Incidental Mutation 'R6886:Zfp516'
ID 536977
Institutional Source Beutler Lab
Gene Symbol Zfp516
Ensembl Gene ENSMUSG00000058881
Gene Name zinc finger protein 516
Synonyms Zfp26l, C330029B10Rik
MMRRC Submission 044980-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # R6886 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 82928788-83023439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82975125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 441 (D441G)
Ref Sequence ENSEMBL: ENSMUSP00000126629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071233] [ENSMUST00000171238]
AlphaFold Q7TSH3
Predicted Effect probably benign
Transcript: ENSMUST00000071233
AA Change: D441G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: D441G

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 benign
Transcript: ENSMUST00000171238
AA Change: D441G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: D441G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b A T 8: 22,518,706 (GRCm39) M44K probably benign Het
Bad T C 19: 6,928,702 (GRCm39) probably benign Het
Bbs12 A G 3: 37,373,390 (GRCm39) D61G probably damaging Het
Bcr C T 10: 74,989,769 (GRCm39) R722C probably damaging Het
Carf C A 1: 60,175,413 (GRCm39) probably null Het
Ccdc181 A G 1: 164,107,665 (GRCm39) E116G probably damaging Het
Celsr1 A G 15: 85,915,855 (GRCm39) V706A probably benign Het
Col9a1 T A 1: 24,224,426 (GRCm39) S203T unknown Het
Ctsl T C 13: 64,512,961 (GRCm39) probably null Het
Exosc7 A T 9: 122,965,023 (GRCm39) E277D probably benign Het
Fam20b A T 1: 156,518,081 (GRCm39) W238R probably damaging Het
Fanci A T 7: 79,070,090 (GRCm39) H430L possibly damaging Het
Fstl4 A G 11: 53,077,277 (GRCm39) D678G probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gm11569 T A 11: 99,689,247 (GRCm39) probably benign Het
Igfn1 G A 1: 135,901,198 (GRCm39) R306W probably damaging Het
Il6 C T 5: 30,223,201 (GRCm39) probably benign Het
Khdc1c T C 1: 21,439,749 (GRCm39) L100P possibly damaging Het
Kif18a G A 2: 109,127,008 (GRCm39) R314H probably damaging Het
Kif26b A C 1: 178,701,703 (GRCm39) K694T probably damaging Het
Kndc1 A G 7: 139,493,485 (GRCm39) T484A probably benign Het
Lonrf1 T C 8: 36,696,191 (GRCm39) probably null Het
Man1a2 C T 3: 100,563,387 (GRCm39) G169D probably benign Het
Med6 G T 12: 81,638,159 (GRCm39) D17E probably damaging Het
Neb T C 2: 52,110,236 (GRCm39) K204R probably damaging Het
Nhlrc1 T A 13: 47,167,252 (GRCm39) N335I possibly damaging Het
Nlrp12 T C 7: 3,289,313 (GRCm39) M400V probably benign Het
Or7e173 G T 9: 19,938,428 (GRCm39) H269N probably benign Het
Or8k22 A T 2: 86,163,408 (GRCm39) C97* probably null Het
Pkhd1 C T 1: 20,417,504 (GRCm39) S2549N probably benign Het
Pramel26 A G 4: 143,539,332 (GRCm39) F54L probably benign Het
Rab4b A C 7: 26,872,381 (GRCm39) L145R probably damaging Het
Rad50 T C 11: 53,577,011 (GRCm39) I526V probably benign Het
Rel T C 11: 23,694,304 (GRCm39) H309R probably benign Het
Rnf2 G T 1: 151,349,017 (GRCm39) N34K possibly damaging Het
Serpina3m G T 12: 104,355,386 (GRCm39) V18F possibly damaging Het
Serpinb9c T C 13: 33,334,310 (GRCm39) K244R probably benign Het
Setbp1 T A 18: 78,900,715 (GRCm39) Y984F probably damaging Het
Slc12a5 T A 2: 164,824,825 (GRCm39) M410K probably benign Het
Smarca4 C T 9: 21,570,127 (GRCm39) A710V probably damaging Het
Snx19 C A 9: 30,340,231 (GRCm39) D456E probably damaging Het
Ssrp1 T A 2: 84,870,280 (GRCm39) D101E probably benign Het
Tax1bp1 A T 6: 52,710,208 (GRCm39) E162D probably benign Het
Tenm4 T A 7: 96,446,599 (GRCm39) M823K possibly damaging Het
Tesk1 A G 4: 43,443,592 (GRCm39) D53G possibly damaging Het
Tnrc6a T A 7: 122,786,668 (GRCm39) S1577T probably benign Het
Tpr A G 1: 150,299,716 (GRCm39) I1270V probably benign Het
Trp53bp2 T C 1: 182,256,608 (GRCm39) probably null Het
Ube4a A T 9: 44,860,141 (GRCm39) I307N probably damaging Het
Unc13b A G 4: 43,170,156 (GRCm39) probably benign Het
Vmn2r3 T C 3: 64,166,927 (GRCm39) K735E probably damaging Het
Vmn2r54 A G 7: 12,366,080 (GRCm39) F285L probably benign Het
Vmn2r81 T G 10: 79,103,988 (GRCm39) S204A possibly damaging Het
Washc1 A G 17: 66,426,061 (GRCm39) D453G probably damaging Het
Zfp329 T A 7: 12,544,025 (GRCm39) I500L probably benign Het
Zfp644 T C 5: 106,785,777 (GRCm39) T257A 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
R0466:Zfp516 UTSW 18 82,975,579 (GRCm39) splice site probably null
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
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'- GTGCCTGAATCTGACACCATATG -3'
(R):5'- GAAGCACTCAGAGGACTTGC -3'

Sequencing Primer
(F):5'- CATATGTGGCTGGTGATGTGTCC -3'
(R):5'- ACTCAGAGGACTTGCCCTGG -3'
Posted On 2018-10-18