Incidental Mutation 'R0466:Zfp516'
ID 41668
Institutional Source Beutler Lab
Gene Symbol Zfp516
Ensembl Gene ENSMUSG00000058881
Gene Name zinc finger protein 516
Synonyms Zfp26l, C330029B10Rik
MMRRC Submission 038666-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # R0466 (G1)
Quality Score 184
Status Validated
Chromosome 18
Chromosomal Location 82928788-83023439 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 82975579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071233] [ENSMUST00000171238]
AlphaFold Q7TSH3
Predicted Effect probably null
Transcript: ENSMUST00000071233
SMART Domains Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
ZnF_C2H2 34 56 1.03e-2 SMART
ZnF_C2H2 62 84 3.95e-4 SMART
ZnF_C2H2 162 185 8.09e-1 SMART
ZnF_C2H2 188 211 1.76e-1 SMART
ZnF_C2H2 236 258 3.16e-3 SMART
ZnF_C2H2 264 286 3.34e-2 SMART
ZnF_C2H2 323 345 2.63e0 SMART
ZnF_C2H2 504 526 5.72e-1 SMART
low complexity region 527 544 N/A INTRINSIC
ZnF_C2H2 753 776 2.97e1 SMART
low complexity region 834 846 N/A INTRINSIC
ZnF_C2H2 1092 1114 1.12e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000171238
SMART Domains Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
ZnF_C2H2 34 56 1.03e-2 SMART
ZnF_C2H2 62 84 3.95e-4 SMART
ZnF_C2H2 162 185 8.09e-1 SMART
ZnF_C2H2 188 211 1.76e-1 SMART
ZnF_C2H2 236 258 3.16e-3 SMART
ZnF_C2H2 264 286 3.34e-2 SMART
ZnF_C2H2 323 345 2.63e0 SMART
ZnF_C2H2 504 526 5.72e-1 SMART
low complexity region 527 544 N/A INTRINSIC
ZnF_C2H2 753 776 2.97e1 SMART
low complexity region 834 846 N/A INTRINSIC
ZnF_C2H2 1092 1114 1.12e-3 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 97% (63/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,887,321 (GRCm39) Y373C probably benign Het
Abca12 T G 1: 71,341,822 (GRCm39) Q1046H probably damaging Het
Adgrv1 A G 13: 81,714,415 (GRCm39) F956S probably benign Het
Alk A G 17: 72,212,152 (GRCm39) V797A possibly damaging Het
Ascl2 A G 7: 142,522,217 (GRCm39) L77P probably benign Het
Aspm A T 1: 139,405,639 (GRCm39) I1509F probably damaging Het
AY358078 A T 14: 52,043,089 (GRCm39) Y259F unknown Het
Cbs G A 17: 31,835,126 (GRCm39) A450V probably benign Het
Cdh11 T A 8: 103,396,690 (GRCm39) Q213L possibly damaging Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cfap126 T C 1: 170,953,769 (GRCm39) I113T probably damaging Het
Clk4 A G 11: 51,158,155 (GRCm39) D53G possibly damaging Het
Dab1 T C 4: 104,577,747 (GRCm39) L272P probably benign Het
Dmtf1 A T 5: 9,182,454 (GRCm39) probably null Het
Dph5 A C 3: 115,722,359 (GRCm39) D279A probably benign Het
Fbxw19 T A 9: 109,307,717 (GRCm39) T461S probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gcg T C 2: 62,307,282 (GRCm39) D93G probably damaging Het
Gmps A G 3: 63,901,365 (GRCm39) T395A probably damaging Het
H2-Ob A G 17: 34,461,633 (GRCm39) D124G probably damaging Het
Itga8 G T 2: 12,237,697 (GRCm39) A341E probably damaging Het
Itih3 A G 14: 30,634,831 (GRCm39) probably null Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kif2c C T 4: 117,029,489 (GRCm39) R215Q possibly damaging Het
