Incidental Mutation 'R6515:Hbb-bh1'
ID 520603
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 044642-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6515 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103490845-103492369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103491974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 80 (D80G)
Ref Sequence ENSEMBL: ENSMUSP00000064865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063957] [ENSMUST00000106866]
AlphaFold P04444
Predicted Effect probably damaging
Transcript: ENSMUST00000063957
AA Change: D80G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064865
Gene: ENSMUSG00000052217
AA Change: D80G

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 0.6184 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (41/41)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1s3 T C 1: 79,592,044 (GRCm39) D102G probably damaging Het
Apcdd1 T A 18: 63,084,910 (GRCm39) M369K probably damaging Het
Atp4a A G 7: 30,411,903 (GRCm39) K46R possibly damaging Het
Bcl9l A G 9: 44,419,171 (GRCm39) probably null Het
Cabyr A G 18: 12,887,340 (GRCm39) S324G possibly damaging Het
Casp8ap2 A G 4: 32,646,423 (GRCm39) D1832G possibly damaging Het
Cdk4 C T 10: 126,902,052 (GRCm39) P256S probably null Het
Cnot6l C A 5: 96,309,537 (GRCm39) probably benign Het
Cox17 C A 16: 38,167,557 (GRCm39) A32E probably damaging Het
Cyp27b1 G T 10: 126,884,119 (GRCm39) probably benign Het
Enpp2 T A 15: 54,723,489 (GRCm39) N628I possibly damaging Het
Ggcx T C 6: 72,402,815 (GRCm39) C258R probably benign Het
Hoxb5 A T 11: 96,195,908 (GRCm39) D252V probably damaging Het
Hspa4l A G 3: 40,736,014 (GRCm39) D545G possibly damaging Het
Hspa5 T A 2: 34,662,416 (GRCm39) V28E probably benign Het
Ifit1bl1 T C 19: 34,571,899 (GRCm39) Y186C probably damaging Het
Itpr3 C T 17: 27,310,344 (GRCm39) A403V probably benign Het
Kif19b T C 5: 140,480,779 (GRCm39) S970P possibly damaging Het
Klra17 A T 6: 129,808,462 (GRCm39) I257N probably damaging Het
Megf6 C T 4: 154,343,376 (GRCm39) H662Y possibly damaging Het
Mfsd6 T C 1: 52,700,120 (GRCm39) K676R probably damaging Het
Nutm1 A C 2: 112,086,665 (GRCm39) L22R probably benign Het
Oas1f T C 5: 120,986,497 (GRCm39) V150A probably damaging Het
Or10ak13 T C 4: 118,639,467 (GRCm39) Y105C probably benign Het
Or4f62 T C 2: 111,986,710 (GRCm39) L138P probably benign Het
Pik3ap1 A G 19: 41,364,585 (GRCm39) Y45H probably benign Het
Pnlip T C 19: 58,661,547 (GRCm39) S79P probably damaging Het
Ppfia3 T C 7: 44,989,657 (GRCm39) D1185G possibly damaging Het
Pphln1-ps1 G A 16: 13,494,820 (GRCm39) probably benign Het
Rbm34 A T 8: 127,688,682 (GRCm39) S217T possibly damaging Het
Rbm44 T C 1: 91,092,860 (GRCm39) I820T probably damaging Het
Rnf151 A T 17: 24,935,391 (GRCm39) L180Q probably benign Het
Sec24d G A 3: 123,136,719 (GRCm39) R484Q possibly damaging Het
Spop C A 11: 95,376,761 (GRCm39) D271E possibly damaging Het
Svep1 C T 4: 58,088,280 (GRCm39) G1723D probably damaging Het
Tenm3 G C 8: 48,870,257 (GRCm39) Q179E probably benign Het
Thap12 A G 7: 98,356,302 (GRCm39) E63G probably damaging Het
Thsd7a T A 6: 12,501,085 (GRCm39) T441S possibly damaging Het
Tle6 G A 10: 81,427,810 (GRCm39) H482Y probably damaging Het
Tmem184a A G 5: 139,794,193 (GRCm39) F177L probably benign Het
Uggt2 A T 14: 119,315,131 (GRCm39) S313T possibly damaging Het
Unc13a A G 8: 72,100,584 (GRCm39) I1068T probably benign Het
Xirp1 T C 9: 119,845,983 (GRCm39) R967G probably benign 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
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
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'- CTAACCTCTGTCAAGGCATTGC -3'
(R):5'- TTGTGCATGGCAGAAATTTCCAG -3'

Sequencing Primer
(F):5'- GCATTGCCAAGCACAGTCTC -3'
(R):5'- CATGGCAGAAATTTCCAGGGTTTC -3'
Posted On 2018-06-06