|Institutional Source||Beutler Lab|
|Gene Name||homeobox B4|
|Is this an essential gene?||Probably essential (E-score: 0.811)|
|Stock #||R5502 (G1)|
|Chromosomal Location||96318267-96321638 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 96320231 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 219 (D219G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048002 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049241] [ENSMUST00000093944]|
|Predicted Effect||probably damaging
AA Change: D219G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D219G
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.5697|
|Coding Region Coverage||
|Validation Efficiency||98% (84/86)|
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'- GTAAACCCCAATTACGCCGG -3'
(R):5'- TCTATAAATAAGGCTTCCCTACCC -3'
(F):5'- GGGGAGCCCAAGCGCTC -3'
(R):5'- TTCCTTATAGATAAAGTGAGGGTAGG -3'