Incidental Mutation 'IGL01390:Hoxb7'
ID 79172
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxb7
Ensembl Gene ENSMUSG00000038721
Gene Name homeobox B7
Synonyms Hox-2.3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.447) question?
Stock # IGL01390
Quality Score
Status
Chromosome 11
Chromosomal Location 96177449-96180988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 96177837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 95 (N95T)
Ref Sequence ENSEMBL: ENSMUSP00000040121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049352] [ENSMUST00000052650] [ENSMUST00000125410] [ENSMUST00000168043]
AlphaFold P09024
Predicted Effect probably benign
Transcript: ENSMUST00000049352
AA Change: N95T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040121
Gene: ENSMUSG00000038721
AA Change: N95T

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
SMART Domains Protein: ENSMUSP00000052496
Gene: ENSMUSG00000056648

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: ENSMUST00000150698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151596
Predicted Effect probably benign
Transcript: ENSMUST00000168043
SMART Domains Protein: ENSMUSP00000128136
Gene: ENSMUSG00000056648

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 protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of melanoma and ovarian carcinoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit first and second rib defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v0a1 A G 11: 100,934,628 (GRCm39) K565R probably benign Het
Cacna2d3 T C 14: 28,665,548 (GRCm39) T158A possibly damaging Het
Dnah5 A G 15: 28,411,686 (GRCm39) D3685G probably benign Het
Dock1 T C 7: 134,346,776 (GRCm39) I236T possibly damaging Het
Dock6 A G 9: 21,714,341 (GRCm39) V1803A probably damaging Het
Epb41 T C 4: 131,731,048 (GRCm39) I178V probably benign Het
Gm10110 C A 14: 90,135,677 (GRCm39) noncoding transcript Het
H2ac6 T C 13: 23,867,499 (GRCm39) probably benign Het
Ikzf2 C A 1: 69,609,801 (GRCm39) C116F probably damaging Het
Ints8 A T 4: 11,218,679 (GRCm39) probably benign Het
Itprid1 C T 6: 55,874,983 (GRCm39) P311L probably benign Het
Man2a1 T C 17: 65,017,700 (GRCm39) Y649H probably benign Het
Mcm8 T C 2: 132,679,998 (GRCm39) probably benign Het
Msi1 T A 5: 115,576,780 (GRCm39) D137E possibly damaging Het
Or8u10 T C 2: 85,915,984 (GRCm39) I46V probably benign Het
Pde6c A G 19: 38,150,376 (GRCm39) Y507C probably benign Het
Prl7d1 A G 13: 27,894,149 (GRCm39) V140A possibly damaging Het
Rb1 T A 14: 73,532,439 (GRCm39) I132F probably benign Het
Rgl1 A G 1: 152,447,339 (GRCm39) probably benign Het
Rpl18a G T 8: 71,348,154 (GRCm39) probably benign Het
Sf3b1 T C 1: 55,026,588 (GRCm39) I1274V probably benign Het
Slc9a3 A C 13: 74,298,880 (GRCm39) I100L probably benign Het
Sorcs3 T A 19: 48,778,570 (GRCm39) Y996N probably damaging Het
Sra1 A G 18: 36,803,134 (GRCm39) L37P probably damaging Het
Stim1 A G 7: 102,076,369 (GRCm39) Q440R possibly damaging Het
Tacc3 C T 5: 33,825,405 (GRCm39) probably benign Het
Tas2r104 T A 6: 131,662,448 (GRCm39) Y87F probably benign Het
Tbl2 T C 5: 135,185,217 (GRCm39) probably benign Het
Vsig10l C T 7: 43,115,889 (GRCm39) S410F probably damaging Het
Other mutations in Hoxb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02646:Hoxb7 APN 11 96,177,570 (GRCm39) missense possibly damaging 0.82
IGL02852:Hoxb7 APN 11 96,180,320 (GRCm39) missense possibly damaging 0.65
R1789:Hoxb7 UTSW 11 96,177,607 (GRCm39) missense probably damaging 0.96
R4928:Hoxb7 UTSW 11 96,180,336 (GRCm39) splice site probably null
R6326:Hoxb7 UTSW 11 96,177,909 (GRCm39) missense probably benign 0.00
R6532:Hoxb7 UTSW 11 96,177,714 (GRCm39) nonsense probably null
R9432:Hoxb7 UTSW 11 96,177,617 (GRCm39) missense possibly damaging 0.89
Posted On 2013-11-05