Incidental Mutation 'R3730:Zbtb33'
ID 270956
Institutional Source Beutler Lab
Gene Symbol Zbtb33
Ensembl Gene ENSMUSG00000048047
Gene Name zinc finger and BTB domain containing 33
Synonyms ZNF-Kaiso, kaiso, E130014G12Rik
Accession Numbers
Essential gene? Not available question?
Stock # R3730 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 37278670-37285923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37281822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 243 (N243K)
Ref Sequence ENSEMBL: ENSMUSP00000118993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049740] [ENSMUST00000066498] [ENSMUST00000089054] [ENSMUST00000089056] [ENSMUST00000115142] [ENSMUST00000131124]
AlphaFold Q8BN78
Predicted Effect probably benign
Transcript: ENSMUST00000049740
AA Change: N243K

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000049983
Gene: ENSMUSG00000048047
AA Change: N243K

DomainStartEndE-ValueType
BTB 32 125 1.52e-20 SMART
low complexity region 187 195 N/A INTRINSIC
low complexity region 286 299 N/A INTRINSIC
low complexity region 327 346 N/A INTRINSIC
ZnF_C2H2 492 514 4.98e-1 SMART
ZnF_C2H2 520 542 6.13e-1 SMART
ZnF_C2H2 548 571 1.18e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066498
SMART Domains Protein: ENSMUSP00000064511
Gene: ENSMUSG00000036502

DomainStartEndE-ValueType
Pfam:FAM70 7 350 3e-156 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089054
SMART Domains Protein: ENSMUSP00000086455
Gene: ENSMUSG00000036502

DomainStartEndE-ValueType
Pfam:FAM70 2 328 1e-163 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089056
SMART Domains Protein: ENSMUSP00000086457
Gene: ENSMUSG00000036502

DomainStartEndE-ValueType
Pfam:FAM70 2 319 4.4e-148 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115142
AA Change: N243K

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110795
Gene: ENSMUSG00000048047
AA Change: N243K

DomainStartEndE-ValueType
BTB 32 125 1.52e-20 SMART
low complexity region 187 195 N/A INTRINSIC
low complexity region 286 299 N/A INTRINSIC
low complexity region 327 346 N/A INTRINSIC
ZnF_C2H2 492 514 4.98e-1 SMART
ZnF_C2H2 520 542 6.13e-1 SMART
ZnF_C2H2 548 571 1.18e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131124
AA Change: N243K

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000118993
Gene: ENSMUSG00000048047
AA Change: N243K

