|Institutional Source||Beutler Lab|
|Gene Name||GATA binding protein 3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3753 (G1)|
|Chromosomal Location||9857078-9890034 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 9868840 bp|
|Amino Acid Change||Histidine to Leucine at position 281 (H281L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000100041 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102976]|
|Predicted Effect||probably benign
AA Change: H281L
PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: H281L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9430|
|Coding Region Coverage||
|Validation Efficiency||98% (49/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous inactivation is embryonic lethal and show a variety of embryonic defects. T cell development is impaired when the locus is conditionally. Mice with a spontaneous mutation exhibit partial hair loss and various defects in hair structure and in hair growth cycle regulation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gata3||
(F):5'- CCAGTTTCCTGCAGAAAGCC -3'
(R):5'- TGATCTCAATGCATGTCTAGGG -3'
(F):5'- TGCAGAAAGCCATTCTTCTCAGAG -3'
(R):5'- CTCAGGGATGGAATTCAGATTTTCAG -3'