Incidental Mutation 'R0739:Zfp568'
ID 70620
Institutional Source Beutler Lab
Gene Symbol Zfp568
Ensembl Gene ENSMUSG00000074221
Gene Name zinc finger protein 568
Synonyms chato, LOC381866
MMRRC Submission 038920-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0739 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 29683380-29727707 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29722746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 564 (C564S)
Ref Sequence ENSEMBL: ENSMUSP00000118387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074322] [ENSMUST00000146074] [ENSMUST00000148442] [ENSMUST00000177931]
AlphaFold E9PYI1
Predicted Effect probably damaging
Transcript: ENSMUST00000074322
AA Change: C564S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073930
Gene: ENSMUSG00000074221
AA Change: C564S

DomainStartEndE-ValueType
KRAB 34 94 2.73e-39 SMART
KRAB 124 184 2.01e-28 SMART
ZnF_C2H2 363 385 7.78e-3 SMART
ZnF_C2H2 391 413 3.95e-4 SMART
ZnF_C2H2 419 441 3.44e-4 SMART
ZnF_C2H2 447 469 2.2e-2 SMART
ZnF_C2H2 475 497 6.67e-2 SMART
ZnF_C2H2 503 525 6.32e-3 SMART
ZnF_C2H2 531 553 4.87e-4 SMART
ZnF_C2H2 559 581 2.09e-3 SMART
ZnF_C2H2 587 609 2.95e-3 SMART
ZnF_C2H2 615 637 3.69e-4 SMART
ZnF_C2H2 643 665 1.12e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000146074
AA Change: C563S

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118823
Gene: ENSMUSG00000074221
AA Change: C563S

DomainStartEndE-ValueType
KRAB 34 94 2.73e-39 SMART
KRAB 123 183 2.01e-28 SMART
ZnF_C2H2 362 384 7.78e-3 SMART
ZnF_C2H2 390 412 3.95e-4 SMART
ZnF_C2H2 418 440 3.44e-4 SMART
ZnF_C2H2 446 468 2.2e-2 SMART
ZnF_C2H2 474 496 6.67e-2 SMART
ZnF_C2H2 502 524 6.32e-3 SMART
ZnF_C2H2 530 552 4.87e-4 SMART
ZnF_C2H2 558 580 2.09e-3 SMART
ZnF_C2H2 586 608 2.95e-3 SMART
ZnF_C2H2 614 636 3.69e-4 SMART
ZnF_C2H2 642 664 1.12e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000148442
AA Change: C564S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118387
Gene: ENSMUSG00000074221
AA Change: C564S

DomainStartEndE-ValueType
KRAB 34 94 2.73e-39 SMART
KRAB 124 184 2.01e-28 SMART
ZnF_C2H2 363 385 7.78e-3 SMART
ZnF_C2H2 391 413 3.95e-4 SMART
ZnF_C2H2 419 441 3.44e-4 SMART
ZnF_C2H2 447 469 2.2e-2 SMART
ZnF_C2H2 475 497 6.67e-2 SMART
ZnF_C2H2 503 525 6.32e-3 SMART
ZnF_C2H2 531 553 4.87e-4 SMART
ZnF_C2H2 559 581 2.09e-3 SMART
ZnF_C2H2 587 609 2.95e-3 SMART
ZnF_C2H2 615 637 3.69e-4 SMART
ZnF_C2H2 643 665 1.12e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000177931
AA Change: C563S

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137438
Gene: ENSMUSG00000074221
AA Change: C563S

