Incidental Mutation 'IGL03339:Hbb-y'
ID417148
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hbb-y
Ensembl Gene ENSMUSG00000052187
Gene Namehemoglobin Y, beta-like embryonic chain
SynonymsEy, epsilon Y globin, Hby
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03339
Quality Score
Status
Chromosome7
Chromosomal Location103851749-103853216 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103852769 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 98 (H98Q)
Ref Sequence ENSEMBL: ENSMUSP00000033229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033229]
Predicted Effect probably damaging
Transcript: ENSMUST00000033229
AA Change: H98Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033229
Gene: ENSMUSG00000052187
AA Change: H98Q

DomainStartEndE-ValueType
Pfam:Globin 8 112 9e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124800
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,442,456 E323G probably damaging Het
A4gnt T C 9: 99,620,548 S254P probably damaging Het
Actn4 A G 7: 28,901,982 L447P probably damaging Het
Agbl2 C A 2: 90,797,563 S237R probably damaging Het
Apc G A 18: 34,298,474 D309N probably damaging Het
Arhgef3 A G 14: 27,401,857 M492V probably damaging Het
Atp10b T A 11: 43,230,615 M1035K probably null Het
Cfap69 T A 5: 5,586,436 probably benign Het
Ctf1 A G 7: 127,713,994 N24S probably benign Het
Cx3cr1 T A 9: 120,051,437 K300* probably null Het
Ddx25 A T 9: 35,542,003 Y484N probably damaging Het
Eif4g1 A G 16: 20,680,984 E506G possibly damaging Het
Ficd G T 5: 113,738,739 R325L probably benign Het
G6pc2 A G 2: 69,220,895 probably benign Het
Gm11168 C A 9: 3,004,767 P103T probably benign Het
Hmcn1 A G 1: 150,701,969 S2014P probably benign Het
Hoxc5 T C 15: 103,014,136 Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 probably benign Het
Ighg2c A C 12: 113,287,994 V171G unknown Het
Kctd13 A G 7: 126,945,018 D296G probably benign Het
Mfsd2b A C 12: 4,874,335 M1R probably null Het
Nipbl A G 15: 8,350,876 S811P probably benign Het
Olfr118 G A 17: 37,672,557 C178Y possibly damaging Het
Olfr119 G T 17: 37,700,791 M40I probably damaging Het
Olfr1484 T G 19: 13,586,075 M257R probably damaging Het
Olfr569 G A 7: 102,887,782 R124C probably benign Het
Pcolce2 T C 9: 95,678,340 probably benign Het
Pik3c2a G T 7: 116,418,021 T167K possibly damaging Het
Ppp1r18 A G 17: 35,868,046 D271G probably benign Het
Rnf213 T C 11: 119,443,004 I3013T probably damaging Het
Rock1 A T 18: 10,097,493 M765K probably benign Het
Sec16a T C 2: 26,435,933 Y1244C probably benign Het
Taar7d T C 10: 24,027,306 C29R possibly damaging Het
Tmem56 C T 3: 121,228,840 probably benign Het
Ttn A C 2: 76,741,920 F26210V probably damaging Het
Ube2b A T 11: 51,986,707 V145D probably damaging Het
Vmn1r219 T G 13: 23,163,410 S256R possibly damaging Het
Other mutations in Hbb-y
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02651:Hbb-y APN 7 103852750 missense probably benign 0.21
R0090:Hbb-y UTSW 7 103852743 splice site probably null
R7797:Hbb-y UTSW 7 103851881 missense probably damaging 1.00
Posted On2016-08-02