Incidental Mutation 'R0310:Zbtb20'
ID 25261
Institutional Source Beutler Lab
Gene Symbol Zbtb20
Ensembl Gene ENSMUSG00000022708
Gene Name zinc finger and BTB domain containing 20
Synonyms D16Wsu73e, Zfp288, HOF, 7330412A13Rik, 1300017A20Rik, A930017C21Rik
MMRRC Submission 038520-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0310 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 42728008-43462981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43430109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 207 (S207P)
Ref Sequence ENSEMBL: ENSMUSP00000110343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079441] [ENSMUST00000114690] [ENSMUST00000114691] [ENSMUST00000114694] [ENSMUST00000114695] [ENSMUST00000146708] [ENSMUST00000156981] [ENSMUST00000148775] [ENSMUST00000156367]
AlphaFold Q8K0L9
Predicted Effect probably damaging
Transcript: ENSMUST00000079441
AA Change: S207P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078410
Gene: ENSMUSG00000022708
AA Change: S207P

DomainStartEndE-ValueType
BTB 104 197 2.04e-21 SMART
low complexity region 403 423 N/A INTRINSIC
ZnF_C2H2 578 600 6.88e-4 SMART
ZnF_C2H2 606 628 4.17e-3 SMART
ZnF_C2H2 634 656 7.6e-6 SMART
ZnF_C2H2 662 684 5.06e-2 SMART
low complexity region 689 708 N/A INTRINSIC
ZnF_C2H2 715 737 7.9e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114690
AA Change: S134P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110338
Gene: ENSMUSG00000022708
AA Change: S134P

DomainStartEndE-ValueType
BTB 31 124 2.04e-21 SMART
low complexity region 330 350 N/A INTRINSIC
ZnF_C2H2 505 527 6.88e-4 SMART
ZnF_C2H2 533 555 4.17e-3 SMART
ZnF_C2H2 561 583 7.6e-6 SMART
ZnF_C2H2 589 611 5.06e-2 SMART
low complexity region 616 635 N/A INTRINSIC
ZnF_C2H2 642 664 7.9e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114691
AA Change: S134P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110339
Gene: ENSMUSG00000022708
AA Change: S134P

DomainStartEndE-ValueType
BTB 31 124 2.04e-21 SMART
low complexity region 330 350 N/A INTRINSIC
ZnF_C2H2 505 527 6.88e-4 SMART
ZnF_C2H2 533 555 4.17e-3 SMART
ZnF_C2H2 561 583 7.6e-6 SMART
ZnF_C2H2 589 611 5.06e-2 SMART
low complexity region 616 635 N/A INTRINSIC
ZnF_C2H2 642 664 7.9e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114694
AA Change: S207P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110342
Gene: ENSMUSG00000022708
AA Change: S207P

DomainStartEndE-ValueType
BTB 104 197 2.04e-21 SMART
low complexity region 403 423 N/A INTRINSIC
ZnF_C2H2 578 600 6.88e-4 SMART
ZnF_C2H2 606 628 4.17e-3 SMART
ZnF_C2H2 634 656 7.6e-6 SMART
ZnF_C2H2 662 684 5.06e-2 SMART
low complexity region 689 708 N/A INTRINSIC
ZnF_C2H2 715 737 7.9e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114695
AA Change: S207P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110343
Gene: ENSMUSG00000022708
AA Change: S207P

DomainStartEndE-ValueType
BTB 104 197 2.04e-21 SMART
low complexity region 403 423 N/A INTRINSIC
ZnF_C2H2 578 600 6.88e-4 SMART
ZnF_C2H2 606 628 4.17e-3 SMART
ZnF_C2H2 634 656 7.6e-6 SMART
ZnF_C2H2 662 684 5.06e-2 SMART
low complexity region 689 708 N/A INTRINSIC
ZnF_C2H2 715 737 7.9e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146708
SMART Domains Protein: ENSMUSP00000125233
Gene: ENSMUSG00000022708

DomainStartEndE-ValueType
Pfam:BTB 21 74 3.7e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000156981
AA Change: S134P

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124189
Gene: ENSMUSG00000022708
AA Change: S134P

DomainStartEndE-ValueType
BTB 31 124 2.04e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148775
SMART Domains Protein: ENSMUSP00000125016
Gene: ENSMUSG00000022708

