Incidental Mutation 'IGL03000:Zkscan17'
ID407266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zkscan17
Ensembl Gene ENSMUSG00000020472
Gene Namezinc finger with KRAB and SCAN domains 17
SynonymsNizp1, Zfp496
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03000
Quality Score
Status
Chromosome11
Chromosomal Location59485520-59526751 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59487160 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 399 (Y399C)
Ref Sequence ENSEMBL: ENSMUSP00000098709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013262] [ENSMUST00000101150]
Predicted Effect probably damaging
Transcript: ENSMUST00000013262
AA Change: Y555C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013262
Gene: ENSMUSG00000020472
AA Change: Y555C

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: Y399C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098709
Gene: ENSMUSG00000020472
AA Change: Y399C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119915
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,321,800 S445G probably benign Het
Abca5 C T 11: 110,317,814 V226I probably benign Het
Ankrd34c A T 9: 89,729,186 D367E probably benign Het
Bmp6 G T 13: 38,498,911 probably benign Het
Cacna2d2 T C 9: 107,524,198 probably null Het
Cblb T G 16: 52,204,542 D933E probably damaging Het
Ccny A G 18: 9,353,489 S95P probably benign Het
Cep192 A G 18: 67,852,044 I1658V probably damaging Het
Cntn6 A T 6: 104,804,386 T478S probably damaging Het
Cpne7 T C 8: 123,126,696 F247L probably benign Het
Csf1r A G 18: 61,109,652 E29G probably damaging Het
Dctn3 T A 4: 41,719,912 I65F possibly damaging Het
Dock1 A G 7: 134,789,240 E743G probably benign Het
Dus2 C A 8: 106,048,684 T281N probably damaging Het
Gbx1 G T 5: 24,504,926 T307K probably benign Het
Gtf2ird2 A T 5: 134,194,906 N93I probably benign Het
Heatr1 A G 13: 12,434,411 D1930G probably damaging Het
Hif3a T C 7: 17,048,639 I334V probably benign Het
Ints1 G T 5: 139,766,506 N756K probably benign Het
Kcnn2 T C 18: 45,560,568 F404L probably damaging Het
Kmt2c G A 5: 25,284,172 R4590W probably damaging Het
Limk1 A T 5: 134,670,501 V134E probably damaging Het
Mep1a A G 17: 43,474,990 V736A probably benign Het
Mex3a T A 3: 88,536,295 I226N probably damaging Het
Mgl2 A T 11: 70,134,200 K16* probably null Het
Mms22l G T 4: 24,581,161 V864L probably damaging Het
Mroh4 T A 15: 74,616,114 M320L probably benign Het
Mylk3 G A 8: 85,359,177 P243S probably damaging Het
Nbea A C 3: 56,004,627 D1246E possibly damaging Het
Ndnf A G 6: 65,703,315 T193A possibly damaging Het
Nfasc T C 1: 132,621,509 probably benign Het
Olfr421-ps1 A G 1: 174,151,560 T15A probably benign Het
Ptprq A T 10: 107,542,657 F2008I probably damaging Het
Rhag A G 17: 40,828,522 K116R probably benign Het
Rictor T A 15: 6,769,240 probably benign Het
Slc35f5 C A 1: 125,574,742 T277N probably damaging Het
Sorcs2 A G 5: 36,065,331 probably benign Het
Ssh2 T A 11: 77,421,206 probably benign Het
Togaram2 T C 17: 71,717,370 S830P probably benign Het
Trim30d T C 7: 104,473,269 T112A probably benign Het
Ttc34 T C 4: 154,865,431 V947A probably damaging Het
Ttn A G 2: 76,812,609 probably benign Het
Ubr5 A T 15: 38,024,852 V560D probably damaging Het
Ush2a A T 1: 188,549,856 E1856V possibly damaging Het
Zfp142 T C 1: 74,573,618 M457V probably benign Het
Zfp711 C T X: 112,624,858 Q137* probably null Het
Zswim6 T G 13: 107,727,114 noncoding transcript Het
Zswim6 T A 13: 107,727,115 noncoding transcript Het
Other mutations in Zkscan17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Zkscan17 APN 11 59487538 missense probably benign 0.09
IGL01755:Zkscan17 APN 11 59487415 missense probably damaging 1.00
IGL02739:Zkscan17 APN 11 59503526 missense probably damaging 1.00
IGL03088:Zkscan17 APN 11 59487766 missense probably damaging 1.00
R1880:Zkscan17 UTSW 11 59487629 nonsense probably null
R2005:Zkscan17 UTSW 11 59492216 missense probably damaging 0.99
R3001:Zkscan17 UTSW 11 59487251 missense probably damaging 1.00
R3002:Zkscan17 UTSW 11 59487251 missense probably damaging 1.00
R3898:Zkscan17 UTSW 11 59503437 missense probably damaging 1.00
R4402:Zkscan17 UTSW 11 59503022 start codon destroyed possibly damaging 0.89
R4754:Zkscan17 UTSW 11 59503025 nonsense probably null
R4959:Zkscan17 UTSW 11 59503712 missense probably damaging 0.99
R4978:Zkscan17 UTSW 11 59493227 missense possibly damaging 0.58
R5399:Zkscan17 UTSW 11 59502918 critical splice donor site probably null
R5762:Zkscan17 UTSW 11 59487571 missense possibly damaging 0.89
R5788:Zkscan17 UTSW 11 59487260 missense probably damaging 1.00
R6101:Zkscan17 UTSW 11 59503575 missense probably damaging 1.00
R6105:Zkscan17 UTSW 11 59503575 missense probably damaging 1.00
R6191:Zkscan17 UTSW 11 59502994 missense probably damaging 0.99
R8098:Zkscan17 UTSW 11 59503584 missense possibly damaging 0.88
Posted On2016-08-02