Incidental Mutation 'IGL02739:Zkscan17'
ID305795
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 #IGL02739
Quality Score
Status
Chromosome11
Chromosomal Location59485520-59526751 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 59503526 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 83 (E83A)
Ref Sequence ENSEMBL: ENSMUSP00000013262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013262] [ENSMUST00000101150]
Predicted Effect probably damaging
Transcript: ENSMUST00000013262
AA Change: E83A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013262
Gene: ENSMUSG00000020472
AA Change: E83A

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 benign
Transcript: ENSMUST00000101150
SMART Domains Protein: ENSMUSP00000098709
Gene: ENSMUSG00000020472

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: ENSMUST00000123388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130570
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134522
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145533
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 76,878,517 C887S possibly damaging Het
Adamdec1 C A 14: 68,570,156 E352* probably null Het
Bglap2 A T 3: 88,378,012 probably null Het
Bsn A T 9: 108,112,546 H2002Q probably benign Het
Chtop T A 3: 90,502,250 Q165L possibly damaging Het
Clcn1 A T 6: 42,286,780 probably null Het
Ctsr T C 13: 61,161,844 T184A probably benign Het
Defb36 T C 2: 152,604,519 L11P unknown Het
Dock8 A G 19: 25,188,488 E1912G probably damaging Het
Dpp3 A G 19: 4,923,728 Y106H probably damaging Het
Epas1 A G 17: 86,805,282 T103A probably damaging Het
Epcam A T 17: 87,640,494 T131S probably benign Het
Fam169a A G 13: 97,094,055 probably benign Het
Gh T A 11: 106,301,733 probably benign Het
Kif20a A T 18: 34,628,943 K399* probably null Het
Lrp1b A G 2: 41,498,215 I466T probably damaging Het
Nlk A G 11: 78,574,851 V409A probably benign Het
Nomo1 A G 7: 46,044,307 probably null Het
Nr2c1 T A 10: 94,156,972 M16K probably damaging Het
Nxph2 A T 2: 23,399,900 Q88L probably benign Het
Olfr33 A G 7: 102,714,314 I33T possibly damaging Het
Pkdrej T A 15: 85,819,694 R680S probably benign Het
Pkhd1l1 A T 15: 44,540,950 N2325I probably benign Het
Pnliprp2 T C 19: 58,760,509 probably null Het
Ppp1r42 T A 1: 9,968,853 K347N probably benign Het
Prtg T C 9: 72,851,585 V407A possibly damaging Het
Psmb8 C A 17: 34,200,754 S194* probably null Het
Rnf214 T C 9: 45,869,474 I406V probably benign Het
Rreb1 C T 13: 37,893,821 S3L probably damaging Het
Sdad1 C T 5: 92,290,072 A539T probably benign Het
Sema3a A G 5: 13,451,161 Y57C probably damaging Het
Susd5 A G 9: 114,096,033 E328G possibly damaging Het
Syngr3 T C 17: 24,686,398 T175A probably damaging Het
Tcf20 T A 15: 82,856,080 Q390L probably damaging Het
Tex15 A G 8: 33,581,693 T2423A possibly damaging Het
Tlr1 T C 5: 64,927,126 N36S probably benign Het
Uchl4 C T 9: 64,235,537 T100M probably damaging Het
Uhrf1 A G 17: 56,305,129 K11R probably benign Het
Vps13b T A 15: 35,879,900 D3040E probably damaging Het
Wdr62 A T 7: 30,242,460 Y640* probably null 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
IGL03000:Zkscan17 APN 11 59487160 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
Posted On2015-04-16