|Institutional Source||Beutler Lab|
|Gene Name||Hspb associated protein 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1099 (G1)|
|Chromosomal Location||35770375-35828477 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 35824944 bp|
|Amino Acid Change||Phenylalanine to Cysteine at position 333 (F333C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000156217 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023555] [ENSMUST00000231579]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: F333C
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hspbap1||
(F):5'- CCAAAAGCATGGGTCTGCCTTCTG -3'
(R):5'- TGCAAAGTGTCCTCCATTACTGCTG -3'
(F):5'- TTTCCTCAGGAAGAGGACCAC -3'
(R):5'- ACTGCTGACAGATTCTTCGC -3'