Incidental Mutation 'IGL02013:Zfp474'
ID183427
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp474
Ensembl Gene ENSMUSG00000046886
Gene Namezinc finger protein 474
Synonyms4933409D10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL02013
Quality Score
Status
Chromosome18
Chromosomal Location52615915-52639830 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 52638899 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Aspartic acid at position 208 (A208D)
Ref Sequence ENSEMBL: ENSMUSP00000147873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072666] [ENSMUST00000209270]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072666
AA Change: A208D

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000072453
Gene: ENSMUSG00000046886
AA Change: A208D

DomainStartEndE-ValueType
Pfam:zf-C2HC_2 90 114 1.8e-10 PFAM
Pfam:zf-C2HC_2 161 185 3.3e-13 PFAM
Pfam:zf-C2HC_2 217 241 1.2e-10 PFAM
low complexity region 250 267 N/A INTRINSIC
Pfam:zf-C2HC_2 280 304 1.1e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000209270
AA Change: A208D

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,047,066 Y543C probably damaging Het
Acp4 G T 7: 44,255,081 T186N probably benign Het
Adgrg6 T A 10: 14,426,811 M953L probably damaging Het
Armc4 A G 18: 7,265,157 probably benign Het
Cp C A 3: 19,988,049 H994N probably damaging Het
Csmd2 G A 4: 128,321,323 D513N possibly damaging Het
Gm28557 A G 13: 67,071,052 F248L probably benign Het
Nup155 G T 15: 8,113,648 M100I possibly damaging Het
Olfr251 G A 9: 38,378,077 M59I probably benign Het
Olfr875 A G 9: 37,772,889 I77V probably benign Het
Pgm2 G A 4: 99,983,961 probably benign Het
Reln A G 5: 21,950,879 F2205S probably damaging Het
Scmh1 G A 4: 120,483,732 R205Q possibly damaging Het
Sema3e G A 5: 14,230,193 G362D probably damaging Het
Sftpb C T 6: 72,305,671 T79I probably benign Het
Sgcd C A 11: 46,980,943 probably benign Het
Shprh T A 10: 11,181,502 probably benign Het
Ssc5d C T 7: 4,943,836 S1063F probably benign Het
Tdrd6 T C 17: 43,625,946 T1404A probably benign Het
Theg T C 10: 79,579,935 probably null Het
Vmn2r67 G A 7: 85,151,655 P358S probably benign Het
Wnk2 A T 13: 49,082,034 M635K possibly damaging Het
Other mutations in Zfp474
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Zfp474 APN 18 52638493 missense possibly damaging 0.52
IGL01651:Zfp474 APN 18 52638583 missense probably damaging 1.00
IGL01750:Zfp474 APN 18 52639277 missense possibly damaging 0.59
PIT4469001:Zfp474 UTSW 18 52638719 missense possibly damaging 0.77
PIT4618001:Zfp474 UTSW 18 52638404 missense probably damaging 0.97
R0615:Zfp474 UTSW 18 52638349 missense probably benign 0.02
R1178:Zfp474 UTSW 18 52638742 nonsense probably null
R1180:Zfp474 UTSW 18 52638742 nonsense probably null
R1610:Zfp474 UTSW 18 52638365 missense probably benign
R1819:Zfp474 UTSW 18 52638800 missense probably damaging 1.00
R4854:Zfp474 UTSW 18 52638431 missense possibly damaging 0.59
R6270:Zfp474 UTSW 18 52638364 missense probably benign
R7574:Zfp474 UTSW 18 52639189 missense probably benign 0.00
R8194:Zfp474 UTSW 18 52639157 missense probably damaging 1.00
Posted On2014-05-07