Incidental Mutation 'IGL02646:Hoxb7'
ID301942
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxb7
Ensembl Gene ENSMUSG00000038721
Gene Namehomeobox B7
SynonymsHox-2.3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.539) question?
Stock #IGL02646
Quality Score
Status
Chromosome11
Chromosomal Location96286623-96290162 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 96286744 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 6 (Y6F)
Ref Sequence ENSEMBL: ENSMUSP00000040121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049352] [ENSMUST00000052650] [ENSMUST00000125410] [ENSMUST00000168043]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049352
AA Change: Y6F

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040121
Gene: ENSMUSG00000038721
AA Change: Y6F

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T A 4: 137,454,790 Y85* probably null Het
Abcg2 A G 6: 58,685,696 I508V probably benign Het
Adgrb2 T C 4: 130,019,282 probably null Het
Api5 T A 2: 94,429,839 H24L possibly damaging Het
Apoh T C 11: 108,412,142 V311A probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Brca2 G T 5: 150,560,790 V2994L possibly damaging Het
Brd1 A T 15: 88,700,877 V918D probably damaging Het
Calr3 T G 8: 72,443,460 D43A possibly damaging Het
Cdh16 T C 8: 104,622,105 probably null Het
Cep192 T C 18: 67,862,477 S2033P probably damaging Het
Dnah7a G A 1: 53,525,035 T1955M probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Dync1i1 A G 6: 5,767,034 D86G probably benign Het
Eri2 T C 7: 119,786,108 D390G possibly damaging Het
Fank1 C T 7: 133,880,029 probably benign Het
Hspg2 A C 4: 137,551,848 S3081R possibly damaging Het
Kcnt1 T A 2: 25,900,880 probably benign Het
Kdelc2 A G 9: 53,384,251 D51G probably benign Het
Med13 A G 11: 86,283,386 I1762T probably benign Het
Mia2 A G 12: 59,108,836 D445G probably damaging Het
Olfr1099 T C 2: 86,959,353 Y35C probably damaging Het
Plcg2 A T 8: 117,603,883 I827F possibly damaging Het
Rnls C A 19: 33,138,284 probably benign Het
Scn1a A T 2: 66,299,618 probably null Het
Sec22b T A 3: 97,921,245 V208E possibly damaging Het
Slc8a3 A T 12: 81,315,094 I317N probably damaging Het
Snx33 A G 9: 56,926,759 Y9H probably damaging Het
Stard9 C A 2: 120,698,992 T1910N probably damaging Het
Tas2r122 T A 6: 132,711,790 I47F probably damaging Het
Tedc1 T G 12: 113,157,301 L118V possibly damaging Het
Tln2 A T 9: 67,255,996 S1090T probably benign Het
Tpcn2 T C 7: 145,258,574 D511G probably benign Het
Usp21 T C 1: 171,283,095 probably benign Het
Vmn2r17 T A 5: 109,453,080 L748Q probably damaging Het
Zp2 T C 7: 120,135,341 D495G possibly damaging Het
Other mutations in Hoxb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01390:Hoxb7 APN 11 96287011 missense probably benign 0.00
IGL02852:Hoxb7 APN 11 96289494 missense possibly damaging 0.65
R1789:Hoxb7 UTSW 11 96286781 missense probably damaging 0.96
R4928:Hoxb7 UTSW 11 96289510 unclassified probably null
R6326:Hoxb7 UTSW 11 96287083 missense probably benign 0.00
R6532:Hoxb7 UTSW 11 96286888 nonsense probably null
Posted On2015-04-16