|Institutional Source||Beutler Lab|
|Gene Name||growth factor independent 1B|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8029 (G1)|
|Chromosomal Location||28609450-28621982 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to T at 28613675 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000128052 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028156] [ENSMUST00000164290]|
|Predicted Effect||probably benign
|Predicted Effect||probably null
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for disruption of this gene die as embryos by day E15. Mature adult red blood cells and megakaryocytes fail to develop. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gfi1b||
(F):5'- ATTCATGTCAAGCAAAGGCAAG -3'
(R):5'- GGGAATCACCACTCTCTGAGTC -3'
(F):5'- ATTCCCAGCATAAGGACC -3'
(R):5'- ACAAGCCCAGCTTCTCCTGG -3'