Incidental Mutation 'IGL01290:Hoxb8'
ID 72878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxb8
Ensembl Gene ENSMUSG00000056648
Gene Name homeobox B8
Synonyms Hox-2.4
Accession Numbers
Essential gene? Probably essential (E-score: 0.792) question?
Stock # IGL01290
Quality Score
Status
Chromosome 11
Chromosomal Location 96172731-96176141 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96175093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 176 (I176V)
Ref Sequence ENSEMBL: ENSMUSP00000120351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049352] [ENSMUST00000052650] [ENSMUST00000125410] [ENSMUST00000168043]
AlphaFold P09632
Predicted Effect probably benign
Transcript: ENSMUST00000049352
SMART Domains Protein: ENSMUSP00000040121
Gene: ENSMUSG00000038721

DomainStartEndE-ValueType
low complexity region 60 72 N/A INTRINSIC
HOX 137 199 4.53e-25 SMART
low complexity region 209 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000052650
AA Change: I177V

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000052496
Gene: ENSMUSG00000056648
AA Change: I177V

DomainStartEndE-ValueType
low complexity region 112 126 N/A INTRINSIC
HOX 146 208 2.87e-27 SMART
low complexity region 216 226 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000125410
AA Change: I176V

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120351
Gene: ENSMUSG00000056648
AA Change: I176V

DomainStartEndE-ValueType
low complexity region 112 126 N/A INTRINSIC
HOX 145 191 6.33e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151596
Predicted Effect probably benign
Transcript: ENSMUST00000168043
AA Change: I177V

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128136
Gene: ENSMUSG00000056648
AA Change: I177V

DomainStartEndE-ValueType
low complexity region 112 126 N/A INTRINSIC
HOX 146 208 2.87e-27 SMART
low complexity region 216 226 N/A INTRINSIC
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 nuclear 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. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygotes for targeted null mutations exhibit delayed preweaning growth, degeneration of the second spinal ganglion, axial skeletal defects, impaired clasping, an altered gait, and excessive grooming. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik A G 11: 83,331,621 (GRCm39) H148R possibly damaging Het
Abca13 T A 11: 9,206,232 (GRCm39) H177Q probably damaging Het
Adamts18 T A 8: 114,501,575 (GRCm39) E349D probably damaging Het
Cers5 G A 15: 99,637,536 (GRCm39) R190* probably null Het
Cntnap2 C T 6: 45,992,399 (GRCm39) T442I probably benign Het
Col14a1 C T 15: 55,286,903 (GRCm39) A908V unknown Het
Ctnna2 T C 6: 76,859,543 (GRCm39) D951G possibly damaging Het
Dock3 T C 9: 106,835,599 (GRCm39) probably benign Het
Enpp2 T C 15: 54,782,998 (GRCm39) T106A possibly damaging Het
Fscn3 T C 6: 28,430,505 (GRCm39) V225A probably benign Het
Ftmt A G 18: 52,465,185 (GRCm39) N167S probably damaging Het
Gnal A G 18: 67,344,169 (GRCm39) D181G probably damaging Het
Gxylt2 A G 6: 100,727,408 (GRCm39) Y174C probably damaging Het
Hgf G A 5: 16,809,844 (GRCm39) D445N probably damaging Het
Itgbl1 A T 14: 124,204,137 (GRCm39) E285D probably benign Het
Megf8 C T 7: 25,049,083 (GRCm39) R1727* probably null Het
Nrap T C 19: 56,350,180 (GRCm39) D611G probably damaging Het
Nudt19 A G 7: 35,247,501 (GRCm39) S303P probably damaging Het
Rhcg A G 7: 79,248,342 (GRCm39) F421L probably benign Het
Ripk2 T C 4: 16,139,198 (GRCm39) probably benign Het
Rnf139 A G 15: 58,770,175 (GRCm39) I67V probably benign Het
Smarca5 A G 8: 81,454,277 (GRCm39) S256P probably benign Het
Sun3 C T 11: 8,973,341 (GRCm39) G119S possibly damaging Het
Tlr12 A C 4: 128,511,630 (GRCm39) S207A probably damaging Het
Uhrf2 T A 19: 30,016,701 (GRCm39) probably benign Het
Zdhhc16 T A 19: 41,926,487 (GRCm39) probably null Het
Other mutations in Hoxb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01921:Hoxb8 APN 11 96,175,181 (GRCm39) missense probably damaging 1.00
IGL02224:Hoxb8 APN 11 96,173,981 (GRCm39) missense probably benign 0.02
R0398:Hoxb8 UTSW 11 96,173,937 (GRCm39) missense probably damaging 1.00
R4690:Hoxb8 UTSW 11 96,175,286 (GRCm39) missense probably benign 0.34
R8887:Hoxb8 UTSW 11 96,175,223 (GRCm39) missense probably damaging 0.96
Posted On 2013-10-07