Incidental Mutation 'IGL00434:Zfp516'
ID3279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp516
Ensembl Gene ENSMUSG00000058881
Gene Namezinc finger protein 516
SynonymsC330029B10Rik, Zfp26l
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.495) question?
Stock #IGL00434
Quality Score
Status
Chromosome18
Chromosomal Location82910879-83005314 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 82957108 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 477 (M477K)
Ref Sequence ENSEMBL: ENSMUSP00000126629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071233] [ENSMUST00000171238]
Predicted Effect probably benign
Transcript: ENSMUST00000071233
AA Change: M477K

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: M477K

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: M477K

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: M477K

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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,987,299 F2609L probably damaging Het
Arid2 T C 15: 96,371,300 V1098A probably damaging Het
Ccdc126 C T 6: 49,334,305 probably benign Het
Cds2 T C 2: 132,293,351 L54P probably damaging Het
Cdsn A T 17: 35,554,843 S90C unknown Het
Clcn6 G T 4: 148,013,738 D581E probably damaging Het
Clec4f T A 6: 83,653,216 H120L possibly damaging Het
Col12a1 T C 9: 79,653,332 T1838A probably benign Het
Col22a1 T C 15: 72,006,675 D211G possibly damaging Het
Cpne8 T C 15: 90,497,058 probably benign Het
Dgkk T A X: 6,906,458 M462K probably benign Het
Dhx29 T A 13: 112,955,225 H834Q probably benign Het
Esyt1 A G 10: 128,517,635 Y578H possibly damaging Het
Fnip2 C A 3: 79,512,489 probably benign Het
Fut1 T G 7: 45,619,431 C270G probably damaging Het
Ganab T A 19: 8,907,343 V170D probably damaging Het
Gm15448 C A 7: 3,823,089 G302C probably damaging Het
Gys1 T A 7: 45,444,832 M364K possibly damaging Het
Ighv1-85 A C 12: 116,000,034 C115W probably damaging Het
Igkv4-74 T G 6: 69,185,060 T42P probably damaging Het
Jmjd4 A G 11: 59,450,495 Y84C probably damaging Het
Kif11 A C 19: 37,411,409 E781D possibly damaging Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Klf1 C T 8: 84,901,999 P9S possibly damaging Het
Lrrn3 T C 12: 41,452,192 probably benign Het
Ltbp4 C A 7: 27,328,805 R309L probably damaging Het
March10 T C 11: 105,402,188 E131G possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mgme1 T A 2: 144,279,136 probably benign Het
Nkiras2 G A 11: 100,624,982 G45D probably damaging Het
Orc2 A T 1: 58,493,716 D16E possibly damaging Het
Pcyox1l T C 18: 61,697,542 T420A probably benign Het
Pm20d1 A G 1: 131,814,000 probably benign Het
Ppp1r3c T C 19: 36,734,103 D89G probably damaging Het
Ppp2ca G A 11: 52,121,949 R302H probably benign Het
Riok3 T C 18: 12,148,847 V291A probably damaging Het
Rragd A G 4: 33,007,219 probably benign Het
Scai C A 2: 39,108,394 L174F probably damaging Het
Slc25a44 T C 3: 88,416,062 I227V probably benign Het
Slc35f1 T C 10: 53,062,452 L160P probably damaging Het
Slc38a1 A G 15: 96,585,623 Y275H possibly damaging Het
Slco6b1 A G 1: 96,988,650 noncoding transcript Het
Spag8 G T 4: 43,652,890 C190* probably null Het
Tbr1 T C 2: 61,805,281 F192L probably benign Het
Tmem29 A T X: 150,398,399 V132E possibly damaging Het
Tti1 C T 2: 158,008,966 E118K probably damaging Het
Tti1 T A 2: 158,008,965 E118V probably damaging Het
Vcan G T 13: 89,704,702 P713Q probably damaging Het
Wt1 G T 2: 105,144,141 probably null Het
Xylt1 T A 7: 117,650,685 I694N probably damaging Het
Other mutations in Zfp516
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Zfp516 APN 18 82993096 missense probably damaging 0.99
IGL01413:Zfp516 APN 18 82987670 nonsense probably null
IGL01684:Zfp516 APN 18 82957201 missense probably damaging 1.00
IGL01820:Zfp516 APN 18 82987361 missense probably benign 0.00
IGL02081:Zfp516 APN 18 82955733 missense probably benign 0.00
IGL02209:Zfp516 APN 18 82994497 missense probably benign
IGL02253:Zfp516 APN 18 82994497 missense probably benign
IGL03028:Zfp516 APN 18 82955913 missense possibly damaging 0.95
IGL03241:Zfp516 APN 18 82987520 missense probably benign 0.01
R0379:Zfp516 UTSW 18 82987670 nonsense probably null
R0426:Zfp516 UTSW 18 82955772 missense probably benign 0.04
R0466:Zfp516 UTSW 18 82957454 splice site probably null
R0715:Zfp516 UTSW 18 82987263 missense probably damaging 1.00
R1574:Zfp516 UTSW 18 82993175 missense possibly damaging 0.93
R1574:Zfp516 UTSW 18 82993175 missense possibly damaging 0.93
R2110:Zfp516 UTSW 18 82957411 missense probably damaging 0.99
R2112:Zfp516 UTSW 18 82957411 missense probably damaging 0.99
R2162:Zfp516 UTSW 18 82986938 missense possibly damaging 0.95
R2223:Zfp516 UTSW 18 82955770 missense possibly damaging 0.94
R4097:Zfp516 UTSW 18 82987256 missense possibly damaging 0.95
R4299:Zfp516 UTSW 18 82987497 missense possibly damaging 0.80
R4378:Zfp516 UTSW 18 82987180 missense probably benign 0.00
R4601:Zfp516 UTSW 18 82956039 missense probably benign 0.14
R4721:Zfp516 UTSW 18 82957111 missense possibly damaging 0.49
R4946:Zfp516 UTSW 18 82956094 missense probably benign 0.06
R5186:Zfp516 UTSW 18 82957093 missense probably benign
R5351:Zfp516 UTSW 18 82956751 missense probably benign 0.00
R5937:Zfp516 UTSW 18 82956833 missense probably damaging 0.99
R5998:Zfp516 UTSW 18 82956514 missense probably damaging 1.00
R6458:Zfp516 UTSW 18 82987350 missense probably benign 0.03
R6513:Zfp516 UTSW 18 82955710 missense probably damaging 1.00
R6626:Zfp516 UTSW 18 82988107 missense probably damaging 1.00
R6712:Zfp516 UTSW 18 82957308 missense probably damaging 1.00
R6877:Zfp516 UTSW 18 82955791 missense probably damaging 1.00
R6886:Zfp516 UTSW 18 82957000 missense probably benign 0.06
R7073:Zfp516 UTSW 18 82988200 critical splice donor site probably null
R7463:Zfp516 UTSW 18 82957108 missense probably benign 0.08
R7863:Zfp516 UTSW 18 83001328 missense probably benign 0.00
R7946:Zfp516 UTSW 18 83001328 missense probably benign 0.00
R8097:Zfp516 UTSW 18 82987170 nonsense probably null
X0019:Zfp516 UTSW 18 82987488 missense probably damaging 1.00
X0065:Zfp516 UTSW 18 82987169 missense probably damaging 1.00
Z1176:Zfp516 UTSW 18 82987533 missense probably benign 0.01
Z1177:Zfp516 UTSW 18 82956066 missense probably damaging 1.00
Z1177:Zfp516 UTSW 18 82956067 missense probably damaging 1.00
Posted On2012-04-20