Letm1 A C 5: 33,919,074 (GRCm39) probably benign Het
Lypd8l T C 11: 58,503,331 (GRCm39) probably benign Het
Mmp3 A G 9: 7,450,165 (GRCm39) D299G probably damaging Het
Myh8 G T 11: 67,189,405 (GRCm39) A1194S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Nfib A C 4: 82,416,775 (GRCm39) Y87D probably damaging Het
Nlrp4a T C 7: 26,162,045 (GRCm39) probably benign Het
Nsmce1 A T 7: 125,071,408 (GRCm39) probably benign Het
Odad2 T A 18: 7,286,758 (GRCm39) I158F probably benign Het
Or7g12 T G 9: 18,899,551 (GRCm39) V89G probably benign Het
Or7g27 A T 9: 19,250,475 (GRCm39) T240S probably damaging Het
Patj C A 4: 98,576,393 (GRCm39) Q1193K probably damaging Het
Pcdhb5 G A 18: 37,455,596 (GRCm39) V659M probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pmis2 T C 7: 30,370,817 (GRCm39) I46V probably benign Het
Ppp2r5e A G 12: 75,509,216 (GRCm39) probably benign Het
Prom2 A G 2: 127,370,709 (GRCm39) F825S probably damaging Het
Rab11fip2 G A 19: 59,894,675 (GRCm39) A524V possibly damaging Het
Rb1cc1 A C 1: 6,333,491 (GRCm39) probably null Het
Rwdd3 G C 3: 120,952,668 (GRCm39) Q180E possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Sgcg A T 14: 61,459,135 (GRCm39) C265S probably damaging Het
Slc16a3 T C 11: 120,848,878 (GRCm39) S445P possibly damaging Het
Slc22a3 G A 17: 12,677,380 (GRCm39) Q263* probably null Het
Sorcs3 A G 19: 48,736,758 (GRCm39) T694A probably benign Het
Tbc1d15 T C 10: 115,055,077 (GRCm39) K322E probably damaging Het
Tecta G T 9: 42,284,369 (GRCm39) F905L probably benign Het
Tmeff1 A G 4: 48,636,853 (GRCm39) I184V possibly damaging Het
Ttf1 A G 2: 28,955,419 (GRCm39) H261R possibly damaging Het
Ttll6 T A 11: 96,036,417 (GRCm39) L349M probably damaging Het
Ubac2 G A 14: 122,211,031 (GRCm39) V134M probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn2r25 T G 6: 123,829,008 (GRCm39) I89L probably benign Het
Vmn2r6 A C 3: 64,463,723 (GRCm39) F370L probably damaging Het
Vps13b T A 15: 35,445,748 (GRCm39) Y412* probably null Het
Zfp142 A G 1: 74,624,570 (GRCm39) S85P possibly damaging Het
Other mutations in Zfp516
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Zfp516 APN 18 82,975,233 (GRCm39) missense probably benign 0.08
IGL01343:Zfp516 APN 18 83,011,221 (GRCm39) missense probably damaging 0.99
IGL01413:Zfp516 APN 18 83,005,795 (GRCm39) nonsense probably null
IGL01684:Zfp516 APN 18 82,975,326 (GRCm39) missense probably damaging 1.00
IGL01820:Zfp516 APN 18 83,005,486 (GRCm39) missense probably benign 0.00
IGL02081:Zfp516 APN 18 82,973,858 (GRCm39) missense probably benign 0.00
IGL02209:Zfp516 APN 18 83,012,622 (GRCm39) missense probably benign
IGL02253:Zfp516 APN 18 83,012,622 (GRCm39) missense probably benign
IGL03028:Zfp516 APN 18 82,974,038 (GRCm39) missense possibly damaging 0.95
IGL03241:Zfp516 APN 18 83,005,645 (GRCm39) missense probably benign 0.01
R0379:Zfp516 UTSW 18 83,005,795 (GRCm39) nonsense probably null
R0426:Zfp516 UTSW 18 82,973,897 (GRCm39) missense probably benign 0.04
