Incidental Mutation 'IGL01977:Zbtb16'
ID 181734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb16
Ensembl Gene ENSMUSG00000066687
Gene Name zinc finger and BTB domain containing 16
Synonyms Green's luxoid, PLZF, Zfp145
Accession Numbers
Essential gene? Probably essential (E-score: 0.811) question?
Stock # IGL01977
Quality Score
Status
Chromosome 9
Chromosomal Location 48565597-48747522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48568483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 661 (W661R)
Ref Sequence ENSEMBL: ENSMUSP00000150887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093852] [ENSMUST00000216150]
AlphaFold Q3UQ17
Predicted Effect probably damaging
Transcript: ENSMUST00000093852
AA Change: W661R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091374
Gene: ENSMUSG00000066687
AA Change: W661R

DomainStartEndE-ValueType
BTB 34 126 1.41e-24 SMART
ZnF_C2H2 404 426 3.72e0 SMART
ZnF_C2H2 432 454 8.22e-2 SMART
ZnF_C2H2 461 483 2.24e-3 SMART
ZnF_C2H2 490 512 1.56e-2 SMART
ZnF_C2H2 518 540 1.63e-5 SMART
ZnF_C2H2 546 568 1.95e-3 SMART
ZnF_C2H2 574 596 5.9e-3 SMART
ZnF_C2H2 602 624 2.36e-2 SMART
ZnF_C2H2 630 652 2.24e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000216150
AA Change: W661R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit abnormal anterior-posterior patterning, with skeletal abnormalities of the limb, especially the hindlimb, and homeotic transformations of anterior skeletal elements into posterior structures. Males develop infertility due to loss of germline cells with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,841,986 (GRCm39) S1040T probably benign Het
Adam25 T C 8: 41,208,134 (GRCm39) Y467H probably benign Het
Ank1 A G 8: 23,605,449 (GRCm39) I1061V probably benign Het
Anxa10 T C 8: 62,529,348 (GRCm39) E123G probably damaging Het
Arhgap35 G A 7: 16,297,128 (GRCm39) L646F probably damaging Het
Atp8b5 A G 4: 43,320,590 (GRCm39) probably null Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Carmil3 A G 14: 55,730,993 (GRCm39) T87A probably damaging Het
Ccdc172 A G 19: 58,541,309 (GRCm39) D256G possibly damaging Het
Cep350 C T 1: 155,787,714 (GRCm39) A1375T probably benign Het
Chrdl2 A T 7: 99,671,263 (GRCm39) Q127L probably benign Het
Cyp2c29 T C 19: 39,279,341 (GRCm39) probably benign Het
Ddi1 C A 9: 6,266,226 (GRCm39) V48F probably benign Het
Ddrgk1 C T 2: 130,497,166 (GRCm39) probably benign Het
Fastkd1 C T 2: 69,524,932 (GRCm39) V626I possibly damaging Het
Fgd5 A G 6: 92,001,543 (GRCm39) T755A probably benign Het
Fpgt G T 3: 154,793,655 (GRCm39) T124K probably damaging Het
Gnl2 G A 4: 124,941,405 (GRCm39) probably null Het
Got1 A T 19: 43,504,284 (GRCm39) S46T probably benign Het
Hbb-bt G T 7: 103,463,070 (GRCm39) H3N probably benign Het
Ikbke C T 1: 131,199,838 (GRCm39) probably benign Het
Il2rb A G 15: 78,365,897 (GRCm39) S467P probably benign Het
Kcnma1 A G 14: 23,580,367 (GRCm39) probably benign Het
Ltbp2 T C 12: 84,876,973 (GRCm39) N391D probably damaging Het