DomainStartEndE-ValueType
BTB 32 125 1.52e-20 SMART
low complexity region 187 195 N/A INTRINSIC
low complexity region 286 299 N/A INTRINSIC
low complexity region 327 346 N/A INTRINSIC
ZnF_C2H2 492 514 4.98e-1 SMART
ZnF_C2H2 520 542 6.13e-1 SMART
ZnF_C2H2 548 571 1.18e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155848
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 90.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional regulator with bimodal DNA-binding specificity, which binds to methylated CGCG and also to the non-methylated consensus KAISO-binding site TCCTGCNA. The protein contains an N-terminal POZ/BTB domain and 3 C-terminal zinc finger motifs. It recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. It may contribute to the repression of target genes of the Wnt signaling pathway, and may also activate transcription of a subset of target genes by the recruitment of catenin delta-2 (CTNND2). Its interaction with catenin delta-1 (CTNND1) inhibits binding to both methylated and non-methylated DNA. It also interacts directly with the nuclear import receptor Importin-α2 (also known as karyopherin alpha2 or RAG cohort 1), which may mediate nuclear import of this protein. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null females and hemizygous null males are viable, fertile and overtly normal with no detectable changes in blood cell composition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A G 1: 11,615,450 (GRCm39) N141S probably damaging Het
Acbd6 T A 1: 155,434,471 (GRCm39) S30T probably benign Het
Acot12 T A 13: 91,908,145 (GRCm39) F109Y possibly damaging Het
Adamts19 G A 18: 59,033,982 (GRCm39) R319Q probably damaging Het
Akap1 T C 11: 88,736,008 (GRCm39) E218G possibly damaging Het
Atg4b T A 1: 93,695,997 (GRCm39) D45E probably damaging Het
Atoh1 A G 6: 64,706,557 (GRCm39) E84G probably benign Het
Cemip2 A G 19: 21,803,481 (GRCm39) Y838C probably damaging Het
Cfap251 A T 5: 123,464,631 (GRCm39) I1280L possibly damaging Het
Cfap54 A T 10: 92,847,335 (GRCm39) Y951* probably null Het
Col4a4 T A 1: 82,433,472 (GRCm39) probably null Het
Crlf1 A G 8: 70,952,092 (GRCm39) T95A probably benign Het
Cyp3a25 G A 5: 145,939,891 (GRCm39) P39S probably damaging Het
Dhx9 C A 1: 153,353,866 (GRCm39) A186S probably benign Het
Dusp16 A G 6: 134,695,824 (GRCm39) S336P probably benign Het
Fcgbp T C 7: 27,784,882 (GRCm39) V314A possibly damaging Het
Focad T C 4: 88,327,162 (GRCm39) I157T possibly damaging Het
Frem3 A T 8: 81,342,545 (GRCm39) T1613S probably damaging Het
Fshr C T 17: 89,309,143 (GRCm39) V222I probably benign Het
Galnt13 A G 2: 54,823,519 (GRCm39) N365S possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ice1 A T 13: 70,751,359 (GRCm39) S1576T probably damaging Het
Ighv1-19 C A 12: 114,672,497 (GRCm39) C40F probably damaging Het
Itga8 T C 2: 12,198,321 (GRCm39) T555A possibly damaging Het
Kctd5 T C 17: 24,278,212 (GRCm39) D146G probably benign Het
Ktn1 A G 14: 47,938,606 (GRCm39) E766G probably damaging Het
Ldlr C G 9: 21,643,097 (GRCm39) A41G probably benign Het
Lrp2 G A 2: 69,294,923 (GRCm39) P3465L probably damaging Het
Lrp2 A T 2: 69,365,251 (GRCm39) probably null Het
Mapk11 G A 15: 89,029,318 (GRCm39) A248V probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Npr2 T C 4: 43,640,999 (GRCm39) S402P possibly damaging Het
Olfm2 T C 9: 20,584,063 (GRCm39) N76D probably damaging Het
Or7g33 T A 9: 19,448,447 (GRCm39) I260F probably benign Het
Or8k3 A G 2: 86,059,195 (GRCm39) I40T probably benign Het
Pias4 A T 10: 80,999,888 (GRCm39) F55Y probably damaging Het
Rgs12 G A 5: 35,189,595 (GRCm39) E658K probably damaging Het
Ripor3 C G 2: 167,834,739 (GRCm39) E251Q probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc35e4 A G 11: 3,862,577 (GRCm39) V204A possibly damaging Het
Syt4 T C 18: 31,577,189 (GRCm39) H55R probably damaging Het
Trim46 T A 3: 89,142,256 (GRCm39) T721S probably benign Het
Usf3 G T 16: 44,038,938 (GRCm39) L1139F probably benign Het
Xrn2 A T 2: 146,866,729 (GRCm39) M100L probably benign Het
Zfp960 T A 17: 17,308,633 (GRCm39) L449H probably damaging Het
Predicted Primers PCR Primer
(F):5'- GCTACAGTAATGCCCATTATAACTGAG -3'
(R):5'- GGAGTGAAGAACTGGCACTC -3'

Sequencing Primer
(F):5'- GAGTCTTTTTCACTATCTGCTGAAG -3'
(R):5'- CACTCGGTGGTGCAGTAAG -3'
Posted On 2015-03-18