|Institutional Source||Beutler Lab|
|Gene Name||homeobox B1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6720 (G1)|
|Chromosomal Location||96365752-96368256 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 96366987 bp|
|Amino Acid Change||Glutamine to Lysine at position 248 (Q248K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019117 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019117]|
|Predicted Effect||probably damaging
AA Change: Q248K
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Q248K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.7463|
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele die neonatally with altered segmental identity and abnormal migration of motor neurons in the hindbrain. Mice homozygous for null alleles can exhibit partial postnatal lethality, narrow face, runting, absent facial motor nuclei, and facial nerve/muscle defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxb1||
(F):5'- AGAGAACTGACGTGGCTTTTC -3'
(R):5'- CGTTGGAAGCCCAGTTACTTAG -3'
(F):5'- CCTAGCGAAGGTGTCCGAG -3'
(R):5'- TGGAAGCCCAGTTACTTAGGAAGTTC -3'