|Institutional Source||Beutler Lab|
|Gene Name||heat shock factor 2|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7182 (G1)|
|Chromosomal Location||57486385-57513135 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 57505176 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 287 (D287E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078761 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079833] [ENSMUST00000220042] [ENSMUST00000220353]|
|AlphaFold||no structure available at present|
AA Change: D287E
PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: D287E
AA Change: D230E
PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|Coding Region Coverage||
|Validation Efficiency||96% (70/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased late-gestational lethality associated with collapsed lateral ventricles and ventricular bleeding. Survivors may show ventricular dilation, sterility in females, and reduced sperm counts in males. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hsf2||
(F):5'- CTCAGGGTTTCTATCTTACGGATTG -3'
(R):5'- TTGTCATTCAGAATGGAGTCCATCATG -3'
(F):5'- GGATTGTCAAAACCTATGCTTAAGCG -3'
(R):5'- TCAGAATGGAGTCCATCATGGTCAC -3'