Incidental Mutation 'ANU05:Zfp521'
ID 262518
Institutional Source Beutler Lab
Gene Symbol Zfp521
Ensembl Gene ENSMUSG00000024420
Gene Name zinc finger protein 521
Synonyms Evi3, B930086A16Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # ANU05
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 13820070-14105812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13950303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1217 (H1217R)
Ref Sequence ENSEMBL: ENSMUSP00000025288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025288]
AlphaFold Q6KAS7
Predicted Effect probably damaging
Transcript: ENSMUST00000025288
AA Change: H1217R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025288
Gene: ENSMUSG00000024420
AA Change: H1217R

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Agl A G 3: 116,566,438 (GRCm39) I975T possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Ccar1 T A 10: 62,592,428 (GRCm39) E708V probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Epdr1 T C 13: 19,778,814 (GRCm39) Y94C probably damaging Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Irx4 A G 13: 73,415,786 (GRCm39) T192A probably damaging Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
L3mbtl1 T C 2: 162,812,100 (GRCm39) V715A probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
Lgr5 T C 10: 115,314,439 (GRCm39) H166R probably damaging Het
M6pr A G 6: 122,289,218 (GRCm39) R9G probably benign Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Or8k30 G A 2: 86,339,513 (GRCm39) A237T possibly damaging Het
Pank4 T C 4: 155,059,103 (GRCm39) M412T probably damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rab11fip3 T C 17: 26,235,087 (GRCm39) T28A probably damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Srrm4 C T 5: 116,605,628 (GRCm39) E210K unknown Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tap2 A T 17: 34,428,184 (GRCm39) Q286L probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfyve1 A T 12: 83,601,779 (GRCm39) F110I probably benign Het
Other mutations in Zfp521
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Zfp521 APN 18 13,979,559 (GRCm39) missense probably benign 0.15
IGL00499:Zfp521 APN 18 14,072,177 (GRCm39) missense probably benign 0.25
IGL01291:Zfp521 APN 18 13,950,303 (GRCm39) missense probably damaging 1.00
IGL01335:Zfp521 APN 18 13,977,776 (GRCm39) missense probably benign 0.31
IGL01384:Zfp521 APN 18 13,976,980 (GRCm39) missense probably benign 0.26
IGL01520:Zfp521 APN 18 14,072,045 (GRCm39) missense possibly damaging 0.92
IGL02248:Zfp521 APN 18 13,977,303 (GRCm39) missense possibly damaging 0.93
IGL02640:Zfp521 APN 18 13,977,987 (GRCm39) missense probably benign 0.00
R0113:Zfp521 UTSW 18 13,978,148 (GRCm39) missense probably damaging 1.00
R0197:Zfp521 UTSW 18 13,978,119 (GRCm39) missense probably benign 0.00
R0457:Zfp521 UTSW 18 13,977,897 (GRCm39) missense probably benign
R0494:Zfp521 UTSW 18 13,979,927 (GRCm39) missense probably damaging 1.00
R0494:Zfp521 UTSW 18 13,978,325 (GRCm39) missense probably damaging 1.00
R0883:Zfp521 UTSW 18 13,978,119 (GRCm39) missense probably benign 0.00
R2133:Zfp521 UTSW 18 13,977,762 (GRCm39) missense possibly damaging 0.88
R2263:Zfp521 UTSW 18 13,979,297 (GRCm39) missense possibly damaging 0.89
