Incidental Mutation 'R5715:Hoxb1'
ID 451131
Institutional Source Beutler Lab
Gene Symbol Hoxb1
Ensembl Gene ENSMUSG00000018973
Gene Name homeobox B1
Synonyms Hox-2.9
MMRRC Submission 043336-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5715 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 96256578-96259082 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96257152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 167 (E167G)
Ref Sequence ENSEMBL: ENSMUSP00000019117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019117]
AlphaFold P17919
Predicted Effect probably benign
Transcript: ENSMUST00000019117
AA Change: E167G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000019117
Gene: ENSMUSG00000018973
AA Change: E167G

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,910,777 (GRCm39) Y552F probably damaging Het
Asprv1 T A 6: 86,605,596 (GRCm39) D147E probably benign Het
Atg4c G T 4: 99,146,639 (GRCm39) L405F probably damaging Het
Birc6 C T 17: 74,938,615 (GRCm39) L2670F probably damaging Het
Cdc20 T C 4: 118,292,015 (GRCm39) D379G probably damaging Het
Chd6 T C 2: 160,791,798 (GRCm39) M2520V probably benign Het
Clca4b A G 3: 144,619,018 (GRCm39) V707A probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Col12a1 A T 9: 79,523,347 (GRCm39) C2743* probably null Het
Coq6 C A 12: 84,413,681 (GRCm39) D70E probably benign Het
Cspg4 T A 9: 56,798,335 (GRCm39) V1450D possibly damaging Het
Dnah7a A G 1: 53,452,937 (GRCm39) L3847P probably damaging Het
Drd2 T A 9: 49,316,189 (GRCm39) H316Q probably benign Het
Dusp19 T A 2: 80,461,330 (GRCm39) N206K probably benign Het
Fam13c T G 10: 70,370,670 (GRCm39) F270C probably damaging Het
Fam20a T C 11: 109,569,257 (GRCm39) E246G probably damaging Het
Fbxo31 A G 8: 122,305,302 (GRCm39) F65L probably damaging Het
Fshr T A 17: 89,293,824 (GRCm39) probably null Het
Fstl4 T C 11: 52,891,243 (GRCm39) V127A possibly damaging Het
Gdpd4 A T 7: 97,610,804 (GRCm39) I75F probably benign Het
Grm5 C A 7: 87,779,464 (GRCm39) A968E probably benign Het
Gucy2g A C 19: 55,221,587 (GRCm39) F305V possibly damaging Het
Hivep3 T C 4: 119,953,570 (GRCm39) F629L probably benign Het
Hoxd4 T C 2: 74,557,708 (GRCm39) L29P probably damaging Het
Ikbkb A G 8: 23,168,866 (GRCm39) L211P probably damaging Het
Insc T C 7: 114,449,076 (GRCm39) V499A probably benign Het
Irak3 A T 10: 119,978,641 (GRCm39) H511Q possibly damaging Het
Itpripl1 T C 2: 126,983,927 (GRCm39) E65G probably damaging Het
Lurap1l T A 4: 80,871,958 (GRCm39) S150R possibly damaging Het
Mab21l3 C T 3: 101,730,723 (GRCm39) R172Q probably benign Het
Macf1 T C 4: 123,577,807 (GRCm39) D59G probably damaging Het
Mettl21a A T 1: 64,654,314 (GRCm39) S68T probably benign Het
Mlxip T A 5: 123,578,121 (GRCm39) W146R probably damaging Het
Mpp2 T A 11: 101,953,087 (GRCm39) N285I probably damaging Het
Mrgprb4 T C 7: 47,848,787 (GRCm39) N47S probably damaging Het
Msi2 A G 11: 88,276,889 (GRCm39) Y237H probably damaging Het
Muc4 C T 16: 32,570,734 (GRCm39) T598I possibly damaging Het
Musk A T 4: 58,333,663 (GRCm39) I253F probably damaging Het
Myo5b G T 18: 74,875,246 (GRCm39) C1550F possibly damaging Het
Nckap5l T C 15: 99,321,457 (GRCm39) T1137A probably benign Het
Neb T C 2: 52,141,780 (GRCm39) D3009G probably damaging Het
Nxph1 T A 6: 9,247,740 (GRCm39) V237E probably damaging Het
Or52a33 A C 7: 103,289,009 (GRCm39) S113A probably damaging Het
Pla2g12a A G 3: 129,688,591 (GRCm39) K150E probably damaging Het
Potegl T C 2: 23,097,989 (GRCm39) Y56H possibly damaging Het
Pramel30 A G 4: 144,057,870 (GRCm39) D159G possibly damaging Het
Ptpn23 G A 9: 110,216,143 (GRCm39) R1238W probably damaging Het
Pts C T 9: 50,433,578 (GRCm39) G124R probably damaging Het
Rfk A T 19: 17,376,002 (GRCm39) I99F probably benign Het
Rictor A T 15: 6,780,197 (GRCm39) R151* probably null Het
Scn2a T A 2: 65,547,928 (GRCm39) I1040N probably benign Het
Serinc5 A C 13: 92,842,710 (GRCm39) T387P probably damaging Het
Sh3bp5l A G 11: 58,236,841 (GRCm39) Q266R possibly damaging Het
Slc14a2 T C 18: 78,201,551 (GRCm39) Y656C probably damaging Het
Slc26a3 T A 12: 31,498,842 (GRCm39) probably null Het
Slc3a2 G T 19: 8,685,594 (GRCm39) H168Q probably benign Het
Smarca2 A T 19: 26,626,522 (GRCm39) I449L probably benign Het
Smarcc1 T C 9: 110,025,435 (GRCm39) V704A possibly damaging Het
Sox13 A G 1: 133,313,921 (GRCm39) probably null Het
Sptbn5 T C 2: 119,902,985 (GRCm39) E7G probably damaging Het
Stard10 A G 7: 100,971,110 (GRCm39) D26G probably damaging Het
Tap1 A T 17: 34,411,868 (GRCm39) R91* probably null Het
Tgfbrap1 A T 1: 43,099,097 (GRCm39) V239D possibly damaging Het
Tmem209 A T 6: 30,497,922 (GRCm39) Y124* probably null Het
Tmprss2 T A 16: 97,370,183 (GRCm39) E327V possibly damaging Het
Ttbk1 T C 17: 46,790,133 (GRCm39) Y104C probably damaging Het
Ttll10 A T 4: 156,129,848 (GRCm39) F154I probably damaging Het
Ubn2 T A 6: 38,438,412 (GRCm39) Y40* probably null Het
Ubr5 A T 15: 38,002,477 (GRCm39) S1519T probably benign Het
Ugt3a1 A C 15: 9,306,430 (GRCm39) D193A probably damaging Het
Upf1 A T 8: 70,805,628 (GRCm39) Y6N probably damaging Het
Vmn2r103 A T 17: 20,015,201 (GRCm39) D447V probably benign Het
Vps39 T C 2: 120,155,717 (GRCm39) N519S possibly damaging Het
Zfp109 T C 7: 23,928,995 (GRCm39) E138G possibly damaging Het
Znrf3 A C 11: 5,236,239 (GRCm39) V157G possibly 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
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
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'- TGGAAGCTATTTTCATCCGTCG -3'
(R):5'- TAGCCCGTGGGAAAATATCTGC -3'

Sequencing Primer
(F):5'- GAAGCTATTTTCATCCGTCGAGCTAC -3'
(R):5'- TATCTGCTGACTTGAACCCGGAAAG -3'
Posted On 2017-01-03