Incidental Mutation 'R7441:Zfp426'
ID 576956
Institutional Source Beutler Lab
Gene Symbol Zfp426
Ensembl Gene ENSMUSG00000059475
Gene Name zinc finger protein 426
Synonyms Zfp68-rs1, KRAB1, Zfo61, 2900057C04Rik
MMRRC Submission 045517-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R7441 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 20379845-20404042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20382147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 280 (E280G)
Ref Sequence ENSEMBL: ENSMUSP00000127045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080386] [ENSMUST00000115562] [ENSMUST00000163348] [ENSMUST00000163427] [ENSMUST00000164799] [ENSMUST00000164825] [ENSMUST00000169558] [ENSMUST00000166005] [ENSMUST00000167457] [ENSMUST00000168095] [ENSMUST00000169269]
AlphaFold Q8R1D1
Predicted Effect probably damaging
Transcript: ENSMUST00000080386
AA Change: E266G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079250
Gene: ENSMUSG00000059475
AA Change: E266G

DomainStartEndE-ValueType
KRAB 39 99 5.56e-31 SMART
ZnF_C2H2 219 241 2.12e-4 SMART
ZnF_C2H2 274 296 1.69e-3 SMART
ZnF_C2H2 302 324 8.81e-2 SMART
ZnF_C2H2 330 352 5.59e-4 SMART
ZnF_C2H2 358 380 3.16e-3 SMART
ZnF_C2H2 386 408 1.43e-1 SMART
ZnF_C2H2 414 436 1.79e-2 SMART
ZnF_C2H2 442 464 1.22e-4 SMART
ZnF_C2H2 470 492 1.38e-3 SMART
ZnF_C2H2 498 520 3.58e-2 SMART
ZnF_C2H2 528 550 3.44e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115562
AA Change: E266G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111224
Gene: ENSMUSG00000059475
AA Change: E266G

DomainStartEndE-ValueType
KRAB 39 99 5.56e-31 SMART
ZnF_C2H2 219 241 2.12e-4 SMART
ZnF_C2H2 274 296 1.69e-3 SMART
ZnF_C2H2 302 324 8.81e-2 SMART
ZnF_C2H2 330 352 5.59e-4 SMART
ZnF_C2H2 358 380 3.16e-3 SMART
ZnF_C2H2 386 408 1.43e-1 SMART
ZnF_C2H2 414 436 1.79e-2 SMART
ZnF_C2H2 442 464 1.22e-4 SMART
ZnF_C2H2 470 492 1.38e-3 SMART
ZnF_C2H2 498 520 3.58e-2 SMART
ZnF_C2H2 528 550 3.44e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163348
AA Change: E265G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126446
Gene: ENSMUSG00000059475
AA Change: E265G

DomainStartEndE-ValueType
KRAB 39 99 5.56e-31 SMART
ZnF_C2H2 218 240 2.12e-4 SMART
ZnF_C2H2 273 295 1.69e-3 SMART
ZnF_C2H2 301 323 8.81e-2 SMART
ZnF_C2H2 329 351 5.59e-4 SMART
ZnF_C2H2 357 379 3.16e-3 SMART
ZnF_C2H2 385 407 1.43e-1 SMART
ZnF_C2H2 413 435 1.79e-2 SMART
ZnF_C2H2 441 463 1.22e-4 SMART
ZnF_C2H2 469 491 1.38e-3 SMART
ZnF_C2H2 497 519 3.58e-2 SMART
ZnF_C2H2 527 549 3.44e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163427
Predicted Effect probably benign
Transcript: ENSMUST00000164799
SMART Domains Protein: ENSMUSP00000130120
Gene: ENSMUSG00000059475

DomainStartEndE-ValueType
KRAB 53 93 1.2e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164825
SMART Domains Protein: ENSMUSP00000127914
Gene: ENSMUSG00000059475

DomainStartEndE-ValueType
KRAB 39 99 5.56e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169558
AA Change: E280G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127045
Gene: ENSMUSG00000059475
AA Change: E280G

DomainStartEndE-ValueType
KRAB 53 113 5.56e-31 SMART
ZnF_C2H2 233 255 2.12e-4 SMART
ZnF_C2H2 288 310 1.69e-3 SMART
ZnF_C2H2 316 338 8.81e-2 SMART
ZnF_C2H2 344 366 5.59e-4 SMART
ZnF_C2H2 372 394 3.16e-3 SMART
ZnF_C2H2 400 422 1.43e-1 SMART
ZnF_C2H2 428 450 1.79e-2 SMART
ZnF_C2H2 456 478 1.22e-4 SMART
ZnF_C2H2 484 506 1.38e-3 SMART
ZnF_C2H2 512 534 3.58e-2 SMART
ZnF_C2H2 542 564 3.44e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166005
AA Change: E266G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129727
Gene: ENSMUSG00000059475
AA Change: E266G

