Incidental Mutation 'R5399:Zkscan17'
ID 429888
Institutional Source Beutler Lab
Gene Symbol Zkscan17
Ensembl Gene ENSMUSG00000020472
Gene Name zinc finger with KRAB and SCAN domains 17
Synonyms Zfp496, Nizp1
MMRRC Submission 042970-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5399 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 59376346-59397466 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 59393744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000098709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013262] [ENSMUST00000101150]
AlphaFold Q5SXI5
Predicted Effect probably null
Transcript: ENSMUST00000013262
SMART Domains Protein: ENSMUSP00000013262
Gene: ENSMUSG00000020472

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 null
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: ENSMUST00000138763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137442
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik G T 2: 152,282,788 (GRCm39) L214F probably damaging Het
Abcb1b T C 5: 8,877,410 (GRCm39) S657P probably benign Het
Abcb5 T A 12: 118,875,234 (GRCm39) Y646F probably benign Het
Agl A T 3: 116,575,277 (GRCm39) L620Q probably damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Arhgap23 A G 11: 97,391,743 (GRCm39) N1420S probably damaging Het
Barx2 A G 9: 31,765,407 (GRCm39) probably null Het
Birc6 C A 17: 74,911,573 (GRCm39) S28R possibly damaging Het
Bmal2 T G 6: 146,724,159 (GRCm39) D350E probably damaging Het
Btbd19 G A 4: 116,980,957 (GRCm39) A104V probably damaging Het
Casp4 A T 9: 5,324,928 (GRCm39) K247* probably null Het
Ccdc196 A C 12: 78,244,227 (GRCm39) N60T probably damaging Het
Clk4 T C 11: 51,166,084 (GRCm39) Y17H probably damaging Het
Cntnap1 A G 11: 101,074,142 (GRCm39) Q722R probably benign Het
Col6a6 A G 9: 105,586,306 (GRCm39) V1905A possibly damaging Het
Csmd1 C A 8: 16,760,613 (GRCm39) G174V probably damaging Het
Cul1 T A 6: 47,462,018 (GRCm39) probably null Het
Cux1 T C 5: 136,281,458 (GRCm39) E568G possibly damaging Het
Dnaaf2 A G 12: 69,243,516 (GRCm39) I515T probably damaging Het
Fbn1 T C 2: 125,174,253 (GRCm39) I1868V possibly damaging Het
Fcgbp G T 7: 27,804,480 (GRCm39) V1863L probably benign Het
G2e3 T C 12: 51,403,977 (GRCm39) probably null Het
Gabrr2 T C 4: 33,071,458 (GRCm39) probably null Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gbgt1 C T 2: 28,393,230 (GRCm39) P106L probably damaging Het
Golga3 A G 5: 110,352,890 (GRCm39) E927G probably damaging Het
Hfm1 T A 5: 107,065,428 (GRCm39) I84F possibly damaging Het
Htt G T 5: 35,034,495 (GRCm39) D1989Y probably damaging Het
Ihh C T 1: 74,985,436 (GRCm39) A350T probably benign Het
Irx4 G C 13: 73,413,658 (GRCm39) A43P probably benign Het
Itk A G 11: 46,228,938 (GRCm39) V414A probably benign Het
Itsn2 A T 12: 4,703,535 (GRCm39) I744L probably benign Het
Kdm5b G A 1: 134,549,836 (GRCm39) probably null Het
Kif14 A G 1: 136,431,062 (GRCm39) D1153G probably benign Het
Morc3 A G 16: 93,659,427 (GRCm39) probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Msc A T 1: 14,825,780 (GRCm39) C65S probably benign Het
Mybpc1 A G 10: 88,358,876 (GRCm39) V343A probably damaging Het
Myo5c T C 9: 75,195,356 (GRCm39) I1218T possibly damaging Het
Mypn C T 10: 62,955,965 (GRCm39) V1163I probably benign Het
Obox3 A T 7: 15,360,213 (GRCm39) M152K probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t47 A G 11: 58,442,969 (GRCm39) V32A probably benign Het
Or4c106 T A 2: 88,682,999 (GRCm39) L235H probably damaging Het
Or4c3 T A 2: 89,852,267 (GRCm39) T48S probably benign Het
Pcdhb21 G T 18: 37,648,772 (GRCm39) V634L probably benign Het
Ppp1r9b G A 11: 94,882,974 (GRCm39) A201T probably benign Het
Pramel25 T C 4: 143,521,602 (GRCm39) F406S probably benign Het
Prss23 A T 7: 89,159,174 (GRCm39) D298E probably benign Het
Rab4b A T 7: 26,875,587 (GRCm39) N31K probably benign Het
Ros1 A G 10: 51,967,040 (GRCm39) probably null Het
Rragb G A X: 151,923,550 (GRCm39) G24E probably damaging Het
Rtl1 A T 12: 109,556,736 (GRCm39) L1701Q probably damaging Het
Sbno1 T A 5: 124,530,804 (GRCm39) N831Y probably benign Het
Selp A G 1: 163,954,155 (GRCm39) K152E possibly damaging Het
Sema4b A G 7: 79,874,634 (GRCm39) T675A probably benign Het
Slc36a3 T C 11: 55,037,006 (GRCm39) I100V possibly damaging Het
Slco1a4 T A 6: 141,776,433 (GRCm39) I196F probably damaging Het
Spata13 G A 14: 60,984,990 (GRCm39) S828N probably benign Het
Stard13 A T 5: 150,971,266 (GRCm39) Y643* probably null Het
Tll1 T C 8: 64,538,522 (GRCm39) H374R probably damaging Het
Trmt10a T A 3: 137,853,265 (GRCm39) I42K probably damaging Het
Trmu A T 15: 85,780,609 (GRCm39) probably null Het
Trp53 T A 11: 69,479,372 (GRCm39) D183E probably benign Het
Ttc22 T G 4: 106,493,954 (GRCm39) F305V probably damaging Het
Unc13c A G 9: 73,656,970 (GRCm39) F1077S possibly damaging Het
Utrn T A 10: 12,516,727 (GRCm39) Q2289L probably damaging Het
Vmn1r65 C A 7: 6,011,809 (GRCm39) E142* probably null Het
Vmn2r63 A T 7: 42,577,701 (GRCm39) V279D probably benign Het
Zfp810 G A 9: 22,190,125 (GRCm39) T261I possibly damaging Het
Other mutations in Zkscan17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Zkscan17 APN 11 59,378,364 (GRCm39) missense probably benign 0.09
IGL01755:Zkscan17 APN 11 59,378,241 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGAGGACTCAATACCAAGAGACTC -3'
(R):5'- GGCCGGGCTTTATCATACTC -3'

Sequencing Primer
(F):5'- TCAATACCAAGAGACTCTGTGTC -3'
(R):5'- ATTGCAGCTCAAGCACTGTG -3'
Posted On 2016-09-06