Incidental Mutation 'R4853:Zkscan14'
ID 373707
Institutional Source Beutler Lab
Gene Symbol Zkscan14
Ensembl Gene ENSMUSG00000029627
Gene Name zinc finger with KRAB and SCAN domains 14
Synonyms Zfp99, 2810437E14Rik, 2310046C23Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R4853 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 145131756-145138678 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 145132001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 510 (V510A)
Ref Sequence ENSEMBL: ENSMUSP00000031632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031632] [ENSMUST00000037056] [ENSMUST00000161741] [ENSMUST00000162220] [ENSMUST00000162360] [ENSMUST00000198959]
AlphaFold Q9Z1D9
Predicted Effect probably benign
Transcript: ENSMUST00000031632
AA Change: V510A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031632
Gene: ENSMUSG00000029627
AA Change: V510A

DomainStartEndE-ValueType
SCAN 40 152 6.65e-65 SMART
KRAB 135 196 2.79e-13 SMART
low complexity region 258 269 N/A INTRINSIC
ZnF_C2H2 327 349 1.58e-3 SMART
ZnF_C2H2 355 377 4.01e-5 SMART
ZnF_C2H2 383 405 1.04e-3 SMART
ZnF_C2H2 411 432 2.82e0 SMART
ZnF_C2H2 438 460 4.54e-4 SMART
ZnF_C2H2 466 488 1.95e-3 SMART
ZnF_C2H2 494 516 1.69e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000037056
SMART Domains Protein: ENSMUSP00000039726
Gene: ENSMUSG00000038690

DomainStartEndE-ValueType
Pfam:WRW 1 73 1.4e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161741
SMART Domains Protein: ENSMUSP00000125504
Gene: ENSMUSG00000038690

DomainStartEndE-ValueType
Pfam:WRW 6 84 2.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161845
Predicted Effect probably benign
Transcript: ENSMUST00000162220
SMART Domains Protein: ENSMUSP00000124196
Gene: ENSMUSG00000029627

DomainStartEndE-ValueType
KRAB 1 62 2.79e-13 SMART
low complexity region 124 135 N/A INTRINSIC
ZnF_C2H2 193 215 1.58e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162360
Predicted Effect probably benign
Transcript: ENSMUST00000198959
SMART Domains Protein: ENSMUSP00000143630
Gene: ENSMUSG00000029627

