Incidental Mutation 'IGL02646:Hoxb7'
ID 301942
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 # IGL02646
Quality Score
Status
Chromosome 11
Chromosomal Location 96177449-96180988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96177570 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P09024
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: 137,182,101 (GRCm39) Y85* probably null Het
Abcg2 A G 6: 58,662,681 (GRCm39) I508V probably benign Het
Adgrb2 T C 4: 129,913,075 (GRCm39) probably null Het
Api5 T A 2: 94,260,184 (GRCm39) H24L possibly damaging Het
Apoh T C 11: 108,302,968 (GRCm39) V311A probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Brca2 G T 5: 150,484,255 (GRCm39) V2994L possibly damaging Het
Brd1 A T 15: 88,585,080 (GRCm39) V918D probably damaging Het
Calr3 T G 8: 73,197,304 (GRCm39) D43A possibly damaging Het
Cdh16 T C 8: 105,348,737 (GRCm39) probably null Het
Cep192 T C 18: 67,995,548 (GRCm39) S2033P probably damaging Het
Dnah7a G A 1: 53,564,194 (GRCm39) T1955M probably damaging Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Eri2 T C 7: 119,385,331 (GRCm39) D390G possibly damaging Het
Fank1 C T 7: 133,481,758 (GRCm39) probably benign Het
Hspg2 A C 4: 137,279,159 (GRCm39) S3081R possibly damaging Het
Kcnt1 T A 2: 25,790,892 (GRCm39) probably benign Het
Med13 A G 11: 86,174,212 (GRCm39) I1762T probably benign Het
Mia2 A G 12: 59,155,622 (GRCm39) D445G probably damaging Het
Or8h9 T C 2: 86,789,697 (GRCm39) Y35C probably damaging Het
Plcg2 A T 8: 118,330,622 (GRCm39) I827F possibly damaging Het
Poglut3 A G 9: 53,295,551 (GRCm39) D51G probably benign Het
Rnls C A 19: 33,115,684 (GRCm39) probably benign Het
Scn1a A T 2: 66,129,962 (GRCm39) probably null Het
Sec22b T A 3: 97,828,561 (GRCm39) V208E possibly damaging Het
Slc8a3 A T 12: 81,361,868 (GRCm39) I317N probably damaging Het
Snx33 A G 9: 56,834,043 (GRCm39) Y9H probably damaging Het
Stard9 C A 2: 120,529,473 (GRCm39) T1910N probably damaging Het
Tas2r122 T A 6: 132,688,753 (GRCm39) I47F probably damaging Het
Tedc1 T G 12: 113,120,921 (GRCm39) L118V possibly damaging Het
Tln2 A T 9: 67,163,278 (GRCm39) S1090T probably benign Het
Tpcn2 T C 7: 144,812,311 (GRCm39) D511G probably benign Het
Usp21 T C 1: 171,110,669 (GRCm39) probably benign Het
Vmn2r17 T A 5: 109,600,946 (GRCm39) L748Q probably damaging Het
Zp2 T C 7: 119,734,564 (GRCm39) D495G possibly damaging Het
Other mutations in Hoxb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01390:Hoxb7 APN 11 96,177,837 (GRCm39) missense probably benign 0.00
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 2015-04-16