DomainStartEndE-ValueType
Pfam:BTB 21 60 9.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156367
SMART Domains Protein: ENSMUSP00000124126
Gene: ENSMUSG00000022708

DomainStartEndE-ValueType
Pfam:BTB 94 131 1.1e-11 PFAM
Meta Mutation Damage Score 0.1476 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 93.3%
  • 20x: 82.5%
Validation Efficiency 99% (113/114)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation, disrupted homeostasis, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A C 9: 53,336,971 (GRCm39) T92P probably damaging Het
Abca13 T C 11: 9,243,810 (GRCm39) V1891A probably benign Het
Abcc1 T A 16: 14,228,791 (GRCm39) I346N probably damaging Het
Afdn G T 17: 14,105,770 (GRCm39) probably null Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Akap13 A G 7: 75,264,678 (GRCm39) D507G probably damaging Het
Akap8 A T 17: 32,535,234 (GRCm39) M260K possibly damaging Het
Akr1b8 T C 6: 34,342,194 (GRCm39) V265A probably benign Het
Alpk3 C G 7: 80,728,358 (GRCm39) P496R possibly damaging Het
Ankrd13b A G 11: 77,363,571 (GRCm39) V249A possibly damaging Het
Arid4a T C 12: 71,122,604 (GRCm39) V995A probably benign Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atad2 G A 15: 57,977,653 (GRCm39) A499V probably damaging Het
Barhl2 G T 5: 106,605,253 (GRCm39) A152E possibly damaging Het
Bbs12 T A 3: 37,375,194 (GRCm39) D547E probably damaging Het
Btaf1 A G 19: 36,981,934 (GRCm39) M1655V probably damaging Het
Ccdc50 T A 16: 27,225,408 (GRCm39) H40Q probably damaging Het
Ccr9 A T 9: 123,603,617 (GRCm39) probably benign Het
Cdh15 A G 8: 123,592,175 (GRCm39) D654G probably damaging Het
Cebpz T C 17: 79,233,553 (GRCm39) D758G probably damaging Het
Cgn C T 3: 94,672,960 (GRCm39) R906K possibly damaging Het
Chil3 T A 3: 106,067,839 (GRCm39) M109L possibly damaging Het
Cntnap4 A T 8: 113,569,148 (GRCm39) probably null Het
Cyp4f18 C T 8: 72,754,856 (GRCm39) probably benign Het
Daam2 A G 17: 49,770,952 (GRCm39) probably null Het
Ddost T A 4: 138,037,922 (GRCm39) H220Q probably benign Het
Dennd2a C T 6: 39,441,135 (GRCm39) probably benign Het
Depdc1b G A 13: 108,510,375 (GRCm39) V296I possibly damaging Het
Dnaaf4 A T 9: 72,879,618 (GRCm39) D386V probably damaging Het
Dnah5 A T 15: 28,299,256 (GRCm39) R1539S probably benign Het
Dusp22 T C 13: 30,889,641 (GRCm39) I74T probably damaging Het
Epc1 A G 18: 6,440,202 (GRCm39) probably benign Het
Epha7 A G 4: 28,961,301 (GRCm39) I845V probably benign Het
Fanci C T 7: 79,057,165 (GRCm39) probably benign Het
Fbn1 T A 2: 125,205,564 (GRCm39) E1104V probably damaging Het
Fbxo8 T A 8: 57,043,132 (GRCm39) F205L probably damaging Het
Fcgbpl1 G T 7: 27,841,699 (GRCm39) V545L probably benign Het
Fetub T C 16: 22,748,506 (GRCm39) probably benign Het
Frs3 T C 17: 48,014,747 (GRCm39) V480A probably benign Het
Gne C A 4: 44,060,157 (GRCm39) E79* probably null Het
Hrc T A 7: 44,985,921 (GRCm39) H357Q probably benign Het
Idh1 T C 1: 65,201,079 (GRCm39) M291V probably damaging Het
Il22b T A 10: 118,129,090 (GRCm39) H133L probably benign Het
