Incidental Mutation 'R4789:Zkscan14'
ID 367309
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: 0.330) question?
Stock # R4789 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 145131756-145138678 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 145132444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 362 (K362N)
Ref Sequence ENSEMBL: ENSMUSP00000031632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031632] [ENSMUST00000037056] [ENSMUST00000161741] [ENSMUST00000162220] [ENSMUST00000162360] [ENSMUST00000198959]
AlphaFold Q9Z1D9
Predicted Effect probably damaging
Transcript: ENSMUST00000031632
AA Change: K362N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031632
Gene: ENSMUSG00000029627
AA Change: K362N

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 possibly damaging
Transcript: ENSMUST00000162220
AA Change: K228N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124196
Gene: ENSMUSG00000029627
AA Change: K228N

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 noncoding transcript
Transcript: ENSMUST00000200584
Predicted Effect probably benign
Transcript: ENSMUST00000198959
SMART Domains Protein: ENSMUSP00000143630
Gene: ENSMUSG00000029627

DomainStartEndE-ValueType
SCAN 40 143 4.29e-59 SMART
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik C A 7: 115,692,757 (GRCm39) D20E probably benign Het
Abcb9 T A 5: 124,216,853 (GRCm39) M455L probably benign Het
Add2 G A 6: 86,095,752 (GRCm39) V475M probably benign Het
Apoh T A 11: 108,300,064 (GRCm39) Y238N probably damaging Het
Arpp21 A G 9: 111,896,360 (GRCm39) S681P probably benign Het
Atp1a3 A C 7: 24,698,389 (GRCm39) F149C probably damaging Het
B9d1 A G 11: 61,397,186 (GRCm39) D27G probably benign Het
Bfar T A 16: 13,503,001 (GRCm39) M1K probably null Het
Bok T C 1: 93,616,963 (GRCm39) V103A probably damaging Het
Brca1 A C 11: 101,414,758 (GRCm39) H1125Q probably benign Het
Card9 T A 2: 26,247,632 (GRCm39) M218L probably damaging Het
Cers1 T C 8: 70,776,018 (GRCm39) V303A probably damaging Het
Col6a5 T C 9: 105,814,534 (GRCm39) I493V unknown Het
Coro7 T C 16: 4,446,085 (GRCm39) Y880C probably damaging Het
Cyp2b19 T C 7: 26,463,801 (GRCm39) Y318H probably benign Het
Dennd3 T A 15: 73,394,131 (GRCm39) L52Q probably damaging Het
Dlat A T 9: 50,570,670 (GRCm39) C33S probably benign Het
Dmxl2 T A 9: 54,287,099 (GRCm39) Q2646L probably benign Het
Dnah3 T C 7: 119,610,295 (GRCm39) N1703D probably damaging Het
Dock10 T A 1: 80,518,998 (GRCm39) H1241L probably damaging Het
Fbxl17 T G 17: 63,794,910 (GRCm39) I391L probably benign Het
Fdxacb1 A G 9: 50,681,418 (GRCm39) D113G possibly damaging Het
Flii A G 11: 60,605,919 (GRCm39) S1185P probably benign Het
Gm14496 A T 2: 181,637,577 (GRCm39) Q217L possibly damaging Het
Heatr9 A T 11: 83,410,018 (GRCm39) D74E probably benign Het
Heca C A 10: 17,783,895 (GRCm39) E91* probably null Het
Ikzf4 T G 10: 128,468,575 (GRCm39) T635P probably benign Het
Kif17 C T 4: 138,008,688 (GRCm39) P382S probably damaging Het
Kmt5b T C 19: 3,865,330 (GRCm39) V775A probably benign Het
Mapk8ip2 T A 15: 89,343,241 (GRCm39) F661Y probably damaging Het
Mapkap1 A G 2: 34,423,859 (GRCm39) E111G possibly damaging Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Mid2 T A X: 139,578,981 (GRCm39) Y61N probably damaging Het
Mief1 T A 15: 80,132,080 (GRCm39) Y50* probably null Het
Mios T C 6: 8,235,429 (GRCm39) M859T probably benign Het
Muc5ac G T 7: 141,352,619 (GRCm39) C702F possibly damaging Het
Nkiras1 T C 14: 18,276,935 (GRCm38) probably benign Het
Or11i1 A C 3: 106,729,608 (GRCm39) I89R possibly damaging Het
Or11i1 T A 3: 106,729,624 (GRCm39) M84L possibly damaging Het
Or56a3b T G 7: 104,771,520 (GRCm39) H285Q probably null Het
Or5ae2 T A 7: 84,506,509 (GRCm39) C311S probably benign Het
Pcsk5 C T 19: 17,410,963 (GRCm39) V1810M probably benign Het
Pex1 T C 5: 3,680,270 (GRCm39) V964A probably damaging Het
Pgm2l1 A T 7: 99,916,794 (GRCm39) M471L probably benign Het
Pkd1l2 T C 8: 117,738,314 (GRCm39) T2182A probably damaging Het
Plscr1l1 G A 9: 92,233,084 (GRCm39) C69Y probably damaging Het
Polr1b T A 2: 128,951,257 (GRCm39) I290K probably benign Het
Prkg1 T A 19: 31,563,045 (GRCm39) M119L probably damaging Het
Rbl1 A G 2: 157,019,275 (GRCm39) V490A probably benign Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Slc10a6 T A 5: 103,776,848 (GRCm39) Y84F probably benign Het
Slc25a23 T C 17: 57,366,597 (GRCm39) D26G probably damaging Het
Slc41a2 T C 10: 83,152,320 (GRCm39) K52E probably damaging Het
Slc4a5 T C 6: 83,247,951 (GRCm39) F501L probably benign Het
Slfn5 T A 11: 82,847,226 (GRCm39) M37K probably benign Het
Sptbn1 A C 11: 30,067,759 (GRCm39) F1818L probably benign Het
Taf3 T C 2: 9,956,770 (GRCm39) T466A probably damaging Het
Thbs2 C T 17: 14,891,750 (GRCm39) G929D probably damaging Het
Tmc3 A T 7: 83,271,746 (GRCm39) D995V probably damaging Het
Tmem262 T C 19: 6,130,452 (GRCm39) F59L possibly damaging Het
Triobp A G 15: 78,875,228 (GRCm39) D137G probably damaging Het
Tspear T C 10: 77,702,199 (GRCm39) F211L possibly damaging Het
Ttn A T 2: 76,728,670 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,550 (GRCm39) M206L probably benign Het
Ush1g A T 11: 115,209,466 (GRCm39) S243T probably damaging Het
Usp19 A T 9: 108,370,433 (GRCm39) T86S possibly damaging Het
Wdhd1 A G 14: 47,506,149 (GRCm39) V255A probably benign Het
Wdr11 G A 7: 129,220,394 (GRCm39) W594* probably null Het
Wnk3 T A X: 149,993,933 (GRCm39) Y331* probably null Het
Zfp429 A T 13: 67,538,523 (GRCm39) I307K probably benign 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
R4853:Zkscan14 UTSW 5 145,132,001 (GRCm39) missense probably benign 0.05
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'- TCTGAACAGGCTGGAAACATG -3'
(R):5'- AAGGTTTCCATGTGAAATGCC -3'

Sequencing Primer
(F):5'- GGCTGGAAACATGAACGATCTCC -3'
(R):5'- TGTGAAATGCCATTCAGTGAAGCC -3'
Posted On 2015-12-29