|Institutional Source||Beutler Lab|
|Gene Name||homeobox A10|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||PIT4651001 (G1)|
|Chromosomal Location||52231197-52240854 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 52234897 bp|
|Amino Acid Change||Asparagine to Threonine at position 13 (N13T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000120276 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000121043] [ENSMUST00000125581]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: N13T
PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: N13T
|Coding Region Coverage||
FUNCTION: 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 a cluster on chromosome 6 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes are viable with homeotic transformation of vertebrae and lumbar spinal nerves, misshapen femurs and degeneration of knee articulation. Males show cryptorchidism and testes dysmorphology. Females have uterine defects affecting embryo viability. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxa10||
(F):5'- GCGCTTCATTACGCTTGCTG -3'
(R):5'- TTTATATCAATCGCGGGCTCC -3'
(F):5'- ATTACGCTTGCTGCCCAG -3'
(R):5'- CGAAACCAAACTGGGAGT -3'