|Institutional Source||Beutler Lab|
|Gene Name||homeobox B13|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4658 (G1)|
|Chromosomal Location||96194316-96197447 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 96194483 bp|
|Amino Acid Change||Aspartic acid to Valine at position 14 (D14V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056315 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062709]|
|Predicted Effect||probably benign
AA Change: D14V
PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: D14V
|Meta Mutation Damage Score||0.1063|
|Coding Region Coverage||
|Validation Efficiency||99% (88/89)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin development and cutaneous regeneration. In mice, a similar gene was shown to exhibit temporal and spatial colinearity in the main body axis of the embryo, but was not expressed in the secondary axes, which suggests functions in body patterning along the axis. This gene and other HOXB genes form a gene cluster at chromosome the 17q21-22 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for loss of function mutations show overgrowth in all major structures derived from the tail bud. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxb13||
(F):5'- TGCGTCTCTTGCGTCAAGAC -3'
(R):5'- AGTACCCGCCTCCAAAGTAG -3'
(F):5'- GTCAAGACGGCCCAGCC -3'
(R):5'- GCCTCCAAAGTAGCCATAAGG -3'