Incidental Mutation 'R0317:Zkscan16'
ID25435
Institutional Source Beutler Lab
Gene Symbol Zkscan16
Ensembl Gene ENSMUSG00000038630
Gene Namezinc finger with KRAB and SCAN domains 16
SynonymsZfp483
MMRRC Submission 038527-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #R0317 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location58943628-58958355 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 58957602 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 628 (C628Y)
Ref Sequence ENSEMBL: ENSMUSP00000103178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107554]
Predicted Effect possibly damaging
Transcript: ENSMUST00000107554
AA Change: C628Y

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103178
Gene: ENSMUSG00000038630
AA Change: C628Y

DomainStartEndE-ValueType
SCAN 44 153 1.9e-42 SMART
KRAB 170 230 1.66e-20 SMART
internal_repeat_1 281 452 7.49e-5 PROSPERO
ZnF_C2H2 483 505 4.79e-3 SMART
ZnF_C2H2 511 533 2.75e-3 SMART
ZnF_C2H2 539 561 1.6e-4 SMART
ZnF_C2H2 567 589 5.99e-4 SMART
ZnF_C2H2 595 617 1.99e0 SMART
ZnF_C2H2 623 645 5.14e-3 SMART
ZnF_C2H2 651 673 2.65e-5 SMART
ZnF_C2H2 679 701 1.82e-3 SMART
ZnF_C2H2 706 725 4.74e1 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,293,459 V1774A probably damaging Het
Adam34 G A 8: 43,652,251 P119L probably benign Het
Ap3b2 T C 7: 81,463,681 probably null Het
Arfip2 G A 7: 105,637,223 T124M probably damaging Het
Arhgef26 T C 3: 62,423,544 S560P probably damaging Het
Bcl11a A T 11: 24,172,697 probably null Het
Cab39 A G 1: 85,849,160 E322G probably damaging Het
Cad C A 5: 31,072,321 P1382Q probably benign Het
Cc2d2a T C 5: 43,706,901 probably null Het
Cela2a A T 4: 141,821,700 probably null Het
Ces1e A C 8: 93,224,039 I38S probably benign Het
Ces1f A T 8: 93,263,391 F364I probably benign Het
Chgb A G 2: 132,793,811 T558A probably benign Het
Cnpy4 C T 5: 138,192,812 Q217* probably null Het
Col4a3bp C T 13: 96,634,121 R487* probably null Het
Crlf1 A G 8: 70,498,599 T43A probably benign Het
Dnah7b T A 1: 46,134,656 M707K probably damaging Het
Ets2 G A 16: 95,712,149 S123N probably damaging Het
Fam196b C A 11: 34,402,826 D289E possibly damaging Het
Fry T C 5: 150,471,468 F304S probably damaging Het
Gadd45gip1 G A 8: 84,834,116 R120H probably benign Het
Gbf1 A G 19: 46,254,020 T96A probably benign Het
Ggn T A 7: 29,171,090 M1K probably null Het
Gm5239 A G 18: 35,536,916 T112A probably benign Het
Kif1bp A T 10: 62,578,082 probably null Het
Lrrc15 A T 16: 30,273,743 H259Q probably benign Het
Lysmd4 A G 7: 67,226,297 Y236C probably damaging Het
Med29 T C 7: 28,386,859 T175A possibly damaging Het
Mfsd12 G T 10: 81,357,799 D68Y probably damaging Het
Myh1 T C 11: 67,217,512 L1308P probably damaging Het
Nphp4 T A 4: 152,551,931 probably null Het
Olfr948 A G 9: 39,319,461 I51T probably benign Het
Pdhx A G 2: 103,028,280 V393A probably benign Het
Pgm5 A G 19: 24,824,399 I155T possibly damaging Het
Pgr A T 9: 8,965,022 I889F probably benign Het
Phactr4 T A 4: 132,386,930 K51I probably damaging Het
Pum2 T A 12: 8,728,754 I468K possibly damaging Het
Rab11a A G 9: 64,725,553 S24P probably damaging Het
