Incidental Mutation 'R3954:Hbq1a'
ID 308111
Institutional Source Beutler Lab
Gene Symbol Hbq1a
Ensembl Gene ENSMUSG00000020295
Gene Name hemoglobin, theta 1A
Synonyms A230090E05Rik, LOC380691, Hbq1
MMRRC Submission 040831-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3954 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 32250069-32250873 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 32250214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020535] [ENSMUST00000093207]
AlphaFold Q8BYM1
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 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 0.9373 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (42/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,100,805 (GRCm39) K393E possibly damaging Het
Aagab A G 9: 63,526,442 (GRCm39) E155G probably damaging Het
Acad11 A G 9: 103,963,351 (GRCm39) probably benign Het
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
Ankle2 A G 5: 110,399,541 (GRCm39) T633A probably benign Het
Arhgef19 A G 4: 140,983,645 (GRCm39) Y726C probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
B3galnt2 A G 13: 14,141,039 (GRCm39) Q87R probably benign Het
Carmil1 A G 13: 24,197,390 (GRCm39) S1349P probably benign Het
Cfap52 C A 11: 67,821,691 (GRCm39) V446L probably benign Het
Cgnl1 T C 9: 71,631,945 (GRCm39) N469D probably benign Het
Clspn ACGGCGGCGGC A 4: 126,460,230 (GRCm39) probably null Het
Cpsf3 A G 12: 21,363,806 (GRCm39) D632G probably benign Het
Cyp3a57 A T 5: 145,286,135 (GRCm39) probably null Het
Dennd5a A G 7: 109,504,906 (GRCm39) M868T probably benign Het
Dlg1 T C 16: 31,676,826 (GRCm39) Y792H probably damaging Het
Dusp13b T A 14: 21,790,175 (GRCm39) D57V probably damaging Het
Galnt6 A G 15: 100,595,049 (GRCm39) V484A possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Igkv4-79 A G 6: 69,020,229 (GRCm39) S29P possibly damaging Het
Lamp5 G A 2: 135,902,928 (GRCm39) D216N probably damaging Het
Me2 A G 18: 73,914,203 (GRCm39) F443L probably damaging Het
Ncam2 G A 16: 81,386,612 (GRCm39) V664M probably damaging Het
Ndst4 T C 3: 125,231,554 (GRCm39) M41T probably benign Het
Nkx6-3 G T 8: 23,643,742 (GRCm39) A48S possibly damaging Het
Ntng2 A G 2: 29,097,547 (GRCm39) C305R probably damaging Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Odad1 A G 7: 45,591,100 (GRCm39) K192E probably damaging Het
Omd A T 13: 49,743,213 (GRCm39) I88F probably benign Het
Or51f1 A G 7: 102,505,824 (GRCm39) C222R probably damaging Het
Pi4k2a G A 19: 42,104,338 (GRCm39) A367T probably damaging Het
Pramel30 A C 4: 144,058,238 (GRCm39) M282L probably benign Het
Prph2 T C 17: 47,221,644 (GRCm39) F8L probably benign Het
Qng1 A G 13: 58,532,203 (GRCm39) S118P probably damaging Het
Rasgrf2 A G 13: 92,130,974 (GRCm39) S696P probably damaging Het
Slc26a1 T C 5: 108,821,448 (GRCm39) D147G possibly damaging Het
Tec T C 5: 72,939,520 (GRCm39) probably null Het
Tmem131l C A 3: 83,817,726 (GRCm39) C1257F probably damaging Het
Trim30d C T 7: 104,121,728 (GRCm39) G339D probably damaging Het
Ttc6 T C 12: 57,744,238 (GRCm39) V1290A probably benign Het
Vmn1r124 A G 7: 20,994,448 (GRCm39) V32A possibly damaging Het
Zc3h13 T A 14: 75,567,178 (GRCm39) S921T 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
R3431:Hbq1a UTSW 11 32,250,715 (GRCm39) missense probably benign
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
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'- TCAAAGCTGAACCAGAATCTGTG -3'
(R):5'- TGGGCTTTAACCTGGCTAGAG -3'

Sequencing Primer
(F):5'- TGTGAACACCTAGGCATCCTG -3'
(R):5'- GCTAGAGCCTGGCCTCAG -3'
Posted On 2015-04-17