|Institutional Source||Beutler Lab|
|Gene Name||homeobox B4|
|Is this an essential gene?||Probably essential (E-score: 0.900)|
|Stock #||R4571 (G1)|
|Chromosomal Location||96318267-96321638 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 96319166 bp|
|Amino Acid Change||Serine to Proline at position 133 (S133P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048002 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049241] [ENSMUST00000093944]|
|Predicted Effect||possibly damaging
AA Change: S133P
PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: S133P
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (69/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Intracellular or ectopic expression of this protein expands hematopoietic stem and progenitor cells in vivo and in vitro, making it a potential candidate for therapeutic stem cell expansion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene causes cervical vertebral transformation and may lead to pre- or neonatal lethality, sternal defects, impaired ventral body wall formation, diaphragm hernias and heart anomalies. Homozygotes for a null allele show a proliferation defect in hematopoietic stem cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxb4||
(F):5'- AGAGCGATTACCTACCCAGC -3'
(R):5'- TTATAGCGGGGACAATTGGC -3'
(F):5'- ACTCGCCCGGGTACTAC -3'
(R):5'- GGGACAATTGGCTTCCCCTC -3'