Incidental Mutation 'R4297:Hbb-bs'
ID 323389
Institutional Source Beutler Lab
Gene Symbol Hbb-bs
Ensembl Gene ENSMUSG00000052305
Gene Name hemoglobin, beta adult s chain
Synonyms beta s
MMRRC Submission 041085-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.259) question?
Stock # R4297 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103475730-103477135 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103475951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 122 (D122G)
Ref Sequence ENSEMBL: ENSMUSP00000023934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023934] [ENSMUST00000153218]
AlphaFold A8DUK4
Predicted Effect probably benign
Transcript: ENSMUST00000023934
AA Change: D122G

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023934
Gene: ENSMUSG00000052305
AA Change: D122G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Globin 8 103 3.8e-29 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 85% (33/39)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,258,154 (GRCm39) probably null Het
Alkbh3 C T 2: 93,838,469 (GRCm39) R34H probably benign Het
Cacna1e T G 1: 154,274,477 (GRCm39) S2143R probably benign Het
Camkk2 A G 5: 122,883,769 (GRCm39) probably null Het
Cep295 A G 9: 15,233,950 (GRCm39) V2282A probably benign Het
Cfap46 A C 7: 139,232,589 (GRCm39) D827E probably benign Het
Col5a1 T C 2: 27,907,216 (GRCm39) probably null Het
Col6a3 T A 1: 90,739,100 (GRCm39) E376V probably damaging Het
Creld2 T C 15: 88,707,956 (GRCm39) C232R probably damaging Het
Ctdp1 A T 18: 80,493,172 (GRCm39) V441E probably benign Het
Cyp2a4 A G 7: 26,006,793 (GRCm39) T51A probably damaging Het
Dgke A T 11: 88,941,556 (GRCm39) V273D probably damaging Het
Epcam T C 17: 87,947,962 (GRCm39) probably null Het
Fpr-rs3 A T 17: 20,845,008 (GRCm39) N44K probably damaging Het
Glipr1l1 A T 10: 111,898,252 (GRCm39) D119V probably benign Het
Gm6818 A T 7: 38,101,877 (GRCm39) noncoding transcript Het
Gprc5b G A 7: 118,583,437 (GRCm39) A144V possibly damaging Het
Gsto2 A C 19: 47,864,935 (GRCm39) E156A possibly damaging Het
Mc5r T C 18: 68,472,378 (GRCm39) F246L probably benign Het
Ncapd3 A G 9: 26,963,623 (GRCm39) N492S probably benign Het
Reln A C 5: 22,125,485 (GRCm39) C2733G probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc6a21 G A 7: 44,937,186 (GRCm39) V239M possibly damaging Het
St3gal2 T C 8: 111,688,991 (GRCm39) M177T probably benign Het
Ttn C A 2: 76,556,607 (GRCm39) G30133C probably damaging Het
Ugt1a8 T C 1: 88,015,826 (GRCm39) S80P probably benign Het
Vax1 G T 19: 59,154,683 (GRCm39) S318* probably null Het
Vcam1 A T 3: 115,910,892 (GRCm39) V502E probably benign Het
Vmn2r12 C A 5: 109,239,830 (GRCm39) M244I probably benign Het
Vps18 T A 2: 119,127,812 (GRCm39) C878* probably null Het
Wdr11 A G 7: 129,226,910 (GRCm39) R791G probably benign Het
Other mutations in Hbb-bs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02507:Hbb-bs APN 7 103,477,091 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CTTAGCATAAACCCTTCTATGACAC -3'
(R):5'- CTTTTATGCCAGGGTGACAGGG -3'

Sequencing Primer
(F):5'- ACATCATTGCAGTGAAATAAATGC -3'
(R):5'- GGTGACAGGGGAAGAATATATTTTAC -3'
Posted On 2015-06-20