|Institutional Source||Beutler Lab|
|Gene Name||zinc finger protein, multitype 2|
|Synonyms||B330005D23Rik, FOG2, FOG-2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1482 (G1)|
|Chromosomal Location||40655035-41104592 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 41099291 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 248 (D248E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051335 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053467] [ENSMUST00000230319]|
|Predicted Effect||probably damaging
AA Change: D248E
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: D248E
|Predicted Effect||possibly damaging
AA Change: D116E
PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac defects, including absence of coronary vasculature, resulting in lethality between E12.5 and E15.5. Conditional mutations reveal errors in ovary and testis development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Zfpm2||
(F):5'- AGAGACACTGATCACTGTCACCACG -3'
(R):5'- AGGCTGGAAACCTGATGCGAGTTG -3'
(F):5'- TCTGAACAGTCCTTGGGAAC -3'
(R):5'- AAACCTGATGCGAGTTGTCTTC -3'