R3699:Zfp521 UTSW 18 13,979,330 (GRCm39) nonsense probably null
R3760:Zfp521 UTSW 18 13,977,686 (GRCm39) missense possibly damaging 0.93
R3851:Zfp521 UTSW 18 13,850,808 (GRCm39) splice site probably benign
R3950:Zfp521 UTSW 18 13,979,403 (GRCm39) missense probably damaging 0.99
R4398:Zfp521 UTSW 18 13,979,601 (GRCm39) missense probably benign 0.26
R4583:Zfp521 UTSW 18 13,977,387 (GRCm39) missense probably benign 0.19
R4688:Zfp521 UTSW 18 13,977,648 (GRCm39) nonsense probably null
R4688:Zfp521 UTSW 18 13,977,647 (GRCm39) missense probably damaging 1.00
R4698:Zfp521 UTSW 18 13,978,660 (GRCm39) missense probably damaging 0.96
R4738:Zfp521 UTSW 18 13,977,111 (GRCm39) missense possibly damaging 0.50
R5031:Zfp521 UTSW 18 13,977,330 (GRCm39) missense possibly damaging 0.68
R5137:Zfp521 UTSW 18 13,978,505 (GRCm39) missense probably damaging 1.00
R5257:Zfp521 UTSW 18 13,980,035 (GRCm39) missense probably damaging 1.00
R5420:Zfp521 UTSW 18 13,977,144 (GRCm39) missense probably damaging 1.00
R5917:Zfp521 UTSW 18 13,978,612 (GRCm39) missense probably damaging 0.98
R5995:Zfp521 UTSW 18 13,850,681 (GRCm39) missense probably damaging 1.00
R6088:Zfp521 UTSW 18 13,979,166 (GRCm39) missense possibly damaging 0.47
R6150:Zfp521 UTSW 18 13,977,135 (GRCm39) missense probably damaging 1.00
R6261:Zfp521 UTSW 18 13,977,684 (GRCm39) missense probably damaging 1.00
R7649:Zfp521 UTSW 18 13,977,413 (GRCm39) missense probably damaging 1.00
R7662:Zfp521 UTSW 18 13,977,173 (GRCm39) missense probably damaging 1.00
R7774:Zfp521 UTSW 18 13,978,838 (GRCm39) missense probably benign 0.41
R7935:Zfp521 UTSW 18 13,977,549 (GRCm39) missense probably damaging 1.00
R8225:Zfp521 UTSW 18 13,978,359 (GRCm39) missense probably benign 0.15
R8486:Zfp521 UTSW 18 13,979,829 (GRCm39) missense probably damaging 0.99
R8686:Zfp521 UTSW 18 13,978,701 (GRCm39) missense probably damaging 1.00
R8852:Zfp521 UTSW 18 14,072,150 (GRCm39) missense probably benign 0.11
R8883:Zfp521 UTSW 18 13,979,137 (GRCm39) missense probably damaging 1.00
R8897:Zfp521 UTSW 18 13,979,137 (GRCm39) missense probably damaging 1.00
R8898:Zfp521 UTSW 18 13,979,137 (GRCm39) missense probably damaging 1.00
R8899:Zfp521 UTSW 18 13,979,137 (GRCm39) missense probably damaging 1.00
R8910:Zfp521 UTSW 18 13,977,233 (GRCm39) missense probably benign 0.14
R8959:Zfp521 UTSW 18 13,979,137 (GRCm39) missense probably damaging 1.00
R8980:Zfp521 UTSW 18 13,979,137 (GRCm39) missense probably damaging 1.00
R8989:Zfp521 UTSW 18 13,979,137 (GRCm39) missense probably damaging 1.00
R8990:Zfp521 UTSW 18 13,979,137 (GRCm39) missense probably damaging 1.00
R8991:Zfp521 UTSW 18 13,979,137 (GRCm39) missense probably damaging 1.00
R9276:Zfp521 UTSW 18 13,977,698 (GRCm39) missense probably benign 0.03
R9453:Zfp521 UTSW 18 13,977,293 (GRCm39) missense probably damaging 1.00
R9478:Zfp521 UTSW 18 13,950,372 (GRCm39) missense probably damaging 1.00
R9524:Zfp521 UTSW 18 13,980,173 (GRCm39) missense possibly damaging 0.95
R9643:Zfp521 UTSW 18 13,978,922 (GRCm39) missense probably damaging 0.96
Z1176:Zfp521 UTSW 18 13,848,220 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTAATCACCTGTGCTTTGACTGG -3'
(R):5'- ACATCGAGGGAAGACCGTTCTGTG -3'

Sequencing Primer
(F):5'- TGCAGAAGTCTAAACTAGCCCTTG -3'
(R):5'- AAGACCGTTCTGTGGTCAG -3'
Posted On 2015-02-04