Rasef T C 4: 73,748,562 Q160R probably damaging Het
Rbl2 A G 8: 91,087,144 D339G probably benign Het
Recql5 A G 11: 115,894,673 S666P probably benign Het
Rfc1 A T 5: 65,296,052 probably null Het
Scarb1 A G 5: 125,289,692 V59A probably damaging Het
Slc2a4 C T 11: 69,946,356 V85M probably damaging Het
Slc6a12 A G 6: 121,358,625 I291V possibly damaging Het
Slco3a1 A C 7: 74,504,426 Y104D probably damaging Het
Suz12 T A 11: 79,999,078 D13E probably damaging Het
Tlr1 G T 5: 64,925,967 C422* probably null Het
Tmco1 T C 1: 167,325,893 V114A probably damaging Het
Trpa1 T C 1: 14,881,632 T948A probably benign Het
Tub A T 7: 109,020,927 N93Y probably damaging Het
Ufsp2 G A 8: 45,992,233 probably null Het
Veph1 T C 3: 66,171,975 D373G probably benign Het
Vmn1r206 A G 13: 22,620,960 S26P possibly damaging Het
Vmn2r1 T C 3: 64,081,819 S60P possibly damaging Het
Wdcp A G 12: 4,851,583 S480G probably benign Het
Wnk4 T C 11: 101,268,804 S612P probably benign Het
Zfp503 T C 14: 21,986,459 K130E probably benign Het
Other mutations in Zkscan16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Zkscan16 APN 4 58957709 missense possibly damaging 0.86
IGL01296:Zkscan16 APN 4 58956690 missense possibly damaging 0.53
IGL01330:Zkscan16 APN 4 58956483 missense possibly damaging 0.85
IGL02143:Zkscan16 APN 4 58956911 missense probably damaging 1.00
IGL02901:Zkscan16 APN 4 58946283 missense probably damaging 0.98
IGL03399:Zkscan16 APN 4 58956915 missense probably benign 0.33
R0271:Zkscan16 UTSW 4 58952391 missense probably benign 0.33
R0542:Zkscan16 UTSW 4 58956597 missense possibly damaging 0.53
R1417:Zkscan16 UTSW 4 58952377 missense probably benign 0.33
R1674:Zkscan16 UTSW 4 58948918 missense possibly damaging 0.96
R2014:Zkscan16 UTSW 4 58956525 missense possibly damaging 0.96
R2246:Zkscan16 UTSW 4 58957329 missense probably benign 0.09
R2352:Zkscan16 UTSW 4 58951869 missense possibly damaging 0.71
R2851:Zkscan16 UTSW 4 58957364 missense possibly damaging 0.71
R2852:Zkscan16 UTSW 4 58957364 missense possibly damaging 0.71
R3896:Zkscan16 UTSW 4 58946125 start gained probably benign
R4488:Zkscan16 UTSW 4 58957431 missense possibly damaging 0.89
R4631:Zkscan16 UTSW 4 58951918 missense probably damaging 0.98
R4825:Zkscan16 UTSW 4 58957809 missense possibly damaging 0.73
R4912:Zkscan16 UTSW 4 58946506 missense possibly damaging 0.85
R5014:Zkscan16 UTSW 4 58951892 missense probably damaging 0.97
R5411:Zkscan16 UTSW 4 58956745 frame shift probably null
R5642:Zkscan16 UTSW 4 58957748 missense probably benign 0.11
R5809:Zkscan16 UTSW 4 58946481 missense probably damaging 0.98
R6089:Zkscan16 UTSW 4 58948889 missense possibly damaging 0.85
R6152:Zkscan16 UTSW 4 58946260 missense possibly damaging 0.85
R6469:Zkscan16 UTSW 4 58956483 missense probably damaging 0.98
R7662:Zkscan16 UTSW 4 58957679 nonsense probably null
R7790:Zkscan16 UTSW 4 58951843 nonsense probably null
X0020:Zkscan16 UTSW 4 58956747 missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CGTTACAAGTGCGACGAATGTGGG -3'
(R):5'- AATGAGGATTGTGCTCCGGGTAAAG -3'

Sequencing Primer
(F):5'- actactcgtcattttatcaacacc -3'
(R):5'- TAAAGGCCGCTCcacagtaatc -3'
Posted On2013-04-16