Incidental Mutation 'IGL01296:Zkscan16'
ID 73142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zkscan16
Ensembl Gene ENSMUSG00000038630
Gene Name zinc finger with KRAB and SCAN domains 16
Synonyms Zfp483
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01296
Quality Score
Status
Chromosome 4
Chromosomal Location 58943628-58958355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58956690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 324 (H324R)
Ref Sequence ENSEMBL: ENSMUSP00000103178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107554]
AlphaFold A2ALW2
Predicted Effect possibly damaging
Transcript: ENSMUST00000107554
AA Change: H324R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103178
Gene: ENSMUSG00000038630
AA Change: H324R

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A G 1: 66,880,864 (GRCm39) S301P probably damaging Het
Adam34 A G 8: 44,104,178 (GRCm39) V489A possibly damaging Het
Adcy8 G A 15: 64,655,628 (GRCm39) T617I probably damaging Het
Aggf1 T C 13: 95,490,479 (GRCm39) D605G probably damaging Het
Atp10a T A 7: 58,463,373 (GRCm39) F969I probably benign Het
Becn1 A T 11: 101,182,277 (GRCm39) N97K probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Crtac1 A T 19: 42,272,652 (GRCm39) C578S probably damaging Het
Dcp1b A G 6: 119,192,319 (GRCm39) K412E probably damaging Het
Dlg2 T A 7: 91,589,267 (GRCm39) I327N probably damaging Het
Ehf T A 2: 103,098,500 (GRCm39) probably null Het
Elavl4 T C 4: 110,063,809 (GRCm39) N264S probably benign Het
Enpp2 A T 15: 54,739,065 (GRCm39) I406N probably damaging Het
F10 A T 8: 13,105,383 (GRCm39) Y316F possibly damaging Het
Fam20a A G 11: 109,576,177 (GRCm39) I194T possibly damaging Het
Fcgbp T C 7: 27,789,072 (GRCm39) V546A probably benign Het
Fras1 A T 5: 96,821,557 (GRCm39) Q1438L probably null Het
Gm43638 T C 5: 87,608,451 (GRCm39) I463V probably benign Het
H2-T10 T C 17: 36,431,602 (GRCm39) D84G probably benign Het
Itpr1 T C 6: 108,376,322 (GRCm39) F1262L probably damaging Het
Lama1 A G 17: 68,052,046 (GRCm39) N335D probably benign Het
Lasp1 T C 11: 97,727,016 (GRCm39) V246A probably damaging Het
Lrrk2 A T 15: 91,567,345 (GRCm39) I135L probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mctp2 T C 7: 71,878,274 (GRCm39) K268R probably benign Het
Nbea A T 3: 55,938,957 (GRCm39) H710Q probably benign Het
Notch3 G A 17: 32,385,731 (GRCm39) R13C unknown Het
Ogfod1 A T 8: 94,782,299 (GRCm39) probably benign Het
Or1j11 A G 2: 36,311,716 (GRCm39) Y102C probably benign Het
Or5b111 A G 19: 13,291,490 (GRCm39) L53P probably damaging Het
Or8d2 T C 9: 38,759,548 (GRCm39) I46T probably damaging Het
Pgm3 A G 9: 86,443,932 (GRCm39) V324A probably damaging Het
Ppfia2 A T 10: 106,694,068 (GRCm39) I681F probably damaging Het
Prss23 T C 7: 89,159,095 (GRCm39) K325E possibly damaging Het
Psmd7 T A 8: 108,313,249 (GRCm39) probably benign Het
Rfx2 T A 17: 57,115,317 (GRCm39) M1L possibly damaging Het
Rpa1 T C 11: 75,203,141 (GRCm39) Y418C probably damaging Het
Rps6kc1 C T 1: 190,505,875 (GRCm39) R1029H probably damaging Het
Septin10 A G 10: 59,002,422 (GRCm39) V391A probably benign Het
Skint6 A G 4: 113,093,637 (GRCm39) F169L probably benign Het
Slc44a4 C T 17: 35,140,674 (GRCm39) T289I probably benign Het
Spata31e5 T C 1: 28,816,137 (GRCm39) I632V probably benign Het
