Incidental Mutation 'IGL01921:Hoxb8'
ID 180107
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: 0.780) question?
Stock # IGL01921
Quality Score
Status
Chromosome 11
Chromosomal Location 96172731-96176141 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96175181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 206 (N206I)
Ref Sequence ENSEMBL: ENSMUSP00000128136 (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 damaging
Transcript: ENSMUST00000052650
AA Change: N206I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052496
Gene: ENSMUSG00000056648
AA Change: N206I

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 probably benign
Transcript: ENSMUST00000125410
SMART Domains Protein: ENSMUSP00000120351
Gene: ENSMUSG00000056648

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 damaging
Transcript: ENSMUST00000168043
AA Change: N206I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128136
Gene: ENSMUSG00000056648
AA Change: N206I

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l C A 8: 44,078,548 (GRCm39) V559L probably damaging Het
Agtpbp1 T C 13: 59,660,297 (GRCm39) T310A possibly damaging Het
Ccdc102a T C 8: 95,640,019 (GRCm39) T92A probably damaging Het
Ciao1 C T 2: 127,084,755 (GRCm39) V328I probably benign Het
Col12a1 T A 9: 79,557,299 (GRCm39) Q1943L possibly damaging Het
Diaph1 T C 18: 37,989,261 (GRCm39) D898G possibly damaging Het
Dio3 A T 12: 110,245,789 (GRCm39) T42S possibly damaging Het
Dnah8 T A 17: 30,955,115 (GRCm39) I2048N probably benign Het
Egr2 T A 10: 67,376,208 (GRCm39) probably null Het
Epc2 T A 2: 49,422,209 (GRCm39) Y368N probably damaging Het
Furin A G 7: 80,045,702 (GRCm39) probably benign Het
Gga1 T C 15: 78,777,995 (GRCm39) M620T possibly damaging Het
Gm21976 T A 13: 98,441,829 (GRCm39) Y45* probably null Het
Gpn1 T C 5: 31,656,612 (GRCm39) V105A probably damaging Het
Kif15 T A 9: 122,808,569 (GRCm39) L67Q probably damaging Het
Krt40 T A 11: 99,433,989 (GRCm39) probably benign Het
Mat1a T C 14: 40,836,292 (GRCm39) probably benign Het
Mkrn1 T C 6: 39,382,847 (GRCm39) D99G possibly damaging Het
Plxnb2 T C 15: 89,048,474 (GRCm39) Y645C possibly damaging Het
Ppp1r13b A G 12: 111,799,671 (GRCm39) V702A probably benign Het
Ppp4r4 G T 12: 103,542,569 (GRCm39) M1I probably null Het
Prss21 T A 17: 24,091,414 (GRCm39) M217K possibly damaging Het
R3hcc1l A G 19: 42,552,220 (GRCm39) S406G possibly damaging Het
Rfesd T C 13: 76,156,385 (GRCm39) E7G probably benign Het
Ripk4 T C 16: 97,544,565 (GRCm39) E694G possibly damaging Het
Rlf T C 4: 121,003,943 (GRCm39) D1679G probably damaging Het
Ryr2 C T 13: 11,569,436 (GRCm39) C4956Y possibly damaging Het
Scart1 G T 7: 139,808,632 (GRCm39) E848* probably null Het
Uri1 T A 7: 37,681,072 (GRCm39) K111* probably null Het
Usf1 A G 1: 171,244,424 (GRCm39) E108G possibly damaging Het
Vmn1r71 C A 7: 10,482,199 (GRCm39) R163L probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r86 T C 10: 130,291,610 (GRCm39) T52A probably benign Het
Washc5 A T 15: 59,213,958 (GRCm39) probably null Het
Zfp583 T C 7: 6,328,569 (GRCm39) T7A possibly damaging Het
Zim1 T G 7: 6,685,184 (GRCm39) probably benign Het
Other mutations in Hoxb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Hoxb8 APN 11 96,175,093 (GRCm39) missense possibly damaging 0.77
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 2014-05-07