Incidental Mutation 'IGL02507:Hbb-bs'
ID 296409
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? Possibly non essential (E-score: 0.256) question?
Stock # IGL02507
Quality Score
Status
Chromosome 7
Chromosomal Location 103475730-103477135 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 103477091 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,349,388 (GRCm39) Y3654C probably damaging Het
Aldh1l2 A C 10: 83,328,448 (GRCm39) Y756* probably null Het
Arhgef12 T C 9: 42,903,859 (GRCm39) E733G probably damaging Het
Art5 A T 7: 101,748,699 (GRCm39) M1K probably null Het
Atp1a2 A T 1: 172,113,338 (GRCm39) D448E probably damaging Het
Atp6v1b1 C T 6: 83,733,837 (GRCm39) T356I possibly damaging Het
Celsr1 A G 15: 85,784,889 (GRCm39) probably benign Het
Cep89 A G 7: 35,134,990 (GRCm39) Y686C probably damaging Het
Cgrrf1 T A 14: 47,090,901 (GRCm39) Y212* probably null Het
Chrnb1 T C 11: 69,675,916 (GRCm39) Y442C probably damaging Het
Clcn1 T C 6: 42,284,007 (GRCm39) probably benign Het
Clcn7 G A 17: 25,363,443 (GRCm39) V40M probably damaging Het
Cntn1 A G 15: 92,148,860 (GRCm39) Y369C possibly damaging Het
Csmd1 T C 8: 17,584,992 (GRCm39) probably benign Het
Dpy19l2 A T 9: 24,542,563 (GRCm39) C446S probably benign Het
Edem3 G A 1: 151,687,407 (GRCm39) E782K probably benign Het
Efcab15 T A 11: 103,090,275 (GRCm39) Q287L probably damaging Het
Ephb3 T A 16: 21,039,389 (GRCm39) probably benign Het
Fndc4 T C 5: 31,452,090 (GRCm39) D109G probably damaging Het
Fras1 T C 5: 96,805,267 (GRCm39) V1303A possibly damaging Het
Gcn1 T C 5: 115,723,940 (GRCm39) L532P probably benign Het
Gm5150 A G 3: 16,017,485 (GRCm39) L262P probably damaging Het
Krt74 A G 15: 101,669,059 (GRCm39) noncoding transcript Het
Myo1a T C 10: 127,548,478 (GRCm39) V375A probably damaging Het
Nup160 A T 2: 90,560,079 (GRCm39) Q1268L probably benign Het
Or4k42 G A 2: 111,319,768 (GRCm39) T245M possibly damaging Het
Or51ag1 G T 7: 103,155,925 (GRCm39) S76* probably null Het
Or5d16 G A 2: 87,773,262 (GRCm39) R237* probably null Het
Or9s27 T C 1: 92,516,648 (GRCm39) S199P possibly damaging Het
Pan3 T C 5: 147,463,406 (GRCm39) S497P probably damaging Het
Pex5 T C 6: 124,390,264 (GRCm39) T138A probably benign Het
Pik3ap1 A G 19: 41,270,451 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,627,764 (GRCm39) H75L possibly damaging Het
Rag2 A T 2: 101,461,055 (GRCm39) H455L probably damaging Het
Rergl T A 6: 139,470,351 (GRCm39) E159V probably damaging Het
Rrn3 A G 16: 13,606,721 (GRCm39) N109S probably benign Het
Scn1a A T 2: 66,108,157 (GRCm39) V1523D probably damaging Het
Sec23a A G 12: 59,053,884 (GRCm39) V38A probably benign Het
Slc15a2 G A 16: 36,602,021 (GRCm39) T92M possibly damaging Het
Slc2a2 A G 3: 28,781,260 (GRCm39) T433A probably benign Het
Sptan1 A G 2: 29,906,067 (GRCm39) D1671G probably damaging Het
Stab1 A G 14: 30,861,167 (GRCm39) probably benign Het
Stau2 A T 1: 16,556,293 (GRCm39) I22N possibly damaging Het
Strn3 A T 12: 51,708,410 (GRCm39) Y123* probably null Het
Tmem205 A G 9: 21,837,607 (GRCm39) V13A possibly damaging Het
Trub1 G A 19: 57,472,009 (GRCm39) probably benign Het
Ttn A G 2: 76,568,699 (GRCm39) V27398A possibly damaging Het
Vill A G 9: 118,899,845 (GRCm39) E343G possibly damaging Het
Zgpat T C 2: 181,008,029 (GRCm39) F189L probably damaging Het
Other mutations in Hbb-bs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03120:Hbb-bs APN 7 103,476,985 (GRCm39) splice site probably benign
R0219:Hbb-bs UTSW 7 103,475,876 (GRCm39) missense possibly damaging 0.78
R2243:Hbb-bs UTSW 7 103,477,018 (GRCm39) missense possibly damaging 0.51
R4297:Hbb-bs UTSW 7 103,475,951 (GRCm39) missense probably benign 0.42
R4921:Hbb-bs UTSW 7 103,475,927 (GRCm39) missense probably damaging 0.98
R5802:Hbb-bs UTSW 7 103,475,879 (GRCm39) missense probably damaging 1.00
R6908:Hbb-bs UTSW 7 103,476,741 (GRCm39) missense probably benign 0.00
R8350:Hbb-bs UTSW 7 103,475,951 (GRCm39) missense probably benign 0.42
R8450:Hbb-bs UTSW 7 103,475,951 (GRCm39) missense probably benign 0.42
R8509:Hbb-bs UTSW 7 103,475,919 (GRCm39) nonsense probably null
Posted On 2015-04-16