Incidental Mutation 'IGL01977:Hbb-bt'
ID 181711
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 # IGL01977
Quality Score
Status
Chromosome 7
Chromosomal Location 103461731-103463130 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 103463070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 3 (H3N)
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
AA Change: H3N

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000095794
Gene: ENSMUSG00000073940
AA Change: H3N

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,841,986 (GRCm39) S1040T probably benign Het
Adam25 T C 8: 41,208,134 (GRCm39) Y467H probably benign Het
Ank1 A G 8: 23,605,449 (GRCm39) I1061V probably benign Het
Anxa10 T C 8: 62,529,348 (GRCm39) E123G probably damaging Het
Arhgap35 G A 7: 16,297,128 (GRCm39) L646F probably damaging Het
Atp8b5 A G 4: 43,320,590 (GRCm39) probably null Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Carmil3 A G 14: 55,730,993 (GRCm39) T87A probably damaging Het
Ccdc172 A G 19: 58,541,309 (GRCm39) D256G possibly damaging Het
Cep350 C T 1: 155,787,714 (GRCm39) A1375T probably benign Het
Chrdl2 A T 7: 99,671,263 (GRCm39) Q127L probably benign Het
Cyp2c29 T C 19: 39,279,341 (GRCm39) probably benign Het
Ddi1 C A 9: 6,266,226 (GRCm39) V48F probably benign Het
Ddrgk1 C T 2: 130,497,166 (GRCm39) probably benign Het
Fastkd1 C T 2: 69,524,932 (GRCm39) V626I possibly damaging Het
Fgd5 A G 6: 92,001,543 (GRCm39) T755A probably benign Het
Fpgt G T 3: 154,793,655 (GRCm39) T124K probably damaging Het
Gnl2 G A 4: 124,941,405 (GRCm39) probably null Het
Got1 A T 19: 43,504,284 (GRCm39) S46T probably benign Het
Ikbke C T 1: 131,199,838 (GRCm39) probably benign Het
Il2rb A G 15: 78,365,897 (GRCm39) S467P probably benign Het
Kcnma1 A G 14: 23,580,367 (GRCm39) probably benign Het
Ltbp2 T C 12: 84,876,973 (GRCm39) N391D probably damaging Het
Npr3 A T 15: 11,858,804 (GRCm39) I360N probably damaging Het
Nradd G A 9: 110,451,237 (GRCm39) P44S possibly damaging Het
Or5m10 G T 2: 85,717,711 (GRCm39) C189F probably damaging Het
Or7h8 G A 9: 20,123,755 (GRCm39) V37I possibly damaging Het
Pcdh17 A G 14: 84,770,537 (GRCm39) E1005G possibly damaging Het
Pcdhb11 A G 18: 37,555,344 (GRCm39) T225A possibly damaging Het
Pja2 T C 17: 64,604,821 (GRCm39) D454G probably benign Het
Pon3 T C 6: 5,221,670 (GRCm39) Y320C probably damaging Het
Prl2a1 A G 13: 27,990,261 (GRCm39) D70G probably damaging Het
Proc T A 18: 32,260,472 (GRCm39) T218S probably benign Het
Proz G T 8: 13,116,913 (GRCm39) G155V probably damaging Het
Rab11fip3 T C 17: 26,286,977 (GRCm39) E392G possibly damaging Het
Rab3gap2 C T 1: 184,999,220 (GRCm39) R976* probably null Het
Shisa2 G A 14: 59,867,435 (GRCm39) C229Y probably damaging Het
Slc2a5 T C 4: 150,226,675 (GRCm39) V379A probably damaging Het
Slc31a2 A T 4: 62,214,197 (GRCm39) K47N probably damaging Het
Sult2a6 G A 7: 13,987,411 (GRCm39) T88I probably benign Het
Tbc1d14 T C 5: 36,662,381 (GRCm39) Y302C probably damaging Het
Thumpd3 C A 6: 113,036,927 (GRCm39) N275K possibly damaging Het
Tnks2 T C 19: 36,849,990 (GRCm39) probably null Het
Tube1 G A 10: 39,011,041 (GRCm39) probably benign Het
Umodl1 T A 17: 31,192,742 (GRCm39) Y290N probably damaging Het
Usp34 G A 11: 23,402,661 (GRCm39) E726K probably damaging Het
Vmn2r84 T A 10: 130,229,935 (GRCm39) D59V probably benign Het
Vps11 T A 9: 44,267,516 (GRCm39) probably benign Het
Wdr19 T C 5: 65,385,912 (GRCm39) Y631H probably benign Het
Wdr62 G A 7: 29,957,526 (GRCm39) H88Y probably damaging Het
Wdr93 A T 7: 79,402,253 (GRCm39) N184I probably damaging Het
Wnk4 T A 11: 101,156,240 (GRCm39) F473Y probably damaging Het
Zbtb16 A G 9: 48,568,483 (GRCm39) W661R probably damaging Het
Other mutations in Hbb-bt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02532:Hbb-bt APN 7 103,463,081 (GRCm39) utr 5 prime probably benign
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 2014-05-07