Ino80b T C 6: 83,101,072 (GRCm39) E165G probably damaging Het
Inppl1 A T 7: 101,477,706 (GRCm39) probably benign Het
Ints15 G T 5: 143,293,643 (GRCm39) T278K probably benign Het
Ip6k2 T C 9: 108,676,432 (GRCm39) probably benign Het
Itga11 A T 9: 62,667,628 (GRCm39) I654F probably damaging Het
Jag2 G T 12: 112,876,997 (GRCm39) probably benign Het
Katna1 G T 10: 7,619,513 (GRCm39) probably benign Het
Kcnh4 G T 11: 100,636,995 (GRCm39) S707Y probably benign Het
Kcnn2 T G 18: 45,693,585 (GRCm39) L387R probably damaging Het
Khnyn A G 14: 56,125,425 (GRCm39) T503A probably damaging Het
Lama5 G T 2: 179,823,359 (GRCm39) probably benign Het
Lmbr1l A T 15: 98,806,654 (GRCm39) probably benign Het
Mast4 A T 13: 102,890,669 (GRCm39) S870T possibly damaging Het
Med1 A G 11: 98,058,400 (GRCm39) Y266H probably benign Het
Med13 A T 11: 86,236,829 (GRCm39) N109K probably benign Het
Mgam T C 6: 40,737,969 (GRCm39) probably benign Het
Mmp8 A G 9: 7,561,455 (GRCm39) Q153R probably benign Het
Mpeg1 C A 19: 12,439,055 (GRCm39) T171N probably benign Het
Mtus2 T C 5: 148,043,829 (GRCm39) S806P probably benign Het
Naip2 T A 13: 100,285,350 (GRCm39) E1226V probably damaging Het
Naip6 A G 13: 100,444,721 (GRCm39) F246L possibly damaging Het
Nav3 T C 10: 109,602,989 (GRCm39) I1187V possibly damaging Het
Nbeal1 T C 1: 60,344,529 (GRCm39) probably benign Het
Nbeal2 C A 9: 110,467,231 (GRCm39) V653L probably damaging Het
Ndufa9 G T 6: 126,804,495 (GRCm39) probably benign Het
Nlrp5 G T 7: 23,129,582 (GRCm39) C883F probably damaging Het
Nr0b2 C A 4: 133,283,303 (GRCm39) probably null Het
Or1m1 T A 9: 18,666,629 (GRCm39) M101L possibly damaging Het
Or6c209 T A 10: 129,483,600 (GRCm39) V201E probably damaging Het
Or6c69c G A 10: 129,910,692 (GRCm39) V138I probably benign Het
Or8b101 T A 9: 38,020,782 (GRCm39) S267T possibly damaging Het
Pkhd1 A T 1: 20,620,046 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,386,134 (GRCm39) probably benign Het
Ppm1l A G 3: 69,456,794 (GRCm39) K237R probably benign Het
Ppp1r18 T C 17: 36,184,603 (GRCm39) probably benign Het
Ptpn3 A T 4: 57,204,958 (GRCm39) D734E probably benign Het
Pxdn T C 12: 30,065,528 (GRCm39) C1283R probably damaging Het
Rbm12 A G 2: 155,937,644 (GRCm39) probably benign Het
Rttn A T 18: 89,027,584 (GRCm39) probably benign Het
Sgsm1 G T 5: 113,411,571 (GRCm39) H431Q probably benign Het
Siah3 A G 14: 75,763,367 (GRCm39) N206S possibly damaging Het
Slc22a15 G T 3: 101,767,827 (GRCm39) D521E probably benign Het
Sprr2k A T 3: 92,340,770 (GRCm39) probably benign Het
Stab2 G A 10: 86,803,477 (GRCm39) probably benign Het
Sval3 T A 6: 41,945,120 (GRCm39) L16Q probably damaging Het
Sycp2 C G 2: 178,023,648 (GRCm39) S456T probably benign Het
Tk1 T C 11: 117,707,921 (GRCm39) probably benign Het
Tlk2 C A 11: 105,145,799 (GRCm39) A335E probably benign Het
Tmtc1 T C 6: 148,151,079 (GRCm39) K659E probably benign Het
Tnk2 C T 16: 32,499,408 (GRCm39) P907L probably benign Het
Trim14 C A 4: 46,522,043 (GRCm39) K211N probably damaging Het
Trim15 A C 17: 37,177,878 (GRCm39) L39R probably damaging Het