DomainStartEndE-ValueType
KRAB 34 94 2.73e-39 SMART
KRAB 123 183 2.01e-28 SMART
ZnF_C2H2 362 384 7.78e-3 SMART
ZnF_C2H2 390 412 3.95e-4 SMART
ZnF_C2H2 418 440 3.44e-4 SMART
ZnF_C2H2 446 468 2.2e-2 SMART
ZnF_C2H2 474 496 6.67e-2 SMART
ZnF_C2H2 502 524 6.32e-3 SMART
ZnF_C2H2 530 552 4.87e-4 SMART
ZnF_C2H2 558 580 2.09e-3 SMART
ZnF_C2H2 586 608 2.95e-3 SMART
ZnF_C2H2 614 636 3.69e-4 SMART
ZnF_C2H2 642 664 1.12e-3 SMART
Meta Mutation Damage Score 0.4498 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
MGI Phenotype PHENOTYPE: Homozygous null mutants are embryonic lethal with growth arrest around E8.5-9.0. Mutant embryo shows shortened anterior-posterior axial extension with defects in somites and midline structures including open gut tube, cardia bifida, and failure to closeneural tube. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Other mutations in Zfp568
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Zfp568 APN 7 29,721,865 (GRCm39) missense possibly damaging 0.66
IGL00792:Zfp568 APN 7 29,714,497 (GRCm39) missense probably benign 0.00
IGL01133:Zfp568 APN 7 29,687,233 (GRCm39) critical splice donor site probably null
IGL01330:Zfp568 APN 7 29,721,702 (GRCm39) missense probably benign 0.01
IGL03157:Zfp568 APN 7 29,722,189 (GRCm39) missense probably damaging 1.00
R1051:Zfp568 UTSW 7 29,721,954 (GRCm39) nonsense probably null
R1967:Zfp568 UTSW 7 29,688,513 (GRCm39) missense probably damaging 0.99
R2038:Zfp568 UTSW 7 29,688,507 (GRCm39) missense probably null 1.00
R3874:Zfp568 UTSW 7 29,722,821 (GRCm39) missense probably damaging 1.00
R4438:Zfp568 UTSW 7 29,721,721 (GRCm39) missense probably benign
R4584:Zfp568 UTSW 7 29,697,617 (GRCm39) missense probably benign 0.04
R4667:Zfp568 UTSW 7 29,722,702 (GRCm39) missense probably damaging 1.00
R4669:Zfp568 UTSW 7 29,722,702 (GRCm39) missense probably damaging 1.00
R4773:Zfp568 UTSW 7 29,697,195 (GRCm39) missense probably damaging 1.00
R4791:Zfp568 UTSW 7 29,714,608 (GRCm39) missense probably damaging 1.00
R5250:Zfp568 UTSW 7 29,716,655 (GRCm39) missense probably benign 0.12
R5541:Zfp568 UTSW 7 29,722,301 (GRCm39) missense possibly damaging 0.81
R5956:Zfp568 UTSW 7 29,697,288 (GRCm39) missense probably damaging 1.00
R6444:Zfp568 UTSW 7 29,716,682 (GRCm39) missense probably benign 0.01
R6600:Zfp568 UTSW 7 29,721,948 (GRCm39) missense possibly damaging 0.71
R7299:Zfp568 UTSW 7 29,716,669 (GRCm39) missense probably benign 0.34
R7316:Zfp568 UTSW 7 29,721,681 (GRCm39) missense possibly damaging 0.95
R7562:Zfp568 UTSW 7 29,722,681 (GRCm39) missense probably benign 0.04
R7664:Zfp568 UTSW 7 29,721,715 (GRCm39) missense probably benign
R7672:Zfp568 UTSW 7 29,697,212 (GRCm39) missense probably damaging 0.99
R7759:Zfp568 UTSW 7 29,722,839 (GRCm39) missense possibly damaging 0.66
R7790:Zfp568 UTSW 7 29,722,150 (GRCm39) missense probably damaging 1.00
R7811:Zfp568 UTSW 7 29,697,295 (GRCm39) missense possibly damaging 0.95
R8110:Zfp568 UTSW 7 29,722,551 (GRCm39) missense probably damaging 1.00
R8194:Zfp568 UTSW 7 29,722,758 (GRCm39) missense probably damaging 1.00
R8254:Zfp568 UTSW 7 29,714,558 (GRCm39) missense probably benign 0.22
R8319:Zfp568 UTSW 7 29,697,629 (GRCm39) missense possibly damaging 0.72
R8836:Zfp568 UTSW 7 29,722,459 (GRCm39) missense probably damaging 0.98
R8902:Zfp568 UTSW 7 29,713,307 (GRCm39) missense probably benign 0.08
R8978:Zfp568 UTSW 7 29,716,683 (GRCm39) missense probably benign 0.01
R9676:Zfp568 UTSW 7 29,721,823 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- GCGCTTTGAGTGTAAGGACTGTGAC -3'
(R):5'- GATGGCAACTCATTCACTCCTCCG -3'

Sequencing Primer
(F):5'- caagtgtaaggagtgtgggaaag -3'
(R):5'- TTGGGTAAGGTGAGAGCCAC -3'
Posted On 2013-09-30