Incidental Mutation 'IGL02901:Zkscan16'
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ID363609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zkscan16
Ensembl Gene ENSMUSG00000038630
Gene Namezinc finger with KRAB and SCAN domains 16
SynonymsZfp483
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL02901
Quality Score
Status
Chromosome4
Chromosomal Location58943628-58958355 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58946283 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 53 (W53R)
Ref Sequence ENSEMBL: ENSMUSP00000103178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107554]
Predicted Effect probably damaging
Transcript: ENSMUST00000107554
AA Change: W53R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103178
Gene: ENSMUSG00000038630
AA Change: W53R

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A T 2: 131,561,604 Y189N probably damaging Het
Ahdc1 A G 4: 133,064,934 D1162G possibly damaging Het
Alpk2 A G 18: 65,306,411 M637T probably benign Het
Arvcf G A 16: 18,398,242 A440T probably damaging Het
BC051665 A T 13: 60,784,718 V51E probably damaging Het
Clca3a2 A T 3: 144,816,768 V164E probably damaging Het
Cox6a2 A C 7: 128,206,282 L5R probably damaging Het
Cpsf1 A T 15: 76,599,496 L849* probably null Het
Dclk1 A G 3: 55,487,787 probably benign Het
Fam120b T A 17: 15,407,702 probably benign Het
Iqub A G 6: 24,454,195 L563P probably damaging Het
Itgb3 A T 11: 104,637,946 I300F probably benign Het
Mdga2 A G 12: 66,797,809 probably benign Het
Mfsd6 A G 1: 52,708,473 I411T probably benign Het
Misp A T 10: 79,826,937 Y396F possibly damaging Het
Nhsl2 T A X: 102,079,243 V884D probably benign Het
Nxf7 A T X: 135,587,235 probably null Het
Olfr120 T A 17: 37,726,420 I132K probably damaging Het
Olfr1271 G A 2: 90,265,708 H241Y probably damaging Het
Palld T A 8: 61,876,995 K283* probably null Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Proc T G 18: 32,123,625 T330P possibly damaging Het
Prpf38a T C 4: 108,568,418 D221G probably damaging Het
Prss55 T A 14: 64,077,127 N198I probably damaging Het
Rabggta A G 14: 55,721,681 S10P probably benign Het
Sbk2 A G 7: 4,957,290 Y294H possibly damaging Het
Smyd1 A G 6: 71,238,630 V115A probably benign Het
Trpm7 A G 2: 126,807,287 probably null Het
Ttc21a A G 9: 119,958,281 N751S probably damaging Het
Upk1a A T 7: 30,603,779 M241K possibly damaging Het
Vmn2r71 A C 7: 85,619,262 E224D probably benign Het
Vmn2r81 C T 10: 79,270,730 T514I probably damaging 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
IGL03399:Zkscan16 APN 4 58956915 missense probably benign 0.33
R0271:Zkscan16 UTSW 4 58952391 missense probably benign 0.33
R0317:Zkscan16 UTSW 4 58957602 missense possibly damaging 0.86
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
Z1176:Zkscan16 UTSW 4 58957052 missense probably damaging 1.00
Z1177:Zkscan16 UTSW 4 58948909 missense probably benign 0.07
Posted On2015-12-18