Incidental Mutation 'R5802:Hbb-bs'
ID 448784
Institutional Source Beutler Lab
Gene Symbol Hbb-bs
Ensembl Gene ENSMUSG00000052305
Gene Name hemoglobin, beta adult s chain
Synonyms beta s
MMRRC Submission 043391-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # R5802 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103826534-103828096 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103826672 bp (GRCm38)
Zygosity Heterozygous
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]
AlphaFold A8DUK4
Predicted Effect probably damaging
Transcript: ENSMUST00000023934
AA Change: Y146C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023934
Gene: ENSMUSG00000052305
AA Change: Y146C

Pfam:Globin 8 112 1.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131960
Predicted Effect probably benign
Transcript: ENSMUST00000153218
SMART Domains Protein: ENSMUSP00000115607
Gene: ENSMUSG00000052305

Pfam:Globin 8 103 3.8e-29 PFAM
Meta Mutation Damage Score 0.8627 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,950,964 (GRCm38) D383V probably damaging Het
AAdacl4fm3 T A 4: 144,703,636 (GRCm38) D261V probably damaging Het
Abca4 A T 3: 122,054,232 (GRCm38) L67F probably damaging Het
Abcc9 C A 6: 142,656,676 (GRCm38) probably null Het
Atp2a3 T C 11: 72,972,882 (GRCm38) V175A probably damaging Het
B3galt4 T A 17: 33,950,757 (GRCm38) D169V probably damaging Het
Bsn C T 9: 108,113,009 (GRCm38) R1848Q possibly damaging Het
Camkk2 T C 5: 122,734,244 (GRCm38) E90G probably damaging Het
Cdon T A 9: 35,454,420 (GRCm38) I155N probably damaging Het
Cep70 A G 9: 99,296,405 (GRCm38) N519D probably damaging Het
Clgn T C 8: 83,425,614 (GRCm38) S582P probably damaging Het
Cnga3 T C 1: 37,260,925 (GRCm38) F280S probably damaging Het
Dennd4c C T 4: 86,811,453 (GRCm38) T764M probably benign Het
Dis3 A T 14: 99,099,664 (GRCm38) S4T probably damaging Het
Dlgap1 T C 17: 70,766,091 (GRCm38) probably null Het
Dnah17 C T 11: 118,036,446 (GRCm38) V3839I possibly damaging Het
Dnajc1 A G 2: 18,284,739 (GRCm38) Y286H probably benign Het
Dynap T A 18: 70,241,002 (GRCm38) D151V unknown Het
Ednrb A G 14: 103,821,714 (GRCm38) F292S probably damaging Het
Eef1a1 A G 9: 78,479,036 (GRCm38) S396P probably damaging Het
Fancg A G 4: 43,006,582 (GRCm38) F324S probably benign Het
Fbxw11 T A 11: 32,711,790 (GRCm38) S56T probably benign Het
Gm17535 G C 9: 3,035,758 (GRCm38) V209L probably benign Homo
Gm5592 C T 7: 41,219,105 (GRCm38) probably benign Het
Gm7030 A G 17: 36,111,287 (GRCm38) probably benign Het
Gpr137 C T 19: 6,942,005 (GRCm38) W51* probably null Het
Herc1 G T 9: 66,462,878 (GRCm38) C2982F probably damaging Het
Hnrnpa3 T A 2: 75,665,056 (GRCm38) N309K unknown Het
Hydin A T 8: 110,452,060 (GRCm38) I1096F possibly damaging Het
Klf12 A G 14: 100,022,894 (GRCm38) V133A probably benign Het
Lats2 A T 14: 57,694,418 (GRCm38) Y848N probably damaging Het
Loxl3 A G 6: 83,049,289 (GRCm38) T453A possibly damaging Het
Ltn1 T G 16: 87,415,681 (GRCm38) H664P probably benign Het
Lypd6 C T 2: 50,173,601 (GRCm38) T40I probably benign Het
Nbeal1 A T 1: 60,272,221 (GRCm38) T1817S probably benign Het
Nub1 A C 5: 24,702,441 (GRCm38) Y350S possibly damaging Het
Pbp2 A G 6: 135,309,876 (GRCm38) Y158H possibly damaging Het
Ptpru C T 4: 131,788,377 (GRCm38) E827K possibly damaging Het
Rap1a A G 3: 105,745,936 (GRCm38) Y32H probably damaging Het
Raph1 T C 1: 60,488,673 (GRCm38) N1143S possibly damaging Het
Rbl1 T C 2: 157,161,433 (GRCm38) T859A probably benign Het
Rom1 A G 19: 8,928,824 (GRCm38) L117P probably damaging Het
Senp6 T C 9: 80,118,644 (GRCm38) probably benign Het
Sirpb1c T C 3: 15,832,076 (GRCm38) M379V probably benign Het
Slc6a4 C T 11: 77,019,236 (GRCm38) T439M probably damaging Het
Srsf12 G T 4: 33,230,929 (GRCm38) R141L probably damaging Het
Stk10 C T 11: 32,596,748 (GRCm38) P335L probably benign Het
Tcstv2c G A 13: 120,154,913 (GRCm38) S96N possibly damaging Het
Tecpr1 A T 5: 144,206,546 (GRCm38) N670K probably benign Het
Tgds T C 14: 118,132,707 (GRCm38) E8G probably benign Het
Tmem129 A G 5: 33,657,716 (GRCm38) S38P probably damaging Het
Trappc9 T C 15: 72,685,339 (GRCm38) E812G probably damaging Het
Trmt10b T A 4: 45,314,236 (GRCm38) probably benign Het
Wapl A G 14: 34,692,320 (GRCm38) T380A probably damaging Het
Xylt1 A T 7: 117,656,691 (GRCm38) T829S probably benign Het
Zc3h6 C T 2: 129,015,559 (GRCm38) P666L possibly damaging Het
Zfp1010 T C 2: 177,265,256 (GRCm38) T150A possibly damaging Het
Zfp703 C T 8: 26,979,205 (GRCm38) P299L probably damaging Het
Other mutations in Hbb-bs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02507:Hbb-bs APN 7 103,827,884 (GRCm38) splice site probably benign
IGL03120:Hbb-bs APN 7 103,827,778 (GRCm38) splice site probably benign
R0219:Hbb-bs UTSW 7 103,826,669 (GRCm38) missense possibly damaging 0.78
R2243:Hbb-bs UTSW 7 103,827,811 (GRCm38) missense possibly damaging 0.51
R4297:Hbb-bs UTSW 7 103,826,744 (GRCm38) missense probably benign 0.42
R4921:Hbb-bs UTSW 7 103,826,720 (GRCm38) missense probably damaging 0.98
R6908:Hbb-bs UTSW 7 103,827,534 (GRCm38) missense probably benign 0.00
R8350:Hbb-bs UTSW 7 103,826,744 (GRCm38) missense probably benign 0.42
R8450:Hbb-bs UTSW 7 103,826,744 (GRCm38) missense probably benign 0.42
R8509:Hbb-bs UTSW 7 103,826,712 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-12-15