Incidental Mutation 'R1417:Zkscan16'
ID 159847
Institutional Source Beutler Lab
Gene Symbol Zkscan16
Ensembl Gene ENSMUSG00000038630
Gene Name zinc finger with KRAB and SCAN domains 16
Synonyms Zfp483
MMRRC Submission 039473-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1417 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 58943628-58958355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58952377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 225 (V225A)
Ref Sequence ENSEMBL: ENSMUSP00000103178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107554]
AlphaFold A2ALW2
Predicted Effect probably benign
Transcript: ENSMUST00000107554
AA Change: V225A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103178
Gene: ENSMUSG00000038630
AA Change: V225A

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: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 A G 16: 29,117,053 (GRCm39) V565A probably benign Het
Atp6v1b1 T C 6: 83,730,862 (GRCm39) S196P probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ces1a C T 8: 93,749,044 (GRCm39) D456N probably benign Het
Clu T A 14: 66,212,420 (GRCm39) Y124* probably null Het
Cnnm1 A G 19: 43,458,162 (GRCm39) E658G probably benign Het
Dnah9 T C 11: 65,846,573 (GRCm39) E2913G probably damaging Het
Edc4 G A 8: 106,614,487 (GRCm39) probably null Het
Enox1 C T 14: 77,723,445 (GRCm39) probably benign Het
G6pc2 T C 2: 69,053,312 (GRCm39) V122A probably damaging Het
Galns T C 8: 123,311,652 (GRCm39) S453G possibly damaging Het
Gm12185 A C 11: 48,798,669 (GRCm39) V608G probably damaging Het
Hbq1a A G 11: 32,250,722 (GRCm39) D135G probably benign Het
Hspg2 A G 4: 137,244,947 (GRCm39) T891A probably benign Het
Ift172 T C 5: 31,413,993 (GRCm39) Y1445C probably damaging Het
Ipo8 C T 6: 148,719,550 (GRCm39) D132N probably benign Het
Klhl11 T C 11: 100,363,115 (GRCm39) E147G probably benign Het
Kmt2d A T 15: 98,764,311 (GRCm39) V41D probably damaging Het
Lrp1b T C 2: 40,894,653 (GRCm39) I2306V probably benign Het
Lrp5 A G 19: 3,636,425 (GRCm39) V1514A probably benign Het
Lrrtm2 A T 18: 35,347,011 (GRCm39) I97N probably damaging Het
Mtmr3 C A 11: 4,437,923 (GRCm39) V844L probably benign Het
Myh8 A G 11: 67,197,011 (GRCm39) E1832G probably damaging Het
Or4n5 T A 14: 50,133,020 (GRCm39) R80* probably null Het
Pcdhb16 A G 18: 37,611,180 (GRCm39) T47A probably benign Het
Pfkp T C 13: 6,655,755 (GRCm39) K293E probably benign Het
Phlpp2 G T 8: 110,667,313 (GRCm39) E1281* probably null Het
Prss23 T A 7: 89,159,392 (GRCm39) T226S probably damaging Het
Slc8a1 T G 17: 81,715,709 (GRCm39) M775L probably damaging Het
Stx12 A G 4: 132,587,853 (GRCm39) probably null Het
Syt11 A T 3: 88,669,289 (GRCm39) I201N probably damaging Het
Ttc21a A G 9: 119,783,327 (GRCm39) N543S probably damaging Het
Usf3 A G 16: 44,037,812 (GRCm39) N764S probably benign Het
Xylb A G 9: 119,193,606 (GRCm39) D100G probably benign Het
Zfp423 T C 8: 88,500,284 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- TATCTTCTGGGCATCTGGGACCTG -3'
(R):5'- GGCGAGGCTCTTTCCTAATCCATC -3'

Sequencing Primer
(F):5'- ATCTGGGACCTGACATGACTG -3'
(R):5'- GCTCTTTCCTAATCCATCAACCG -3'
Posted On 2014-03-14