Incidental Mutation 'R2923:Hoxb1'
ID 255630
Institutional Source Beutler Lab
Gene Symbol Hoxb1
Ensembl Gene ENSMUSG00000018973
Gene Name homeobox B1
Synonyms Hox-2.9
MMRRC Submission 040508-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2923 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 96256578-96259082 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96257119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 156 (L156P)
Ref Sequence ENSEMBL: ENSMUSP00000019117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019117]
AlphaFold P17919
Predicted Effect probably benign
Transcript: ENSMUST00000019117
AA Change: L156P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000019117
Gene: ENSMUSG00000018973
AA Change: L156P

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 0.0761 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,467,518 (GRCm39) C368S probably damaging Het
Adamts3 T C 5: 90,009,393 (GRCm39) D90G possibly damaging Het
Astn2 T C 4: 65,832,010 (GRCm39) Y500C probably damaging Het
Atp12a A T 14: 56,612,079 (GRCm39) T418S probably benign Het
Atp6v0a2 C T 5: 124,794,981 (GRCm39) T656M possibly damaging Het
Camsap2 G A 1: 136,208,547 (GRCm39) P971S possibly damaging Het
Ccdc116 T C 16: 16,960,307 (GRCm39) H170R probably benign Het
Ccn5 G A 2: 163,674,266 (GRCm39) R222Q probably benign Het
Cemip2 A G 19: 21,795,303 (GRCm39) D732G possibly damaging Het
Clpb A G 7: 101,372,035 (GRCm39) D257G probably benign Het
Cpb2 T C 14: 75,493,473 (GRCm39) probably null Het
D430041D05Rik G A 2: 104,085,660 (GRCm39) T164I possibly damaging Het
Dhx40 T G 11: 86,680,089 (GRCm39) Q416P probably benign Het
Dnah17 A G 11: 117,984,373 (GRCm39) F1636S probably damaging Het
Fhl3 T C 4: 124,599,463 (GRCm39) S13P probably damaging Het
Gapvd1 A T 2: 34,578,875 (GRCm39) I1249N probably damaging Het
Gm10604 C T 4: 11,980,122 (GRCm39) A61T unknown Het
Gm20939 T A 17: 95,184,721 (GRCm39) H456Q probably damaging Het
Golga4 T A 9: 118,388,411 (GRCm39) S1844R possibly damaging Het
Grm6 G C 11: 50,755,348 (GRCm39) G827R probably damaging Het
Grm7 T A 6: 111,472,866 (GRCm39) probably null Het
Hdc G A 2: 126,435,910 (GRCm39) P654S probably damaging Het
Ipo9 G T 1: 135,327,867 (GRCm39) Q515K probably benign Het
Kcnk3 T C 5: 30,779,414 (GRCm39) S155P probably damaging Het
Mboat2 T A 12: 25,004,239 (GRCm39) W347R probably damaging Het
Mib1 C T 18: 10,760,831 (GRCm39) Q374* probably null Het
Ncor2 A G 5: 125,132,855 (GRCm39) F44S probably damaging Het
Nipal3 A T 4: 135,204,776 (GRCm39) I125N probably damaging Het
Or4c113 A G 2: 88,884,843 (GRCm39) V309A probably benign Het
Or51a43 A G 7: 103,717,794 (GRCm39) V148A probably benign Het
Ovch2 A G 7: 107,389,596 (GRCm39) L317P possibly damaging Het
Pnpla2 T A 7: 141,035,380 (GRCm39) C61S probably benign Het
Ppp1r16b G T 2: 158,598,877 (GRCm39) L312F probably damaging Het
Rdm1 T A 11: 101,521,716 (GRCm39) L157H possibly damaging Het
Rpl22 C A 4: 152,412,002 (GRCm39) T26N possibly damaging Het
Rptn A G 3: 93,306,015 (GRCm39) Y1116C possibly damaging Het
Serpinb5 G A 1: 106,803,770 (GRCm39) S152N probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
St8sia1 A T 6: 142,774,963 (GRCm39) F205L probably damaging Het
Stab2 A G 10: 86,697,325 (GRCm39) Y1988H probably damaging Het
Susd3 A T 13: 49,401,945 (GRCm39) M1K probably null Het
Syne3 A T 12: 104,934,343 (GRCm39) L55Q probably damaging Het
Tmx1 T A 12: 70,512,895 (GRCm39) C268S probably benign Het
Ttll1 T C 15: 83,376,760 (GRCm39) K321R probably damaging Het
Zdhhc18 G T 4: 133,360,455 (GRCm39) H82Q probably benign Het
Zhx1 T C 15: 57,917,077 (GRCm39) I390V probably damaging Het
Other mutations in Hoxb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
F6893:Hoxb1 UTSW 11 96,256,728 (GRCm39) missense probably benign 0.04
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
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
Predicted Primers PCR Primer
(F):5'- GCTATGGGCCTTCTCAGTATTATTC -3'
(R):5'- ATCTGCTGACTTGAACCCGG -3'

Sequencing Primer
(F):5'- CTCAGTATTATTCTGTGGGTCAGTC -3'
(R):5'- TTGAACCCGGAAAGTACTTACCTG -3'
Posted On 2014-12-29