Incidental Mutation 'R0800:Hbq1b'
ID 76241
Institutional Source Beutler Lab
Gene Symbol Hbq1b
Ensembl Gene ENSMUSG00000073063
Gene Name hemoglobin, theta 1B
Synonyms F830116E18Rik
MMRRC Submission 038980-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0800 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 32236965-32237784 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 32237581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 123 (H123P)
Ref Sequence ENSEMBL: ENSMUSP00000098936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093209] [ENSMUST00000101387]
AlphaFold Q3U0A6
Predicted Effect probably benign
Transcript: ENSMUST00000093209
SMART Domains Protein: ENSMUSP00000090897
Gene: ENSMUSG00000069919

DomainStartEndE-ValueType
Pfam:Globin 7 107 7.3e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101387
AA Change: H123P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098936
Gene: ENSMUSG00000073063
AA Change: H123P

DomainStartEndE-ValueType
Pfam:Globin 7 107 7.2e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151724
Meta Mutation Damage Score 0.9113 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.7%
Validation Efficiency 98% (52/53)
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 T1 (or 5') 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B230217C12Rik T C 11: 97,732,086 (GRCm39) probably benign Het
Cacna1g T C 11: 94,317,265 (GRCm39) D1498G probably damaging Het
Ces3b T A 8: 105,811,901 (GRCm39) D103E possibly damaging Het
Chd5 A G 4: 152,440,614 (GRCm39) Y158C probably damaging Het
Cic A G 7: 24,984,662 (GRCm39) T1033A probably benign Het
Cst13 A T 2: 148,672,247 (GRCm39) I141F possibly damaging Het
Dnah7a A G 1: 53,604,855 (GRCm39) L1301P probably damaging Het
Dnah8 T A 17: 30,923,636 (GRCm39) F1201L probably benign Het
Dok7 T C 5: 35,232,633 (GRCm39) probably benign Het
Dzip3 A G 16: 48,774,171 (GRCm39) probably benign Het
Eml6 A G 11: 29,699,877 (GRCm39) V1753A probably benign Het
Fer1l4 A G 2: 155,887,583 (GRCm39) F538L possibly damaging Het
Fmo2 C T 1: 162,704,383 (GRCm39) D508N probably benign Het
Gabpb1 A T 2: 126,472,248 (GRCm39) Y351N probably damaging Het
Gnaq T A 19: 16,312,428 (GRCm39) V230E probably damaging Het
Gprc5c A C 11: 114,757,537 (GRCm39) K48Q probably damaging Het
Gzmd A G 14: 56,369,948 (GRCm39) L11P unknown Het
Hibadh T A 6: 52,533,490 (GRCm39) I209F probably damaging Het
Il17f G T 1: 20,848,177 (GRCm39) C100* probably null Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Itga8 A T 2: 12,198,362 (GRCm39) V541E possibly damaging Het
Kifc5b T A 17: 27,142,158 (GRCm39) V212D probably benign Het
Klra2 A T 6: 131,207,137 (GRCm39) Y157* probably null Het
Kprp T C 3: 92,732,342 (GRCm39) Y236C unknown Het
Mmp12 A T 9: 7,357,827 (GRCm39) M414L possibly damaging Het
Myh6 A G 14: 55,190,735 (GRCm39) probably benign Het
Nlgn2 A G 11: 69,716,823 (GRCm39) F573L possibly damaging Het
Or10j7 C T 1: 173,011,627 (GRCm39) A125T probably damaging Het
Or4c124 A G 2: 89,156,008 (GRCm39) V172A probably benign Het
Pakap T A 4: 57,709,650 (GRCm39) D198E probably benign Het
Papss1 T A 3: 131,305,615 (GRCm39) probably benign Het
Parp4 A G 14: 56,827,408 (GRCm39) T181A probably benign Het
Piwil2 A T 14: 70,646,486 (GRCm39) probably benign Het
Pla2g12b A G 10: 59,239,642 (GRCm39) N17S probably benign Het
Polr3c C A 3: 96,626,627 (GRCm39) V266L probably damaging Het
Pou3f3 A G 1: 42,737,527 (GRCm39) T408A probably damaging Het
Pskh1 A G 8: 106,640,238 (GRCm39) Y306C probably damaging Het
Rom1 T A 19: 8,906,272 (GRCm39) D89V probably damaging Het
Sell T A 1: 163,893,770 (GRCm39) probably null Het
Sox6 A G 7: 115,178,249 (GRCm39) probably null Het
Speg T C 1: 75,400,133 (GRCm39) S2527P probably damaging Het
Stat3 A G 11: 100,784,981 (GRCm39) probably benign Het
Stra6l A G 4: 45,882,797 (GRCm39) T503A probably benign Het
Tapbp A G 17: 34,145,227 (GRCm39) T375A probably benign Het
Tgm6 G A 2: 129,985,342 (GRCm39) V382M possibly damaging Het
Trappc9 A T 15: 72,824,981 (GRCm39) probably benign Het
Txlnb A G 10: 17,675,240 (GRCm39) N131S possibly damaging Het
Usp19 A G 9: 108,372,353 (GRCm39) E469G probably damaging Het
Vmn2r17 T A 5: 109,575,192 (GRCm39) probably benign Het
Zfp750 T C 11: 121,402,838 (GRCm39) T637A probably benign Het
Zhx2 A C 15: 57,686,124 (GRCm39) I498L probably damaging Het
Other mutations in Hbq1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0755:Hbq1b UTSW 11 32,237,104 (GRCm39) splice site probably null
R4386:Hbq1b UTSW 11 32,237,295 (GRCm39) missense probably damaging 1.00
R4704:Hbq1b UTSW 11 32,237,448 (GRCm39) intron probably benign
R4912:Hbq1b UTSW 11 32,237,014 (GRCm39) start codon destroyed probably null 1.00
R9130:Hbq1b UTSW 11 32,237,092 (GRCm39) missense probably damaging 1.00
R9132:Hbq1b UTSW 11 32,237,228 (GRCm39) nonsense probably null
R9309:Hbq1b UTSW 11 32,237,408 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGGTTAAAGCCCATGCCCAAAAGG -3'
(R):5'- TGCGTCCAGGACAACAATGCAG -3'

Sequencing Primer
(F):5'- TGCTAACTTCCAGGTGAGTC -3'
(R):5'- GGACAACAATGCAGCCCTG -3'
Posted On 2013-10-16