Incidental Mutation 'IGL02229:Hbb-bh1'
ID285412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hbb-bh1
Ensembl Gene ENSMUSG00000052217
Gene Namehemoglobin Z, beta-like embryonic chain
Synonymsbeta Hl globin, betaH1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02229
Quality Score
Status
Chromosome7
Chromosomal Location103841637-103843164 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103842825 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 61 (I61F)
Ref Sequence ENSEMBL: ENSMUSP00000064865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063957] [ENSMUST00000106866]
Predicted Effect possibly damaging
Transcript: ENSMUST00000063957
AA Change: I61F

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064865
Gene: ENSMUSG00000052217
AA Change: I61F

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 63,898,353 D144G probably damaging Het
Adgrg1 G T 8: 95,003,511 D114Y probably damaging Het
Ago4 T A 4: 126,511,532 N416I probably benign Het
Aoc1 C T 6: 48,905,909 Q240* probably null Het
Atl1 G A 12: 69,926,025 V40I probably benign Het
Cdh2 T C 18: 16,624,753 I591V probably benign Het
Cic C A 7: 25,290,950 Q1959K probably damaging Het
Cmya5 C T 13: 93,092,686 E1965K possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspp1 T C 1: 10,083,556 S397P probably damaging Het
D130043K22Rik T C 13: 24,875,924 Y593H probably damaging Het
Dck A G 5: 88,774,105 Y142C probably damaging Het
Eea1 A T 10: 96,018,184 E568V probably damaging Het
Gabra3 A G X: 72,501,077 probably null Het
Gucy2f A G X: 142,179,988 S342P probably benign Het
Hook1 T C 4: 96,001,251 S235P possibly damaging Het
Hoxd12 G A 2: 74,675,934 R230H probably damaging Het
Iglc2 C T 16: 19,198,733 A41T probably benign Het
Il1r1 A G 1: 40,313,358 K566E probably damaging Het
Kcns3 A T 12: 11,092,092 M202K probably damaging Het
Krt7 C A 15: 101,427,616 A442D probably benign Het
Ltk C T 2: 119,758,573 R200H probably benign Het
Macf1 G T 4: 123,509,826 D582E probably damaging Het
Mbnl3 A T X: 51,139,341 Y69N probably damaging Het
Mpp1 T C X: 75,121,428 probably benign Het
Myo18b A G 5: 112,878,110 S25P unknown Het
Nsd3 A G 8: 25,710,748 N1289S probably damaging Het
Olfr26 T A 9: 38,855,416 M118K possibly damaging Het
Pacs2 A G 12: 113,056,800 probably benign Het
Rab3gap2 A G 1: 185,259,383 K689E possibly damaging Het
Sva T A 6: 42,042,222 C109S probably damaging Het
Taf3 T C 2: 9,952,834 N174S probably damaging Het
Tbc1d5 A T 17: 50,852,600 M393K probably damaging Het
Tmem242 A T 17: 5,411,407 S129T probably benign Het
Ttn A T 2: 76,871,169 probably benign Het
Other mutations in Hbb-bh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01523:Hbb-bh1 APN 7 103841817 missense probably benign 0.03
IGL02251:Hbb-bh1 APN 7 103842810 nonsense probably null
R2913:Hbb-bh1 UTSW 7 103843047 missense possibly damaging 0.86
R5054:Hbb-bh1 UTSW 7 103841856 missense probably benign
R6515:Hbb-bh1 UTSW 7 103842767 missense probably damaging 0.99
R7286:Hbb-bh1 UTSW 7 103843031 missense probably damaging 0.98
Posted On2015-04-16