSW 11 3,376,617 (GRCm39) missense probably damaging 0.99
R2111:Rnf185 UTSW 11 3,382,393 (GRCm39) splice site probably benign
R2225:Rnf185 UTSW 11 3,382,445 (GRCm39) missense probably damaging 1.00
R2508:Rnf185 UTSW 11 3,368,067 (GRCm39) missense probably benign 0.00
R3907:Rnf185 UTSW 11 3,376,681 (GRCm39) splice site probably benign
R4767:Rnf185 UTSW 11 3,382,551 (GRCm39) missense possibly damaging 0.83
R7193:Rnf185 UTSW 11 3,375,329 (GRCm39) missense possibly damaging 0.66
R7449:Rnf185 UTSW 11 3,376,578 (GRCm39) missense probably benign 0.27
R8754:Rnf185 UTSW 11 3,368,052 (GRCm39) missense probably benign 0.12
R9404:Rnf185 UTSW 11 3,382,615 (GRCm39) nonsense probably null
Posted On 2015-04-16