Incidental Mutation 'IGL01062:Zfp454'
ID52194
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp454
Ensembl Gene ENSMUSG00000048728
Gene Namezinc finger protein 454
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01062
Quality Score
Status
Chromosome11
Chromosomal Location50872720-50887651 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 50874206 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 22 (E22G)
Ref Sequence ENSEMBL: ENSMUSP00000104759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050595] [ENSMUST00000109131] [ENSMUST00000125749] [ENSMUST00000163301]
Predicted Effect probably benign
Transcript: ENSMUST00000050595
AA Change: E133G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000061824
Gene: ENSMUSG00000048728
AA Change: E133G

DomainStartEndE-ValueType
KRAB 14 75 1.35e-29 SMART
ZnF_C2H2 191 213 9.73e-4 SMART
ZnF_C2H2 230 252 6.32e-3 SMART
ZnF_C2H2 258 280 2.4e-3 SMART
ZnF_C2H2 286 308 8.22e-2 SMART
ZnF_C2H2 314 336 1.33e-1 SMART
ZnF_C2H2 342 364 1.84e-4 SMART
ZnF_C2H2 370 392 9.73e-4 SMART
ZnF_C2H2 398 420 5.21e-4 SMART
ZnF_C2H2 426 448 4.87e-4 SMART
ZnF_C2H2 454 476 2.12e-4 SMART
ZnF_C2H2 482 504 1.04e-3 SMART
ZnF_C2H2 510 532 2.95e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109131
AA Change: E22G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104759
Gene: ENSMUSG00000048728
AA Change: E22G

DomainStartEndE-ValueType
ZnF_C2H2 80 102 9.73e-4 SMART
ZnF_C2H2 119 141 6.32e-3 SMART
ZnF_C2H2 147 169 2.4e-3 SMART
ZnF_C2H2 175 197 8.22e-2 SMART
ZnF_C2H2 203 225 1.33e-1 SMART
ZnF_C2H2 231 253 1.84e-4 SMART
ZnF_C2H2 259 281 9.73e-4 SMART
ZnF_C2H2 287 309 5.21e-4 SMART
ZnF_C2H2 315 337 4.87e-4 SMART
ZnF_C2H2 343 365 2.12e-4 SMART
ZnF_C2H2 371 393 1.04e-3 SMART
ZnF_C2H2 399 421 2.95e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125749
SMART Domains Protein: ENSMUSP00000122658
Gene: ENSMUSG00000048728

DomainStartEndE-ValueType
KRAB 14 75 1.35e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136599
Predicted Effect probably benign
Transcript: ENSMUST00000163301
AA Change: E133G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000129125
Gene: ENSMUSG00000048728
AA Change: E133G

DomainStartEndE-ValueType
KRAB 14 75 1.35e-29 SMART
ZnF_C2H2 191 213 9.73e-4 SMART
ZnF_C2H2 230 252 6.32e-3 SMART
ZnF_C2H2 258 280 2.4e-3 SMART
ZnF_C2H2 286 308 8.22e-2 SMART
ZnF_C2H2 314 336 1.33e-1 SMART
ZnF_C2H2 342 364 1.84e-4 SMART
ZnF_C2H2 370 392 9.73e-4 SMART
ZnF_C2H2 398 420 5.21e-4 SMART
ZnF_C2H2 426 448 4.87e-4 SMART
ZnF_C2H2 454 476 2.12e-4 SMART
ZnF_C2H2 482 504 1.04e-3 SMART
ZnF_C2H2 510 532 2.95e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T A 4: 41,511,433 E93D probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Amer3 A G 1: 34,586,739 K20E probably damaging Het
Arhgap31 A G 16: 38,601,456 L1416P probably damaging Het
Avpr1a G A 10: 122,449,529 C242Y probably damaging Het
Bclaf3 T C X: 159,553,419 Y281H probably benign Het
Cdc14a T A 3: 116,274,712 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cntn4 T C 6: 106,618,278 probably benign Het
Cyp3a44 T A 5: 145,794,339 D217V possibly damaging Het
Eprs A G 1: 185,379,615 E274G probably benign Het
Ercc6l2 G T 13: 63,847,454 Q354H probably null Het
Glb1l A T 1: 75,201,238 I392N probably damaging Het
Gm3173 T C 14: 4,514,887 probably null Het
Grasp A G 15: 101,228,896 probably benign Het
Hadh C T 3: 131,240,991 V219M probably damaging Het
Hspb9 A G 11: 100,713,935 H29R possibly damaging Het
Iqgap3 G T 3: 88,110,122 V240L probably benign Het
Jmjd1c T C 10: 67,226,715 S1616P probably damaging Het
Knl1 A G 2: 119,076,980 I1662V probably benign Het
Mapre3 A G 5: 30,864,896 I236V probably benign Het
Med17 T C 9: 15,279,621 E58G probably benign Het
Myh6 T C 14: 54,952,292 E1099G probably damaging Het
Myt1 T A 2: 181,797,729 V348D probably damaging Het
Nat10 A T 2: 103,743,048 I368N probably damaging Het
Nol6 T C 4: 41,118,205 I811V probably benign Het
Oas1d C A 5: 120,919,064 Y244* probably null Het
Olfr49 A T 14: 54,282,724 M57K probably damaging Het
Osbpl1a A G 18: 12,905,075 V273A probably benign Het
Pigw T C 11: 84,877,943 R187G probably benign Het
Plekhg5 G A 4: 152,108,496 D603N probably damaging Het
Ptprk T C 10: 28,580,418 V1058A probably damaging Het
Robo4 G A 9: 37,406,000 S537N probably benign Het
Rptn T A 3: 93,397,182 F607L probably benign Het
Sall1 A G 8: 89,033,344 V44A probably damaging Het
Sh3bp4 C A 1: 89,143,960 Q177K probably benign Het
Srrt C A 5: 137,296,307 G779V probably damaging Het
Tex21 T C 12: 76,198,944 D526G probably benign Het
Tmem57 A T 4: 134,833,297 V125E probably damaging Het
Ttc37 T A 13: 76,155,462 L1225* probably null Het
Vmn1r10 A G 6: 57,113,836 S138G possibly damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zzef1 T A 11: 72,874,969 C1441S probably benign Het
Other mutations in Zfp454
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Zfp454 APN 11 50883735 missense probably benign
R0109:Zfp454 UTSW 11 50883775 missense possibly damaging 0.71
R0606:Zfp454 UTSW 11 50874185 missense probably benign 0.00
R0743:Zfp454 UTSW 11 50873937 missense probably benign 0.01
R0884:Zfp454 UTSW 11 50873937 missense probably benign 0.01
R1181:Zfp454 UTSW 11 50873586 missense probably damaging 1.00
R1377:Zfp454 UTSW 11 50873780 missense probably damaging 1.00
R2126:Zfp454 UTSW 11 50873995 missense probably benign 0.44
R4869:Zfp454 UTSW 11 50873153 missense probably damaging 1.00
R4973:Zfp454 UTSW 11 50874123 missense probably benign
R5379:Zfp454 UTSW 11 50883802 missense probably damaging 0.99
R5997:Zfp454 UTSW 11 50873622 missense probably damaging 1.00
R6321:Zfp454 UTSW 11 50873049 missense probably damaging 0.98
R6490:Zfp454 UTSW 11 50874123 missense probably benign
R6892:Zfp454 UTSW 11 50873198 missense probably damaging 1.00
R7362:Zfp454 UTSW 11 50886367 critical splice donor site probably null
R7650:Zfp454 UTSW 11 50883753 missense probably damaging 0.98
Posted On2013-06-21