Incidental Mutation 'R4299:Zfp516'
ID 323521
Institutional Source Beutler Lab
Gene Symbol Zfp516
Ensembl Gene ENSMUSG00000058881
Gene Name zinc finger protein 516
Synonyms Zfp26l, C330029B10Rik
MMRRC Submission 041087-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # R4299 (G1)
Quality Score 171
Status Validated
Chromosome 18
Chromosomal Location 82928788-83023439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83005622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 842 (G842D)
Ref Sequence ENSEMBL: ENSMUSP00000126629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071233] [ENSMUST00000171238]
AlphaFold Q7TSH3
Predicted Effect possibly damaging
Transcript: ENSMUST00000071233
AA Change: G842D

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: G842D

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 possibly damaging
Transcript: ENSMUST00000171238
AA Change: G842D

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: G842D

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (76/78)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,258,154 (GRCm39) probably null Het
Akna A T 4: 63,316,269 (GRCm39) D31E possibly damaging Het
Apbb2 A T 5: 66,470,721 (GRCm39) H528Q probably damaging Het
Atp6v1g3 C A 1: 138,211,462 (GRCm39) Y47* probably null Het
AW551984 T C 9: 39,504,275 (GRCm39) T564A probably benign Het
C4b T C 17: 34,950,118 (GRCm39) D1384G possibly damaging Het
Cbfa2t2 G A 2: 154,365,848 (GRCm39) V353I probably damaging Het
Ccdc121 A G 5: 31,644,870 (GRCm39) R208G possibly damaging Het
Cdh20 T C 1: 109,988,731 (GRCm39) I211T probably damaging Het
Cep170b T C 12: 112,705,739 (GRCm39) S1166P probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crygs G A 16: 22,624,161 (GRCm39) Q149* probably null Het
Cyp2c70 T C 19: 40,172,372 (GRCm39) Q90R probably benign Het
Cyp3a41b T C 5: 145,510,487 (GRCm39) Y129C possibly damaging Het
Dnah10 A G 5: 124,896,989 (GRCm39) T3645A probably damaging Het
Dnai3 C T 3: 145,774,561 (GRCm39) D429N probably damaging Het
Dolk A T 2: 30,175,200 (GRCm39) W282R probably damaging Het
Dsg2 T A 18: 20,729,008 (GRCm39) probably null Het
Dysf A G 6: 84,045,059 (GRCm39) T297A possibly damaging Het
Flt1 G T 5: 147,620,717 (GRCm39) D142E probably benign Het
Frmd4a C A 2: 4,337,882 (GRCm39) N29K probably benign Het
Fxyd7 A T 7: 30,744,407 (GRCm39) M36K probably benign Het
Gabbr1 C T 17: 37,366,792 (GRCm39) R178* probably null Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Gprc5b G A 7: 118,583,437 (GRCm39) A144V possibly damaging Het
Il1rapl1 A T X: 86,344,313 (GRCm39) I194N probably damaging Het
Kics2 C A 10: 121,581,351 (GRCm39) H117Q probably benign Het
Klhl24 T C 16: 19,925,754 (GRCm39) M94T probably damaging Het
Kmt2e T A 5: 23,669,912 (GRCm39) I133N probably damaging Het
Macf1 A G 4: 123,293,199 (GRCm39) I5381T probably damaging Het
Madd A G 2: 91,000,148 (GRCm39) L197P probably damaging Het
Mapkapk3 G A 9: 107,134,648 (GRCm39) T296M probably damaging Het
Micall2 T C 5: 139,695,226 (GRCm39) probably benign Het
Myh9 T C 15: 77,654,164 (GRCm39) T1214A probably benign Het
Ncapd3 A G 9: 26,963,623 (GRCm39) N492S probably benign Het
Neurl4 A C 11: 69,799,887 (GRCm39) D1055A probably damaging Het
Nrbp1 T C 5: 31,407,943 (GRCm39) probably null Het
Or13a20 T C 7: 140,232,156 (GRCm39) V88A probably benign Het
Or1e21 A T 11: 73,344,827 (GRCm39) D70E probably damaging Het
Or52z1 T A 7: 103,437,202 (GRCm39) H94L probably benign Het
Or5j3 A T 2: 86,128,585 (GRCm39) I142F possibly damaging Het
Or6k8-ps1 T A 1: 173,979,878 (GRCm39) Y265* probably null Het
Or8b42 T G 9: 38,342,108 (GRCm39) Y177D probably damaging Het
Or8d1b T A 9: 38,887,055 (GRCm39) F28I probably damaging Het
Or8g19 T C 9: 39,056,295 (GRCm39) S300P probably benign Het
Patj C A 4: 98,565,558 (GRCm39) N1090K possibly damaging Het
Pde8a A G 7: 80,977,783 (GRCm39) D692G probably benign Het
Ppa2 G T 3: 133,073,603 (GRCm39) K220N probably damaging Het
Pramel32 T C 4: 88,546,419 (GRCm39) K137E probably damaging Het
Ptgr3 A T 18: 84,112,626 (GRCm39) I101F possibly damaging Het
Rad54b A G 4: 11,597,865 (GRCm39) H250R probably damaging Het
Reln A C 5: 22,125,485 (GRCm39) C2733G probably damaging Het
Rgs14 A G 13: 55,531,566 (GRCm39) T497A probably damaging Het
Rpl13-ps3 T A 14: 59,130,972 (GRCm39) noncoding transcript Het
Scn11a T G 9: 119,594,572 (GRCm39) I1274L probably damaging Het
Sco1 A T 11: 66,946,626 (GRCm39) H133L possibly damaging Het
Slc4a8 T C 15: 100,694,521 (GRCm39) probably null Het
Smc2 C T 4: 52,440,238 (GRCm39) probably benign Het
Spata18 T C 5: 73,824,245 (GRCm39) I156T probably benign Het
St3gal2 T C 8: 111,688,991 (GRCm39) M177T probably benign Het
Stt3a A G 9: 36,674,640 (GRCm39) F48L probably damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Szt2 A G 4: 118,222,603 (GRCm39) probably benign Het
Telo2 A T 17: 25,334,230 (GRCm39) S6T possibly damaging Het
Tnfrsf11b T C 15: 54,115,491 (GRCm39) M369V probably benign Het
Tnfrsf13b C G 11: 61,031,643 (GRCm39) probably null Het
Vmn1r234 A T 17: 21,449,283 (GRCm39) M66L probably benign Het
Vmn2r12 C A 5: 109,239,830 (GRCm39) M244I probably benign Het
Wdfy2 T A 14: 63,162,589 (GRCm39) L97* probably null Het
Xrcc5 T C 1: 72,433,879 (GRCm39) *733Q probably null Het
Zfp1004 G A 2: 150,032,653 (GRCm39) D17N probably damaging Het
Zwilch A G 9: 64,062,444 (GRCm39) probably null 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
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'- ATTTGGCACAGGGTCAGCTG -3'
(R):5'- ACACGGGTTATCACTGAGGG -3'

Sequencing Primer
(F):5'- TGCAGCTCTGTCGCACC -3'
(R):5'- GGTACTTCTGCTGAGGCTCC -3'
Posted On 2015-06-20