Incidental Mutation 'R1417:Hbq1a'
ID 159862
Institutional Source Beutler Lab
Gene Symbol Hbq1a
Ensembl Gene ENSMUSG00000020295
Gene Name hemoglobin, theta 1A
Synonyms A230090E05Rik, LOC380691, Hbq1
MMRRC Submission 039473-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1417 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 32250069-32250873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32250722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 135 (D135G)
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: D135G

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000020535
Gene: ENSMUSG00000020295
AA Change: D135G

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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.8%
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 A G 16: 29,117,053 (GRCm39) V565A probably benign Het
Atp6v1b1 T C 6: 83,730,862 (GRCm39) S196P probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ces1a C T 8: 93,749,044 (GRCm39) D456N probably benign Het
Clu T A 14: 66,212,420 (GRCm39) Y124* probably null Het
Cnnm1 A G 19: 43,458,162 (GRCm39) E658G probably benign Het
Dnah9 T C 11: 65,846,573 (GRCm39) E2913G probably damaging Het
Edc4 G A 8: 106,614,487 (GRCm39) probably null Het
Enox1 C T 14: 77,723,445 (GRCm39) probably benign Het
G6pc2 T C 2: 69,053,312 (GRCm39) V122A probably damaging Het
Galns T C 8: 123,311,652 (GRCm39) S453G possibly damaging Het
Gm12185 A C 11: 48,798,669 (GRCm39) V608G probably damaging Het
Hspg2 A G 4: 137,244,947 (GRCm39) T891A probably benign Het
Ift172 T C 5: 31,413,993 (GRCm39) Y1445C probably damaging Het
Ipo8 C T 6: 148,719,550 (GRCm39) D132N probably benign Het
Klhl11 T C 11: 100,363,115 (GRCm39) E147G probably benign Het
Kmt2d A T 15: 98,764,311 (GRCm39) V41D probably damaging Het
Lrp1b T C 2: 40,894,653 (GRCm39) I2306V probably benign Het
Lrp5 A G 19: 3,636,425 (GRCm39) V1514A probably benign Het
Lrrtm2 A T 18: 35,347,011 (GRCm39) I97N probably damaging Het
Mtmr3 C A 11: 4,437,923 (GRCm39) V844L probably benign Het
Myh8 A G 11: 67,197,011 (GRCm39) E1832G probably damaging Het
Or4n5 T A 14: 50,133,020 (GRCm39) R80* probably null Het
Pcdhb16 A G 18: 37,611,180 (GRCm39) T47A probably benign Het
Pfkp T C 13: 6,655,755 (GRCm39) K293E probably benign Het
Phlpp2 G T 8: 110,667,313 (GRCm39) E1281* probably null Het
Prss23 T A 7: 89,159,392 (GRCm39) T226S probably damaging Het
Slc8a1 T G 17: 81,715,709 (GRCm39) M775L probably damaging Het
Stx12 A G 4: 132,587,853 (GRCm39) probably null Het
Syt11 A T 3: 88,669,289 (GRCm39) I201N probably damaging Het
Ttc21a A G 9: 119,783,327 (GRCm39) N543S probably damaging Het
Usf3 A G 16: 44,037,812 (GRCm39) N764S probably benign Het
Xylb A G 9: 119,193,606 (GRCm39) D100G probably benign Het
Zfp423 T C 8: 88,500,284 (GRCm39) probably null Het
Zkscan16 T C 4: 58,952,377 (GRCm39) V225A probably benign Het
Other mutations in Hbq1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- AGGTTAAAGCCCATGCCCAAAAGG -3'
(R):5'- AGGCATACATGGACAGAAGCATCAC -3'

Sequencing Primer
(F):5'- TGCTAACTTCCAGGTGAGTC -3'
(R):5'- GGCACACATGTACAGCATTATC -3'
Posted On 2014-03-14