|Institutional Source||Beutler Lab|
|Gene Name||Hbs1-like (S. cerevisiae)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0375 (G1)|
|Chromosomal Location||21295979-21368898 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 21342541 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 312 (D312E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151689 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020153] [ENSMUST00000218714] [ENSMUST00000219915]|
AA Change: D309E
PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: D309E
AA Change: D312E
PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|Meta Mutation Damage Score||0.7771|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hbs1l||
(F):5'- TGCAATGCCTCAATGTGAGCATCTG -3'
(R):5'- ATATGCCGAGGGAGCAACAACTGC -3'
(F):5'- GCCTCAATGTGAGCATCTGAAATG -3'
(R):5'- GTCCAGCACTGCTGTCTG -3'