Incidental Mutation 'R4398:Zfp521'
ID 325611
Institutional Source Beutler Lab
Gene Symbol Zfp521
Ensembl Gene ENSMUSG00000024420
Gene Name zinc finger protein 521
Synonyms Evi3, B930086A16Rik
MMRRC Submission 041130-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # R4398 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 13820070-14105812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13979601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 271 (E271K)
Ref Sequence ENSEMBL: ENSMUSP00000025288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025288]
AlphaFold Q6KAS7
Predicted Effect probably benign
Transcript: ENSMUST00000025288
AA Change: E271K

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025288
Gene: ENSMUSG00000024420
AA Change: E271K

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
Meta Mutation Damage Score 0.0840 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 96% (53/55)
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
Adamts20 C A 15: 94,231,576 (GRCm39) R871L possibly damaging Het
Adcy5 G A 16: 35,089,363 (GRCm39) C520Y probably damaging Het
AI661453 G A 17: 47,779,042 (GRCm39) probably benign Het
Bptf T C 11: 107,001,670 (GRCm39) K481E probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Ctc1 C T 11: 68,913,697 (GRCm39) P200S probably damaging Het
Dact1 T C 12: 71,363,959 (GRCm39) Y210H probably damaging Het
Dbn1 T C 13: 55,623,194 (GRCm39) T430A probably benign Het
Dmd A C X: 82,765,624 (GRCm39) T657P probably benign Het
Efnb2 C T 8: 8,670,832 (GRCm39) R256H possibly damaging Het
Eif4a1 T C 11: 69,560,070 (GRCm39) I116M possibly damaging Het
F730035P03Rik A T 7: 99,429,475 (GRCm39) noncoding transcript Het
Fbn1 C T 2: 125,239,701 (GRCm39) V329I probably benign Het
Gpr20 G A 15: 73,568,125 (GRCm39) T88I probably benign Het
Herc1 T G 9: 66,386,735 (GRCm39) V3783G probably benign Het
Khdc1a A G 1: 21,420,617 (GRCm39) D79G possibly damaging Het
Klk1b16 A T 7: 43,790,851 (GRCm39) I218F probably damaging Het
Malrd1 C T 2: 16,155,594 (GRCm39) T2001I unknown Het
Mia3 A G 1: 183,111,733 (GRCm39) S556P probably damaging Het
Myo3a T A 2: 22,467,854 (GRCm39) D369E probably benign Het
Nelfa T C 5: 34,058,623 (GRCm39) D279G possibly damaging Het
Ntrk3 A T 7: 77,900,517 (GRCm39) C607* probably null Het
Or13a20 T C 7: 140,232,741 (GRCm39) V283A possibly damaging Het
Pclo A T 5: 14,825,380 (GRCm39) Q1371L probably damaging Het
Pdzd2 A T 15: 12,376,061 (GRCm39) V1358E probably benign Het
Pgr T C 9: 8,903,750 (GRCm39) probably null Het
Prag1 A G 8: 36,570,809 (GRCm39) D464G probably damaging Het
Prickle4 A G 17: 48,001,456 (GRCm39) probably benign Het
Prim2 A G 1: 33,551,192 (GRCm39) Y309H probably damaging Het
Prkaa1 A G 15: 5,206,642 (GRCm39) Q464R possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rint1 T A 5: 23,999,445 (GRCm39) I78K possibly damaging Het
Rnf130 T A 11: 49,962,205 (GRCm39) F217Y probably benign Het
Smad7 T C 18: 75,527,234 (GRCm39) V360A probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stag1 A G 9: 100,838,659 (GRCm39) probably benign Het
Tlr12 T A 4: 128,509,988 (GRCm39) D754V probably benign Het
Tmf1 G A 6: 97,155,857 (GRCm39) P43L probably damaging Het
Togaram1 A G 12: 65,027,630 (GRCm39) N873S probably benign Het
Tsn C T 1: 118,238,799 (GRCm39) probably benign Het
Ubn1 A G 16: 4,882,289 (GRCm39) K250R probably damaging Het
Vmn1r25 A T 6: 57,955,812 (GRCm39) V159D probably damaging Het
Vmn2r89 T C 14: 51,689,551 (GRCm39) L18P probably damaging Het
Vps8 T G 16: 21,323,216 (GRCm39) N689K probably damaging Het
Ythdc1 T A 5: 86,963,513 (GRCm39) D30E possibly damaging Het
Ythdc1 G T 5: 86,983,679 (GRCm39) probably benign Het
Zfp407 G A 18: 84,580,856 (GRCm39) Q86* probably null 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
ANU05:Zfp521 UTSW 18 13,950,303 (GRCm39) missense probably damaging 1.00
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
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'- TGTAACCCACAGTGACCAGG -3'
(R):5'- GCTCCTTGCACGGACATATG -3'

Sequencing Primer
(F):5'- ACTGTCCATGTGGCTATACAG -3'
(R):5'- TGCACGGACATATGCAGGTTC -3'
Posted On 2015-07-06