Incidental Mutation 'R3431:Hbq1a'
ID 268122
Institutional Source Beutler Lab
Gene Symbol Hbq1a
Ensembl Gene ENSMUSG00000020295
Gene Name hemoglobin, theta 1A
Synonyms A230090E05Rik, LOC380691, Hbq1
MMRRC Submission 040649-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3431 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 32250069-32250873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 32250715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 133 (S133A)
Ref Sequence ENSEMBL: ENSMUSP00000020535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020535] [ENSMUST00000093207]
AlphaFold Q8BYM1
Predicted Effect probably benign
Transcript: ENSMUST00000020535
AA Change: S133A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020535
Gene: ENSMUSG00000020295
AA Change: S133A

DomainStartEndE-ValueType
Pfam:Globin 7 107 6.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093207
SMART Domains Protein: ENSMUSP00000090895
Gene: ENSMUSG00000069917

DomainStartEndE-ValueType
Pfam:Globin 7 107 7.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147010
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: This gene is one of two mouse theta-globin genes found in the alpha-globin gene cluster on chromosome 11. This gene represents the T2 (or 3') theta-globin gene described in PMIDs 18245844 and 11157800, respectively. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,746,560 (GRCm39) H140R possibly damaging Het
Adamts3 A G 5: 89,855,312 (GRCm39) probably benign Het
Apob T G 12: 8,060,778 (GRCm39) F3054V probably damaging Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Calcb A T 7: 114,319,064 (GRCm39) R30W probably damaging Het
Cbl T C 9: 44,062,743 (GRCm39) *914W probably null Het
Chd4 A G 6: 125,097,523 (GRCm39) probably benign Het
Clec4a2 A T 6: 123,116,370 (GRCm39) probably null Het
Crb2 T A 2: 37,682,229 (GRCm39) V870E probably benign Het
Cyp2c39 A G 19: 39,525,306 (GRCm39) E203G probably damaging Het
Dhrs7 A T 12: 72,711,501 (GRCm39) L12Q probably damaging Het
Dnah5 A G 15: 28,295,413 (GRCm39) Y1382C probably benign Het
Efs C T 14: 55,157,681 (GRCm39) R117Q probably damaging Het
Evl T C 12: 108,614,567 (GRCm39) probably benign Het
Fbxo16 T C 14: 65,531,233 (GRCm39) F46L probably damaging Het
Fsip2 A G 2: 82,822,354 (GRCm39) E6029G possibly damaging Het
Gm20775 A T Y: 10,641,956 (GRCm39) noncoding transcript Het
Gm4924 T A 10: 82,214,864 (GRCm39) Y887* probably null Het
H60c G T 10: 3,210,382 (GRCm39) R56S possibly damaging Het
Hhipl1 A G 12: 108,277,948 (GRCm39) E92G probably damaging Het
Knl1 A T 2: 118,892,843 (GRCm39) E46D probably damaging Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mmp21 T C 7: 133,280,479 (GRCm39) T164A probably benign Het
Mthfd2 T C 6: 83,288,330 (GRCm39) R142G probably benign Het
Mup4 T G 4: 59,959,192 (GRCm39) probably null Het
Npas3 A T 12: 54,115,832 (GRCm39) Q900L probably damaging Het
Nr1h3 T C 2: 91,022,205 (GRCm39) D141G probably damaging Het
Rap2a G T 14: 120,741,170 (GRCm39) A158S possibly damaging Het
Rttn A G 18: 89,113,695 (GRCm39) T1705A probably benign Het
Ryr3 A T 2: 112,486,876 (GRCm39) V3834E probably damaging Het
Taf5 A C 19: 47,064,272 (GRCm39) K405T probably damaging Het
Tbc1d19 T C 5: 54,005,548 (GRCm39) probably benign Het
Tmem232 A T 17: 65,572,297 (GRCm39) probably null Het
Tssk4 A G 14: 55,889,152 (GRCm39) N226S probably damaging Het
Tulp4 C A 17: 6,257,239 (GRCm39) S311R probably benign Het
Uggt1 C A 1: 36,249,140 (GRCm39) E267* probably null Het
Usp34 T C 11: 23,320,466 (GRCm39) I917T possibly damaging Het
Other mutations in Hbq1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1417:Hbq1a UTSW 11 32,250,722 (GRCm39) missense probably benign 0.08
R3120:Hbq1a UTSW 11 32,250,472 (GRCm39) missense probably damaging 1.00
R3432:Hbq1a UTSW 11 32,250,715 (GRCm39) missense probably benign
R3953:Hbq1a UTSW 11 32,250,214 (GRCm39) critical splice donor site probably null
R3954:Hbq1a UTSW 11 32,250,214 (GRCm39) critical splice donor site probably null
R3956:Hbq1a UTSW 11 32,250,214 (GRCm39) critical splice donor site probably null
R6748:Hbq1a UTSW 11 32,250,169 (GRCm39) splice site probably null
R9067:Hbq1a UTSW 11 32,250,400 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGTGTGGACCCTGCTAAC -3'
(R):5'- CAGGCTCAAATGTACAGCAGC -3'

Sequencing Primer
(F):5'- ACCCTGCTAACTTCCAGGTGAG -3'
(R):5'- GGCTCAAATGTACAGCAGCATCAC -3'
Posted On 2015-02-18