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|Institutional Source||Beutler Lab|
|Gene Name||egl-9 family hypoxia-inducible factor 1|
|Synonyms||Hif-p4h-2, Phd2, ORF13, SM-20|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6160 (G1)|
|Chromosomal Location||124908587-124949324 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 124948492 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 188 (D188G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034469 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034469]|
|Predicted Effect||probably damaging
AA Change: D188G
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: D188G
|Coding Region Coverage||
|Validation Efficiency||94% (62/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis with abnormal placental and cardiac morphology. Ubiquitous induced conditional null mice display increased angiogenesis, angiectasia, and increased hematopoietic activity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Egln1||
(F):5'- ATGAGCAGGCCGATGGTTTC -3'
(R):5'- GCTCCTTCTACTGCTGCAAAG -3'
(F):5'- ATGGTTTCGCAGCCGGG -3'
(R):5'- TCCGAGGATCCTCCGCTTAG -3'