Npr3 A T 15: 11,858,804 (GRCm39) I360N probably damaging Het
Nradd G A 9: 110,451,237 (GRCm39) P44S possibly damaging Het
Or5m10 G T 2: 85,717,711 (GRCm39) C189F probably damaging Het
Or7h8 G A 9: 20,123,755 (GRCm39) V37I possibly damaging Het
Pcdh17 A G 14: 84,770,537 (GRCm39) E1005G possibly damaging Het
Pcdhb11 A G 18: 37,555,344 (GRCm39) T225A possibly damaging Het
Pja2 T C 17: 64,604,821 (GRCm39) D454G probably benign Het
Pon3 T C 6: 5,221,670 (GRCm39) Y320C probably damaging Het
Prl2a1 A G 13: 27,990,261 (GRCm39) D70G probably damaging Het
Proc T A 18: 32,260,472 (GRCm39) T218S probably benign Het
Proz G T 8: 13,116,913 (GRCm39) G155V probably damaging Het
Rab11fip3 T C 17: 26,286,977 (GRCm39) E392G possibly damaging Het
Rab3gap2 C T 1: 184,999,220 (GRCm39) R976* probably null Het
Shisa2 G A 14: 59,867,435 (GRCm39) C229Y probably damaging Het
Slc2a5 T C 4: 150,226,675 (GRCm39) V379A probably damaging Het
Slc31a2 A T 4: 62,214,197 (GRCm39) K47N probably damaging Het
Sult2a6 G A 7: 13,987,411 (GRCm39) T88I probably benign Het
Tbc1d14 T C 5: 36,662,381 (GRCm39) Y302C probably damaging Het
Thumpd3 C A 6: 113,036,927 (GRCm39) N275K possibly damaging Het
Tnks2 T C 19: 36,849,990 (GRCm39) probably null Het
Tube1 G A 10: 39,011,041 (GRCm39) probably benign Het
Umodl1 T A 17: 31,192,742 (GRCm39) Y290N probably damaging Het
Usp34 G A 11: 23,402,661 (GRCm39) E726K probably damaging Het
Vmn2r84 T A 10: 130,229,935 (GRCm39) D59V probably benign Het
Vps11 T A 9: 44,267,516 (GRCm39) probably benign Het
Wdr19 T C 5: 65,385,912 (GRCm39) Y631H probably benign Het
Wdr62 G A 7: 29,957,526 (GRCm39) H88Y probably damaging Het
Wdr93 A T 7: 79,402,253 (GRCm39) N184I probably damaging Het
Wnk4 T A 11: 101,156,240 (GRCm39) F473Y probably damaging Het
Other mutations in Zbtb16
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0324:Zbtb16 UTSW 9 48,576,575 (GRCm39) missense possibly damaging 0.82
R0364:Zbtb16 UTSW 9 48,654,876 (GRCm39) splice site probably benign
R1538:Zbtb16 UTSW 9 48,743,583 (GRCm39) missense probably benign
R1575:Zbtb16 UTSW 9 48,743,572 (GRCm39) missense probably damaging 0.96
R1937:Zbtb16 UTSW 9 48,571,078 (GRCm39) missense probably benign
R2656:Zbtb16 UTSW 9 48,743,988 (GRCm39) missense probably damaging 1.00
R4176:Zbtb16 UTSW 9 48,571,101 (GRCm39) missense probably damaging 1.00
R4582:Zbtb16 UTSW 9 48,743,382 (GRCm39) missense probably benign
R4595:Zbtb16 UTSW 9 48,743,380 (GRCm39) missense possibly damaging 0.79
R6466:Zbtb16 UTSW 9 48,576,619 (GRCm39) missense possibly damaging 0.95
R6966:Zbtb16 UTSW 9 48,568,654 (GRCm39) missense probably damaging 1.00
R7596:Zbtb16 UTSW 9 48,743,704 (GRCm39) missense possibly damaging 0.93
R7751:Zbtb16 UTSW 9 48,654,769 (GRCm39) missense probably damaging 1.00
R7904:Zbtb16 UTSW 9 48,744,272 (GRCm39) missense probably damaging 1.00
R8922:Zbtb16 UTSW 9 48,743,857 (GRCm39) missense probably benign
Z1176:Zbtb16 UTSW 9 48,568,588 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07