|Institutional Source||Beutler Lab|
|Gene Name||GATA binding protein 6|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5368 (G1)|
|Chromosomal Location||11052508-11085635 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 11063059 bp|
|Amino Acid Change||Histidine to Glutamine at position 442 (H442Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041774 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047762]|
|Predicted Effect||possibly damaging
AA Change: H442Q
PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: H442Q
|Meta Mutation Damage Score||0.1331|
|Coding Region Coverage||
|Validation Efficiency||97% (61/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous null mutant E5.5 embryos lack parts of the visceral endoderm, show impaired embryonic ectoderm development, and die soon post-implantation, apparently of extraembryonic tissue defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gata6||
(F):5'- TTCTAGTCCAGGAAGTCTGCC -3'
(R):5'- AGCTTGAATTCGCTACAAGGC -3'
(F):5'- CCAGGAAGTCTGCCTAATTATATTTG -3'
(R):5'- GCTTGAATTCGCTACAAGGCATATG -3'