Incidental Mutation 'IGL01822:Rnf182'
ID154573
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: 0.087) question?
Stock #IGL01822
Quality Score
Status
Chromosome13
Chromosomal Location43615710-43670945 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43668032 bp
ZygosityHeterozygous
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]
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: 34,753,572 T269S probably damaging Het
Cntnap5c T A 17: 58,055,705 I351N probably damaging Het
Dhcr7 T A 7: 143,845,499 I296N probably damaging Het
Dnah17 A G 11: 118,081,993 F2038S probably damaging Het
Dsel A G 1: 111,861,896 L303P probably damaging Het
Fabp12 G A 3: 10,246,022 R127* probably null Het
Fgf12 A T 16: 28,189,599 S150T possibly damaging Het
Fkbp15 A G 4: 62,352,504 M32T probably benign Het
Lrrc66 G A 5: 73,629,968 T13I probably benign Het
Mmgt2 T C 11: 62,665,006 V60A possibly damaging Het
Neb G T 2: 52,258,746 S2596R possibly damaging Het
Nfkbib T C 7: 28,761,709 D171G probably benign Het
Oas1a T C 5: 120,899,214 E250G probably benign Het
Olfr1197 A T 2: 88,728,792 I269N probably benign Het
Olfr134 C A 17: 38,175,448 D121E probably damaging Het
Scn3a T C 2: 65,495,264 K970E probably damaging Het
Slc30a2 T A 4: 134,348,637 Y192N probably damaging Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Vmn2r100 T A 17: 19,504,838 C10S probably null Het
Vmn2r61 A T 7: 42,300,706 H850L probably benign Het
Vmn2r87 T C 10: 130,472,122 Y749C probably damaging Het
Wnt5b A T 6: 119,433,472 C336S probably damaging Het
Zfp398 G A 6: 47,866,271 R287Q probably damaging Het
Other mutations in Rnf182
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02131:Rnf182 APN 13 43668342 missense probably benign 0.05
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 On2014-02-04