Incidental Mutation 'IGL01523:Hbb-bh1'
ID 89479
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hbb-bh1
Ensembl Gene ENSMUSG00000052217
Gene Name hemoglobin Z, beta-like embryonic chain
Synonyms betaH1, beta Hl globin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01523
Quality Score
Status
Chromosome 7
Chromosomal Location 103490845-103492369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103491024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 127 (V127M)
Ref Sequence ENSEMBL: ENSMUSP00000064865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063957] [ENSMUST00000106866]
AlphaFold P04444
Predicted Effect probably benign
Transcript: ENSMUST00000063957
AA Change: V127M

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000064865
Gene: ENSMUSG00000052217
AA Change: V127M

DomainStartEndE-ValueType
Pfam:Globin 8 112 4.2e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106866
SMART Domains Protein: ENSMUSP00000102479
Gene: ENSMUSG00000078621

DomainStartEndE-ValueType
Pfam:Globin 8 112 1.9e-25 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice with disruptions in this gene are grossly normal and viable through adulthood. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,867,320 (GRCm39) E246G probably damaging Het
B3galt5 T A 16: 96,117,091 (GRCm39) D241E probably damaging Het
Camta1 A G 4: 151,229,507 (GRCm39) F442L possibly damaging Het
Cntnap5b A T 1: 100,359,504 (GRCm39) E709V probably benign Het
Ctnnal1 T C 4: 56,835,243 (GRCm39) I345V probably damaging Het
Evpl T C 11: 116,124,270 (GRCm39) N183S probably damaging Het
Fam90a1b T C X: 93,400,365 (GRCm39) D155G probably benign Het
Fsip2 G A 2: 82,807,863 (GRCm39) S1394N probably benign Het
Gcnt2 A T 13: 41,041,339 (GRCm39) Q166L probably benign Het
Gpatch1 T C 7: 35,007,763 (GRCm39) D99G probably null Het
Grin2b A T 6: 136,021,263 (GRCm39) W13R probably null Het
Hc C T 2: 34,929,250 (GRCm39) M282I probably benign Het
Hirip3 A G 7: 126,461,876 (GRCm39) E57G probably damaging Het
Inpp5j C T 11: 3,445,932 (GRCm39) probably null Het
Krt84 A T 15: 101,437,179 (GRCm39) V328E probably damaging Het
Lrriq1 C A 10: 103,053,977 (GRCm39) E247* probably null Het
Mmrn2 T A 14: 34,125,174 (GRCm39) F918L probably damaging Het
Myh13 A G 11: 67,238,769 (GRCm39) E704G possibly damaging Het
Myo16 T A 8: 10,420,908 (GRCm39) N249K probably damaging Het
Nobox C A 6: 43,281,057 (GRCm39) K472N probably damaging Het
Or1j1 T A 2: 36,702,415 (GRCm39) T230S probably benign Het
Orc4 A T 2: 48,807,236 (GRCm39) S232T probably benign Het
Pign A T 1: 105,580,903 (GRCm39) Y159N probably damaging Het
Rere T A 4: 150,700,012 (GRCm39) V1032E possibly damaging Het
Ror2 T C 13: 53,272,999 (GRCm39) Q210R probably benign Het
Sh3tc2 G A 18: 62,123,954 (GRCm39) R905Q probably benign Het
Ttn A G 2: 76,785,327 (GRCm39) S683P possibly damaging Het
Other mutations in Hbb-bh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02229:Hbb-bh1 APN 7 103,492,032 (GRCm39) missense possibly damaging 0.77
IGL02251:Hbb-bh1 APN 7 103,492,017 (GRCm39) nonsense probably null
R2913:Hbb-bh1 UTSW 7 103,492,254 (GRCm39) missense possibly damaging 0.86
R5054:Hbb-bh1 UTSW 7 103,491,063 (GRCm39) missense probably benign
R6515:Hbb-bh1 UTSW 7 103,491,974 (GRCm39) missense probably damaging 0.99
R7286:Hbb-bh1 UTSW 7 103,492,238 (GRCm39) missense probably damaging 0.98
R9484:Hbb-bh1 UTSW 7 103,492,239 (GRCm39) missense probably benign 0.11
Posted On 2013-12-03