Incidental Mutation 'R4386:Hbq1b'
ID 326235
Institutional Source Beutler Lab
Gene Symbol Hbq1b
Ensembl Gene ENSMUSG00000073063
Gene Name hemoglobin, theta 1B
Synonyms F830116E18Rik
MMRRC Submission 041680-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4386 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 32236965-32237784 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32237295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 63 (V63E)
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: V63E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098936
Gene: ENSMUSG00000073063
AA Change: V63E

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 0.9186 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (48/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,379,982 (GRCm39) probably null Het
Acsm3 G T 7: 119,373,094 (GRCm39) W199L probably damaging Het
Arap1 T A 7: 101,034,778 (GRCm39) D236E probably benign Het
Arhgap1 T C 2: 91,498,582 (GRCm39) Y160H probably damaging Het
Arid1b A G 17: 5,045,247 (GRCm39) probably benign Het
Cdc25a A G 9: 109,718,801 (GRCm39) E334G probably damaging Het
Ciz1 C T 2: 32,260,111 (GRCm39) T219M possibly damaging Het
Cluap1 A C 16: 3,751,586 (GRCm39) D315A possibly damaging Het
Cps1 T C 1: 67,210,154 (GRCm39) probably null Het
Cul2 T C 18: 3,434,856 (GRCm39) S668P probably damaging Het
Fah T A 7: 84,248,344 (GRCm39) T125S probably damaging Het
Fam221a G A 6: 49,355,366 (GRCm39) C156Y probably damaging Het
Gm6158 G T 14: 24,120,362 (GRCm39) noncoding transcript Het
Ighv6-5 G A 12: 114,380,337 (GRCm39) T79I possibly damaging Het
Kif12 G A 4: 63,089,455 (GRCm39) T99M probably damaging Het
Kif1a T A 1: 92,996,272 (GRCm39) K298M probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lama1 A G 17: 68,080,707 (GRCm39) Q1245R probably benign Het
Marchf4 G A 1: 72,467,973 (GRCm39) P353L probably benign Het
Nadk A T 4: 155,667,032 (GRCm39) probably benign Het
Ncoa2 T C 1: 13,247,389 (GRCm39) T345A probably damaging Het
Niban3 A G 8: 72,060,155 (GRCm39) probably benign Het
Nsun6 T A 2: 15,001,333 (GRCm39) M408L probably benign Het
Nuak1 T A 10: 84,229,908 (GRCm39) E155V probably damaging Het
Oosp1 C T 19: 11,645,158 (GRCm39) V169I possibly damaging Het
Or13c7c C T 4: 43,836,124 (GRCm39) R122H probably benign Het
Or2t26 T A 11: 49,039,842 (GRCm39) Y253N probably damaging Het
Or5ae2 T C 7: 84,505,756 (GRCm39) Y60H probably damaging Het
Or5p81 T A 7: 108,267,460 (GRCm39) V279E probably damaging Het
Pabpc2 T C 18: 39,908,238 (GRCm39) V501A probably benign Het
Pik3c2a A G 7: 115,953,334 (GRCm39) V1187A probably damaging Het
Pkhd1 A G 1: 20,484,516 (GRCm39) V2013A probably benign Het
Psmd1 T A 1: 86,055,914 (GRCm39) S759T possibly damaging Het
Scgb1b2 T A 7: 30,990,089 (GRCm39) K86N possibly damaging Het
Sdk1 T C 5: 142,080,381 (GRCm39) I1291T probably damaging Het
Skint5 T C 4: 113,341,090 (GRCm39) Y1396C probably benign Het
Slc24a3 A G 2: 145,448,746 (GRCm39) E380G probably benign Het
Spock1 A G 13: 57,588,263 (GRCm39) S270P probably damaging Het
Tmem128 T C 5: 38,419,418 (GRCm39) S57P probably damaging Het
Tmem186 G A 16: 8,453,887 (GRCm39) R125W probably benign Het
Tnfaip3 A G 10: 18,882,758 (GRCm39) S220P probably damaging Het
Usp45 T C 4: 21,830,505 (GRCm39) probably null Het
Usp5 C T 6: 124,795,437 (GRCm39) probably null Het
Vmn1r35 A T 6: 66,656,573 (GRCm39) C32* probably null Het
Vmn2r112 T A 17: 22,820,303 (GRCm39) F59I probably benign Het
Wfdc9 A T 2: 164,492,458 (GRCm39) S56R probably benign Het
Zfp369 A G 13: 65,444,806 (GRCm39) I650V probably benign Het
Other mutations in Hbq1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0755:Hbq1b UTSW 11 32,237,104 (GRCm39) splice site probably null
R0800:Hbq1b UTSW 11 32,237,581 (GRCm39) missense probably damaging 0.98
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'- ATGTCGGAATCTACGCGACC -3'
(R):5'- CCTACACCAAGCCTTGAAGG -3'

Sequencing Primer
(F):5'- ATCTACGCGACCGAGGCTTTG -3'
(R):5'- TTGAAGGGACCCACATCTCCAG -3'
Posted On 2015-07-06