Incidental Mutation 'R7407:Zbtb24'
ID 574800
Institutional Source Beutler Lab
Gene Symbol Zbtb24
Ensembl Gene ENSMUSG00000019826
Gene Name zinc finger and BTB domain containing 24
Synonyms ZNF450
MMRRC Submission 045488-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7407 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 41326379-41341570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 41340775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 624 (Q624K)
Ref Sequence ENSEMBL: ENSMUSP00000079592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080771] [ENSMUST00000213797]
AlphaFold Q80X44
Predicted Effect possibly damaging
Transcript: ENSMUST00000080771
AA Change: Q624K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079592
Gene: ENSMUSG00000019826
AA Change: Q624K

DomainStartEndE-ValueType
BTB 37 133 5.81e-26 SMART
AT_hook 159 171 2.23e-1 SMART
low complexity region 248 260 N/A INTRINSIC
ZnF_C2H2 293 315 8.67e-1 SMART
ZnF_C2H2 321 343 4.87e-4 SMART
ZnF_C2H2 349 371 6.42e-4 SMART
ZnF_C2H2 377 399 2.99e-4 SMART
ZnF_C2H2 405 427 9.44e-2 SMART
ZnF_C2H2 433 455 3.26e-5 SMART
ZnF_C2H2 461 483 2.36e-2 SMART
ZnF_C2H2 489 511 7.9e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000213797
AA Change: Q602K