DomainStartEndE-ValueType
KRAB 39 99 5.56e-31 SMART
ZnF_C2H2 219 241 2.12e-4 SMART
ZnF_C2H2 274 296 1.69e-3 SMART
ZnF_C2H2 302 324 8.81e-2 SMART
ZnF_C2H2 330 352 5.59e-4 SMART
ZnF_C2H2 358 380 3.16e-3 SMART
ZnF_C2H2 386 408 1.43e-1 SMART
ZnF_C2H2 414 436 1.79e-2 SMART
ZnF_C2H2 442 464 1.22e-4 SMART
ZnF_C2H2 470 492 1.38e-3 SMART
ZnF_C2H2 498 520 3.58e-2 SMART
ZnF_C2H2 528 550 3.44e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167457
AA Change: E199G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130945
Gene: ENSMUSG00000059475
AA Change: E199G

DomainStartEndE-ValueType
KRAB 1 32 1.46e0 SMART
ZnF_C2H2 152 174 2.12e-4 SMART
ZnF_C2H2 207 229 1.69e-3 SMART
ZnF_C2H2 235 257 8.81e-2 SMART
ZnF_C2H2 263 285 5.59e-4 SMART
ZnF_C2H2 291 313 3.16e-3 SMART
ZnF_C2H2 319 341 1.43e-1 SMART
ZnF_C2H2 347 369 1.79e-2 SMART
ZnF_C2H2 375 397 1.22e-4 SMART
ZnF_C2H2 403 425 1.38e-3 SMART
ZnF_C2H2 431 453 3.58e-2 SMART
ZnF_C2H2 461 483 3.44e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168095
SMART Domains Protein: ENSMUSP00000130309
Gene: ENSMUSG00000059475

DomainStartEndE-ValueType
KRAB 39 83 1.37e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169269
SMART Domains Protein: ENSMUSP00000128843
Gene: ENSMUSG00000059475

