Incidental Mutation 'IGL03120:Hbb-bs'
ID 409957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hbb-bs
Ensembl Gene ENSMUSG00000052305
Gene Name hemoglobin, beta adult s chain
Synonyms beta s
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # IGL03120
Quality Score
Chromosome 7
Chromosomal Location 103826534-103828096 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 103827778 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023934] [ENSMUST00000153218]
AlphaFold A8DUK4
Predicted Effect probably benign
Transcript: ENSMUST00000023934
SMART Domains Protein: ENSMUSP00000023934
Gene: ENSMUSG00000052305

Pfam:Globin 8 112 1.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118954
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
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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik A G 9: 122,949,053 L42P probably benign Het
4932415D10Rik A G 10: 82,285,035 V77A possibly damaging Het
Cacna1e T C 1: 154,443,881 I1420V probably damaging Het
Corin T C 5: 72,360,689 Y263C probably damaging Het
Cyp4f15 A T 17: 32,690,764 I112F probably damaging Het
Dach1 T C 14: 97,827,789 E724G probably damaging Het
Dip2b T C 15: 100,203,127 probably benign Het
Dnah2 T A 11: 69,421,848 E4297V probably damaging Het
Dot1l A G 10: 80,786,273 probably benign Het
Endod1 C A 9: 14,357,035 V385F probably damaging Het
Etnppl A G 3: 130,620,692 T73A probably damaging Het
Frmd4b T A 6: 97,396,245 D104V possibly damaging Het
Gm884 T C 11: 103,616,975 probably benign Het
Gp5 T C 16: 30,308,198 I553V possibly damaging Het
Gpc5 A G 14: 115,370,144 E386G possibly damaging Het
Klra2 T A 6: 131,220,217 Y273F probably benign Het
Msto1 A T 3: 88,910,809 V366E probably damaging Het
Mtcl1 A G 17: 66,379,383 S843P probably damaging Het
Nhsl2 A G X: 102,071,333 N97S probably benign Het
Npm2 C A 14: 70,652,599 probably benign Het
Npr2 C T 4: 43,643,133 R506C probably damaging Het
Olfr661 A T 7: 104,688,402 Y129F probably benign Het
Olr1 T C 6: 129,488,935 E36G probably damaging Het
Pcdhb19 A G 18: 37,498,156 I335V probably benign Het
Pla2g6 T C 15: 79,286,860 D772G probably damaging Het
Ppfibp1 C A 6: 146,998,169 D119E probably benign Het
Prdm9 T C 17: 15,544,931 N529S probably benign Het
Rnf20 T A 4: 49,649,955 probably benign Het
Tmem132c T A 5: 127,563,384 V873E probably benign Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Ttn T C 2: 76,927,084 probably null Het
Vmn2r54 A G 7: 12,615,387 I756T probably damaging Het
Other mutations in Hbb-bs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02507:Hbb-bs APN 7 103827884 splice site probably benign
R0219:Hbb-bs UTSW 7 103826669 missense possibly damaging 0.78
R2243:Hbb-bs UTSW 7 103827811 missense possibly damaging 0.51
R4297:Hbb-bs UTSW 7 103826744 missense probably benign 0.42
R4921:Hbb-bs UTSW 7 103826720 missense probably damaging 0.98
R5802:Hbb-bs UTSW 7 103826672 missense probably damaging 1.00
R6908:Hbb-bs UTSW 7 103827534 missense probably benign 0.00
R8350:Hbb-bs UTSW 7 103826744 missense probably benign 0.42
R8450:Hbb-bs UTSW 7 103826744 missense probably benign 0.42
R8509:Hbb-bs UTSW 7 103826712 nonsense probably null
Posted On 2016-08-02