R0715:Zfp516 UTSW 18 83,005,388 (GRCm39) missense probably damaging 1.00
R1574:Zfp516 UTSW 18 83,011,300 (GRCm39) missense possibly damaging 0.93
R1574:Zfp516 UTSW 18 83,011,300 (GRCm39) missense possibly damaging 0.93
R2110:Zfp516 UTSW 18 82,975,536 (GRCm39) missense probably damaging 0.99
R2112:Zfp516 UTSW 18 82,975,536 (GRCm39) missense probably damaging 0.99
R2162:Zfp516 UTSW 18 83,005,063 (GRCm39) missense possibly damaging 0.95
R2223:Zfp516 UTSW 18 82,973,895 (GRCm39) missense possibly damaging 0.94
R4097:Zfp516 UTSW 18 83,005,381 (GRCm39) missense possibly damaging 0.95
R4299:Zfp516 UTSW 18 83,005,622 (GRCm39) missense possibly damaging 0.80
R4378:Zfp516 UTSW 18 83,005,305 (GRCm39) missense probably benign 0.00
R4601:Zfp516 UTSW 18 82,974,164 (GRCm39) missense probably benign 0.14
R4721:Zfp516 UTSW 18 82,975,236 (GRCm39) missense possibly damaging 0.49
R4946:Zfp516 UTSW 18 82,974,219 (GRCm39) missense probably benign 0.06
R5186:Zfp516 UTSW 18 82,975,218 (GRCm39) missense probably benign
R5351:Zfp516 UTSW 18 82,974,876 (GRCm39) missense probably benign 0.00
R5937:Zfp516 UTSW 18 82,974,958 (GRCm39) missense probably damaging 0.99
R5998:Zfp516 UTSW 18 82,974,639 (GRCm39) missense probably damaging 1.00
R6458:Zfp516 UTSW 18 83,005,475 (GRCm39) missense probably benign 0.03
R6513:Zfp516 UTSW 18 82,973,835 (GRCm39) missense probably damaging 1.00
R6626:Zfp516 UTSW 18 83,006,232 (GRCm39) missense probably damaging 1.00
R6712:Zfp516 UTSW 18 82,975,433 (GRCm39) missense probably damaging 1.00
R6877:Zfp516 UTSW 18 82,973,916 (GRCm39) missense probably damaging 1.00
R6886:Zfp516 UTSW 18 82,975,125 (GRCm39) missense probably benign 0.06
R7073:Zfp516 UTSW 18 83,006,325 (GRCm39) critical splice donor site probably null
R7463:Zfp516 UTSW 18 82,975,233 (GRCm39) missense probably benign 0.08
R7863:Zfp516 UTSW 18 83,019,453 (GRCm39) missense probably benign 0.00
R8097:Zfp516 UTSW 18 83,005,295 (GRCm39) nonsense probably null
R8244:Zfp516 UTSW 18 82,974,458 (GRCm39) missense probably damaging 1.00
R8245:Zfp516 UTSW 18 82,974,458 (GRCm39) missense probably damaging 1.00
R8362:Zfp516 UTSW 18 83,005,019 (GRCm39) missense probably benign 0.01
R8410:Zfp516 UTSW 18 82,974,458 (GRCm39) missense probably damaging 1.00
R8780:Zfp516 UTSW 18 83,006,080 (GRCm39) missense probably benign
R8791:Zfp516 UTSW 18 82,975,460 (GRCm39) missense probably damaging 1.00
R9066:Zfp516 UTSW 18 82,973,964 (GRCm39) missense probably damaging 1.00
R9556:Zfp516 UTSW 18 82,974,965 (GRCm39) missense probably benign 0.00
X0019:Zfp516 UTSW 18 83,005,613 (GRCm39) missense probably damaging 1.00
X0065:Zfp516 UTSW 18 83,005,294 (GRCm39) missense probably damaging 1.00
Z1176:Zfp516 UTSW 18 83,005,658 (GRCm39) missense probably benign 0.01
Z1177:Zfp516 UTSW 18 82,974,192 (GRCm39) missense probably damaging 1.00
Z1177:Zfp516 UTSW 18 82,974,191 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGTCCTCTGAGTGCTTCGAGTG -3'
(R):5'- TGACAGCATCAGTCAGACCAGCAG -3'

Sequencing Primer
(F):5'- ACCAGATGGTGCTCCACTC -3'
(R):5'- CCAGAAGGTGCAGGATACCC -3'
Posted On 2013-05-23