DomainStartEndE-ValueType
SCAN 40 143 4.29e-59 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200584
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein that inhibits the transcription of mitogen-activated protein kinase signaling pathways. The encoded protein may be involved in cardiac function. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Abr T C 11: 76,355,087 (GRCm39) T244A probably damaging Het
Adcy10 T A 1: 165,375,782 (GRCm39) N803K probably benign Het
Afm T C 5: 90,699,326 (GRCm39) F590S probably damaging Het
Agk T C 6: 40,360,753 (GRCm39) probably null Het
Agrn C T 4: 156,270,007 (GRCm39) probably null Het
Apon A G 10: 128,090,951 (GRCm39) S210G probably benign Het
Atad5 A G 11: 79,986,098 (GRCm39) E395G probably damaging Het
AU018091 A T 7: 3,205,861 (GRCm39) L671H probably damaging Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Ccdc154 A T 17: 25,389,941 (GRCm39) I524F probably damaging Het
Clspn T A 4: 126,460,348 (GRCm39) I525K probably damaging Het
Cpne5 A T 17: 29,380,172 (GRCm39) V448E probably benign Het
Cps1 A G 1: 67,195,361 (GRCm39) I261V possibly damaging Het
Crybb2 T C 5: 113,211,054 (GRCm39) E78G probably damaging Het
Ctps1 G T 4: 120,411,207 (GRCm39) L270I probably damaging Het
Cyp19a1 T C 9: 54,074,060 (GRCm39) D431G probably benign Het
Cyp3a57 T G 5: 145,302,489 (GRCm39) V95G probably damaging Het
Ddx54 A G 5: 120,761,694 (GRCm39) D490G probably benign Het
Dnai2 A T 11: 114,635,917 (GRCm39) I301F probably benign Het
Dsg1b A G 18: 20,541,793 (GRCm39) S767G probably benign Het
Dsg1b A T 18: 20,523,189 (GRCm39) probably null Het
Ermap G A 4: 119,044,451 (GRCm39) P115L probably damaging Het
Esrra T G 19: 6,897,440 (GRCm39) T106P probably damaging Het
Exoc5 GTATT GT 14: 49,289,826 (GRCm39) probably benign Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gnl3 T C 14: 30,737,270 (GRCm39) K203E probably damaging Het
H2ac13 A G 13: 21,900,866 (GRCm39) E92G probably damaging Het
Habp2 G A 19: 56,299,623 (GRCm39) probably null Het
Kcnh3 A C 15: 99,139,970 (GRCm39) D952A possibly damaging Het
Kif27 T C 13: 58,459,072 (GRCm39) K920E probably benign Het
Kmt2e C T 5: 23,707,339 (GRCm39) P1634L probably damaging Het
Lamc1 A T 1: 153,104,846 (GRCm39) M1312K possibly damaging Het
Myh14 T A 7: 44,257,872 (GRCm39) Q1921L probably damaging Het
Ncor2 A G 5: 125,102,169 (GRCm39) V68A probably damaging Het
Ncor2 A G 5: 125,158,247 (GRCm39) F444L unknown Het
Nedd9 A G 13: 41,469,837 (GRCm39) Y439H probably benign Het
Nsd1 T A 13: 55,416,317 (GRCm39) H1454Q probably benign Het
Or10v9 T A 19: 11,832,645 (GRCm39) D224V probably benign Het
Or51v8 G T 7: 103,320,010 (GRCm39) T76K probably damaging Het
Or5i1 T G 2: 87,613,526 (GRCm39) F214C probably benign Het
Or9m1b A G 2: 87,836,448 (GRCm39) S216P probably damaging Het
P4ha2 G A 11: 54,010,996 (GRCm39) S337N probably benign Het
Pck1 T A 2: 172,996,507 (GRCm39) Y140* probably null Het
Phldb2 T C 16: 45,623,079 (GRCm39) M656V probably damaging Het
Pif1 T C 9: 65,500,858 (GRCm39) W559R probably damaging Het
Pllp T C 8: 95,406,022 (GRCm39) Y87C probably damaging Het
Ppp1r3a T C 6: 14,719,046 (GRCm39) N623D probably benign Het
Prkcg C T 7: 3,367,469 (GRCm39) R345C probably damaging Het
Rgl1 T C 1: 152,433,325 (GRCm39) I147V probably benign Het
Sdk1 T A 5: 142,132,018 (GRCm39) L1649Q probably damaging Het
Sema3b C T 9: 107,479,266 (GRCm39) probably null Het
Sh3rf3 G A 10: 58,919,341 (GRCm39) R486H probably damaging Het
Shoc1 T C 4: 59,072,345 (GRCm39) K624E possibly damaging Het
Slain2 A G 5: 73,105,941 (GRCm39) N192S probably benign Het
Slc22a16 T A 10: 40,450,047 (GRCm39) I161N probably damaging Het
Strip1 T C 3: 107,524,232 (GRCm39) K562E possibly damaging Het
Sumf1 A G 6: 108,162,456 (GRCm39) L21S probably benign Het
Sytl3 T A 17: 7,005,164 (GRCm39) S380T probably damaging Het
Tgfb1i1 T A 7: 127,847,840 (GRCm39) C74* probably null Het
Tmprss15 T G 16: 78,757,479 (GRCm39) I939L probably benign Het
Tpsb2 GGCTGCTGCTGCTGCTG GGCTGCTGCTGCTG 17: 25,585,536 (GRCm39) probably benign Het
Vwde A T 6: 13,215,639 (GRCm39) V139E probably damaging Het
Wdr27 A G 17: 15,137,475 (GRCm39) probably null Het
Other mutations in Zkscan14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Zkscan14 APN 5 145,132,806 (GRCm39) missense probably benign 0.13
IGL02005:Zkscan14 APN 5 145,132,419 (GRCm39) missense probably benign 0.03
R1672:Zkscan14 UTSW 5 145,138,464 (GRCm39) missense probably benign 0.02
R2166:Zkscan14 UTSW 5 145,132,944 (GRCm39) missense probably benign 0.00
R4169:Zkscan14 UTSW 5 145,132,985 (GRCm39) missense possibly damaging 0.55
R4789:Zkscan14 UTSW 5 145,132,444 (GRCm39) missense probably damaging 1.00
R4959:Zkscan14 UTSW 5 145,132,302 (GRCm39) missense probably benign 0.00
R5391:Zkscan14 UTSW 5 145,132,604 (GRCm39) missense probably benign 0.00
R5457:Zkscan14 UTSW 5 145,138,169 (GRCm39) missense probably benign 0.00
R6752:Zkscan14 UTSW 5 145,132,316 (GRCm39) missense probably damaging 1.00
R7619:Zkscan14 UTSW 5 145,132,169 (GRCm39) missense probably benign 0.04
R7736:Zkscan14 UTSW 5 145,132,319 (GRCm39) missense probably benign 0.10
R7952:Zkscan14 UTSW 5 145,132,708 (GRCm39) missense probably damaging 0.96
R8005:Zkscan14 UTSW 5 145,132,568 (GRCm39) missense possibly damaging 0.83
R8828:Zkscan14 UTSW 5 145,138,375 (GRCm39) nonsense probably null
R8910:Zkscan14 UTSW 5 145,132,190 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGATGTCCCAAACGACAATGC -3'
(R):5'- GATCGTTCATGTTTCCAGCCTG -3'

Sequencing Primer
(F):5'- ACCTTTAATCTCAACATACAGGAGG -3'
(R):5'- TTCCAGCCTGTTCAGACATCAGAG -3'
Posted On 2016-03-01