Incidental Mutation 'IGL02276:Zfp819'
ID 287339
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp819
Ensembl Gene ENSMUSG00000055102
Gene Name zinc finger protein 819
Synonyms 4933405K07Rik, 4930427I11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL02276
Quality Score
Status
Chromosome 7
Chromosomal Location 43607169-43618285 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43612004 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 32 (V32I)
Ref Sequence ENSEMBL: ENSMUSP00000116658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032661] [ENSMUST00000116324] [ENSMUST00000120935] [ENSMUST00000127765]
AlphaFold Q80V81
Predicted Effect possibly damaging
Transcript: ENSMUST00000032661
AA Change: V32I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032661
Gene: ENSMUSG00000055102
AA Change: V32I

DomainStartEndE-ValueType
KRAB 27 85 1.69e-21 SMART
ZnF_C2H2 300 327 5.4e1 SMART
ZnF_C2H2 356 378 3.74e-5 SMART
ZnF_C2H2 384 406 5.59e-4 SMART
ZnF_C2H2 412 434 1.36e-2 SMART
ZnF_C2H2 440 462 7.78e-3 SMART
ZnF_C2H2 468 490 5.9e-3 SMART
ZnF_C2H2 496 518 1.2e-3 SMART
ZnF_C2H2 524 546 4.79e-3 SMART
ZnF_C2H2 552 574 4.54e-4 SMART
ZnF_C2H2 580 602 3.11e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000116324
AA Change: V32I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112026
Gene: ENSMUSG00000055102
AA Change: V32I

DomainStartEndE-ValueType
KRAB 27 85 1.69e-21 SMART
ZnF_C2H2 300 327 5.4e1 SMART
ZnF_C2H2 356 378 3.74e-5 SMART
ZnF_C2H2 384 406 5.59e-4 SMART
ZnF_C2H2 412 434 1.36e-2 SMART
ZnF_C2H2 440 462 7.78e-3 SMART
ZnF_C2H2 468 490 5.9e-3 SMART
ZnF_C2H2 496 518 1.2e-3 SMART
ZnF_C2H2 524 546 4.79e-3 SMART
ZnF_C2H2 552 574 4.54e-4 SMART
ZnF_C2H2 580 602 3.11e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120935
SMART Domains Protein: ENSMUSP00000113867
Gene: ENSMUSG00000055102

DomainStartEndE-ValueType
ZnF_C2H2 224 251 5.4e1 SMART
ZnF_C2H2 280 302 3.74e-5 SMART
ZnF_C2H2 308 330 5.59e-4 SMART
ZnF_C2H2 336 358 1.36e-2 SMART
ZnF_C2H2 364 386 7.78e-3 SMART
ZnF_C2H2 392 414 5.9e-3 SMART
ZnF_C2H2 420 442 1.2e-3 SMART
ZnF_C2H2 448 470 4.79e-3 SMART
ZnF_C2H2 476 498 4.54e-4 SMART
ZnF_C2H2 504 526 3.11e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000127765
AA Change: V32I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116658
Gene: ENSMUSG00000055102
AA Change: V32I

DomainStartEndE-ValueType
KRAB 27 85 1.69e-21 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,559,128 V1140A probably damaging Het
B020004J07Rik T C 4: 101,838,109 S2G possibly damaging Het
Ccdc88b A G 19: 6,856,107 probably null Het
Cep135 A G 5: 76,634,246 N904S probably benign Het
Dnajc12 G A 10: 63,408,258 R109Q probably damaging Het
Dpp4 A G 2: 62,356,951 probably benign Het
Duox2 A T 2: 122,294,085 N380K probably benign Het
Dusp11 A T 6: 85,958,617 D91E probably damaging Het
Fkbp15 C A 4: 62,336,466 E266* probably null Het
Gm10337 A G 15: 102,503,734 V324A probably damaging Het
Gm4951 A T 18: 60,246,079 I229F probably damaging Het
Grik3 A T 4: 125,623,502 D46V possibly damaging Het
Hdac9 G A 12: 34,431,926 T181I probably damaging Het
Large1 T A 8: 72,818,093 M686L probably benign Het
Lca5 C A 9: 83,398,585 L387F possibly damaging Het
Mtmr9 A T 14: 63,530,276 W295R probably damaging Het
Olfr132 A G 17: 38,130,593 S200P probably damaging Het
Olfr194 A C 16: 59,120,015 D18E probably benign Het
Phf20l1 T A 15: 66,615,410 probably null Het
Plce1 A G 19: 38,524,757 S167G probably benign Het
Plekha6 C A 1: 133,293,861 D934E possibly damaging Het
Ptpn6 A C 6: 124,728,865 D105E probably null Het
Rtp1 T C 16: 23,431,313 S143P probably benign Het
Rttn A C 18: 89,048,454 Q1208P possibly damaging Het
Snx27 A T 3: 94,531,379 V183D probably damaging Het
Stim2 T C 5: 54,053,370 probably benign Het
Trak1 A T 9: 121,451,668 E271D probably damaging Het
Ttn A T 2: 76,943,882 probably benign Het
Vmn2r4 G A 3: 64,406,456 T279I possibly damaging Het
Vmn2r73 A T 7: 85,869,772 probably null Het
Other mutations in Zfp819
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Zfp819 APN 7 43611979 splice site probably benign
IGL01732:Zfp819 APN 7 43616422 missense probably benign 0.13
IGL02139:Zfp819 APN 7 43612110 critical splice donor site probably null
R0306:Zfp819 UTSW 7 43617197 missense possibly damaging 0.92
R0620:Zfp819 UTSW 7 43616444 missense probably benign 0.07
R1301:Zfp819 UTSW 7 43617100 missense possibly damaging 0.94
R1314:Zfp819 UTSW 7 43617056 missense probably benign 0.27
R1980:Zfp819 UTSW 7 43616461 missense probably benign
R4545:Zfp819 UTSW 7 43617785 missense probably damaging 0.98
R4993:Zfp819 UTSW 7 43617296 missense probably benign 0.37
R5053:Zfp819 UTSW 7 43617146 missense probably damaging 1.00
R6080:Zfp819 UTSW 7 43616696 missense probably benign 0.00
R7289:Zfp819 UTSW 7 43617082 missense probably damaging 1.00
R7387:Zfp819 UTSW 7 43612641 critical splice donor site probably null
R7608:Zfp819 UTSW 7 43616933 missense probably benign
R7813:Zfp819 UTSW 7 43616767 missense probably benign
R7863:Zfp819 UTSW 7 43617892 missense probably benign 0.17
R8026:Zfp819 UTSW 7 43617895 missense probably benign 0.44
R8080:Zfp819 UTSW 7 43617724 missense probably damaging 1.00
R9072:Zfp819 UTSW 7 43617146 missense probably damaging 1.00
R9073:Zfp819 UTSW 7 43617146 missense probably damaging 1.00
R9199:Zfp819 UTSW 7 43617779 missense probably benign 0.04
Z1176:Zfp819 UTSW 7 43617687 missense probably damaging 1.00
Posted On 2015-04-16