Incidental Mutation 'IGL02363:Rnf185'
ID290614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf185
Ensembl Gene ENSMUSG00000020448
Gene Namering finger protein 185
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL02363
Quality Score
Status
Chromosome11
Chromosomal Location3415982-3452363 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3418015 bp
ZygosityHeterozygous
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]
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
2410089E03Rik A T 15: 8,218,437 H1490L possibly damaging Het
Ak8 T C 2: 28,812,898 S425P probably damaging Het
Comt T C 16: 18,411,131 D153G probably benign Het
Exoc6 T C 19: 37,608,954 I601T probably damaging Het
F11 A T 8: 45,241,531 C598S probably damaging Het
Galnt13 G T 2: 55,112,860 D524Y probably damaging Het
Glb1l3 T C 9: 26,853,644 E157G probably damaging Het
Hc T C 2: 35,000,835 H1323R probably benign Het
Hsd3b5 T C 3: 98,630,105 I32V probably benign Het
Il6ra A G 3: 89,871,253 S430P probably benign Het
Lama2 G T 10: 27,366,066 T298K probably damaging Het
Nedd4l T C 18: 65,208,045 probably benign Het
Ntrk3 T C 7: 78,453,337 D405G probably benign Het
Opn5 T C 17: 42,557,491 D371G probably benign Het
Pcdh15 G T 10: 74,317,086 A408S probably damaging Het
Pim3 T C 15: 88,862,913 V54A probably benign Het
Prdm5 T C 6: 65,794,319 F38S probably damaging Het
Ptgs2 C T 1: 150,105,709 probably null Het
Slc27a2 T C 2: 126,578,950 F318L possibly damaging Het
Spata1 T C 3: 146,487,364 Y124C possibly damaging Het
Tmie G T 9: 110,870,753 probably benign Het
Tph2 T C 10: 115,079,981 K429R probably benign Het
Usp32 A G 11: 85,044,787 Y388H probably benign Het
Vmn2r60 A T 7: 42,195,154 Q647L probably benign Het
Other mutations in Rnf185
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0026:Rnf185 UTSW 11 3426617 missense probably damaging 0.99
R2111:Rnf185 UTSW 11 3432393 splice site probably benign
R2225:Rnf185 UTSW 11 3432445 missense probably damaging 1.00
R2508:Rnf185 UTSW 11 3418067 missense probably benign 0.00
R3907:Rnf185 UTSW 11 3426681 splice site probably benign
R4767:Rnf185 UTSW 11 3432551 missense possibly damaging 0.83
Posted On2015-04-16