Incidental Mutation 'IGL02741:Zkscan3'
ID305919
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zkscan3
Ensembl Gene ENSMUSG00000021327
Gene Namezinc finger with KRAB and SCAN domains 3
SynonymsZfp306, 2810435N07Rik, Zfp307, Skz1
Accession Numbers

Genbank: NM_001145778, NM_023685; MGI: 1919989

Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL02741
Quality Score
Status
Chromosome13
Chromosomal Location21387003-21402755 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 21393994 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 241 (M241K)
Ref Sequence ENSEMBL: ENSMUSP00000112135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070785] [ENSMUST00000116433] [ENSMUST00000116434] [ENSMUST00000117721] [ENSMUST00000223831] [ENSMUST00000224820]
Predicted Effect probably benign
Transcript: ENSMUST00000070785
AA Change: M241K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000068424
Gene: ENSMUSG00000021327
AA Change: M241K

DomainStartEndE-ValueType
SCAN 47 159 4.18e-71 SMART
KRAB 213 273 4.07e-6 SMART
ZnF_C2H2 313 335 4.17e-3 SMART
ZnF_C2H2 341 363 1.38e-3 SMART
ZnF_C2H2 369 391 9.88e-5 SMART
ZnF_C2H2 397 419 1.95e-3 SMART
ZnF_C2H2 425 447 3.95e-4 SMART
ZnF_C2H2 479 501 5.21e-4 SMART
ZnF_C2H2 507 529 1.2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116433
AA Change: M241K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000112134
Gene: ENSMUSG00000021327
AA Change: M241K

DomainStartEndE-ValueType
SCAN 47 159 4.18e-71 SMART
KRAB 213 273 1.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116434
AA Change: M241K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112135
Gene: ENSMUSG00000021327
AA Change: M241K

DomainStartEndE-ValueType
SCAN 47 159 4.18e-71 SMART
KRAB 213 273 4.07e-6 SMART
ZnF_C2H2 313 335 4.17e-3 SMART
ZnF_C2H2 341 363 1.38e-3 SMART
ZnF_C2H2 369 391 9.88e-5 SMART
ZnF_C2H2 397 419 1.95e-3 SMART
ZnF_C2H2 425 447 3.95e-4 SMART
ZnF_C2H2 479 501 5.21e-4 SMART
ZnF_C2H2 507 529 1.2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117721
AA Change: M241K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112862
Gene: ENSMUSG00000021327
AA Change: M241K

DomainStartEndE-ValueType
SCAN 47 159 4.18e-71 SMART
KRAB 213 256 3.96e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184464
Predicted Effect probably benign
Transcript: ENSMUST00000223831
AA Change: M74K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000224820
AA Change: M212K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik T C 2: 18,027,196 Y37C unknown Het
Arhgap20 T A 9: 51,848,645 C599S probably benign Het
Bcl6b C A 11: 70,229,116 R15L probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dchs1 C T 7: 105,757,323 D2262N probably damaging Het
Dsg4 A G 18: 20,471,496 M1007V probably benign Het
Fgd6 A G 10: 94,123,290 K1032R possibly damaging Het
Fras1 T A 5: 96,691,371 M1583K probably benign Het
Gjc3 A T 5: 137,957,464 C186* probably null Het
Gm14496 A G 2: 181,991,343 R40G probably benign Het
Ibtk T C 9: 85,726,612 R416G probably damaging Het
Kcnc4 A G 3: 107,447,978 F385L probably damaging Het
Mapk8ip2 T C 15: 89,457,497 S304P probably damaging Het
Mbd6 A G 10: 127,287,394 probably null Het
Mroh2b T C 15: 4,905,632 F183S probably benign Het
Nrg1 T A 8: 31,822,288 T334S probably damaging Het
Pigw C T 11: 84,878,366 V46I probably benign Het
Pkdrej T C 15: 85,817,430 E1435G probably benign Het
Pkhd1 T C 1: 20,220,029 probably benign Het
Prkdc A T 16: 15,752,726 probably benign Het
Ptprd A T 4: 76,133,284 I247N probably damaging Het
Rfx1 A G 8: 84,095,842 Q923R possibly damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rps6ka2 T A 17: 7,296,016 F608I probably benign Het
Slc13a1 A T 6: 24,150,708 probably null Het
Slc6a20b C T 9: 123,607,602 V249M probably damaging Het
Slc9c1 A G 16: 45,581,598 I783V possibly damaging Het
Swap70 G T 7: 110,274,649 M401I probably benign Het
Tmco4 A T 4: 139,029,877 I407F probably damaging Het
Trpm4 T A 7: 45,318,488 S340C possibly damaging Het
Tsc2 T C 17: 24,629,969 E79G probably damaging Het
Ubr1 A C 2: 120,941,091 S439A probably benign Het
Vmn1r73 T C 7: 11,756,783 V176A probably benign Het
Vmn2r17 G A 5: 109,420,211 D67N probably benign Het
Wasf1 C T 10: 40,930,709 T116M probably damaging Het
Other mutations in Zkscan3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01574:Zkscan3 APN 13 21394091 splice site probably benign
IGL02406:Zkscan3 APN 13 21388178 missense possibly damaging 0.71
IGL02725:Zkscan3 APN 13 21394893 missense possibly damaging 0.85
3-1:Zkscan3 UTSW 13 21387881 missense probably benign 0.32
R0040:Zkscan3 UTSW 13 21394920 splice site probably null
R0040:Zkscan3 UTSW 13 21394920 splice site probably null
R0133:Zkscan3 UTSW 13 21394774 missense possibly damaging 0.73
R0660:Zkscan3 UTSW 13 21388460 missense probably damaging 1.00
R0737:Zkscan3 UTSW 13 21388596 missense probably benign
R1250:Zkscan3 UTSW 13 21388524 missense probably benign 0.32
R1671:Zkscan3 UTSW 13 21396135 missense possibly damaging 0.93
R1926:Zkscan3 UTSW 13 21396446 missense possibly damaging 0.88
R2899:Zkscan3 UTSW 13 21393973 missense probably damaging 1.00
R4119:Zkscan3 UTSW 13 21393949 missense possibly damaging 0.65
R4120:Zkscan3 UTSW 13 21393949 missense possibly damaging 0.65
R4606:Zkscan3 UTSW 13 21393783 missense probably benign 0.00
R5459:Zkscan3 UTSW 13 21394812 missense probably damaging 0.96
R5549:Zkscan3 UTSW 13 21394063 missense probably damaging 1.00
R5631:Zkscan3 UTSW 13 21394533 missense probably damaging 1.00
R5988:Zkscan3 UTSW 13 21396291 missense probably damaging 1.00
R6495:Zkscan3 UTSW 13 21387905 missense probably damaging 0.97
R7286:Zkscan3 UTSW 13 21394813 missense probably benign
R7363:Zkscan3 UTSW 13 21387822 missense probably damaging 0.99
R7443:Zkscan3 UTSW 13 21388438 nonsense probably null
Z1088:Zkscan3 UTSW 13 21388565 missense possibly damaging 0.53
Posted On2015-04-16