Incidental Mutation 'IGL02532:Hbb-bt'
ID 297370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hbb-bt
Ensembl Gene ENSMUSG00000073940
Gene Name hemoglobin, beta adult t chain
Synonyms beta t
Accession Numbers
Essential gene? Not available question?
Stock # IGL02532
Quality Score
Status
Chromosome 7
Chromosomal Location 103461731-103463130 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 103463081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098192]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000098192
SMART Domains Protein: ENSMUSP00000095794
Gene: ENSMUSG00000073940

DomainStartEndE-ValueType
Pfam:Globin 8 112 1.3e-31 PFAM
Coding Region Coverage
Validation Efficiency
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 t 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
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik T C 7: 28,947,645 (GRCm39) K15E possibly damaging Het
Abca2 A G 2: 25,325,148 (GRCm39) T381A probably benign Het
Adcy1 T A 11: 7,094,737 (GRCm39) N554K probably benign Het
Adcy5 A G 16: 35,092,453 (GRCm39) I605V possibly damaging Het
Arhgap11a G T 2: 113,664,021 (GRCm39) S754* probably null Het
Arhgef28 T A 13: 98,166,391 (GRCm39) D319V probably damaging Het
Brca2 A G 5: 150,474,327 (GRCm39) D2410G probably damaging Het
Carmil2 T A 8: 106,419,063 (GRCm39) probably null Het
Catip A G 1: 74,403,775 (GRCm39) N189S probably damaging Het
Cd177 T C 7: 24,444,674 (GRCm39) K636E probably benign Het
Cep290 A G 10: 100,380,927 (GRCm39) T145A probably benign Het
Cthrc1 T C 15: 38,940,560 (GRCm39) probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fas C A 19: 34,293,999 (GRCm39) T118N probably damaging Het
Fgd3 G A 13: 49,439,237 (GRCm39) A253V probably damaging Het
Fig4 A G 10: 41,161,277 (GRCm39) probably benign Het
Fubp3 T C 2: 31,490,571 (GRCm39) probably benign Het
Gria2 T A 3: 80,614,306 (GRCm39) E578V probably damaging Het
Gtpbp1 T A 15: 79,604,278 (GRCm39) V662E probably benign Het
Ighv6-5 T A 12: 114,380,424 (GRCm39) D50V probably benign Het
Inpp5k T C 11: 75,524,010 (GRCm39) probably benign Het
Kalrn T C 16: 34,181,216 (GRCm39) N141D probably damaging Het
Kbtbd8 A G 6: 95,103,517 (GRCm39) T389A probably benign Het
Klhl6 C A 16: 19,775,832 (GRCm39) R242L possibly damaging Het
Kmt2b T C 7: 30,286,314 (GRCm39) probably benign Het
Krt13 A T 11: 100,010,195 (GRCm39) L262Q probably damaging Het
Lingo2 T C 4: 35,709,171 (GRCm39) K270E possibly damaging Het
Mroh7 A G 4: 106,577,788 (GRCm39) S297P probably benign Het
Ndufs1 G A 1: 63,209,298 (GRCm39) R22C probably damaging Het
Nlrp5 T A 7: 23,109,398 (GRCm39) S115T possibly damaging Het
Nup50l A C 6: 96,141,771 (GRCm39) S424R probably damaging Het
Pfpl A T 19: 12,406,209 (GRCm39) R153S probably damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Psme1 T A 14: 55,818,595 (GRCm39) Y223* probably null Het
R3hdm1 T C 1: 128,124,836 (GRCm39) probably null Het
Rnf103 A G 6: 71,486,809 (GRCm39) D480G probably benign Het
Rnf103 T G 6: 71,486,636 (GRCm39) S422R probably damaging Het
Rps6ka2 T C 17: 7,523,365 (GRCm39) V213A probably damaging Het
Sort1 G T 3: 108,233,036 (GRCm39) K203N probably benign Het
Sugp1 A T 8: 70,512,469 (GRCm39) K239N possibly damaging Het
Sult2a8 C T 7: 14,150,183 (GRCm39) R176K probably benign Het
Usp34 T A 11: 23,320,291 (GRCm39) N888K probably damaging Het
Vmn1r4 A C 6: 56,934,135 (GRCm39) H213P possibly damaging Het
Wdr45b G T 11: 121,219,639 (GRCm39) T303K probably benign Het
Other mutations in Hbb-bt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01977:Hbb-bt APN 7 103,463,070 (GRCm39) missense probably benign 0.15
R1720:Hbb-bt UTSW 7 103,463,083 (GRCm39) start gained probably benign
Z1176:Hbb-bt UTSW 7 103,463,099 (GRCm39) start gained probably benign
Z1177:Hbb-bt UTSW 7 103,462,796 (GRCm39) missense possibly damaging 0.56
Posted On 2015-04-16