Incidental Mutation 'R5764:Hba-a2'
ID 446185
Institutional Source Beutler Lab
Gene Symbol Hba-a2
Ensembl Gene ENSMUSG00000069917
Gene Name hemoglobin alpha, adult chain 2
Synonyms alpha 2 globin
MMRRC Submission 043365-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5764 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 32246489-32247298 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 32247156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020535] [ENSMUST00000093207]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000020535
SMART Domains Protein: ENSMUSP00000020535
Gene: ENSMUSG00000020295

DomainStartEndE-ValueType
Pfam:Globin 7 107 6.4e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000093207
AA Change: L126Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090895
Gene: ENSMUSG00000069917
AA Change: L126Q

DomainStartEndE-ValueType
Pfam:Globin 7 107 7.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147010
Meta Mutation Damage Score 0.9613 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (53/54)
MGI Phenotype PHENOTYPE: Homozygotes for a targeted deletion of both adult hemoglobin-alpha genes die in late gestation with symptoms resembling human hydrops fetalis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,413,423 (GRCm39) V536I possibly damaging Het
Arap2 T C 5: 62,800,197 (GRCm39) T1277A probably damaging Het
Cep85l A T 10: 53,225,090 (GRCm39) D166E probably benign Het
Cope T C 8: 70,759,231 (GRCm39) S125P probably damaging Het
Dzip3 A G 16: 48,747,724 (GRCm39) probably benign Het
Endou G A 15: 97,612,488 (GRCm39) R253C probably damaging Het
Entpd1 A T 19: 40,727,417 (GRCm39) probably null Het
Fhip1a A G 3: 85,573,172 (GRCm39) Y926H probably damaging Het
Grk3 A G 5: 113,114,776 (GRCm39) probably null Het
Hecw1 C T 13: 14,497,094 (GRCm39) V305I probably damaging Het
Hspg2 C A 4: 137,289,032 (GRCm39) T3735K probably damaging Het
Htr4 G A 18: 62,570,613 (GRCm39) A223T probably damaging Het
Iglv1 T C 16: 18,904,190 (GRCm39) I7M unknown Het
Jag1 C T 2: 136,931,167 (GRCm39) C655Y probably damaging Het
Jmjd1c C T 10: 67,062,291 (GRCm39) T1548I probably damaging Het
Kif5a GGGTTGGT GGGT 10: 127,066,898 (GRCm39) probably null Het
Klra6 T A 6: 129,999,692 (GRCm39) Q92L possibly damaging Het
Lrp1 T C 10: 127,431,187 (GRCm39) N325S probably benign Het
Ly75 C T 2: 60,148,783 (GRCm39) R1182H probably benign Het
Map2 T C 1: 66,454,034 (GRCm39) S975P probably damaging Het
Med13l T A 5: 118,866,707 (GRCm39) L587Q probably damaging Het
Mpdz A G 4: 81,274,683 (GRCm39) F180L probably benign Het
Myadm G A 7: 3,345,768 (GRCm39) V177I possibly damaging Het
Ngly1 T A 14: 16,260,799 (GRCm38) M161K probably benign Het
Nup153 A G 13: 46,840,803 (GRCm39) M255T probably damaging Het
Pgm1 C T 4: 99,822,043 (GRCm39) A303V probably damaging Het
Pgr A T 9: 8,900,538 (GRCm39) I24F probably benign Het
Pigq A T 17: 26,151,093 (GRCm39) I412N probably damaging Het
Plod2 A G 9: 92,485,074 (GRCm39) H525R probably damaging Het
Polq T G 16: 36,837,706 (GRCm39) M206R probably damaging Het
Psap T A 10: 60,129,186 (GRCm39) S100T probably benign Het
Psme4 G A 11: 30,722,364 (GRCm39) probably benign Het
Serpina1d T A 12: 103,732,080 (GRCm39) M260L probably benign Het
Serpinf2 A G 11: 75,328,230 (GRCm39) L106P possibly damaging Het
Sumf1 C T 6: 108,095,424 (GRCm39) probably benign Het
Tcp1 A G 17: 13,135,489 (GRCm39) T13A probably benign Het
Tfap2a A C 13: 40,881,831 (GRCm39) I185S possibly damaging Het
Tlr2 A C 3: 83,745,819 (GRCm39) I88S probably damaging Het
Tmc4 A T 7: 3,675,022 (GRCm39) F283L probably damaging Het
Tox4 T C 14: 52,523,277 (GRCm39) V79A probably damaging Het
Trim10 A T 17: 37,181,073 (GRCm39) E101D probably damaging Het
Troap T A 15: 98,973,300 (GRCm39) I22N probably damaging Het
Unc13c C T 9: 73,441,185 (GRCm39) probably null Het
Utp4 T G 8: 107,644,248 (GRCm39) V529G possibly damaging Het
Zeb2 T C 2: 44,886,931 (GRCm39) M664V possibly damaging Het
Zfp180 A G 7: 23,800,909 (GRCm39) Y53C possibly damaging Het
Other mutations in Hba-a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4570:Hba-a2 UTSW 11 32,247,200 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTTCAAGGTATGCGCTGGG -3'
(R):5'- CATGACACCTTTGCAGACGC -3'

Sequencing Primer
(F):5'- ATCTGGGACCCCTAGGAAG -3'
(R):5'- CGCAGAGAACCAGGCATGC -3'
Posted On 2016-11-21