Incidental Mutation 'F6893:Hoxb1'
ID 187
Institutional Source Beutler Lab
Gene Symbol Hoxb1
Ensembl Gene ENSMUSG00000018973
Gene Name homeobox B1
Synonyms Hox-2.9
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # F6893 (G3) of strain busy
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 96256578-96259082 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96256728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 26 (T26S)
Ref Sequence ENSEMBL: ENSMUSP00000019117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019117]
AlphaFold P17919
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 0.0667 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: 119,924,261 (GRCm39) V1638M probably damaging Het
Agrn C T 4: 156,258,636 (GRCm39) R972Q probably benign Het
Anxa3 T C 5: 96,972,853 (GRCm39) probably benign Het
Bpifa6 G T 2: 153,829,078 (GRCm39) D202Y probably damaging Het
Ccdc15 G A 9: 37,226,936 (GRCm39) T346I probably damaging Homo
Celsr3 G A 9: 108,712,266 (GRCm39) R1731H probably benign Het
Ces4a A G 8: 105,873,859 (GRCm39) R443G possibly damaging Het
Chd2 T C 7: 73,157,620 (GRCm39) Q175R possibly damaging Het
Dpyd T A 3: 118,597,783 (GRCm39) probably null Het
Dscam G T 16: 96,857,660 (GRCm39) H117N possibly damaging Het
F13a1 A G 13: 37,155,999 (GRCm39) Y205H probably damaging Het
Fat3 A C 9: 15,918,085 (GRCm39) L1446R probably damaging Homo
Golga4 T C 9: 118,382,525 (GRCm39) L515S probably damaging Het
Igsf10 T G 3: 59,238,481 (GRCm39) T567P probably damaging Het
Lamb2 T C 9: 108,359,755 (GRCm39) V365A probably benign Het
Mepe A G 5: 104,485,242 (GRCm39) I127M possibly damaging Het
Mpi A T 9: 57,453,832 (GRCm39) M230K probably benign Homo
Myh4 A G 11: 67,146,283 (GRCm39) D1447G probably null Homo
Or1f19 A G 16: 3,411,027 (GRCm39) I256V possibly damaging Het
Or1j4 A G 2: 36,740,819 (GRCm39) T254A probably benign Het
Panx2 T C 15: 88,952,213 (GRCm39) Y227H probably damaging Homo
Pdzd7 A G 19: 45,025,173 (GRCm39) W441R probably damaging Het
Poldip2 A G 11: 78,410,020 (GRCm39) I267M probably damaging Homo
Pros1 T A 16: 62,745,002 (GRCm39) V539E probably damaging Het
Sacs T C 14: 61,450,425 (GRCm39) M4157T probably benign Het
Slc45a3 A G 1: 131,909,075 (GRCm39) E424G probably benign Homo
Slc9a1 A G 4: 133,149,457 (GRCm39) E761G probably benign Homo
Stab2 G A 10: 86,691,035 (GRCm39) P2178L probably damaging Het
Syt4 C T 18: 31,577,274 (GRCm39) V27I possibly damaging Homo
Thumpd1 T A 7: 119,319,799 (GRCm39) K56* probably null Het
Tpr A G 1: 150,269,313 (GRCm39) K19E possibly damaging Homo
Ttll10 A G 4: 156,132,775 (GRCm39) I74T probably benign Het
Txnrd1 C T 10: 82,702,823 (GRCm39) Q95* probably null Homo
Zc3h7b A G 15: 81,662,872 (GRCm39) E421G possibly damaging Homo
Zc3hc1 G T 6: 30,387,525 (GRCm39) D51E probably benign Homo
Other mutations in Hoxb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1921:Hoxb1 UTSW 11 96,256,938 (GRCm39) missense probably damaging 0.99
R2352:Hoxb1 UTSW 11 96,257,203 (GRCm39) missense possibly damaging 0.81
R2921:Hoxb1 UTSW 11 96,257,119 (GRCm39) missense probably benign 0.02
R2922:Hoxb1 UTSW 11 96,257,119 (GRCm39) missense probably benign 0.02
R2923:Hoxb1 UTSW 11 96,257,119 (GRCm39) missense probably benign 0.02
R5530:Hoxb1 UTSW 11 96,257,754 (GRCm39) missense probably damaging 1.00
R5715:Hoxb1 UTSW 11 96,257,152 (GRCm39) missense probably benign 0.00
R6400:Hoxb1 UTSW 11 96,256,818 (GRCm39) nonsense probably null
R6720:Hoxb1 UTSW 11 96,257,813 (GRCm39) missense probably damaging 1.00
R7311:Hoxb1 UTSW 11 96,257,927 (GRCm39) missense possibly damaging 0.47
R8835:Hoxb1 UTSW 11 96,256,627 (GRCm39) start gained probably benign
R9225:Hoxb1 UTSW 11 96,257,119 (GRCm39) missense probably benign 0.02
R9625:Hoxb1 UTSW 11 96,256,810 (GRCm39) missense probably benign 0.00
Z1176:Hoxb1 UTSW 11 96,257,877 (GRCm39) missense probably benign 0.03
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 Ensembl.  The 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 and 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 On 2010-05-03