Incidental Mutation 'R7649:Zfp521'
ID 590721
Institutional Source Beutler Lab
Gene Symbol Zfp521
Ensembl Gene ENSMUSG00000024420
Gene Name zinc finger protein 521
Synonyms Evi3, B930086A16Rik
MMRRC Submission 045646-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # R7649 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 13820070-14105812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13977413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1000 (E1000G)
Ref Sequence ENSEMBL: ENSMUSP00000025288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025288]
AlphaFold Q6KAS7
Predicted Effect probably damaging
Transcript: ENSMUST00000025288
AA Change: E1000G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025288
Gene: ENSMUSG00000024420
AA Change: E1000G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (57/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b T C 5: 26,053,364 (GRCm39) V319A probably benign Het
Adam28 T A 14: 68,872,282 (GRCm39) Y320F probably benign Het
Adam4 T C 12: 81,467,151 (GRCm39) Y490C probably damaging Het
Ampd3 G T 7: 110,377,049 (GRCm39) L13F probably benign Het
Arhgap45 C A 10: 79,866,835 (GRCm39) Q1113K probably benign Het
Arid5b T C 10: 67,954,175 (GRCm39) T370A possibly damaging Het
Arl15 A G 13: 114,104,208 (GRCm39) D115G possibly damaging Het
AW146154 G A 7: 41,130,156 (GRCm39) T320I probably benign Het
Cdh17 C T 4: 11,814,698 (GRCm39) P751L probably damaging Het
Chchd4 C T 6: 91,444,754 (GRCm39) R11Q probably benign Het
Clta T G 4: 44,025,494 (GRCm39) I140R possibly damaging Het
Cnpy1 T C 5: 28,412,282 (GRCm39) T84A probably benign Het
Cpne5 T C 17: 29,445,172 (GRCm39) D44G probably damaging Het
Crkl T C 16: 17,270,366 (GRCm39) S9P unknown Het
Csmd3 T C 15: 47,532,539 (GRCm39) D1641G Het
Ctnnd2 A G 15: 31,027,630 (GRCm39) T1185A probably benign Het
Dlc1 A T 8: 37,049,894 (GRCm39) L607Q probably damaging Het
Dpy19l2 T C 9: 24,607,459 (GRCm39) M1V probably null Het
Dst T C 1: 34,206,778 (GRCm39) V982A probably benign Het
Fam135b T C 15: 71,334,429 (GRCm39) I922V probably benign Het
Fbxl13 T C 5: 21,819,664 (GRCm39) E245G probably benign Het
Fcgbp T C 7: 27,790,928 (GRCm39) S730P possibly damaging Het
Ggt1 T C 10: 75,421,290 (GRCm39) V468A possibly damaging Het
Gja5 A T 3: 96,958,957 (GRCm39) H338L probably benign Het
Herpud2 T C 9: 25,021,902 (GRCm39) E248G possibly damaging Het
Il17rd C A 14: 26,761,167 (GRCm39) A36E probably benign Het
Irf2bpl T C 12: 86,929,572 (GRCm39) Y367C possibly damaging Het
Lama1 T A 17: 68,044,549 (GRCm39) D149E Het
Lipf A T 19: 33,943,098 (GRCm39) E135D possibly damaging Het
Manea T A 4: 26,328,234 (GRCm39) D269V probably damaging Het
Megf6 A G 4: 154,349,542 (GRCm39) Y910C probably damaging Het
Mical3 G A 6: 120,911,909 (GRCm39) R1928W probably damaging Het
Or13c3 G A 4: 52,855,692 (GRCm39) Q274* probably null Het
Or5b108 T A 19: 13,168,136 (GRCm39) I35N possibly damaging Het
Plch1 G T 3: 63,605,590 (GRCm39) S1438* probably null Het
Por T C 5: 135,763,359 (GRCm39) F595L probably damaging Het
Prkcg G A 7: 3,378,480 (GRCm39) R634H probably benign Het
Prr14l C T 5: 32,985,589 (GRCm39) G1302D probably benign Het
Rcan3 A T 4: 135,139,799 (GRCm39) S135T probably benign Het
Rnf223 A G 4: 156,216,660 (GRCm39) M12V probably benign Het
Rps6kb2 A G 19: 4,207,020 (GRCm39) S483P unknown Het
Sacs T A 14: 61,440,677 (GRCm39) F908I possibly damaging Het
Slc4a9 A G 18: 36,661,430 (GRCm39) Q64R probably benign Het
Slco4c1 T A 1: 96,756,667 (GRCm39) I552F probably benign Het
Sppl2b C T 10: 80,703,253 (GRCm39) P505L probably benign Het
Sptbn4 A G 7: 27,061,002 (GRCm39) S2434P possibly damaging Het
Ssh1 A T 5: 114,088,612 (GRCm39) M395K probably benign Het
Stk10 A T 11: 32,527,764 (GRCm39) I171F Het
Tmx3 C T 18: 90,558,154 (GRCm39) A402V probably damaging Het
Tnfrsf13c T C 15: 82,108,341 (GRCm39) D58G possibly damaging Het
Tnk1 T C 11: 69,744,403 (GRCm39) probably null Het
Trav14n-3 A T 14: 53,607,951 (GRCm39) N94Y probably damaging Het
Trav5-4 A T 14: 53,941,902 (GRCm39) K92* probably null Het
Tsga10 C T 1: 37,874,229 (GRCm39) R190H unknown Het
Zfhx3 T C 8: 109,678,276 (GRCm39) F3109L probably benign Het
Zfhx4 A G 3: 5,307,170 (GRCm39) Y132C probably damaging 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
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
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'- TTTCTGAACGTGCTGGCCAC -3'
(R):5'- CAAGTGTAACGTTTGCTCGAG -3'

Sequencing Primer
(F):5'- GAAGGTCCCGTGGATTTT -3'
(R):5'- TCTTCTCCGAAAACGGGC -3'
Posted On 2019-10-24