Srl T C 16: 4,315,546 (GRCm39) D32G probably damaging Het
Stxbp3-ps T A 19: 9,535,256 (GRCm39) noncoding transcript Het
Sult1b1 T C 5: 87,662,815 (GRCm39) D295G probably benign Het
Tmprss7 A G 16: 45,504,937 (GRCm39) V151A probably damaging Het
Trmo A G 4: 46,387,589 (GRCm39) L84P probably damaging Het
Vmn2r98 T A 17: 19,285,447 (GRCm39) I89N probably damaging Het
Zcwpw1 G A 5: 137,795,061 (GRCm39) A86T probably benign Het
Other mutations in Zkscan16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Zkscan16 APN 4 58,957,709 (GRCm39) missense possibly damaging 0.86
IGL01330:Zkscan16 APN 4 58,956,483 (GRCm39) missense possibly damaging 0.85
IGL02143:Zkscan16 APN 4 58,956,911 (GRCm39) missense probably damaging 1.00
IGL02901:Zkscan16 APN 4 58,946,283 (GRCm39) missense probably damaging 0.98
IGL03399:Zkscan16 APN 4 58,956,915 (GRCm39) missense probably benign 0.33
R0271:Zkscan16 UTSW 4 58,952,391 (GRCm39) missense probably benign 0.33
R0317:Zkscan16 UTSW 4 58,957,602 (GRCm39) missense possibly damaging 0.86
R0542:Zkscan16 UTSW 4 58,956,597 (GRCm39) missense possibly damaging 0.53
R1417:Zkscan16 UTSW 4 58,952,377 (GRCm39) missense probably benign 0.33
R1674:Zkscan16 UTSW 4 58,948,918 (GRCm39) missense possibly damaging 0.96
R2014:Zkscan16 UTSW 4 58,956,525 (GRCm39) missense possibly damaging 0.96
R2246:Zkscan16 UTSW 4 58,957,329 (GRCm39) missense probably benign 0.09
R2352:Zkscan16 UTSW 4 58,951,869 (GRCm39) missense possibly damaging 0.71
R2851:Zkscan16 UTSW 4 58,957,364 (GRCm39) missense possibly damaging 0.71
R2852:Zkscan16 UTSW 4 58,957,364 (GRCm39) missense possibly damaging 0.71
R3896:Zkscan16 UTSW 4 58,946,125 (GRCm39) start gained probably benign
R4488:Zkscan16 UTSW 4 58,957,431 (GRCm39) missense possibly damaging 0.89
R4631:Zkscan16 UTSW 4 58,951,918 (GRCm39) missense probably damaging 0.98
R4825:Zkscan16 UTSW 4 58,957,809 (GRCm39) missense possibly damaging 0.73
R4912:Zkscan16 UTSW 4 58,946,506 (GRCm39) missense possibly damaging 0.85
R5014:Zkscan16 UTSW 4 58,951,892 (GRCm39) missense probably damaging 0.97
R5411:Zkscan16 UTSW 4 58,956,745 (GRCm39) frame shift probably null
R5642:Zkscan16 UTSW 4 58,957,748 (GRCm39) missense probably benign 0.11
R5809:Zkscan16 UTSW 4 58,946,481 (GRCm39) missense probably damaging 0.98
R6089:Zkscan16 UTSW 4 58,948,889 (GRCm39) missense possibly damaging 0.85
R6152:Zkscan16 UTSW 4 58,946,260 (GRCm39) missense possibly damaging 0.85
R6469:Zkscan16 UTSW 4 58,956,483 (GRCm39) missense probably damaging 0.98
R7662:Zkscan16 UTSW 4 58,957,679 (GRCm39) nonsense probably null
R7790:Zkscan16 UTSW 4 58,951,843 (GRCm39) nonsense probably null
R8150:Zkscan16 UTSW 4 58,952,407 (GRCm39) missense probably benign 0.06
R8359:Zkscan16 UTSW 4 58,957,230 (GRCm39) missense possibly damaging 0.92
R9022:Zkscan16 UTSW 4 58,957,021 (GRCm39) missense probably benign 0.03
R9133:Zkscan16 UTSW 4 58,957,722 (GRCm39) missense possibly damaging 0.93
R9641:Zkscan16 UTSW 4 58,956,577 (GRCm39) missense probably benign 0.00
R9745:Zkscan16 UTSW 4 58,957,473 (GRCm39) missense possibly damaging 0.93
X0020:Zkscan16 UTSW 4 58,956,747 (GRCm39) missense possibly damaging 0.91
Z1176:Zkscan16 UTSW 4 58,957,052 (GRCm39) missense probably damaging 1.00
Z1177:Zkscan16 UTSW 4 58,948,909 (GRCm39) missense probably benign 0.07
Posted On 2013-10-07