Incidental Mutation 'F6893:Hoxb1'
ID187
Institutional Source Beutler Lab
Gene Symbol Hoxb1
Ensembl Gene ENSMUSG00000018973
Gene Namehomeobox B1
SynonymsHox-2.9
Accession Numbers

Genbank: NM_008266; MGI: 96182

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #F6893 (G3) of strain busy
Quality Score
Status Validated
Chromosome11
Chromosomal Location96365752-96368256 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 96365902 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 26 (T26S)
Ref Sequence ENSEMBL: ENSMUSP00000019117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019117]
Predicted Effect probably benign
Transcript: ENSMUST00000019117
AA Change: T26S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000019117
Gene: ENSMUSG00000018973
AA Change: T26S

DomainStartEndE-ValueType
low complexity region 72 85 N/A INTRINSIC
low complexity region 124 142 N/A INTRINSIC
HOX 199 261 6.97e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123805
Meta Mutation Damage Score 0.084 question?
Coding Region Coverage
  • 1x: 88.7%
  • 3x: 74.0%
Validation Efficiency 88% (165/188)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele die neonatally with altered segmental identity and abnormal migration of motor neurons in the hindbrain. Mice homozygous for null alleles can exhibit partial postnatal lethality, narrow face, runting, absent facial motor nuclei, and facial nerve/muscle defects. [provided by MGI curators]
Allele List at MGI

All alleles(12) : Targeted, knock-out(2) Targeted, other(10)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 120,325,038 V1638M probably damaging Het
Agrn C T 4: 156,174,179 R972Q probably benign Het
Anxa3 T C 5: 96,824,994 probably benign Het
Bpifa6 G T 2: 153,987,158 D202Y probably damaging Het
Ccdc15 G A 9: 37,315,640 T346I probably damaging Homo
Celsr3 G A 9: 108,835,067 R1731H probably benign Het
Ces4a A G 8: 105,147,227 R443G possibly damaging Het
Chd2 T C 7: 73,507,872 Q175R possibly damaging Het
Dpyd T A 3: 118,804,134 probably null Het
Dscam G T 16: 97,056,460 H117N possibly damaging Het
F13a1 A G 13: 36,972,025 Y205H probably damaging Het
Fat3 A C 9: 16,006,789 L1446R probably damaging Homo
Golga4 T C 9: 118,553,457 L515S probably damaging Het
Igsf10 T G 3: 59,331,060 T567P probably damaging Het
Lamb2 T C 9: 108,482,556 V365A probably benign Het
Mepe A G 5: 104,337,376 I127M possibly damaging Het
Mpi A T 9: 57,546,549 M230K probably benign Homo
Myh4 A G 11: 67,255,457 D1447G probably null Homo
Olfr161 A G 16: 3,593,163 I256V possibly damaging Het
Olfr350 A G 2: 36,850,807 T254A probably benign Het
Panx2 T C 15: 89,068,010 Y235H probably damaging Homo
Pdzd7 A G 19: 45,036,734 W441R probably damaging Het
Poldip2 A G 11: 78,519,194 I267M probably damaging Homo
Pros1 T A 16: 62,924,639 V539E probably damaging Het
Sacs T C 14: 61,212,976 M4157T probably benign Het
Slc45a3 A G 1: 131,981,337 E424G probably benign Homo
Slc9a1 A G 4: 133,422,146 E761G probably benign Homo
Stab2 G A 10: 86,855,171 P2178L probably damaging Het
Syt4 C T 18: 31,444,221 V27I possibly damaging Homo
Thumpd1 T A 7: 119,720,576 K56* probably null Het
Tpr A G 1: 150,393,562 K19E possibly damaging Homo
Ttll10 A G 4: 156,048,318 I74T probably benign Het
Txnrd1 C T 10: 82,866,989 Q95* probably null Homo
Zc3h7b A G 15: 81,778,671 E421G possibly damaging Homo
Zc3hc1 G T 6: 30,387,526 D51E probably benign Homo
Other mutations in Hoxb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1921:Hoxb1 UTSW 11 96366112 missense probably damaging 0.99
R2352:Hoxb1 UTSW 11 96366377 missense possibly damaging 0.81
R2921:Hoxb1 UTSW 11 96366293 missense probably benign 0.30
R2922:Hoxb1 UTSW 11 96366293 missense probably benign 0.30
R2923:Hoxb1 UTSW 11 96366293 missense probably benign 0.30
R5530:Hoxb1 UTSW 11 96366928 missense probably damaging 1.00
R5715:Hoxb1 UTSW 11 96366326 missense probably benign 0.00
R6400:Hoxb1 UTSW 11 96365992 nonsense probably null
R6720:Hoxb1 UTSW 11 96366987 missense probably damaging 1.00
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to T transversion at position 145 of the Hoxb1 transcript in exon 1 of 2 total exons. Two transcripts of the Hoxb1 gene are displayed on EnsemblThe mutated nucleotide causes a threonine to serine substitution at amino acid 26 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
 
Protein Function & Prediction
The Hoxb1 gene encodes a 297 amino acid homeobox transcription factor that provides cells with specific positional identities on the anterior-posterior axis. The protein contains a homeobox domain at amino acids 199-258 (Uniprot P17919). Homozygous knockout mice display failure to form the somatic motor component of the VIIth (facial) nerve, possibly through a failure to specify these neurons.
 
The T26S change is predicted to be benign by the PolyPhen program.
Posted OnMay 03, 2010