Incidental Mutation 'R3432:Hbq1a'
ID 266243
Institutional Source Beutler Lab
Gene Symbol Hbq1a
Ensembl Gene ENSMUSG00000020295
Gene Name hemoglobin, theta 1A
Synonyms A230090E05Rik, LOC380691, Hbq1
MMRRC Submission 040650-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3432 (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: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 98% (44/45)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 G A 1: 125,321,776 (GRCm39) P405S probably damaging Het
Adamts3 A G 5: 89,855,312 (GRCm39) probably benign Het
Angptl2 T C 2: 33,118,814 (GRCm39) V196A probably benign Het
Aoc1 A T 6: 48,882,778 (GRCm39) H240L probably damaging Het
Arsj A T 3: 126,158,624 (GRCm39) T68S probably benign Het
Atp8b3 T C 10: 80,362,014 (GRCm39) K708E probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Ceacam5 T A 7: 17,448,901 (GRCm39) V89E probably benign Het
Cpt1b T C 15: 89,307,944 (GRCm39) E205G possibly damaging Het
Dhrs7c C T 11: 67,700,699 (GRCm39) T82I 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
Fam89b A T 19: 5,781,761 (GRCm39) probably null Het
Fbxo16 T C 14: 65,531,233 (GRCm39) F46L probably damaging Het
Glp1r T A 17: 31,143,531 (GRCm39) L189H probably damaging Het
Gstp1 G A 19: 4,086,695 (GRCm39) T110I possibly damaging Het
Hhipl1 A G 12: 108,277,948 (GRCm39) E92G probably damaging Het
Il18r1 C T 1: 40,526,249 (GRCm39) T265M probably damaging Het
Lpp T C 16: 24,708,636 (GRCm39) V447A probably benign 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
Mmel1 C T 4: 154,969,955 (GRCm39) probably benign Het
Myo5c A G 9: 75,170,283 (GRCm39) E471G probably damaging Het
Obscn A G 11: 58,922,003 (GRCm39) L317P probably damaging Het
Or8b57 A T 9: 40,003,845 (GRCm39) M139K probably damaging Het
Psg18 A G 7: 18,083,096 (GRCm39) V232A possibly damaging Het
Ptprt T C 2: 161,769,449 (GRCm39) E472G probably damaging Het
Rap2a G T 14: 120,741,170 (GRCm39) A158S possibly damaging Het
Rbm15 A T 3: 107,237,993 (GRCm39) S802T probably benign Het
Sec14l5 A G 16: 4,996,463 (GRCm39) I470V possibly damaging Het
Serpinb1a T C 13: 33,026,842 (GRCm39) T367A possibly damaging Het
Sirpb1a A G 3: 15,491,447 (GRCm39) W7R probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Taf5 A C 19: 47,064,272 (GRCm39) K405T probably damaging Het
Tbc1d19 T C 5: 54,005,548 (GRCm39) probably benign Het
Trim58 T C 11: 58,537,787 (GRCm39) probably benign Het
Tssk4 A G 14: 55,889,152 (GRCm39) N226S probably damaging Het
Uggt1 C A 1: 36,249,140 (GRCm39) E267* probably null Het
Zdhhc23 T A 16: 43,794,533 (GRCm39) probably benign Het
Zfp407 G A 18: 84,226,871 (GRCm39) A2246V probably damaging Het
Zfp872 C T 9: 22,111,750 (GRCm39) R410* probably null 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
R3431: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'- TGTGTGGACCCTGCTAACTTC -3'
(R):5'- ACCAGGCTCAAATGTACAGC -3'

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