DomainStartEndE-ValueType
KRAB 39 69 7.16e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kaposi's sarcoma-associated herpesvirus (KSHV) can be reactivated from latency by the viral protein RTA. The protein encoded by this gene is a zinc finger transcriptional repressor that interacts with RTA to modulate RTA-mediated reactivation of KSHV. While the encoded protein can repress KSHV reactivation, RTA can induce degradation of this protein through the ubiquitin-proteasome pathway to overcome the repression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,845 (GRCm39) S278A possibly damaging Het
Adamts20 T C 15: 94,251,554 (GRCm39) D411G probably damaging Het
Adgrl3 A G 5: 81,871,987 (GRCm39) I894V possibly damaging Het
Adprhl1 C T 8: 13,273,069 (GRCm39) V1230I probably benign Het
Agpat1 T A 17: 34,829,883 (GRCm39) Y77N probably damaging Het
Anpep A G 7: 79,477,392 (GRCm39) V725A possibly damaging Het
Apc T A 18: 34,445,126 (GRCm39) I674K probably damaging Het
Arhgef2 A G 3: 88,551,262 (GRCm39) R808G probably damaging Het
Asap1 A G 15: 64,002,105 (GRCm39) V402A probably damaging Het
Aspg T C 12: 112,091,255 (GRCm39) V479A possibly damaging Het
B3galnt2 G A 13: 14,169,070 (GRCm39) V368M probably benign Het
Bahcc1 T C 11: 120,177,132 (GRCm39) S2007P probably damaging Het
Cyfip2 A T 11: 46,087,254 (GRCm39) I1212N possibly damaging Het
Dnajc16 A T 4: 141,491,124 (GRCm39) D675E probably damaging Het
Dram2 T C 3: 106,462,503 (GRCm39) F4L probably damaging Het
Dsp A G 13: 38,379,425 (GRCm39) T2057A probably benign Het
Dync1h1 T G 12: 110,602,887 (GRCm39) L2176R probably damaging Het
Efhb A T 17: 53,708,549 (GRCm39) I707N possibly damaging Het
Eif2ak4 A G 2: 118,302,377 (GRCm39) T1555A probably benign Het
Erc1 G A 6: 119,801,912 (GRCm39) T35I possibly damaging Het
Esr2 C A 12: 76,188,168 (GRCm39) M363I probably benign Het
Etl4 A T 2: 20,749,000 (GRCm39) N446I possibly damaging Het
Evpl T A 11: 116,113,782 (GRCm39) K1303* probably null Het
Fam135b A T 15: 71,335,529 (GRCm39) V555E probably damaging Het
Fam186b A G 15: 99,177,970 (GRCm39) L452P probably benign Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Gcc2 A G 10: 58,092,723 (GRCm39) T48A probably benign Het
Gm6619 T G 6: 131,467,354 (GRCm39) I73S possibly damaging Het
Gm8267 T A 14: 44,960,397 (GRCm39) D116V probably damaging Het
Gtf3c3 G A 1: 54,459,607 (GRCm39) T385M probably benign Het
Iqgap2 C A 13: 95,764,584 (GRCm39) M1553I probably benign Het
Kcnk1 G T 8: 126,722,307 (GRCm39) G37C probably damaging Het
Kifc3 T C 8: 95,864,615 (GRCm39) M32V probably benign Het
Krt81 C A 15: 101,359,251 (GRCm39) K222N possibly damaging Het
Lrrc63 A G 14: 75,363,697 (GRCm39) S145P possibly damaging Het
Mybbp1a T A 11: 72,342,101 (GRCm39) V1279E probably benign Het
Niban3 A G 8: 72,052,808 (GRCm39) D94G probably benign Het
Or11g26 A T 14: 50,752,853 (GRCm39) Y64F probably damaging Het
Or8u9 T A 2: 86,001,354 (GRCm39) D269V probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pramel12 A G 4: 143,145,410 (GRCm39) Y293C probably benign Het
Ptpn18 T C 1: 34,512,416 (GRCm39) V407A probably benign Het
Ptpn9 T A 9: 56,934,717 (GRCm39) Y160* probably null Het
Ptprj T C 2: 90,280,163 (GRCm39) K1045R possibly damaging Het
Rundc3a G T 11: 102,290,872 (GRCm39) probably null Het
Scn11a C T 9: 119,587,692 (GRCm39) V1351I probably benign Het
Slc26a9 A G 1: 131,690,556 (GRCm39) Y520C probably damaging Het
Spata20 G A 11: 94,374,867 (GRCm39) A245V probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Swt1 A T 1: 151,286,815 (GRCm39) F226I probably benign Het
Taar7f A G 10: 23,925,885 (GRCm39) T160A possibly damaging Het
Timd5 G A 11: 46,419,382 (GRCm39) W66* probably null Het
Upf2 A T 2: 6,023,743 (GRCm39) I698F unknown Het
Vmn2r84 T C 10: 130,227,982 (GRCm39) T85A possibly damaging Het
Zfp810 C A 9: 22,190,568 (GRCm39) E78* probably null Het
Zfp937 GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT G 2: 150,080,630 (GRCm39) probably null Het
Other mutations in Zfp426
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01647:Zfp426 APN 9 20,389,453 (GRCm39) start codon destroyed possibly damaging 0.93
IGL02499:Zfp426 APN 9 20,384,414 (GRCm39) splice site probably benign
R0157:Zfp426 UTSW 9 20,382,432 (GRCm39) missense probably benign 0.00
R0356:Zfp426 UTSW 9 20,382,541 (GRCm39) missense probably benign 0.15
R0456:Zfp426 UTSW 9 20,381,593 (GRCm39) missense probably damaging 1.00
R0504:Zfp426 UTSW 9 20,381,327 (GRCm39) missense probably damaging 0.96
R2352:Zfp426 UTSW 9 20,381,401 (GRCm39) missense probably benign 0.08
R2507:Zfp426 UTSW 9 20,381,727 (GRCm39) missense probably benign 0.00
R2509:Zfp426 UTSW 9 20,381,977 (GRCm39) missense possibly damaging 0.68
R3771:Zfp426 UTSW 9 20,384,413 (GRCm39) splice site probably null
R3772:Zfp426 UTSW 9 20,384,413 (GRCm39) splice site probably null
R3773:Zfp426 UTSW 9 20,384,413 (GRCm39) splice site probably null
R3864:Zfp426 UTSW 9 20,381,382 (GRCm39) missense possibly damaging 0.88
R4649:Zfp426 UTSW 9 20,381,923 (GRCm39) missense possibly damaging 0.66
R4798:Zfp426 UTSW 9 20,382,310 (GRCm39) missense probably benign 0.17
R4863:Zfp426 UTSW 9 20,381,334 (GRCm39) missense probably damaging 1.00
R4894:Zfp426 UTSW 9 20,386,369 (GRCm39) intron probably benign
R5421:Zfp426 UTSW 9 20,382,015 (GRCm39) missense probably damaging 0.99
R6084:Zfp426 UTSW 9 20,381,923 (GRCm39) missense possibly damaging 0.66
R6610:Zfp426 UTSW 9 20,384,389 (GRCm39) missense probably damaging 1.00
R7239:Zfp426 UTSW 9 20,381,887 (GRCm39) missense probably benign 0.00
R7646:Zfp426 UTSW 9 20,381,320 (GRCm39) missense probably damaging 0.98
R7827:Zfp426 UTSW 9 20,381,446 (GRCm39) missense probably damaging 1.00
R8987:Zfp426 UTSW 9 20,387,744 (GRCm39) missense probably damaging 1.00
R8993:Zfp426 UTSW 9 20,386,296 (GRCm39) missense probably damaging 1.00
R9043:Zfp426 UTSW 9 20,386,308 (GRCm39) missense probably damaging 1.00
R9450:Zfp426 UTSW 9 20,381,577 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GTTGGATCAGTCGAGAGGAC -3'
(R):5'- TGAAGAAACCGGCATGACC -3'

Sequencing Primer
(F):5'- CCAGTGTGAGACCTTACATGGATAC -3'
(R):5'- CGGCATGACCCCAGTTAAAGAG -3'
Posted On 2019-10-07