Incidental Mutation 'R0854:Hbb-bh2'
ID 82654
Institutional Source Beutler Lab
Gene Symbol Hbb-bh2
Ensembl Gene ENSMUSG00000078621
Gene Name hemoglobin beta, bh2
Synonyms Gm5736
MMRRC Submission 039033-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0854 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103488331-103489727 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103489272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 93 (H93R)
Ref Sequence ENSEMBL: ENSMUSP00000102479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063957] [ENSMUST00000106866]
AlphaFold B2RVB7
Predicted Effect probably benign
Transcript: ENSMUST00000063957
SMART Domains Protein: ENSMUSP00000064865
Gene: ENSMUSG00000052217

DomainStartEndE-ValueType
Pfam:Globin 8 112 4.2e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106866
AA Change: H93R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102479
Gene: ENSMUSG00000078621
AA Change: H93R

DomainStartEndE-ValueType
Pfam:Globin 8 112 1.9e-25 PFAM
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G A 11: 69,055,302 (GRCm39) probably null Het
Brox T G 1: 183,069,322 (GRCm39) R128S possibly damaging Het
Cfap57 G A 4: 118,419,069 (GRCm39) T1153I probably benign Het
Ddt C T 10: 75,607,329 (GRCm39) R54H probably benign Het
Epm2aip1 T A 9: 111,101,567 (GRCm39) L180* probably null Het
Fer1l6 A G 15: 58,431,037 (GRCm39) I231V probably benign Het
Gng7 A G 10: 80,787,507 (GRCm39) V52A possibly damaging Het
Muc4 A T 16: 32,599,329 (GRCm39) H3292L possibly damaging Het
Mybpc2 T C 7: 44,166,426 (GRCm39) E188G probably benign Het
Myh4 T C 11: 67,149,973 (GRCm39) L1844P possibly damaging Het
Ncan G T 8: 70,565,202 (GRCm39) R242S probably damaging Het
Nceh1 T A 3: 27,295,468 (GRCm39) L243Q probably damaging Het
Notch4 T A 17: 34,787,546 (GRCm39) S369T probably damaging Het
P3h3 G T 6: 124,831,896 (GRCm39) D296E probably benign Het
Pask T A 1: 93,255,122 (GRCm39) K316M probably damaging Het
Pask T A 1: 93,255,156 (GRCm39) T305S possibly damaging Het
Pask T C 1: 93,255,134 (GRCm39) K312R probably damaging Het
Pgbd1 A G 13: 21,607,342 (GRCm39) V284A probably damaging Het
Sec24c A G 14: 20,739,408 (GRCm39) Y40C probably damaging Het
Sema6d C T 2: 124,507,222 (GRCm39) T1010M probably damaging Het
Thsd1 G A 8: 22,748,587 (GRCm39) G433E probably damaging Het
Tnfsf18 T A 1: 161,331,237 (GRCm39) I129N probably damaging Het
Tsc22d1 C T 14: 76,655,641 (GRCm39) Q625* probably null Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn2r58 T G 7: 41,486,562 (GRCm39) N778H probably damaging Het
Wdr17 C T 8: 55,156,916 (GRCm39) V7I probably benign Het
Zranb1 T C 7: 132,551,577 (GRCm39) V102A possibly damaging Het
Other mutations in Hbb-bh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0179:Hbb-bh2 UTSW 7 103,488,434 (GRCm39) missense probably benign 0.05
R1676:Hbb-bh2 UTSW 7 103,488,362 (GRCm39) missense probably null 0.02
R1701:Hbb-bh2 UTSW 7 103,489,450 (GRCm39) missense probably benign 0.19
R1816:Hbb-bh2 UTSW 7 103,489,585 (GRCm39) missense possibly damaging 0.86
R4011:Hbb-bh2 UTSW 7 103,489,416 (GRCm39) missense probably benign 0.22
R4491:Hbb-bh2 UTSW 7 103,489,622 (GRCm39) missense probably benign 0.08
R4882:Hbb-bh2 UTSW 7 103,488,455 (GRCm39) missense probably damaging 1.00
R9504:Hbb-bh2 UTSW 7 103,489,339 (GRCm39) missense probably damaging 1.00
R9780:Hbb-bh2 UTSW 7 103,489,624 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGGTCTAAGCAAGGGACTTGAGG -3'
(R):5'- TGACGGTTTATCCACACACCAAGAG -3'

Sequencing Primer
(F):5'- AGCTGTGGGTGGAGCAC -3'
(R):5'- GAGATACTTTGACCACTTTGGAGAC -3'
Posted On 2013-11-08