Incidental Mutation 'IGL01084:Zfp583'
ID51476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp583
Ensembl Gene ENSMUSG00000030443
Gene Namezinc finger protein 583
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL01084
Quality Score
Status
Chromosome7
Chromosomal Location6315660-6331285 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6317185 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 276 (F276S)
Ref Sequence ENSEMBL: ENSMUSP00000129551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062765] [ENSMUST00000108560] [ENSMUST00000165705]
Predicted Effect probably damaging
Transcript: ENSMUST00000062765
AA Change: F276S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053935
Gene: ENSMUSG00000030443
AA Change: F276S

DomainStartEndE-ValueType
KRAB 6 66 7.45e-32 SMART
ZnF_C2H2 211 233 2.09e-3 SMART
ZnF_C2H2 239 261 3.89e-3 SMART
ZnF_C2H2 267 289 2.95e-3 SMART
ZnF_C2H2 295 317 1.2e-3 SMART
ZnF_C2H2 323 345 7.26e-3 SMART
ZnF_C2H2 351 373 2.61e-4 SMART
ZnF_C2H2 379 401 2.75e-3 SMART
ZnF_C2H2 407 429 2.57e-3 SMART
ZnF_C2H2 435 457 2.09e-3 SMART
ZnF_C2H2 463 485 1.58e-3 SMART
ZnF_C2H2 491 513 3.44e-4 SMART
ZnF_C2H2 519 541 1.36e-2 SMART
low complexity region 545 561 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108560
AA Change: F276S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104200
Gene: ENSMUSG00000030443
AA Change: F276S

DomainStartEndE-ValueType
KRAB 6 66 7.45e-32 SMART
ZnF_C2H2 211 233 2.09e-3 SMART
ZnF_C2H2 239 261 3.89e-3 SMART
ZnF_C2H2 267 289 2.95e-3 SMART
ZnF_C2H2 295 317 1.2e-3 SMART
ZnF_C2H2 323 345 7.26e-3 SMART
ZnF_C2H2 351 373 2.61e-4 SMART
ZnF_C2H2 379 401 2.75e-3 SMART
ZnF_C2H2 407 429 2.57e-3 SMART
ZnF_C2H2 435 457 2.09e-3 SMART
ZnF_C2H2 463 485 1.58e-3 SMART
ZnF_C2H2 491 513 3.44e-4 SMART
ZnF_C2H2 519 541 1.36e-2 SMART
low complexity region 545 561 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123868
Predicted Effect probably damaging
Transcript: ENSMUST00000165705
AA Change: F276S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129551
Gene: ENSMUSG00000030443
AA Change: F276S

DomainStartEndE-ValueType
KRAB 6 66 7.45e-32 SMART
ZnF_C2H2 211 233 2.09e-3 SMART
ZnF_C2H2 239 261 3.89e-3 SMART
ZnF_C2H2 267 289 2.95e-3 SMART
ZnF_C2H2 295 317 1.2e-3 SMART
ZnF_C2H2 323 345 7.26e-3 SMART
ZnF_C2H2 351 373 2.61e-4 SMART
ZnF_C2H2 379 401 2.75e-3 SMART
ZnF_C2H2 407 429 2.57e-3 SMART
ZnF_C2H2 435 457 2.09e-3 SMART
ZnF_C2H2 463 485 1.58e-3 SMART
ZnF_C2H2 491 513 3.44e-4 SMART
ZnF_C2H2 519 541 1.36e-2 SMART
low complexity region 545 561 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930412O13Rik A G 2: 9,883,073 probably benign Het
Aagab C A 9: 63,639,619 Q284K probably damaging Het
Adgrd1 A T 5: 129,139,592 N341I probably benign Het
Arhgap40 T C 2: 158,543,218 F457S probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Catsper1 G A 19: 5,337,772 V360M probably damaging Het
Cdc42bpa T A 1: 180,142,274 probably benign Het
Cep250 C T 2: 155,998,393 H2424Y probably benign Het
Cln3 T C 7: 126,575,254 E304G probably damaging Het
Eml2 T A 7: 19,190,738 C177* probably null Het
Epha5 G A 5: 84,071,087 R917* probably null Het
Gabra2 A G 5: 71,006,233 F244L probably damaging Het
Gars C A 6: 55,055,827 D261E probably benign Het
Keg1 A G 19: 12,714,612 K98E probably damaging Het
Kif13a A G 13: 46,750,634 probably benign Het
Matn1 A G 4: 130,951,934 K300E probably benign Het
Mesp1 A G 7: 79,793,083 S149P probably benign Het
Mmp10 T C 9: 7,505,650 V305A possibly damaging Het
Muc5b T C 7: 141,843,449 probably benign Het
Myof T C 19: 37,936,436 T1181A probably damaging Het
Olfr1161 T C 2: 88,025,003 S94P probably benign Het
Olfr1504 G T 19: 13,887,502 T236N probably damaging Het
Olfr398 A T 11: 73,984,527 L27Q probably damaging Het
Osbpl11 T C 16: 33,226,851 probably benign Het
Prune2 T C 19: 17,118,209 V359A probably benign Het
Ptch1 T A 13: 63,543,637 E267D probably damaging Het
Rbl2 A G 8: 91,122,313 E1049G probably damaging Het
Ruvbl2 A T 7: 45,422,523 probably null Het
Sec23b A G 2: 144,564,589 I101M possibly damaging Het
Srms A C 2: 181,206,384 probably null Het
Svep1 T A 4: 58,111,419 T1067S possibly damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tmem127 T C 2: 127,257,086 V180A probably damaging Het
Trpm7 A G 2: 126,846,072 probably null Het
Trpv3 G A 11: 73,294,000 probably null Het
Tti1 C T 2: 157,982,459 V1025I probably damaging Het
Vmn2r80 A G 10: 79,194,599 Y753C probably damaging Het
Vps13d A G 4: 145,154,955 L1350S probably benign Het
Zfp287 G T 11: 62,713,890 Y730* probably null Het
Zfp638 T C 6: 83,944,798 Y636H probably benign Het
Other mutations in Zfp583
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01921:Zfp583 APN 7 6325570 missense possibly damaging 0.95
R1593:Zfp583 UTSW 7 6317009 missense probably benign 0.03
R2188:Zfp583 UTSW 7 6317611 missense probably benign
R4377:Zfp583 UTSW 7 6317681 missense possibly damaging 0.61
R5000:Zfp583 UTSW 7 6325474 missense probably damaging 1.00
R5031:Zfp583 UTSW 7 6317398 missense probably benign
R5723:Zfp583 UTSW 7 6323675 missense probably damaging 0.98
R6603:Zfp583 UTSW 7 6325476 missense probably damaging 1.00
R7325:Zfp583 UTSW 7 6316586 missense probably damaging 0.99
R7391:Zfp583 UTSW 7 6316499 missense probably damaging 1.00
R7673:Zfp583 UTSW 7 6317010 missense possibly damaging 0.91
R8035:Zfp583 UTSW 7 6316772 missense probably damaging 1.00
R8127:Zfp583 UTSW 7 6323822 splice site probably null
R8331:Zfp583 UTSW 7 6317555 missense probably benign
RF024:Zfp583 UTSW 7 6316982 missense probably damaging 0.99
Posted On2013-06-21