Incidental Mutation 'IGL00264:Zfp521'
ID3387
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp521
Ensembl Gene ENSMUSG00000024420
Gene Namezinc finger protein 521
SynonymsB930086A16Rik, Evi3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.936) question?
Stock #IGL00264
Quality Score
Status
Chromosome18
Chromosomal Location13687013-13972733 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13846502 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 285 (Y285H)
Ref Sequence ENSEMBL: ENSMUSP00000025288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025288]
Predicted Effect probably benign
Transcript: ENSMUST00000025288
AA Change: Y285H

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025288
Gene: ENSMUSG00000024420
AA Change: Y285H

DomainStartEndE-ValueType
ZnF_C2H2 47 68 3.47e1 SMART
low complexity region 82 100 N/A INTRINSIC
low complexity region 102 113 N/A INTRINSIC
ZnF_C2H2 118 140 3.89e-3 SMART
ZnF_C2H2 146 168 1.33e-1 SMART
ZnF_C2H2 174 196 1.38e-3 SMART
ZnF_C2H2 202 224 2.36e-2 SMART
ZnF_C2H2 246 269 6.57e-1 SMART
ZnF_C2H2 281 304 3.52e-1 SMART
ZnF_C2H2 310 332 1.76e-1 SMART
low complexity region 345 358 N/A INTRINSIC
ZnF_C2H2 405 429 4.34e-1 SMART
ZnF_C2H2 437 460 6.23e-2 SMART
ZnF_C2H2 477 500 8.94e-3 SMART
ZnF_C2H2 513 536 5.42e-2 SMART
ZnF_C2H2 560 585 1.86e0 SMART
ZnF_C2H2 634 656 1.12e-3 SMART
ZnF_C2H2 664 686 2.12e-4 SMART
ZnF_C2H2 694 717 6.42e-4 SMART
ZnF_C2H2 722 745 7.78e-3 SMART
ZnF_C2H2 752 775 6.32e-3 SMART
ZnF_C2H2 783 805 2.05e-2 SMART
ZnF_C2H2 809 832 4.72e-2 SMART
ZnF_C2H2 886 909 1.86e0 SMART
ZnF_C2H2 930 952 3.04e-5 SMART
ZnF_C2H2 959 981 6.42e-4 SMART
ZnF_C2H2 988 1010 7.49e0 SMART
ZnF_C2H2 1020 1042 4.99e1 SMART
Blast:RING 1067 1098 1e-9 BLAST
low complexity region 1099 1119 N/A INTRINSIC
ZnF_C2H2 1138 1161 1.79e-2 SMART
ZnF_C2H2 1195 1217 2.53e-2 SMART
ZnF_C2H2 1225 1247 2.32e-1 SMART
ZnF_C2H2 1256 1279 2.91e-2 SMART
ZnF_C2H2 1286 1309 5.72e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit postnatal growth retardation, behavioral anomalies including hyperlocomotion, lower anxiety, higher impulsivity and impaired learning, abnormal formation of the neuronal cell layers of the dentate gyrus in the hippocampus, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik T C 18: 12,179,219 V172A probably benign Het
Actr3 T G 1: 125,397,229 I319L probably benign Het
Akap7 C T 10: 25,171,240 D20N probably benign Het
Ambra1 T A 2: 91,911,589 S1070T probably benign Het
Arhgef9 T C X: 95,081,631 probably null Het
Ascc3 T G 10: 50,714,435 V1083G probably damaging Het
Asns T A 6: 7,680,179 E312D probably damaging Het
Bpifc A C 10: 85,960,528 V472G possibly damaging Het
Ccdc71 T A 9: 108,463,038 S17T probably damaging Het
Cebpzos T C 17: 78,918,348 probably benign Het
Cfi T C 3: 129,873,095 I489T probably damaging Het
Chrm2 T A 6: 36,523,391 F61Y probably damaging Het
Cpxm1 T C 2: 130,395,943 Y149C probably damaging Het
Dnah6 A G 6: 73,195,737 I246T probably benign Het
Ereg C A 5: 91,074,779 S7Y probably benign Het
Ghsr T A 3: 27,374,873 L349Q possibly damaging Het
Gm10754 A G 10: 97,682,412 probably benign Het
Gm8237 A T 14: 5,864,475 L29H probably benign Het
Hexim2 A G 11: 103,138,455 E111G probably damaging Het
Itga1 A T 13: 114,992,363 N586K possibly damaging Het
Kat6b A G 14: 21,668,559 D1102G probably benign Het
