|Institutional Source||Beutler Lab|
|Gene Name||sine oculis-related homeobox 1|
|Is this an essential gene?||Probably essential (E-score: 0.904)|
|Stock #||R4581 (G1)|
|Chromosomal Location||73040015-73053887 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 73045934 bp (GRCm38)|
|Amino Acid Change||Threonine to Proline at position 165 (T165P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059026 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050029]|
AA Change: T165P
PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
AA Change: T165P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes perinatal lethality associated with severe muscle hypoplasia, rib defects, absence of kidneys and thymus, craniofacial anomalies, as well as defects in neurogenesis and ear, nasal, and gland development. Heterozygotes may show variable hearing loss. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Six1||
(F):5'- TTCATGAACCTTCACAGCAGCG -3'
(R):5'- TATCGGGTGCGCCGAAAATTC -3'
(F):5'- TTCACAGCAGCGTCGCC -3'
(R):5'- TGCGCCGAAAATTCCCGTTG -3'