Tspan15 T A 10: 62,023,872 (GRCm39) T269S probably benign Het
Ttc7 T A 17: 87,669,292 (GRCm39) D646E probably benign Het
Ttll6 A T 11: 96,038,382 (GRCm39) Q410L probably benign Het
Unc79 A G 12: 103,027,666 (GRCm39) Q419R probably damaging Het
Vcam1 A T 3: 115,908,065 (GRCm39) Y666N possibly damaging Het
Vmn1r10 A T 6: 57,090,486 (GRCm39) Y26F probably damaging Het
Vmn1r80 A G 7: 11,927,775 (GRCm39) N295S probably benign Het
Vmn2r114 A T 17: 23,509,917 (GRCm39) H854Q probably benign Het
Vmn2r2 A T 3: 64,042,039 (GRCm39) D225E probably damaging Het
Vmn2r4 A T 3: 64,296,855 (GRCm39) Y643* probably null Het
Vmn2r52 T A 7: 9,893,393 (GRCm39) Y582F probably damaging Het
Vmn2r60 G T 7: 41,844,564 (GRCm39) L642F possibly damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Zkscan7 G T 9: 122,717,958 (GRCm39) E118* probably null Het
Other mutations in Zbtb20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Zbtb20 APN 16 43,431,024 (GRCm39) missense possibly damaging 0.85
IGL02170:Zbtb20 APN 16 43,430,025 (GRCm39) missense possibly damaging 0.84
IGL02292:Zbtb20 APN 16 43,431,011 (GRCm39) nonsense probably null
IGL02733:Zbtb20 APN 16 43,430,296 (GRCm39) missense possibly damaging 0.48
IGL03277:Zbtb20 APN 16 43,438,800 (GRCm39) missense possibly damaging 0.95
siberian UTSW 16 43,431,039 (GRCm39) missense probably damaging 0.96
Tiger UTSW 16 43,438,761 (GRCm39) missense probably damaging 0.98
Towering UTSW 16 43,431,230 (GRCm39) nonsense probably null
R1593:Zbtb20 UTSW 16 43,429,786 (GRCm39) missense probably damaging 0.99
R1996:Zbtb20 UTSW 16 43,430,443 (GRCm39) missense probably damaging 0.98
R2018:Zbtb20 UTSW 16 43,398,015 (GRCm39) missense possibly damaging 0.86
R2050:Zbtb20 UTSW 16 43,429,975 (GRCm39) splice site probably null
R2097:Zbtb20 UTSW 16 43,429,882 (GRCm39) missense probably null 1.00
R4006:Zbtb20 UTSW 16 43,429,762 (GRCm39) missense probably damaging 1.00
R4708:Zbtb20 UTSW 16 43,431,039 (GRCm39) missense probably damaging 0.96
R4710:Zbtb20 UTSW 16 43,431,039 (GRCm39) missense probably damaging 0.96
R4835:Zbtb20 UTSW 16 43,438,761 (GRCm39) missense probably damaging 0.98
R4962:Zbtb20 UTSW 16 43,439,055 (GRCm39) missense probably damaging 0.99
R5531:Zbtb20 UTSW 16 43,431,230 (GRCm39) nonsense probably null
R7452:Zbtb20 UTSW 16 43,431,039 (GRCm39) missense probably damaging 0.96
R7523:Zbtb20 UTSW 16 43,430,875 (GRCm39) missense probably benign 0.01
R8175:Zbtb20 UTSW 16 43,397,443 (GRCm39) intron probably benign
R8306:Zbtb20 UTSW 16 43,439,100 (GRCm39) missense probably damaging 0.99
R8811:Zbtb20 UTSW 16 43,430,857 (GRCm39) missense probably benign
R8922:Zbtb20 UTSW 16 43,397,968 (GRCm39) missense probably damaging 0.99
R9164:Zbtb20 UTSW 16 43,430,764 (GRCm39) missense probably benign 0.02
R9687:Zbtb20 UTSW 16 43,430,160 (GRCm39) missense possibly damaging 0.83
Z1176:Zbtb20 UTSW 16 43,430,893 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- GTGTCCGTACAATCGGTGCAAAAG -3'
(R):5'- CGCTCATGAATGCGTGTGATCCAG -3'

Sequencing Primer
(F):5'- TCGGTGCAAAAGCTCATTGAC -3'
(R):5'- AATGCGTGTGATCCAGCTAGG -3'
Posted On 2013-04-16