Incidental Mutation 'R9504:Hbb-bh2'
ID 717728
Institutional Source Beutler Lab
Gene Symbol Hbb-bh2
Ensembl Gene ENSMUSG00000078621
Gene Name hemoglobin beta, bh2
Synonyms Gm5736
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9504 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 103488331-103489727 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103489339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 71 (S71P)
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: S71P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102479
Gene: ENSMUSG00000078621
AA Change: S71P

DomainStartEndE-ValueType
Pfam:Globin 8 112 1.9e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1b1 T C 4: 45,802,905 (GRCm39) Y148H probably damaging Het
Ankib1 A G 5: 3,763,235 (GRCm39) V498A probably benign Het
Atp6v0c A G 17: 24,383,493 (GRCm39) V118A possibly damaging Het
Bcan G A 3: 87,900,748 (GRCm39) P495L probably benign Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Ccdc178 T C 18: 22,238,708 (GRCm39) E303G possibly damaging Het
Ccdc47 T C 11: 106,101,155 (GRCm39) N169S probably benign Het
Cldn23 A T 8: 36,293,470 (GRCm39) V6E probably damaging Het
Dip2a T C 10: 76,132,189 (GRCm39) T560A probably damaging Het
Ephb3 A G 16: 21,036,830 (GRCm39) S352G possibly damaging Het
Far2 C A 6: 148,059,453 (GRCm39) A256E probably damaging Het
Gga1 C T 15: 78,767,528 (GRCm39) R89C probably damaging Het
Lama1 T A 17: 68,128,661 (GRCm39) V3006D Het
Lypd9 A G 11: 58,337,215 (GRCm39) V86A probably benign Het
Mrm1 G A 11: 84,710,132 (GRCm39) R23W probably damaging Het
Nod2 A T 8: 89,391,906 (GRCm39) I738F probably damaging Het
Or1p1b C T 11: 74,131,094 (GRCm39) R235C probably benign Het
Or4c35 G T 2: 89,808,497 (GRCm39) C125F probably damaging Het
Or8b4 A G 9: 37,830,163 (GRCm39) D70G probably damaging Het
Pkd1l1 A G 11: 8,815,631 (GRCm39) W1877R Het
Psmd2 C T 16: 20,478,160 (GRCm39) A515V probably benign Het
Samd9l A G 6: 3,372,621 (GRCm39) Y1547H probably benign Het
Sgsh T C 11: 119,237,375 (GRCm39) N413S probably benign Het
Slmap G A 14: 26,136,133 (GRCm39) P819L probably damaging Het
Steap4 A G 5: 8,030,538 (GRCm39) N465D probably benign Het
Sult3a2 T C 10: 33,642,436 (GRCm39) N289S probably benign Het
Tbx2 T A 11: 85,724,038 (GRCm39) S36T possibly damaging Het
Tcstv1a G A 13: 120,355,267 (GRCm39) Q122* probably null Het
Tnk2 T C 16: 32,498,961 (GRCm39) V758A possibly damaging Het
Trrap C T 5: 144,742,904 (GRCm39) T1425M probably damaging Het
Ttc9b A G 7: 27,354,394 (GRCm39) K160R probably damaging Het
Vinac1 C T 2: 128,881,189 (GRCm39) A246T Het
Zfp959 T A 17: 56,204,793 (GRCm39) Y277N probably benign Het
Other mutations in Hbb-bh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0179:Hbb-bh2 UTSW 7 103,488,434 (GRCm39) missense probably benign 0.05
R0854:Hbb-bh2 UTSW 7 103,489,272 (GRCm39) missense probably damaging 1.00
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
R9780:Hbb-bh2 UTSW 7 103,489,624 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTGGGTGGAGCACAAAAG -3'
(R):5'- GGAGGTATGTGGAGGCACTG -3'

Sequencing Primer
(F):5'- TTAGACGATTAAGTGTAGGCAAATG -3'
(R):5'- GGAGGCACTGAATTTCTCTGTCC -3'
Posted On 2022-07-18