Incidental Mutation 'R5457:Zkscan14'
ID 432808
Institutional Source Beutler Lab
Gene Symbol Zkscan14
Ensembl Gene ENSMUSG00000029627
Gene Name zinc finger with KRAB and SCAN domains 14
Synonyms Zfp99, 2810437E14Rik, 2310046C23Rik
MMRRC Submission 043020-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.330) question?
Stock # R5457 (G1)
Quality Score 187
Status Not validated
Chromosome 5
Chromosomal Location 145131756-145138678 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 145138169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 106 (D106G)
Ref Sequence ENSEMBL: ENSMUSP00000143630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031601] [ENSMUST00000031632] [ENSMUST00000085671] [ENSMUST00000161896] [ENSMUST00000162220] [ENSMUST00000198959]
AlphaFold Q9Z1D9
Predicted Effect probably benign
Transcript: ENSMUST00000031601
SMART Domains Protein: ENSMUSP00000031601
Gene: ENSMUSG00000055991

DomainStartEndE-ValueType
SCAN 46 155 2.18e-69 SMART
ZnF_C2H2 268 290 3.58e-2 SMART
ZnF_C2H2 296 318 9.73e-4 SMART
ZnF_C2H2 324 346 1.45e-2 SMART
ZnF_C2H2 352 374 1.28e-3 SMART
ZnF_C2H2 467 489 1.82e-3 SMART
ZnF_C2H2 495 517 3.63e-3 SMART
ZnF_C2H2 523 545 7.78e-3 SMART
ZnF_C2H2 551 573 9.73e-4 SMART
ZnF_C2H2 579 601 1.08e-1 SMART
ZnF_C2H2 635 657 1.12e-3 SMART
ZnF_C2H2 691 713 5.14e-3 SMART
ZnF_C2H2 719 741 2.4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000031632
AA Change: D106G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031632
Gene: ENSMUSG00000029627
AA Change: D106G

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: ENSMUST00000085671
SMART Domains Protein: ENSMUSP00000082814
Gene: ENSMUSG00000055991

DomainStartEndE-ValueType
SCAN 46 155 2.18e-69 SMART
KRAB 216 276 5.35e-3 SMART
ZnF_C2H2 341 363 3.58e-2 SMART
ZnF_C2H2 369 391 9.73e-4 SMART
ZnF_C2H2 397 419 1.45e-2 SMART
ZnF_C2H2 425 447 1.28e-3 SMART
ZnF_C2H2 540 562 1.82e-3 SMART
ZnF_C2H2 568 590 3.63e-3 SMART
ZnF_C2H2 596 618 7.78e-3 SMART
ZnF_C2H2 624 646 9.73e-4 SMART
ZnF_C2H2 652 674 1.08e-1 SMART
ZnF_C2H2 708 730 1.12e-3 SMART
ZnF_C2H2 764 786 5.14e-3 SMART
ZnF_C2H2 792 814 2.4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161896
SMART Domains Protein: ENSMUSP00000124838
Gene: ENSMUSG00000055991

DomainStartEndE-ValueType
SCAN 46 155 1.59e-62 SMART
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: ENSMUST00000198959
AA Change: D106G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143630
Gene: ENSMUSG00000029627
AA Change: D106G

