Incidental Mutation 'IGL02489:Rnf182'
ID295548
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 #IGL02489
Quality Score
Status
Chromosome13
Chromosomal Location43615710-43670945 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43668303 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 110 (L110P)
Ref Sequence ENSEMBL: ENSMUSP00000062005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059986] [ENSMUST00000161817]
Predicted Effect probably damaging
Transcript: ENSMUST00000059986
AA Change: L110P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062005
Gene: ENSMUSG00000044164
AA Change: L110P

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,054,215 probably benign Het
Aldh6a1 T C 12: 84,433,972 T430A possibly damaging Het
Ankrd6 T C 4: 32,810,298 D426G probably damaging Het
Arhgef37 A G 18: 61,506,469 S280P possibly damaging Het
Bicd1 T C 6: 149,513,037 L416P probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cenpp T C 13: 49,650,118 probably null Het
Col5a2 T C 1: 45,392,811 probably null Het
Ctsa A G 2: 164,838,645 Y402C probably damaging Het
Dnah7a A G 1: 53,647,322 V223A possibly damaging Het
Dnajb3 G T 1: 88,205,310 N123K probably benign Het
Fhad1 G T 4: 141,957,620 N469K probably damaging Het
Fmo3 G T 1: 162,954,287 T499K possibly damaging Het
Gm10100 G A 10: 77,726,811 C109Y probably benign Het
Lrrc27 G T 7: 139,226,061 R214L probably benign Het
Mc5r T A 18: 68,339,526 C319S probably damaging Het
Nwd2 A C 5: 63,805,227 Y718S probably damaging Het
Olfr1097 T G 2: 86,890,995 Y60S probably damaging Het
Ppa1 T A 10: 61,665,444 D163E probably damaging Het
Ptprk G T 10: 28,383,472 G303W probably damaging Het
Slc12a2 T C 18: 57,912,002 F659S probably damaging Het
Slc5a3 T A 16: 92,077,705 Y217N possibly damaging Het
Ttc41 G T 10: 86,760,914 E1008* probably null Het
Unc80 T C 1: 66,525,701 M849T probably benign Het
Vmn2r76 A T 7: 86,228,863 I442N probably benign Het
Other mutations in Rnf182
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01822:Rnf182 APN 13 43668032 missense probably damaging 1.00
IGL02131:Rnf182 APN 13 43668342 missense probably benign 0.05
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