|Institutional Source||Beutler Lab|
|Gene Name||homeobox A4|
|Essential gene?||Possibly non essential (E-score: 0.361)|
|Stock #||R8134 (G1)|
|Chromosomal Location||52189671-52191753 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 52190557 bp (GRCm38)|
|Amino Acid Change||Histidine to Asparagine at position 215 (H215N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000098943 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000101395] [ENSMUST00000114434] [ENSMUST00000128102]|
|AlphaFold||no structure available at present|
AA Change: H215N
PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: H215N
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to homeotic transformation of cervical vertebrae. Mice homozygous for a knock-out allele also exhibit a hunched appearance of the pectoral girdle. Mice homozygous for a different knock-out allele show additionalsternal defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxa4||
(F):5'- GAGAGAAACTGATCCAGGTCTC -3'
(R):5'- TCCCGTTGTCAATAGCCTGTG -3'
(F):5'- CCAGGTCTCTAGATTATATGGAGGAG -3'
(R):5'- AATGATGATGTCCGATTGCTCTTC -3'