DomainStartEndE-ValueType
SCAN 40 143 4.29e-59 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C A 8: 87,236,473 (GRCm39) V1114L probably benign Het
Actr5 G A 2: 158,477,918 (GRCm39) probably null Het
Adcy7 T C 8: 89,037,649 (GRCm39) L239P probably damaging Het
Afg3l1 T A 8: 124,216,707 (GRCm39) F315L possibly damaging Het
Agps A G 2: 75,684,596 (GRCm39) Y188C probably benign Het
Akt1 T C 12: 112,623,525 (GRCm39) T312A probably damaging Het
Ang2 T C 14: 51,433,292 (GRCm39) Y30C probably damaging Het
Angpt1 G A 15: 42,386,916 (GRCm39) T146I probably damaging Het
Atg16l1 T C 1: 87,702,813 (GRCm39) S288P probably damaging Het
Atp1b2 C T 11: 69,493,558 (GRCm39) G4R probably damaging Het
Best3 T C 10: 116,840,416 (GRCm39) F282S probably damaging Het
Cdkn2b A G 4: 89,225,391 (GRCm39) L98P probably damaging Het
Cenps A G 4: 149,216,094 (GRCm39) probably null Het
Clec16a G T 16: 10,363,396 (GRCm39) probably null Het
Cxcl13 A T 5: 96,104,830 (GRCm39) M1L unknown Het
Dcun1d4 A T 5: 73,688,908 (GRCm39) E149D probably damaging Het
Dlst G A 12: 85,168,914 (GRCm39) probably null Het
Dock10 C A 1: 80,501,781 (GRCm39) C1803F probably damaging Het
Dpp10 T A 1: 123,339,539 (GRCm39) K329N possibly damaging Het
Drosha T G 15: 12,926,115 (GRCm39) Y1235D probably benign Het
Eif2s3y G A Y: 1,016,057 (GRCm39) G213D probably damaging Homo
Eps8 A T 6: 137,489,175 (GRCm39) S408T probably damaging Het
Fam171a2 T C 11: 102,328,362 (GRCm39) D799G possibly damaging Het
Fcho2 T C 13: 98,926,275 (GRCm39) K103E probably damaging Het
Fcrlb T C 1: 170,739,726 (GRCm39) T59A probably damaging Het
Fgd4 T C 16: 16,279,873 (GRCm39) R395G probably benign Het
Gm14496 A T 2: 181,639,401 (GRCm39) D497V probably damaging Het
Gpt2 A C 8: 86,238,967 (GRCm39) N267H possibly damaging Het
Grb14 A T 2: 64,747,442 (GRCm39) C43S probably damaging Het
Hjurp T TN 1: 88,194,247 (GRCm39) probably null Het
Igkv8-16 A G 6: 70,363,689 (GRCm39) V111A possibly damaging Het
Klra2 T A 6: 131,198,852 (GRCm39) S230C possibly damaging Het
Lamb3 G A 1: 193,008,302 (GRCm39) R245H probably damaging Het
Lamc3 A G 2: 31,821,997 (GRCm39) E1315G probably benign Het
Lpin2 A G 17: 71,550,367 (GRCm39) T672A probably damaging Het
Mcoln3 T A 3: 145,833,877 (GRCm39) I139N probably benign Het
Mcpt8 C T 14: 56,319,793 (GRCm39) C219Y probably benign Het
Mtcl3 A C 10: 29,072,720 (GRCm39) I671L probably benign Het
Mug2 G T 6: 122,026,688 (GRCm39) G541* probably null Het
Myo7b G T 18: 32,104,503 (GRCm39) probably null Het
Or10j2 C T 1: 173,098,141 (GRCm39) S133L probably benign Het
Or10j7 A G 1: 173,011,180 (GRCm39) S274P probably damaging Het
Or5ac22 T C 16: 59,135,213 (GRCm39) I186V probably benign Het
Or5k8 A T 16: 58,644,796 (GRCm39) I92N probably damaging Het
Or7e176 A T 9: 20,171,574 (GRCm39) Y146F probably damaging Het
Pclo C T 5: 14,726,157 (GRCm39) probably benign Het
Pdk2 C T 11: 94,919,408 (GRCm39) S289N probably damaging Het
Pex19 G T 1: 171,958,245 (GRCm39) G75W probably damaging Het
Psma3 T G 12: 71,031,339 (GRCm39) S26A probably benign Het
Pth1r A T 9: 110,555,522 (GRCm39) I326N possibly damaging Het
Sbf2 T C 7: 109,912,037 (GRCm39) T1670A probably benign Het
Scn10a A G 9: 119,523,193 (GRCm39) Y67H probably damaging Het
Sec16a A T 2: 26,330,280 (GRCm39) D578E probably benign Het
Spta1 C T 1: 174,044,759 (GRCm39) A1465V probably damaging Het
Taar9 A G 10: 23,985,003 (GRCm39) F144L probably damaging Het
Tal1 T C 4: 114,925,777 (GRCm39) V282A probably benign Het
Tbrg4 C T 11: 6,570,947 (GRCm39) R175Q probably damaging Het
Tdp1 C T 12: 99,861,005 (GRCm39) Q215* probably null Het
Thsd4 A T 9: 59,887,060 (GRCm39) W921R probably damaging Het
Trrap A G 5: 144,786,787 (GRCm39) E3462G probably damaging Het
Try4 T C 6: 41,280,355 (GRCm39) S60P probably damaging Het
Ttn T C 2: 76,541,265 (GRCm39) E25580G probably damaging Het
Ttn A T 2: 76,776,299 (GRCm39) I1581N possibly damaging Het
Vmn2r50 T C 7: 9,781,873 (GRCm39) T291A probably damaging 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
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
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'- TTCTCTGAATCATCACGACTGGG -3'
(R):5'- AGTTGCGCTACCAGGAAGTG -3'

Sequencing Primer
(F):5'- TGGCATCAGATCACTTGAAGC -3'
(R):5'- AAGTGGCCGGCCCTGAG -3'
Posted On 2016-10-06