Incidental Mutation 'IGL01921:Zfp583'
ID180089
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 #IGL01921
Quality Score
Status
Chromosome7
Chromosomal Location6315660-6331285 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 6325570 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 7 (T7A)
Ref Sequence ENSEMBL: ENSMUSP00000129551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062765] [ENSMUST00000108560] [ENSMUST00000127658] [ENSMUST00000165705]
Predicted Effect possibly damaging
Transcript: ENSMUST00000062765
AA Change: T7A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000053935
Gene: ENSMUSG00000030443
AA Change: T7A

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 possibly damaging
Transcript: ENSMUST00000108560
AA Change: T7A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104200
Gene: ENSMUSG00000030443
AA Change: T7A

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 possibly damaging
Transcript: ENSMUST00000127658
AA Change: T7A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118249
Gene: ENSMUSG00000030443
AA Change: T7A

DomainStartEndE-ValueType
KRAB 6 66 7.45e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135435
Predicted Effect possibly damaging
Transcript: ENSMUST00000165705
AA Change: T7A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129551
Gene: ENSMUSG00000030443
AA Change: T7A

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,512,483 T310A possibly damaging Het
Ccdc102a T C 8: 94,913,391 T92A probably damaging Het
Cd163l1 G T 7: 140,228,719 E848* probably null Het
Ciao1 C T 2: 127,242,835 V328I probably benign Het
Col12a1 T A 9: 79,650,017 Q1943L possibly damaging Het
Diaph1 T C 18: 37,856,208 D898G possibly damaging Het
Dio3 A T 12: 110,279,355 T42S possibly damaging Het
Dnah8 T A 17: 30,736,141 I2048N probably benign Het
Egr2 T A 10: 67,540,378 probably null Het
Epc2 T A 2: 49,532,197 Y368N probably damaging Het
Furin A G 7: 80,395,954 probably benign Het
Gga1 T C 15: 78,893,795 M620T possibly damaging Het
Gm21976 T A 13: 98,305,321 Y45* probably null Het
Gm5346 C A 8: 43,625,511 V559L probably damaging Het
Gpn1 T C 5: 31,499,268 V105A probably damaging Het
Hoxb8 A T 11: 96,284,355 N206I probably damaging Het
Kif15 T A 9: 122,979,504 L67Q probably damaging Het
Krt40 T A 11: 99,543,163 probably benign Het
Mat1a T C 14: 41,114,335 probably benign Het
Mkrn1 T C 6: 39,405,913 D99G possibly damaging Het
Plxnb2 T C 15: 89,164,271 Y645C possibly damaging Het
Ppp1r13b A G 12: 111,833,237 V702A probably benign Het
Ppp4r4 G T 12: 103,576,310 M1I probably null Het
Prss21 T A 17: 23,872,440 M217K possibly damaging Het
R3hcc1l A G 19: 42,563,781 S406G possibly damaging Het
Rfesd T C 13: 76,008,266 E7G probably benign Het
Ripk4 T C 16: 97,743,365 E694G possibly damaging Het
Rlf T C 4: 121,146,746 D1679G probably damaging Het
Ryr2 C T 13: 11,554,550 C4956Y possibly damaging Het
Uri1 T A 7: 37,981,647 K111* probably null Het
Usf1 A G 1: 171,416,856 E108G possibly damaging Het
Vmn1r71 C A 7: 10,748,272 R163L probably benign Het
Vmn2r86 T C 10: 130,455,741 T52A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Washc5 A T 15: 59,342,109 probably null Het
Zim1 T G 7: 6,682,185 probably benign Het
Other mutations in Zfp583
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Zfp583 APN 7 6317185 missense probably damaging 1.00
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 On2014-05-07