Incidental Mutation 'IGL03028:Zfp516'
ID 408287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp516
Ensembl Gene ENSMUSG00000058881
Gene Name zinc finger protein 516
Synonyms Zfp26l, C330029B10Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # IGL03028
Quality Score
Status
Chromosome 18
Chromosomal Location 82928788-83023439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 82974038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 79 (I79L)
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: I79L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: I79L

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: I79L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: I79L

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
Acat1 A C 9: 53,506,062 (GRCm39) V86G probably benign Het
Adgra3 A T 5: 50,174,194 (GRCm39) W115R probably benign Het
Ahr G A 12: 35,554,709 (GRCm39) A470V probably benign Het
Aoah A T 13: 21,000,752 (GRCm39) Q62L possibly damaging Het
Arhgef12 A T 9: 42,937,524 (GRCm39) D100E possibly damaging Het
Asic1 A G 15: 99,570,038 (GRCm39) N120D probably benign Het
Atp2b2 A G 6: 113,736,103 (GRCm39) L988P probably damaging Het
Atxn2 T A 5: 121,948,972 (GRCm39) H789Q probably damaging Het
Clk1 G T 1: 58,460,261 (GRCm39) S123* probably null Het
Col10a1 C T 10: 34,271,012 (GRCm39) A328V probably benign Het
Col26a1 G T 5: 136,771,972 (GRCm39) D415E possibly damaging Het
Ctla2a A G 13: 61,083,273 (GRCm39) probably benign Het
Cwf19l2 A G 9: 3,430,622 (GRCm39) E318G probably benign Het
Dnajc16 C T 4: 141,495,043 (GRCm39) W523* probably null Het
Ehhadh T C 16: 21,581,144 (GRCm39) E616G probably damaging Het
F5 A T 1: 164,020,569 (GRCm39) K1015* probably null Het
Fam78a A G 2: 31,972,894 (GRCm39) W9R possibly damaging Het
Frs2 A T 10: 116,909,838 (GRCm39) M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 (GRCm38) M200L probably benign Het
Gm44511 T C 6: 128,757,358 (GRCm39) S179G probably damaging Het
Gpr25 G A 1: 136,188,550 (GRCm39) S21L probably benign Het
Hsdl2 A G 4: 59,594,471 (GRCm39) D34G probably damaging Het
Kcnt1 A G 2: 25,799,215 (GRCm39) probably null Het
Kl A G 5: 150,915,015 (GRCm39) Y914C probably damaging Het
Map3k3 T G 11: 106,001,577 (GRCm39) V45G probably damaging Het
Mppe1 A C 18: 67,360,755 (GRCm39) C261W probably damaging Het
Nin T C 12: 70,082,044 (GRCm39) T1640A probably benign Het
Or51a8 T A 7: 102,550,036 (GRCm39) I154N possibly damaging Het
Or51ac3 A G 7: 103,213,796 (GRCm39) probably null Het
Or5c1 C T 2: 37,221,968 (GRCm39) L70F probably damaging Het
Or5p59 T A 7: 107,703,380 (GRCm39) M288K probably damaging Het
Or7g26 A T 9: 19,230,664 (GRCm39) Y284F probably damaging Het
Oxr1 A G 15: 41,680,559 (GRCm39) N166D probably damaging Het
Pank4 T A 4: 155,054,442 (GRCm39) probably benign Het
Pgd A G 4: 149,246,084 (GRCm39) probably null Het
Pitrm1 C T 13: 6,624,429 (GRCm39) H831Y probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Rad51 A C 2: 118,946,795 (GRCm39) M1L possibly damaging Het
Recql5 G T 11: 115,785,257 (GRCm39) S746R possibly damaging Het
Rhbdl3 C T 11: 80,214,287 (GRCm39) Q133* probably null Het
Rpp40 A T 13: 36,088,494 (GRCm39) L59Q probably damaging Het
Rtca C A 3: 116,286,741 (GRCm39) probably benign Het
Rtkn C T 6: 83,124,853 (GRCm39) Q108* probably null Het
Shoc1 A C 4: 59,094,274 (GRCm39) I150S possibly damaging Het
Sirt6 C T 10: 81,463,375 (GRCm39) probably benign Het
Slc9a4 G A 1: 40,649,537 (GRCm39) V517M probably benign Het
Smarca2 G T 19: 26,655,712 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,735 (GRCm39) D111E probably benign Het
Tgfb1 T C 7: 25,403,621 (GRCm39) I311T probably damaging Het
Tgfb2 C T 1: 186,362,806 (GRCm39) probably null Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tnfsf4 T C 1: 161,223,213 (GRCm39) F21L possibly damaging Het
Ubr5 T C 15: 38,047,837 (GRCm39) T47A probably benign Het
Unc79 T C 12: 103,139,785 (GRCm39) V2515A possibly damaging Het
Utp6 T C 11: 79,844,450 (GRCm39) K192E probably damaging Het
Vmn2r102 T C 17: 19,914,328 (GRCm39) F631S 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
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
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
Posted On 2016-08-02