Kif27 A T 13: 58,337,604 M514K probably benign Het
Matn2 T C 15: 34,428,470 I660T probably damaging Het
Mki67 C A 7: 135,707,820 G301* probably null Het
Olfr1451 A G 19: 12,999,319 Y111C probably damaging Het
Olfr1480 A C 19: 13,529,850 Y103S probably damaging Het
Olfr364-ps1 T C 2: 37,147,067 F285S probably damaging Het
Olfr539 T A 7: 140,667,941 I211N probably benign Het
Pcdhb8 A T 18: 37,355,473 H68L probably benign Het
Pkhd1l1 T C 15: 44,491,029 V272A possibly damaging Het
Pstpip2 T C 18: 77,871,559 probably benign Het
Rdh14 G T 12: 10,391,134 G99W probably damaging Het
Sra1 A T 18: 36,668,739 S99R probably benign Het
Tbrg1 G T 9: 37,651,041 N280K probably benign Het
Ugt8a A G 3: 125,914,636 probably null Het
Usp40 A T 1: 88,004,238 probably benign Het
Vmn1r45 T A 6: 89,933,664 Y108F probably damaging Het
Other mutations in Zfp521
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Zfp521 APN 18 13939120 missense probably benign 0.25
IGL01291:Zfp521 APN 18 13817246 missense probably damaging 1.00
IGL01335:Zfp521 APN 18 13844719 missense probably benign 0.31
IGL01384:Zfp521 APN 18 13843923 missense probably benign 0.26
IGL01520:Zfp521 APN 18 13938988 missense possibly damaging 0.92
IGL02248:Zfp521 APN 18 13844246 missense possibly damaging 0.93
IGL02640:Zfp521 APN 18 13844930 missense probably benign 0.00
ANU05:Zfp521 UTSW 18 13817246 missense probably damaging 1.00
R0113:Zfp521 UTSW 18 13845091 missense probably damaging 1.00
R0197:Zfp521 UTSW 18 13845062 missense probably benign 0.00
R0457:Zfp521 UTSW 18 13844840 missense probably benign
R0494:Zfp521 UTSW 18 13845268 missense probably damaging 1.00
R0494:Zfp521 UTSW 18 13846870 missense probably damaging 1.00
R0883:Zfp521 UTSW 18 13845062 missense probably benign 0.00
R2133:Zfp521 UTSW 18 13844705 missense possibly damaging 0.88
R2263:Zfp521 UTSW 18 13846240 missense possibly damaging 0.89
R3699:Zfp521 UTSW 18 13846273 nonsense probably null
R3760:Zfp521 UTSW 18 13844629 missense possibly damaging 0.93
R3851:Zfp521 UTSW 18 13717751 splice site probably benign
R3950:Zfp521 UTSW 18 13846346 missense probably damaging 0.99
R4398:Zfp521 UTSW 18 13846544 missense probably benign 0.26
R4583:Zfp521 UTSW 18 13844330 missense probably benign 0.19
R4688:Zfp521 UTSW 18 13844590 missense probably damaging 1.00
R4688:Zfp521 UTSW 18 13844591 nonsense probably null
R4698:Zfp521 UTSW 18 13845603 missense probably damaging 0.96
R4738:Zfp521 UTSW 18 13844054 missense possibly damaging 0.50
R5031:Zfp521 UTSW 18 13844273 missense possibly damaging 0.68
R5137:Zfp521 UTSW 18 13845448 missense probably damaging 1.00
R5257:Zfp521 UTSW 18 13846978 missense probably damaging 1.00
R5420:Zfp521 UTSW 18 13844087 missense probably damaging 1.00
R5917:Zfp521 UTSW 18 13845555 missense probably damaging 0.98
R5995:Zfp521 UTSW 18 13717624 missense probably damaging 1.00
R6088:Zfp521 UTSW 18 13846109 missense possibly damaging 0.47
R6150:Zfp521 UTSW 18 13844078 missense probably damaging 1.00
R6261:Zfp521 UTSW 18 13844627 missense probably damaging 1.00
R7649:Zfp521 UTSW 18 13844356 missense probably damaging 1.00
R7662:Zfp521 UTSW 18 13844116 missense probably damaging 1.00
R7774:Zfp521 UTSW 18 13845781 missense probably benign 0.41
Z1176:Zfp521 UTSW 18 13715163 missense probably damaging 1.00
Posted On2012-04-20