Incidental Mutation 'R4176:Zbtb16'
ID 319517
Institutional Source Beutler Lab
Gene Symbol Zbtb16
Ensembl Gene ENSMUSG00000066687
Gene Name zinc finger and BTB domain containing 16
Synonyms Green's luxoid, PLZF, Zfp145
MMRRC Submission 041014-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.811) question?
Stock # R4176 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 48565597-48747522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48571101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 555 (F555S)
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: F555S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091374
Gene: ENSMUSG00000066687
AA Change: F555S

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: F555S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,522,000 (GRCm39) E1274G possibly damaging Het
Abi3bp A G 16: 56,472,563 (GRCm39) E424G probably damaging Het
Ankrd10 A G 8: 11,662,644 (GRCm39) I363T probably benign Het
Ankrd12 A T 17: 66,334,361 (GRCm39) N204K probably damaging Het
Brca2 C A 5: 150,463,098 (GRCm39) S954* probably null Het
Col11a1 A C 3: 114,001,872 (GRCm39) D432A possibly damaging Het
Dagla G T 19: 10,240,461 (GRCm39) D256E probably damaging Het
Dsg2 T A 18: 20,713,720 (GRCm39) F230L probably benign Het
Elp5 T C 11: 69,861,388 (GRCm39) Q197R probably null Het
Emilin2 A T 17: 71,581,258 (GRCm39) D489E probably benign Het
Entrep3 T C 3: 89,091,754 (GRCm39) V87A probably damaging Het
Ermp1 A G 19: 29,623,365 (GRCm39) probably null Het
Fam149a A G 8: 45,794,321 (GRCm39) Y614H probably benign Het
Fnbp1 T C 2: 30,926,131 (GRCm39) probably null Het
Gabrb3 T C 7: 57,241,061 (GRCm39) F13S probably benign Het
Hydin G A 8: 111,320,452 (GRCm39) A4499T probably benign Het
Islr2 A T 9: 58,107,183 (GRCm39) C26S probably damaging Het
Jup T A 11: 100,263,287 (GRCm39) D696V probably benign Het
Kcnq5 A C 1: 21,605,392 (GRCm39) V171G probably damaging Het
Kntc1 T G 5: 123,914,680 (GRCm39) S667A possibly damaging Het
Loxhd1 A G 18: 77,418,755 (GRCm39) T293A possibly damaging Het
Lrp1b C A 2: 41,298,405 (GRCm39) C138F probably damaging Het
Lrrc37 T A 11: 103,427,426 (GRCm39) H1388L unknown Het
Mctp2 A G 7: 71,909,085 (GRCm39) I76T probably benign Het
Or2z8 A G 8: 72,812,028 (GRCm39) Y168C probably damaging Het
Or5k16 T C 16: 58,736,947 (GRCm39) D19G probably benign Het
Pbx1 A G 1: 168,018,841 (GRCm39) probably null Het
Pelp1 A T 11: 70,287,693 (GRCm39) W410R probably damaging Het
Phaf1 T C 8: 105,967,763 (GRCm39) L218P probably benign Het
Pkd1 T C 17: 24,806,971 (GRCm39) L3482P probably benign Het
Plekhn1 C T 4: 156,306,258 (GRCm39) G604E probably benign Het
Ptpn22 A G 3: 103,793,561 (GRCm39) T571A probably benign Het
Qrsl1 A T 10: 43,760,828 (GRCm39) S252T probably damaging Het
Rab3gap2 T A 1: 184,978,863 (GRCm39) M280K probably damaging Het
Serpinh1 T C 7: 98,996,206 (GRCm39) M293V probably benign Het
Six4 G A 12: 73,155,605 (GRCm39) T454I probably damaging Het
Slc26a8 T A 17: 28,866,973 (GRCm39) E585D probably benign Het
Slc34a2 T G 5: 53,224,910 (GRCm39) C350W probably damaging Het
Slit2 T A 5: 48,394,586 (GRCm39) probably null Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Trpm7 T C 2: 126,671,083 (GRCm39) K633R possibly damaging Het
Usp38 A C 8: 81,719,928 (GRCm39) S434A probably benign Het
Zfp141 A T 7: 42,125,705 (GRCm39) S256T probably benign Het
Other mutations in Zbtb16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01977:Zbtb16 APN 9 48,568,483 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACCATGGTTGCTTGGGCTTC -3'
(R):5'- GCAGAGCCACAGTAAGTCTAG -3'

Sequencing Primer
(F):5'- GGTTGCTTGGGCTTCTCCAAATAAC -3'
(R):5'- GCCACAGTAAGTCTAGATGTATGAAC -3'
Posted On 2015-06-10