Incidental Mutation 'R2913:Hbb-bh1'
ID 334564
Institutional Source Beutler Lab
Gene Symbol Hbb-bh1
Ensembl Gene ENSMUSG00000052217
Gene Name hemoglobin Z, beta-like embryonic chain
Synonyms betaH1, beta Hl globin
MMRRC Submission 040500-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2913 (G1)
Quality Score 73
Status Validated
Chromosome 7
Chromosomal Location 103490845-103492369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103492254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 22 (E22K)
Ref Sequence ENSEMBL: ENSMUSP00000064865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063957] [ENSMUST00000106866]
AlphaFold P04444
Predicted Effect possibly damaging
Transcript: ENSMUST00000063957
AA Change: E22K

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064865
Gene: ENSMUSG00000052217
AA Change: E22K

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
Meta Mutation Damage Score 0.2801 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (58/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,934,887 (GRCm39) Q357R probably damaging Het
Adap1 C T 5: 139,260,576 (GRCm39) probably null Het
Adgrf3 A G 5: 30,401,992 (GRCm39) S679P probably damaging Het
Aldh3b1 T C 19: 3,971,275 (GRCm39) probably benign Het
Arih2 A G 9: 108,521,275 (GRCm39) S68P probably damaging Het
Cdcp3 T C 7: 130,783,753 (GRCm39) S49P possibly damaging Het
Col1a2 C T 6: 4,519,923 (GRCm39) probably benign Het
Cplane1 T C 15: 8,300,169 (GRCm39) S3159P unknown Het
Crocc C T 4: 140,747,661 (GRCm39) R1496H probably damaging Het
Cryl1 T C 14: 57,513,375 (GRCm39) E282G probably benign Het
Cyp11b1 T C 15: 74,708,270 (GRCm39) T402A probably damaging Het
Etfa C A 9: 55,389,613 (GRCm39) A254S probably damaging Het
Fcgbpl1 A T 7: 27,863,732 (GRCm39) L2501F probably damaging Het
Fdxacb1 C T 9: 50,679,699 (GRCm39) A39V probably benign Het
Fras1 G A 5: 96,881,774 (GRCm39) R2502K probably benign Het
Gpr157 G A 4: 150,183,222 (GRCm39) V131I probably benign Het
Hmcn2 A G 2: 31,350,222 (GRCm39) T5040A possibly damaging Het
Hprt1 T C X: 52,109,016 (GRCm39) Y174H probably damaging Het
Igsf10 T A 3: 59,239,157 (GRCm39) L341F possibly damaging Het
Ints1 A G 5: 139,743,668 (GRCm39) S1592P possibly damaging Het
Itgam T C 7: 127,711,578 (GRCm39) I641T probably damaging Het
Macf1 T A 4: 123,369,704 (GRCm39) I121F probably damaging Het
Mapk3 T A 7: 126,359,978 (GRCm39) C19* probably null Het
Mapk4 C T 18: 74,068,236 (GRCm39) A232T probably benign Het
Med26 T G 8: 73,249,956 (GRCm39) K381T possibly damaging Het
Mki67 T C 7: 135,302,415 (GRCm39) E873G possibly damaging Het
Mrgpra9 T C 7: 46,884,828 (GRCm39) I280V probably benign Het
Mroh9 T C 1: 162,871,572 (GRCm39) Y637C probably damaging Het
Nktr T C 9: 121,578,670 (GRCm39) probably benign Het
Or4c11 A T 2: 88,695,458 (GRCm39) N170Y probably benign Het
Or5j3 A G 2: 86,128,733 (GRCm39) D191G probably damaging Het
Pam A C 1: 97,850,854 (GRCm39) L168R probably damaging Het
Pikfyve G A 1: 65,292,676 (GRCm39) V1376M probably damaging Het
Pomt2 A T 12: 87,175,743 (GRCm39) N400K probably damaging Het
Pramel13 T C 4: 144,119,304 (GRCm39) E421G probably damaging Het
Rbm45 C T 2: 76,205,798 (GRCm39) P217S probably benign Het
Rc3h2 A G 2: 37,268,971 (GRCm39) S832P possibly damaging Het
Ric3 A G 7: 108,653,660 (GRCm39) F144L possibly damaging Het
Rrh G T 3: 129,609,258 (GRCm39) A83E probably damaging Het
Rspo2 T A 15: 42,941,510 (GRCm39) T138S probably benign Het
Skint5 A G 4: 113,381,289 (GRCm39) probably benign Het
Snx29 C T 16: 11,265,317 (GRCm39) R516W probably damaging Het
Spata31d1d T C 13: 59,874,769 (GRCm39) E922G possibly damaging Het
Spc25 T C 2: 69,030,331 (GRCm39) H104R probably benign Het
Sptssa A T 12: 54,703,267 (GRCm39) M1K probably null Het
Srrm2 G T 17: 24,034,658 (GRCm39) probably benign Het
Tcof1 T C 18: 60,949,156 (GRCm39) D1253G possibly damaging Het
Tmem181c-ps A G 17: 6,888,608 (GRCm39) noncoding transcript Het
Tmprss15 T C 16: 78,759,078 (GRCm39) N880S probably benign Het
Trio T A 15: 27,854,998 (GRCm39) Q728L probably damaging Het
Txk T C 5: 72,881,794 (GRCm39) N154S probably damaging Het
Vwf T A 6: 125,662,809 (GRCm39) V2731E probably benign Het
Yes1 T C 5: 32,797,926 (GRCm39) S82P probably benign Het
Zgrf1 T C 3: 127,392,356 (GRCm39) V1292A possibly damaging Het
Other mutations in Hbb-bh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01523:Hbb-bh1 APN 7 103,491,024 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- CAGCACTTTCTTGCCATGGG -3'
(R):5'- CCAATAGCCTCAGAGTCCTG -3'

Sequencing Primer
(F):5'- CAGAAGAGAGGTTTCCAAACTTGTC -3'
(R):5'- TCAGAGTCCTGGGGAGGG -3'
Posted On 2015-09-02