Incidental Mutation 'IGL01755:Zkscan17'
ID 153179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zkscan17
Ensembl Gene ENSMUSG00000020472
Gene Name zinc finger with KRAB and SCAN domains 17
Synonyms Zfp496, Nizp1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01755
Quality Score
Status
Chromosome 11
Chromosomal Location 59376346-59397466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59378241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 314 (F314S)
Ref Sequence ENSEMBL: ENSMUSP00000098709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013262] [ENSMUST00000101150]
AlphaFold Q5SXI5
Predicted Effect probably damaging
Transcript: ENSMUST00000013262
AA Change: F470S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013262
Gene: ENSMUSG00000020472
AA Change: F470S

DomainStartEndE-ValueType
SCAN 38 149 1.99e-54 SMART
KRAB 219 273 8.69e-1 SMART
ZnF_C2H2 405 425 4.34e0 SMART
ZnF_C2H2 433 455 2.36e-2 SMART
ZnF_C2H2 461 483 3.63e-3 SMART
low complexity region 493 508 N/A INTRINSIC
ZnF_C2H2 520 543 6.13e-1 SMART
ZnF_C2H2 551 573 1.56e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000101150
AA Change: F314S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098709
Gene: ENSMUSG00000020472
AA Change: F314S

DomainStartEndE-ValueType
KRAB 63 117 8.69e-1 SMART
ZnF_C2H2 249 269 4.34e0 SMART
ZnF_C2H2 277 299 2.36e-2 SMART
ZnF_C2H2 305 327 3.63e-3 SMART
low complexity region 337 352 N/A INTRINSIC
ZnF_C2H2 364 387 6.13e-1 SMART
ZnF_C2H2 395 417 1.56e-2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf6 A G 1: 170,616,180 (GRCm39) I520T possibly damaging Het
Azgp1 A T 5: 137,988,109 (GRCm39) K297M possibly damaging Het
Cyp2e1 A G 7: 140,354,469 (GRCm39) probably null Het
Dapk1 C A 13: 60,908,989 (GRCm39) L1201M probably damaging Het
Dapk1 T A 13: 60,908,990 (GRCm39) L1201Q possibly damaging Het
Insrr A T 3: 87,721,493 (GRCm39) D1133V probably damaging Het
Kcnc4 T C 3: 107,355,491 (GRCm39) N319S probably damaging Het
Kctd1 A G 18: 15,195,694 (GRCm39) C310R possibly damaging Het
Nefl A G 14: 68,323,526 (GRCm39) D384G probably damaging Het
Nfatc3 A G 8: 106,854,553 (GRCm39) N1029S probably benign Het
Nup107 T C 10: 117,610,398 (GRCm39) Y348C probably damaging Het
Or5b117 T C 19: 13,431,179 (GRCm39) K234R probably damaging Het
Or5w8 T A 2: 87,687,854 (GRCm39) C112S possibly damaging Het
Phf8-ps T A 17: 33,285,951 (GRCm39) N284Y probably damaging Het
Phldb2 T C 16: 45,645,945 (GRCm39) E212G probably damaging Het
Pirb A T 7: 3,720,169 (GRCm39) N401K probably benign Het
Plcg2 T C 8: 118,347,980 (GRCm39) F1183S possibly damaging Het
Plekhf2 A T 4: 10,991,308 (GRCm39) N11K probably damaging Het
Slc7a11 A G 3: 50,378,516 (GRCm39) Y241H probably benign Het
Sltm T G 9: 70,491,204 (GRCm39) probably null Het
Taf4b A G 18: 15,031,042 (GRCm39) T809A probably benign Het
Taf4b C A 18: 15,031,043 (GRCm39) T809N probably benign Het
Tesk1 T C 4: 43,445,820 (GRCm39) probably null Het
Tspan8 C T 10: 115,671,203 (GRCm39) T120M probably damaging Het
Ttn T G 2: 76,551,727 (GRCm39) D31275A probably damaging Het
Vcl C A 14: 21,046,038 (GRCm39) Q334K probably damaging Het
Zfp94 G A 7: 24,010,906 (GRCm39) probably benign Het
Other mutations in Zkscan17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Zkscan17 APN 11 59,378,364 (GRCm39) missense probably benign 0.09
IGL02739:Zkscan17 APN 11 59,394,352 (GRCm39) missense probably damaging 1.00
IGL03000:Zkscan17 APN 11 59,377,986 (GRCm39) missense probably damaging 1.00
IGL03088:Zkscan17 APN 11 59,378,592 (GRCm39) missense probably damaging 1.00
R1880:Zkscan17 UTSW 11 59,378,455 (GRCm39) nonsense probably null
R2005:Zkscan17 UTSW 11 59,383,042 (GRCm39) missense probably damaging 0.99
R3001:Zkscan17 UTSW 11 59,378,077 (GRCm39) missense probably damaging 1.00
R3002:Zkscan17 UTSW 11 59,378,077 (GRCm39) missense probably damaging 1.00
R3898:Zkscan17 UTSW 11 59,394,263 (GRCm39) missense probably damaging 1.00
R4402:Zkscan17 UTSW 11 59,393,848 (GRCm39) start codon destroyed possibly damaging 0.89
R4754:Zkscan17 UTSW 11 59,393,851 (GRCm39) nonsense probably null
R4959:Zkscan17 UTSW 11 59,394,538 (GRCm39) missense probably damaging 0.99
R4978:Zkscan17 UTSW 11 59,384,053 (GRCm39) missense possibly damaging 0.58
R5399:Zkscan17 UTSW 11 59,393,744 (GRCm39) critical splice donor site probably null
R5762:Zkscan17 UTSW 11 59,378,397 (GRCm39) missense possibly damaging 0.89
R5788:Zkscan17 UTSW 11 59,378,086 (GRCm39) missense probably damaging 1.00
R6101:Zkscan17 UTSW 11 59,394,401 (GRCm39) missense probably damaging 1.00
R6105:Zkscan17 UTSW 11 59,394,401 (GRCm39) missense probably damaging 1.00
R6191:Zkscan17 UTSW 11 59,393,820 (GRCm39) missense probably damaging 0.99
R8098:Zkscan17 UTSW 11 59,394,410 (GRCm39) missense possibly damaging 0.88
R8161:Zkscan17 UTSW 11 59,393,770 (GRCm39) missense probably benign 0.08
R8210:Zkscan17 UTSW 11 59,394,574 (GRCm39) missense probably damaging 1.00
R9489:Zkscan17 UTSW 11 59,378,037 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04