Incidental Mutation 'R2922:Hoxb1'
ID 255588
Institutional Source Beutler Lab
Gene Symbol Hoxb1
Ensembl Gene ENSMUSG00000018973
Gene Name homeobox B1
Synonyms Hox-2.9
MMRRC Submission 040507-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2922 (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: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (43/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 90,009,393 (GRCm39) D90G possibly damaging Het
Atp6v0a2 C T 5: 124,794,981 (GRCm39) T656M possibly damaging Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 127,960,946 (GRCm39) probably null Het
Bsn C T 9: 107,985,385 (GRCm39) V2890M unknown Het
Bsn T C 9: 107,992,668 (GRCm39) E1028G probably damaging Het
Ccdc116 T C 16: 16,960,307 (GRCm39) H170R probably benign Het
Cdk11b CAGAAGAAG CAGAAG 4: 155,725,201 (GRCm39) 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
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dlgap5 A G 14: 47,627,898 (GRCm39) probably null Het
Dmwd T C 7: 18,810,270 (GRCm39) F26L probably damaging Het
Eif5b T C 1: 38,057,100 (GRCm39) probably benign Het
Flii A G 11: 60,609,742 (GRCm39) Y622H probably damaging Het
Gbp7 A T 3: 142,240,333 (GRCm39) E17V probably benign Het
Ghrh T C 2: 157,173,797 (GRCm39) probably null 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
Hgd T C 16: 37,439,330 (GRCm39) F213L probably damaging Het
Itga11 A G 9: 62,675,912 (GRCm39) probably benign Het
Kcnn3 T C 3: 89,428,329 (GRCm39) V185A probably damaging Het
Lrriq1 T C 10: 103,050,536 (GRCm39) T739A probably benign Het
Mib1 C T 18: 10,760,831 (GRCm39) Q374* probably null Het
Myh9 A G 15: 77,697,384 (GRCm39) L10P probably damaging Het
Ncor2 A G 5: 125,132,855 (GRCm39) F44S probably damaging Het
Nr3c1 C A 18: 39,620,156 (GRCm39) A44S possibly damaging Het
Or10n1 G A 9: 39,525,060 (GRCm39) V66I 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
Pcolce2 T A 9: 95,576,767 (GRCm39) L346Q probably damaging Het
Rdm1 T A 11: 101,521,716 (GRCm39) L157H possibly damaging Het
Rptn A G 3: 93,306,015 (GRCm39) Y1116C possibly damaging Het
Scn7a A G 2: 66,530,551 (GRCm39) probably benign Het
Slc24a2 A G 4: 86,909,591 (GRCm39) V660A possibly damaging Het
Tet3 A G 6: 83,345,494 (GRCm39) S1648P probably damaging Het
Tmem198b G A 10: 128,638,062 (GRCm39) T167I probably damaging Het
Tmx1 T A 12: 70,512,895 (GRCm39) C268S probably benign Het
Ubr4 A G 4: 139,206,811 (GRCm39) N4886S possibly damaging Het
Usp47 A G 7: 111,692,405 (GRCm39) S956G probably damaging Het
Vmn2r60 T A 7: 41,790,459 (GRCm39) V482E probably damaging Het
Zfhx4 C T 3: 5,468,724 (GRCm39) P2986S probably damaging Het
Zfp507 T C 7: 35,494,224 (GRCm39) E273G 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
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
Predicted Primers PCR Primer
(F):5'- CTCAGTATTATTCTGTGGGTCAGTC -3'
(R):5'- ATCTGCTGACTTGAACCCGG -3'

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