|Institutional Source||Beutler Lab|
|Gene Name||GATA binding protein 5|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6749 (G1)|
|Chromosomal Location||180325133-180334699 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 180334350 bp|
|Amino Acid Change||Leucine to Serine at position 7 (L7S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015771 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015771]|
|Predicted Effect||probably damaging
AA Change: L7S
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: L7S
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (47/47)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for disruptions in this gene are viable and fertile and appear to be normal. Females, on the other hand, have abnormalities of the external genitalia, most apparently reduced distance between anus and vagina, and experience reduced fertility due to vaginal tract obstructions. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gata5||
(F):5'- AATCAGCGGCAACTGCTTG -3'
(R):5'- TGTCATTCCACCCAGAGGAG -3'
(F):5'- CAACTGCTTGTGTCCAGCTGG -3'
(R):5'- GACCTGCCCTGGTGAAC -3'