|Institutional Source||Beutler Lab|
|Gene Name||SRY (sex determining region Y)-box 4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7177 (G1)|
|Chromosomal Location||28948919-28953713 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 28953017 bp|
|Amino Acid Change||Valine to Alanine at position 2 (V2A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000100013 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067230]|
|PDB Structure||Structure of the Sox4 HMG domain bound to DNA [X-RAY DIFFRACTION]|
|Predicted Effect||probably damaging
AA Change: V2A
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V2A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants die at embryonic day 14 due to circulatory failure and showing impaired development of the semilunar valves and the muscular ventricular septum. Null fetal liver cells are unable to develop into B-cells in chimeric mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sox4||
(F):5'- CACCATAAAGGCGTTCATGG -3'
(R):5'- ACTCCGGCTACCAACGTTTG -3'
(F):5'- CGTTCATGGGCCGCTTG -3'
(R):5'- AGCACTTCAGCGGTGAGG -3'