|Institutional Source||Beutler Lab|
|Gene Name||hemoglobin, beta adult s chain|
|Essential gene?||Possibly non essential (E-score: 0.354)|
|Stock #||R5802 (G1)|
|Chromosomal Location||103826534-103828096 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 103826672 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Cysteine at position 146 (Y146C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023934 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023934] [ENSMUST00000153218]|
AA Change: Y146C
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: Y146C
|Meta Mutation Damage Score||0.8627|
|Coding Region Coverage||
|Validation Efficiency||97% (63/65)|
|MGI Phenotype||FUNCTION: This gene encodes a beta polypeptide chain found in adult hemoglobin, which consists of a tetramer of two alpha chains and two beta chains, and which functions in the transport of oxygen to various peripheral tissues. This gene is one of a cluster of beta-hemoglobin genes that are distally regulated by a locus control region, and which are organized along the chromosome in the order of their developmental expression. In mouse, two major strain-specific haplotypes of the beta-globin gene cluster are found - a "single" haplotype found in C57BL/-type strains, which includes two highly similar adult beta-globin genes, beta s and beta t, and a "diffuse" haplotype found in strains such as BALB/c and 129Sv, which includes two somewhat diverse adult beta-globin genes, beta-major and beta-minor. This gene represents the beta s adult gene found in the "single" haplotype. Primary chromosome 7 of the mouse reference genome assembly, which is derived from C57BL/6 strain mice, represents the "single" haplotype, while the "diffuse" haplotype is represented in the reference genome collection by the BALB/c strain alternate contig, NT_095534.1. [provided by RefSeq, May 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hbb-bs||
(F):5'- TAGCATAAACCCTTCTATGACACAG -3'
(R):5'- TCAGCAGTTTAAGGTTGCAAAC -3'
(F):5'- TTGCCAACAACTGACAGA -3'
(R):5'- GCAGTTTAAGGTTGCAAACAAATGTC -3'