Incidental Mutation 'R7797:Hbb-y'
ID 600284
Institutional Source Beutler Lab
Gene Symbol Hbb-y
Ensembl Gene ENSMUSG00000052187
Gene Name hemoglobin Y, beta-like embryonic chain
Synonyms Hby, Ey, epsilon Y globin
MMRRC Submission 045853-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7797 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103500961-103502414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103501088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 146 (Y146F)
Ref Sequence ENSEMBL: ENSMUSP00000033229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033229]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033229
AA Change: Y146F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033229
Gene: ENSMUSG00000052187
AA Change: Y146F

DomainStartEndE-ValueType
Pfam:Globin 8 112 9e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (68/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,862,509 (GRCm39) probably null Het
Adam3 T G 8: 25,184,660 (GRCm39) N535T probably damaging Het
Adam34l T A 8: 44,079,411 (GRCm39) E271V probably benign Het
Adamts4 A G 1: 171,085,387 (GRCm39) K679E probably damaging Het
Arnt G A 3: 95,387,572 (GRCm39) probably null Het
Asah2 A G 19: 31,999,761 (GRCm39) F321L probably damaging Het
Asb15 T C 6: 24,562,505 (GRCm39) S156P probably damaging Het
Baiap2l1 A C 5: 144,255,760 (GRCm39) S65A probably damaging Het
Bend7 T G 2: 4,754,455 (GRCm39) M186R probably damaging Het
Blnk T C 19: 40,948,232 (GRCm39) K146E possibly damaging Het
Cd19 A G 7: 126,012,680 (GRCm39) W238R probably damaging Het
Cd44 T A 2: 102,679,079 (GRCm39) N241I probably benign Het
Cdh23 T C 10: 60,220,973 (GRCm39) E1257G probably benign Het
Cfap300 G T 9: 8,027,130 (GRCm39) P136Q possibly damaging Het
Cntnap5c T C 17: 58,666,270 (GRCm39) V1100A probably benign Het
Cul7 T C 17: 46,969,568 (GRCm39) V945A possibly damaging Het
Dock2 C T 11: 34,232,652 (GRCm39) C1116Y probably damaging Het
Ehbp1 T C 11: 22,046,109 (GRCm39) M547V possibly damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Grhl3 C G 4: 135,286,416 (GRCm39) K88N possibly damaging Het
Hivep2 T C 10: 14,005,847 (GRCm39) V815A probably benign Het
Hoxa7 T A 6: 52,192,870 (GRCm39) I173F probably damaging Het
Igkv1-110 T G 6: 68,247,977 (GRCm39) S29A probably benign Het
Jade2 A G 11: 51,708,126 (GRCm39) S696P probably benign Het
Kif1b T A 4: 149,321,844 (GRCm39) Q1025L probably benign Het
Kif2c A T 4: 117,028,940 (GRCm39) C241S probably benign Het
Kmt2d G T 15: 98,762,287 (GRCm39) H400N probably benign Het
Krt35 T A 11: 99,985,713 (GRCm39) N174Y probably damaging Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Magi3 A G 3: 103,958,618 (GRCm39) V489A probably damaging Het
Mapk7 T C 11: 61,380,241 (GRCm39) E739G possibly damaging Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Mdga1 C T 17: 30,061,814 (GRCm39) probably null Het
Megf8 G A 7: 25,034,022 (GRCm39) R607H probably damaging Het
Met T A 6: 17,533,952 (GRCm39) N634K probably damaging Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Mmp11 G T 10: 75,759,314 (GRCm39) T107K Het
Mroh2b A C 15: 4,978,587 (GRCm39) N1378H probably benign Het
Naa15 G A 3: 51,356,031 (GRCm39) C322Y probably damaging Het
Naip1 T A 13: 100,580,986 (GRCm39) Y87F probably damaging Het
Ngrn A G 7: 79,914,185 (GRCm39) D112G probably benign Het
Osbpl1a C A 18: 13,015,321 (GRCm39) C369F probably damaging Het
Pcnx2 G C 8: 126,512,087 (GRCm39) D1406E possibly damaging Het
Phf8-ps T C 17: 33,286,664 (GRCm39) D46G probably damaging Het
Pold1 G A 7: 44,191,213 (GRCm39) P206L probably benign Het
Psen1 A G 12: 83,746,396 (GRCm39) S20G probably benign Het
Ptpn23 C T 9: 110,222,875 (GRCm39) D61N possibly damaging Het
Rbfox3 A T 11: 118,387,310 (GRCm39) L268Q possibly damaging Het
Rbm22 A G 18: 60,694,344 (GRCm39) T26A probably damaging Het
Rpgrip1 G A 14: 52,371,277 (GRCm39) R332Q possibly damaging Het
Rrm2b A T 15: 37,927,505 (GRCm39) L347* probably null Het
Rsf1 A T 7: 97,310,692 (GRCm39) D474V Het
Ryr2 C T 13: 11,816,066 (GRCm39) R640Q probably damaging Het
Sec16b A G 1: 157,389,245 (GRCm39) E691G unknown Het
Septin1 A T 7: 126,813,937 (GRCm39) V365E unknown Het
Tlk2 A G 11: 105,101,444 (GRCm39) H114R probably benign Het
Tmem200a A G 10: 25,869,864 (GRCm39) I135T possibly damaging Het
Tpst2 T A 5: 112,455,782 (GRCm39) V107E probably damaging Het
Trim30a A T 7: 104,060,407 (GRCm39) D456E possibly damaging Het
Ttll3 T C 6: 113,371,738 (GRCm39) V45A possibly damaging Het
Ulk2 A G 11: 61,672,928 (GRCm39) Y889H probably benign Het
Umodl1 A G 17: 31,178,125 (GRCm39) S34G probably benign Het
Vmn1r67 A G 7: 10,180,903 (GRCm39) I56V probably benign Het
Vmn2r120 C T 17: 57,815,874 (GRCm39) G827E probably damaging Het
Zc3h6 T C 2: 128,857,555 (GRCm39) probably null Het
Other mutations in Hbb-y
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02651:Hbb-y APN 7 103,501,957 (GRCm39) missense probably benign 0.21
IGL03339:Hbb-y APN 7 103,501,976 (GRCm39) missense probably damaging 1.00
R0090:Hbb-y UTSW 7 103,501,950 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ATGCCTGAGTCTTCCTGTGC -3'
(R):5'- ATGATTGAGGAAGCTTTGATGC -3'

Sequencing Primer
(F):5'- GTGCTTCCCCCTTTCCAAAAAC -3'
(R):5'- GAGGAAGCTTTGATGCTGAATG -3'
Posted On 2019-11-26