Incidental Mutation 'IGL02143:Zkscan16'
ID 281688
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 # IGL02143
Quality Score
Status
Chromosome 4
Chromosomal Location 58943628-58958355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58956911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 398 (G398R)
Ref Sequence ENSEMBL: ENSMUSP00000103178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107554]
AlphaFold A2ALW2
Predicted Effect probably damaging
Transcript: ENSMUST00000107554
AA Change: G398R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103178
Gene: ENSMUSG00000038630
AA Change: G398R

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,194,278 (GRCm39) M1T probably null Het
Ager G A 17: 34,818,092 (GRCm39) G183E probably damaging Het
Alcam C A 16: 52,125,982 (GRCm39) V112L probably damaging Het
Amot T A X: 144,270,024 (GRCm39) Q204H probably damaging Het
Ankar C T 1: 72,697,808 (GRCm39) probably null Het
Armc9 A G 1: 86,104,587 (GRCm39) M279V possibly damaging Het
Bpifb1 C T 2: 154,051,849 (GRCm39) T218I probably benign Het
Cacna1f A C X: 7,480,234 (GRCm39) probably benign Het
Cacna2d2 T C 9: 107,395,474 (GRCm39) probably null Het
Ccdc57 A T 11: 120,752,069 (GRCm39) C837* probably null Het
Ctbp2 G A 7: 132,592,885 (GRCm39) A808V probably damaging Het
Dcbld2 T C 16: 58,268,889 (GRCm39) probably null Het
Dis3 T C 14: 99,328,754 (GRCm39) probably benign Het
Disp2 T C 2: 118,620,450 (GRCm39) F394S probably damaging Het
Dnah1 T C 14: 31,005,246 (GRCm39) N2336S probably damaging Het
Drap1 C A 19: 5,473,871 (GRCm39) L66F probably damaging Het
Eif5a2 C T 3: 28,847,888 (GRCm39) R109C probably benign Het
Enpp1 A T 10: 24,553,872 (GRCm39) D105E probably damaging Het
Evi5l G A 8: 4,241,293 (GRCm39) M275I probably damaging Het
Flt1 T C 5: 147,515,246 (GRCm39) T1059A probably benign Het
Fndc3c1 T C X: 105,516,340 (GRCm39) probably benign Het
Git1 T C 11: 77,396,813 (GRCm39) V645A possibly damaging Het
Gm7735 T A 16: 88,966,437 (GRCm39) C20* probably null Het
Ighv1-42 G T 12: 114,900,906 (GRCm39) P60T probably benign Het
Jakmip2 A T 18: 43,696,350 (GRCm39) L533Q probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Lpin2 T C 17: 71,550,921 (GRCm39) S694P probably damaging Het
Mab21l2 C T 3: 86,454,562 (GRCm39) R146Q possibly damaging Het
Mmp1b A T 9: 7,386,400 (GRCm39) S174T probably benign Het
Neb T C 2: 52,181,211 (GRCm39) Y1132C probably damaging Het
Nhsl1 A T 10: 18,387,383 (GRCm39) H219L possibly damaging Het
Nwd2 T A 5: 63,948,996 (GRCm39) probably null Het
Obp1a A C X: 77,134,449 (GRCm39) M18R possibly damaging Het
Or13a19 A T 7: 139,903,505 (GRCm39) K298* probably null Het
Or2ag13 T C 7: 106,473,180 (GRCm39) T91A probably benign Het
Pabpc5 T A X: 118,837,688 (GRCm39) M1K probably null Het
Paxip1 A G 5: 27,980,596 (GRCm39) probably benign Het
Perm1 A G 4: 156,302,500 (GRCm39) E348G probably benign Het
Pfkfb1 T C X: 149,405,138 (GRCm39) F170L probably damaging Het
Pou3f3 A G 1: 42,737,686 (GRCm39) M461V probably benign Het
Ppfia2 G A 10: 106,693,360 (GRCm39) D622N probably damaging Het
Prtg T G 9: 72,799,606 (GRCm39) S801R probably damaging Het
Rars2 T A 4: 34,623,404 (GRCm39) probably benign Het
Rasal1 A G 5: 120,790,917 (GRCm39) D35G probably damaging Het
Repin1 T A 6: 48,574,055 (GRCm39) L272Q probably damaging Het
Spmip5 C A 19: 58,777,684 (GRCm39) R34L possibly damaging Het
Stk36 T C 1: 74,655,728 (GRCm39) probably benign Het
Tbxa2r A G 10: 81,170,320 (GRCm39) T269A probably benign Het
Tmem132c G A 5: 127,640,466 (GRCm39) R879Q probably benign Het
Vmn1r78 C A 7: 11,886,407 (GRCm39) A6E probably benign Het
Vps45 A T 3: 95,941,133 (GRCm39) N369K probably benign Het
Vps45 T C 3: 95,926,958 (GRCm39) I530V probably benign Het
Other mutations in Zkscan16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Zkscan16 APN 4 58,957,709 (GRCm39) missense possibly damaging 0.86
IGL01296:Zkscan16 APN 4 58,956,690 (GRCm39) missense possibly damaging 0.53
IGL01330:Zkscan16 APN 4 58,956,483 (GRCm39) missense possibly damaging 0.85
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 2015-04-16