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein containing eight C2H2-type zinc fingers and a BTB domain. Expression of this gene is induced by bone morphogenetic protein-2 signaling. Mutation of the related gene in humans causes immunodeficiency-centromeric instability-facial anomalies syndrome-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a deletion in the BTB domain exhibit embryonic lethality between E4.5 and E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik A G 7: 50,249,626 (GRCm39) N220S probably damaging Het
Abcb8 T C 5: 24,605,674 (GRCm39) V186A probably benign Het
Actbl2 A T 13: 111,392,752 (GRCm39) E362D probably damaging Het
Adamts17 C A 7: 66,697,304 (GRCm39) Y28* probably null Het
Agtr1b T C 3: 20,369,895 (GRCm39) D237G possibly damaging Het
Amer2 A G 14: 60,616,291 (GRCm39) D162G probably damaging Het
Ankub1 T C 3: 57,572,624 (GRCm39) E366G probably benign Het
Ap5z1 A G 5: 142,452,330 (GRCm39) I88V probably benign Het
Ccdc186 T C 19: 56,801,817 (GRCm39) N100S probably benign Het
Cldn19 A G 4: 119,112,882 (GRCm39) D38G probably damaging Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Deaf1 G A 7: 140,877,492 (GRCm39) A545V possibly damaging Het
Dicer1 G T 12: 104,688,610 (GRCm39) Y322* probably null Het
Dnajb7 G T 15: 81,291,827 (GRCm39) T170K possibly damaging Het
Flrt2 A T 12: 95,746,074 (GRCm39) E137D probably damaging Het
Galnt12 T C 4: 47,120,362 (GRCm39) F482L probably damaging Het
Gm32742 A G 9: 51,067,974 (GRCm39) V336A probably damaging Het
Gpatch8 G A 11: 102,370,656 (GRCm39) R961W unknown Het
Hcn4 A G 9: 58,766,653 (GRCm39) E738G unknown Het
Kdelr3 A G 15: 79,409,039 (GRCm39) Y76C probably damaging Het
Krt77 T C 15: 101,768,530 (GRCm39) S494G unknown Het
Letmd1 G T 15: 100,367,119 (GRCm39) A39S probably benign Het
Lrrc7 G A 3: 157,840,878 (GRCm39) R1387W probably damaging Het
Meltf T C 16: 31,713,553 (GRCm39) Y599H probably damaging Het
Mybpc1 T A 10: 88,385,209 (GRCm39) I477L probably damaging Het
Nf1 A G 11: 79,338,969 (GRCm39) D1174G probably damaging Het
Or2t6 T A 14: 14,175,402 (GRCm38) I227L probably benign Het
Or8b44 T A 9: 38,410,800 (GRCm39) Y278* probably null Het
Palld G T 8: 61,968,975 (GRCm39) S1283* probably null Het
Pcmtd2 T C 2: 181,488,398 (GRCm39) V183A possibly damaging Het
Pcsk5 T A 19: 17,652,880 (GRCm39) I269F probably damaging Het
Pkd1 T C 17: 24,813,568 (GRCm39) L4036P probably damaging Het
Pkhd1l1 A G 15: 44,458,407 (GRCm39) N4151S possibly damaging Het
Rcor3 C T 1: 191,785,972 (GRCm39) S422N probably benign Het
Rhag A G 17: 41,142,225 (GRCm39) I223V possibly damaging Het
Ssbp4 A G 8: 71,051,672 (GRCm39) Y231H probably damaging Het
Syce1l C T 8: 114,381,770 (GRCm39) Q237* probably null Het
Tenm4 T C 7: 96,423,194 (GRCm39) V663A possibly damaging Het
Timd6 A G 11: 46,468,217 (GRCm39) Y97C probably damaging Het
Trim6 T C 7: 103,875,108 (GRCm39) I115T probably damaging Het
Vinac1 A G 2: 128,880,729 (GRCm39) I399T Het
Vmn1r25 T A 6: 57,956,044 (GRCm39) T82S possibly damaging Het
Vmn2r28 A G 7: 5,484,308 (GRCm39) S631P probably damaging Het
Xpo1 T A 11: 23,235,823 (GRCm39) V637E probably damaging Het
Xpo6 A T 7: 125,770,224 (GRCm39) M62K probably damaging Het
Ypel5 A G 17: 73,153,374 (GRCm39) N26S possibly damaging Het
Zfp629 T C 7: 127,209,415 (GRCm39) D798G probably benign Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H probably damaging Het
Other mutations in Zbtb24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Zbtb24 APN 10 41,327,885 (GRCm39) missense possibly damaging 0.63
R7189_Zbtb24_504 UTSW 10 41,340,472 (GRCm39) missense probably benign 0.00
BB009:Zbtb24 UTSW 10 41,327,504 (GRCm39) missense probably benign
BB019:Zbtb24 UTSW 10 41,327,504 (GRCm39) missense probably benign
R0485:Zbtb24 UTSW 10 41,340,532 (GRCm39) missense probably damaging 0.96
R0553:Zbtb24 UTSW 10 41,327,993 (GRCm39) missense possibly damaging 0.78
R0662:Zbtb24 UTSW 10 41,338,275 (GRCm39) missense probably damaging 1.00
R0927:Zbtb24 UTSW 10 41,327,432 (GRCm39) missense probably benign 0.43
R1164:Zbtb24 UTSW 10 41,340,523 (GRCm39) missense probably damaging 1.00
R1456:Zbtb24 UTSW 10 41,340,989 (GRCm39) missense possibly damaging 0.46
R1464:Zbtb24 UTSW 10 41,331,075 (GRCm39) missense probably damaging 1.00
R1464:Zbtb24 UTSW 10 41,331,075 (GRCm39) missense probably damaging 1.00
R1873:Zbtb24 UTSW 10 41,327,123 (GRCm39) missense probably benign 0.28
R2299:Zbtb24 UTSW 10 41,340,577 (GRCm39) missense probably damaging 1.00
R2371:Zbtb24 UTSW 10 41,327,264 (GRCm39) missense probably damaging 1.00
R4280:Zbtb24 UTSW 10 41,340,916 (GRCm39) missense probably benign 0.34
R4281:Zbtb24 UTSW 10 41,340,916 (GRCm39) missense probably benign 0.34
R4593:Zbtb24 UTSW 10 41,327,953 (GRCm39) missense possibly damaging 0.89
R4991:Zbtb24 UTSW 10 41,332,614 (GRCm39) splice site probably null
R5262:Zbtb24 UTSW 10 41,340,556 (GRCm39) nonsense probably null
R5371:Zbtb24 UTSW 10 41,327,537 (GRCm39) missense probably benign 0.01
R5393:Zbtb24 UTSW 10 41,340,578 (GRCm39) missense probably damaging 1.00
R5428:Zbtb24 UTSW 10 41,340,784 (GRCm39) missense probably benign
R5785:Zbtb24 UTSW 10 41,327,849 (GRCm39) missense probably benign 0.00
R6033:Zbtb24 UTSW 10 41,340,397 (GRCm39) missense probably damaging 1.00
R6033:Zbtb24 UTSW 10 41,340,397 (GRCm39) missense probably damaging 1.00
R6961:Zbtb24 UTSW 10 41,331,171 (GRCm39) missense probably damaging 1.00
R7189:Zbtb24 UTSW 10 41,340,472 (GRCm39) missense probably benign 0.00
R7932:Zbtb24 UTSW 10 41,327,504 (GRCm39) missense probably benign
R8074:Zbtb24 UTSW 10 41,327,228 (GRCm39) missense probably damaging 1.00
R9365:Zbtb24 UTSW 10 41,332,540 (GRCm39) missense probably damaging 0.98
R9484:Zbtb24 UTSW 10 41,327,429 (GRCm39) missense probably benign 0.01
Z1176:Zbtb24 UTSW 10 41,331,186 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTTCATGCCAGGTCCCAG -3'
(R):5'- CTGTAAGATGATGGCCCAAAAG -3'

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