Incidental Mutation 'IGL01487:Hoxb9'
ID 88774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxb9
Ensembl Gene ENSMUSG00000020875
Gene Name homeobox B9
Synonyms Hox-2.5
Accession Numbers
Essential gene? Possibly essential (E-score: 0.717) question?
Stock # IGL01487
Quality Score
Status
Chromosome 11
Chromosomal Location 96162283-96167421 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 96165614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 228 (Q228*)
Ref Sequence ENSEMBL: ENSMUSP00000000010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000010] [ENSMUST00000174042]
AlphaFold P20615
Predicted Effect probably null
Transcript: ENSMUST00000000010
AA Change: Q228*
SMART Domains Protein: ENSMUSP00000000010
Gene: ENSMUSG00000020875
AA Change: Q228*

DomainStartEndE-ValueType
Pfam:Hox9_act 1 172 2.1e-59 PFAM
HOX 185 247 2.68e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174042
SMART Domains Protein: ENSMUSP00000133919
Gene: ENSMUSG00000020875

DomainStartEndE-ValueType
Pfam:Hox9_act 1 96 5e-42 PFAM
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 Abd-B 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 leukemia, prostate cancer and lung cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations affect developing thoracic skeletal elements. Homozygotes exhibit rib fusion, abnormal rib attachment to the sternum, and reduced intercostal segments of the sternum. Homozygotes or heterozygotes may show an eighth rib attached to the sternum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,816,431 (GRCm39) V121A probably damaging Het
Carf A G 1: 60,148,538 (GRCm39) H17R probably damaging Het
Col5a2 T C 1: 45,415,899 (GRCm39) N1416S probably benign Het
Ctsm C A 13: 61,686,883 (GRCm39) R3L probably benign Het
Dnah3 G A 7: 119,564,753 (GRCm39) Q2626* probably null Het
Dpp3 C T 19: 4,963,920 (GRCm39) V587I probably benign Het
Fank1 A G 7: 133,481,638 (GRCm39) T245A probably damaging Het
Golga5 A G 12: 102,461,955 (GRCm39) probably benign Het
Invs A G 4: 48,398,136 (GRCm39) I441V probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Psd3 T C 8: 68,149,766 (GRCm39) E1243G probably benign Het
Rapgefl1 C T 11: 98,737,961 (GRCm39) H392Y probably damaging Het
Ropn1 T C 16: 34,498,839 (GRCm39) V209A probably damaging Het
Scap G A 9: 110,206,802 (GRCm39) probably null Het
Scn5a A G 9: 119,391,689 (GRCm39) M1T probably null Het
Serpinb11 A T 1: 107,307,568 (GRCm39) Y333F probably benign Het
Sf3b3 A G 8: 111,544,292 (GRCm39) Y783H probably benign Het
Slc4a4 A G 5: 89,376,715 (GRCm39) M990V probably benign Het
Syt3 G T 7: 44,040,423 (GRCm39) V219F possibly damaging Het
Tmtc4 A G 14: 123,163,443 (GRCm39) L647S probably benign Het
Other mutations in Hoxb9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02251:Hoxb9 APN 11 96,165,651 (GRCm39) missense probably damaging 1.00
IGL02738:Hoxb9 APN 11 96,165,554 (GRCm39) missense possibly damaging 0.87
R1467:Hoxb9 UTSW 11 96,162,764 (GRCm39) missense probably benign
R1467:Hoxb9 UTSW 11 96,162,764 (GRCm39) missense probably benign
R1958:Hoxb9 UTSW 11 96,162,880 (GRCm39) missense possibly damaging 0.88
R4419:Hoxb9 UTSW 11 96,162,807 (GRCm39) missense probably benign 0.00
R4420:Hoxb9 UTSW 11 96,162,807 (GRCm39) missense probably benign 0.00
R4666:Hoxb9 UTSW 11 96,165,657 (GRCm39) missense possibly damaging 0.94
R7627:Hoxb9 UTSW 11 96,165,521 (GRCm39) missense probably damaging 0.99
R7821:Hoxb9 UTSW 11 96,162,537 (GRCm39) missense probably damaging 1.00
R7965:Hoxb9 UTSW 11 96,165,464 (GRCm39) missense probably benign 0.38
R8878:Hoxb9 UTSW 11 96,165,557 (GRCm39) missense probably damaging 1.00
R9259:Hoxb9 UTSW 11 96,162,762 (GRCm39) missense probably damaging 1.00
R9502:Hoxb9 UTSW 11 96,162,544 (GRCm39) missense probably benign 0.21
Posted On 2013-11-18