Incidental Mutation 'IGL01065:Hoxb6'
ID 52202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxb6
Ensembl Gene ENSMUSG00000000690
Gene Name homeobox B6
Synonyms Hox-2.2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.535) question?
Stock # IGL01065
Quality Score
Status
Chromosome 11
Chromosomal Location 96183647-96192395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96191635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 186 (T186A)
Ref Sequence ENSEMBL: ENSMUSP00000133281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000704] [ENSMUST00000049272] [ENSMUST00000173432]
AlphaFold P09023
Predicted Effect probably damaging
Transcript: ENSMUST00000000704
AA Change: T186A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000704
Gene: ENSMUSG00000000690
AA Change: T186A

DomainStartEndE-ValueType
low complexity region 54 71 N/A INTRINSIC
HOX 146 208 1.49e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000049272
SMART Domains Protein: ENSMUSP00000035423
Gene: ENSMUSG00000038700

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
low complexity region 89 103 N/A INTRINSIC
low complexity region 135 158 N/A INTRINSIC
HOX 194 256 1.63e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150698
Predicted Effect probably damaging
Transcript: ENSMUST00000173432
AA Change: T186A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133281
Gene: ENSMUSG00000000690
AA Change: T186A

DomainStartEndE-ValueType
low complexity region 54 71 N/A INTRINSIC
HOX 146 208 1.49e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190470
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit an anteriorizing homeotic transformation of the cervicothoracic vertebrae C6-T1, and frequently a missing first rib and a bifid second rib. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apob A G 12: 8,053,299 (GRCm39) Y1247C probably damaging Het
Atg16l1 A T 1: 87,713,653 (GRCm39) N401I probably damaging Het
Bcam T C 7: 19,490,724 (GRCm39) H591R probably benign Het
Bcat1 T C 6: 144,946,015 (GRCm39) S446G possibly damaging Het
C2cd5 A G 6: 143,024,005 (GRCm39) S262P probably damaging Het
Clrn1 T C 3: 58,792,446 (GRCm39) K6E probably damaging Het
D17H6S53E A T 17: 35,346,259 (GRCm39) K57* probably null Het
Dennd1a T A 2: 37,734,917 (GRCm39) I17F probably benign Het
Depdc7 A C 2: 104,552,426 (GRCm39) Y460* probably null Het
Disp3 T C 4: 148,345,640 (GRCm39) Y400C probably damaging Het
Edem3 T C 1: 151,653,302 (GRCm39) Y203H probably damaging Het
Fbxl5 A G 5: 43,902,676 (GRCm39) C679R probably damaging Het
Fhad1 T C 4: 141,632,923 (GRCm39) T1194A probably benign Het
Garin4 T C 1: 190,895,224 (GRCm39) D473G probably benign Het
Gipc2 A G 3: 151,808,294 (GRCm39) L253P possibly damaging Het
Gpr26 T C 7: 131,569,230 (GRCm39) Y192H probably damaging Het
Kif24 A G 4: 41,423,639 (GRCm39) probably benign Het
Lonp1 T C 17: 56,922,500 (GRCm39) probably benign Het
Lrp1 A G 10: 127,410,907 (GRCm39) I1427T probably benign Het
Lrp2 C T 2: 69,299,780 (GRCm39) E3091K possibly damaging Het
Lzts1 T C 8: 69,588,744 (GRCm39) N404S probably benign Het
Map3k4 A T 17: 12,451,877 (GRCm39) D1470E probably damaging Het
Med30 A T 15: 52,584,456 (GRCm39) N125Y probably benign Het
Mgam G A 6: 40,639,644 (GRCm39) probably null Het
Mrps33 G A 6: 39,779,447 (GRCm39) R83* probably null Het
Notch3 A T 17: 32,365,390 (GRCm39) Y1107* probably null Het
Rc3h2 T A 2: 37,267,856 (GRCm39) probably benign Het
Rev1 T C 1: 38,138,090 (GRCm39) E65G possibly damaging Het
Rgl1 T C 1: 152,394,893 (GRCm39) N760S probably damaging Het
Slc16a4 T C 3: 107,210,416 (GRCm39) I362T possibly damaging Het
Slc25a24 G A 3: 109,065,967 (GRCm39) probably benign Het
Slc2a4 G T 11: 69,836,782 (GRCm39) probably benign Het
Slc39a13 T A 2: 90,894,051 (GRCm39) I256F probably damaging Het
Spdya A T 17: 71,863,320 (GRCm39) N23I possibly damaging Het
Srpra T A 9: 35,124,734 (GRCm39) W112R probably damaging Het
Tbc1d4 A C 14: 101,686,629 (GRCm39) probably benign Het
Ttc39d G A 17: 80,523,703 (GRCm39) G121R probably damaging Het
Tuba3a C T 6: 125,259,920 (GRCm39) V9M possibly damaging Het
Upf2 A G 2: 5,966,111 (GRCm39) K244E unknown Het
Usp39 T C 6: 72,316,958 (GRCm39) Y141C probably damaging Het
Other mutations in Hoxb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Hoxb6 APN 11 96,191,639 (GRCm39) missense probably damaging 1.00
R4846:Hoxb6 UTSW 11 96,190,348 (GRCm39) missense probably damaging 0.99
R4945:Hoxb6 UTSW 11 96,190,085 (GRCm39) missense possibly damaging 0.61
R4993:Hoxb6 UTSW 11 96,191,537 (GRCm39) missense probably damaging 1.00
R5566:Hoxb6 UTSW 11 96,191,580 (GRCm39) nonsense probably null
R7286:Hoxb6 UTSW 11 96,183,651 (GRCm39) start gained probably benign
R7341:Hoxb6 UTSW 11 96,190,395 (GRCm39) missense probably damaging 1.00
R7422:Hoxb6 UTSW 11 96,183,510 (GRCm39) start gained probably benign
R8556:Hoxb6 UTSW 11 96,191,543 (GRCm39) missense probably damaging 1.00
R9229:Hoxb6 UTSW 11 96,191,645 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21