|Institutional Source||Beutler Lab|
|Gene Name||heat shock factor 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8301 (G1)|
|Chromosomal Location||57486385-57513135 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 57505346 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 344 (D344G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078761 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079833]|
|Predicted Effect||probably damaging
AA Change: D344G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D344G
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
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'- ATGACAACGAGGATGAGTATGCTC -3'
(R):5'- GACTGAACTGACTACAAGAAAGTC -3'
(F):5'- CAACGAGGATGAGTATGCTCCTGTC -3'
(R):5'- GTCATGTAAAACATCTGTGTGAGCCG -3'