Incidental Mutation 'R3120:Hbq1a'
ID 263180
Institutional Source Beutler Lab
Gene Symbol Hbq1a
Ensembl Gene ENSMUSG00000020295
Gene Name hemoglobin, theta 1A
Synonyms A230090E05Rik, LOC380691, Hbq1
MMRRC Submission 040593-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3120 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 32250069-32250873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32250472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 87 (L87P)
Ref Sequence ENSEMBL: ENSMUSP00000020535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020535] [ENSMUST00000093207]
AlphaFold Q8BYM1
Predicted Effect probably damaging
Transcript: ENSMUST00000020535
AA Change: L87P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020535
Gene: ENSMUSG00000020295
AA Change: L87P

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsx A G 9: 40,788,908 (GRCm39) K155R possibly damaging Het
Ccdc39 T C 3: 33,891,987 (GRCm39) K162E probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dnah1 G A 14: 30,988,779 (GRCm39) R3351* probably null Het
Eml1 A G 12: 108,479,312 (GRCm39) R362G probably benign Het
Fam222b T C 11: 78,044,742 (GRCm39) L101P probably damaging Het
Fars2 A G 13: 36,430,400 (GRCm39) E276G probably damaging Het
Gatad1 G T 5: 3,691,456 (GRCm39) Y33* probably null Het
Gclc A C 9: 77,688,552 (GRCm39) E219A possibly damaging Het
Gm4846 A G 1: 166,319,117 (GRCm39) V207A probably benign Het
H1f5 A T 13: 21,964,215 (GRCm39) S170R probably benign Het
Magea6 A T X: 153,707,291 (GRCm39) I255N probably benign Het
Mfsd12 T G 10: 81,197,049 (GRCm39) V206G probably benign Het
Mis18bp1 T C 12: 65,203,762 (GRCm39) probably null Het
Nf1 C A 11: 79,455,725 (GRCm39) T550K probably damaging Het
Nlrp4f T C 13: 65,342,530 (GRCm39) T372A probably benign Het
Or5p70 T C 7: 107,994,930 (GRCm39) I201T possibly damaging Het
Pkdcc T C 17: 83,527,466 (GRCm39) Y215H probably damaging Het
Plekha5 A G 6: 140,537,367 (GRCm39) T253A probably benign Het
Polr2f T A 15: 79,028,788 (GRCm39) probably null Het
Prph2 C T 17: 47,234,298 (GRCm39) A289V possibly damaging Het
Ptdss2 C T 7: 140,732,132 (GRCm39) H140Y probably damaging Het
Rlf T A 4: 121,006,680 (GRCm39) I877L probably benign Het
Scgb2b2 T C 7: 31,003,001 (GRCm39) L32S possibly damaging Het
Sfpq T A 4: 126,915,926 (GRCm39) H239Q unknown Het
St6gal2 A T 17: 55,789,111 (GRCm39) R48S probably benign Het
Sybu T C 15: 44,536,355 (GRCm39) D657G possibly damaging Het
Syt15 A G 14: 33,944,950 (GRCm39) I166V probably benign Het
Taar7f C A 10: 23,925,478 (GRCm39) T24K probably benign Het
Tbcd T C 11: 121,499,474 (GRCm39) S1093P probably damaging Het
Tfap2c G A 2: 172,399,015 (GRCm39) V396M possibly damaging Het
Tnxb C T 17: 34,911,329 (GRCm39) T1544I possibly damaging Het
Trim28 A G 7: 12,762,341 (GRCm39) T322A probably damaging Het
Tubgcp3 G A 8: 12,707,626 (GRCm39) A121V possibly damaging Het
Vmn2r14 A T 5: 109,372,431 (GRCm39) W20R probably null Het
Zfp551 A G 7: 12,149,943 (GRCm39) F489L possibly damaging Het
Other mutations in Hbq1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1417:Hbq1a UTSW 11 32,250,722 (GRCm39) missense probably benign 0.08
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'- TATAGGACCTTCGTGGCTTTCC -3'
(R):5'- TGTCCAAGGAGACATGCATC -3'

Sequencing Primer
(F):5'- GGCTTTCCCCTCCACCAAAAC -3'
(R):5'- TGAAGTCTCCAGGATAGTGCC -3'
Posted On 2015-02-05