Incidental Mutation 'IGL01343:Zfp516'
ID74915
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: 0.438) question?
Stock #IGL01343
Quality Score
Status
Chromosome18
Chromosomal Location82910879-83005314 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 82993096 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 1085 (T1085A)
Ref Sequence ENSEMBL: ENSMUSP00000126629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071233] [ENSMUST00000171238]
Predicted Effect probably damaging
Transcript: ENSMUST00000071233
AA Change: T1085A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: T1085A

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 damaging
Transcript: ENSMUST00000171238
AA Change: T1085A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: T1085A

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,150,702 Q1191R probably benign Het
Abcd2 A T 15: 91,149,213 probably benign Het
Adgrf1 T A 17: 43,313,195 F835L probably null Het
Akp3 G T 1: 87,127,136 probably benign Het
BC106179 G T 16: 23,224,287 probably benign Het
Bysl C A 17: 47,601,889 M325I probably benign Het
C330027C09Rik A G 16: 49,013,188 I551V probably damaging Het
Crnn A G 3: 93,148,326 R140G probably benign Het
Cts8 T C 13: 61,249,196 probably benign Het
Cxcr4 T C 1: 128,589,555 Y121C probably damaging Het
Ddr2 T C 1: 169,984,581 T691A probably benign Het
Dhx30 A T 9: 110,086,245 F782I probably benign Het
Efcab5 C T 11: 77,129,930 G655D probably damaging Het
Eif2ak4 G A 2: 118,422,089 V381I probably benign Het
Enpp3 A T 10: 24,805,922 Y295* probably null Het
Fbxo28 T C 1: 182,317,012 E329G probably damaging Het
Fmnl2 T A 2: 53,123,545 V972D probably damaging Het
Fmr1 A G X: 68,688,295 D22G probably damaging Het
Fsip2 A G 2: 82,999,819 T6886A possibly damaging Het
Gadl1 A G 9: 116,074,112 *503W probably null Het
Gpc6 A T 14: 117,186,812 K104I possibly damaging Het
Hecw2 T A 1: 53,826,976 T1509S probably damaging Het
Lonp1 A G 17: 56,615,586 L680P possibly damaging Het
Lrrc66 A T 5: 73,608,463 N412K probably damaging Het
Marco C T 1: 120,494,740 probably null Het
Mdga2 T C 12: 66,723,109 T206A probably damaging Het
Mogat2 C A 7: 99,232,568 A54S possibly damaging Het
Myh15 T A 16: 49,155,677 D1369E probably benign Het
Nckap1 A T 2: 80,519,842 S840T possibly damaging Het
Ncor1 C T 11: 62,325,486 probably null Het
Nfrkb C A 9: 31,388,954 L14I probably damaging Het
Notch1 C A 2: 26,472,905 A950S probably benign Het
Notch3 T C 17: 32,143,436 E1405G probably benign Het
Nsd2 C A 5: 33,843,578 D146E probably damaging Het
Oc90 T C 15: 65,889,591 T193A probably benign Het
Olfr1090 T A 2: 86,754,499 K80* probably null Het
Olfr1356 A T 10: 78,847,597 V106E probably damaging Het
Olfr150 C A 9: 39,737,715 A300D probably damaging Het
Orc2 A T 1: 58,492,855 probably null Het
Pacsin2 T C 15: 83,386,686 H254R probably damaging Het
Pif1 T A 9: 65,589,562 M319K probably damaging Het
Prag1 G A 8: 36,103,046 R261H possibly damaging Het
Ptprq G A 10: 107,638,839 T1335I probably damaging Het
Ryr3 A G 2: 112,660,054 Y3812H probably damaging Het
Sgo2b G A 8: 63,927,315 Q828* probably null Het
Skint6 A G 4: 113,283,626 V6A probably benign Het
Slc16a13 A G 11: 70,220,514 I55T probably damaging Het
Slc22a3 A T 17: 12,425,629 W490R probably damaging Het
Speer4b G T 5: 27,497,883 H208N probably benign Het
Tas2r124 T C 6: 132,755,415 L229S probably damaging Het
Tlr4 T C 4: 66,833,887 probably benign Het
Tmed1 G T 9: 21,510,073 T35K probably damaging Het
Tubgcp5 C A 7: 55,796,031 probably benign Het
Ugt2b34 A G 5: 86,904,388 S250P possibly damaging Het
Znfx1 T C 2: 167,037,363 I1698V probably benign Het
Zswim8 G T 14: 20,713,341 W385C probably damaging Het
Other mutations in Zfp516
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Zfp516 APN 18 82957108 missense probably benign 0.08
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
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 On2013-10-07