Incidental Mutation 'R6966:Zbtb16'
ID 542002
Institutional Source Beutler Lab
Gene Symbol Zbtb16
Ensembl Gene ENSMUSG00000066687
Gene Name zinc finger and BTB domain containing 16
Synonyms Green's luxoid, Zfp145, PLZF
MMRRC Submission 045076-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.682) question?
Stock # R6966 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 48654297-48836222 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48657354 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 604 (C604R)
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: C604R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091374
Gene: ENSMUSG00000066687
AA Change: C604R

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: C604R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b G A 8: 43,521,435 (GRCm38) R177C possibly damaging Het
Adgrb2 CG C 4: 130,014,362 (GRCm38) probably null Het
Bahcc1 G A 11: 120,283,159 (GRCm38) V1582M probably damaging Het
Baiap2 A T 11: 120,006,405 (GRCm38) R529* probably null Het
Bcl9l C T 9: 44,509,388 (GRCm38) Q1327* probably null Het
Brsk2 T A 7: 141,984,533 (GRCm38) C139S possibly damaging Het
Catsper3 T A 13: 55,798,859 (GRCm38) I123N probably damaging Het
Cd84 A G 1: 171,886,409 (GRCm38) N325D possibly damaging Het
Chid1 T A 7: 141,496,384 (GRCm38) Y357F possibly damaging Het
Clstn2 A T 9: 97,526,406 (GRCm38) Y416* probably null Het
Cnot1 A T 8: 95,724,532 (GRCm38) L2189Q probably damaging Het
Csnk2b T A 17: 35,117,782 (GRCm38) I170L probably benign Het
Dnah3 T C 7: 120,032,754 (GRCm38) Q1326R probably damaging Het
Drd1 T C 13: 54,053,545 (GRCm38) I210V probably damaging Het
Eef1d G T 15: 75,903,709 (GRCm38) Q34K probably benign Het
Fam184a T C 10: 53,654,999 (GRCm38) T760A probably benign Het
Fnip1 G T 11: 54,482,559 (GRCm38) V199F probably benign Het
Glyatl3 T C 17: 40,904,938 (GRCm38) K226E probably damaging Het
Gm19410 C T 8: 35,817,973 (GRCm38) T2093I possibly damaging Het
Herc1 A T 9: 66,411,065 (GRCm38) E1206D probably benign Het
Hs6st1 G A 1: 36,104,218 (GRCm38) W411* probably null Het
Hsf2 C A 10: 57,495,984 (GRCm38) S60R probably damaging Het
Hyal5 C A 6: 24,891,292 (GRCm38) N368K probably damaging Het
Itgb2l A T 16: 96,430,643 (GRCm38) F308I probably benign Het
Kdm7a G A 6: 39,152,839 (GRCm38) L468F probably damaging Het
Lamp3 A T 16: 19,699,653 (GRCm38) L278* probably null Het
Ly6c1 A T 15: 75,045,440 (GRCm38) probably benign Het
Mark3 A G 12: 111,640,024 (GRCm38) N524D probably damaging Het
Met T G 6: 17,531,532 (GRCm38) L603R possibly damaging Het
Mical1 A T 10: 41,479,754 (GRCm38) Q198L probably damaging Het
Nacad T A 11: 6,602,634 (GRCm38) I186F possibly damaging Het
Nt5c3b A T 11: 100,429,924 (GRCm38) M257K probably benign Het
Nuak2 T C 1: 132,325,032 (GRCm38) M108T possibly damaging Het
Nub1 T A 5: 24,689,472 (GRCm38) Y51N probably damaging Het
Nxpe5 T C 5: 138,239,417 (GRCm38) S68P probably damaging Het
Olfr1124 C T 2: 87,435,279 (GRCm38) T264I probably damaging Het
Olfr1174-ps A G 2: 88,311,491 (GRCm38) S102P probably benign Het
Olfr798 A G 10: 129,625,764 (GRCm38) V99A probably benign Het
Pias3 A G 3: 96,702,195 (GRCm38) D276G probably damaging Het
Setd7 A G 3: 51,530,184 (GRCm38) Y217H probably damaging Het
Slc23a1 A T 18: 35,625,061 (GRCm38) I142N probably damaging Het
Slx4ip T C 2: 137,068,224 (GRCm38) S310P probably damaging Het
Tcp11l2 G A 10: 84,591,269 (GRCm38) R199Q possibly damaging Het
Tgm4 T A 9: 123,051,142 (GRCm38) D226E possibly damaging Het
Tspyl4 C A 10: 34,297,677 (GRCm38) A55E probably benign Het
Uap1l1 A G 2: 25,364,938 (GRCm38) I146T probably damaging Het
Ush2a G A 1: 188,576,244 (GRCm38) G2030D probably damaging Het
Uts2r G A 11: 121,161,387 (GRCm38) G359D possibly damaging Het
Vwa7 T C 17: 35,017,096 (GRCm38) S9P probably benign Het
Zfp804b A G 5: 6,771,615 (GRCm38) S483P probably damaging Het
Zfpm1 G A 8: 122,332,165 (GRCm38) A175T probably damaging Het
Other mutations in Zbtb16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01977:Zbtb16 APN 9 48,657,183 (GRCm38) missense probably damaging 1.00
R0324:Zbtb16 UTSW 9 48,665,275 (GRCm38) missense possibly damaging 0.82
R0364:Zbtb16 UTSW 9 48,743,576 (GRCm38) splice site probably benign
R1538:Zbtb16 UTSW 9 48,832,283 (GRCm38) missense probably benign
R1575:Zbtb16 UTSW 9 48,832,272 (GRCm38) missense probably damaging 0.96
R1937:Zbtb16 UTSW 9 48,659,778 (GRCm38) missense probably benign
R2656:Zbtb16 UTSW 9 48,832,688 (GRCm38) missense probably damaging 1.00
R4176:Zbtb16 UTSW 9 48,659,801 (GRCm38) missense probably damaging 1.00
R4582:Zbtb16 UTSW 9 48,832,082 (GRCm38) missense probably benign
R4595:Zbtb16 UTSW 9 48,832,080 (GRCm38) missense possibly damaging 0.79
R6466:Zbtb16 UTSW 9 48,665,319 (GRCm38) missense possibly damaging 0.95
R7596:Zbtb16 UTSW 9 48,832,404 (GRCm38) missense possibly damaging 0.93
R7751:Zbtb16 UTSW 9 48,743,469 (GRCm38) missense probably damaging 1.00
R7904:Zbtb16 UTSW 9 48,832,972 (GRCm38) missense probably damaging 1.00
R8922:Zbtb16 UTSW 9 48,832,557 (GRCm38) missense probably benign
Z1176:Zbtb16 UTSW 9 48,657,288 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-11-28