Incidental Mutation 'IGL01487:Hoxb9'
ID88774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxb9
Ensembl Gene ENSMUSG00000020875
Gene Namehomeobox B9
SynonymsHox-2.5
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.777) question?
Stock #IGL01487
Quality Score
Status
Chromosome11
Chromosomal Location96271457-96276595 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 96274788 bp
ZygosityHeterozygous
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]
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: 88,839,449 V121A probably damaging Het
Carf A G 1: 60,109,379 H17R probably damaging Het
Col5a2 T C 1: 45,376,739 N1416S probably benign Het
Ctsm C A 13: 61,539,069 R3L probably benign Het
Dnah3 G A 7: 119,965,530 Q2626* probably null Het
Dpp3 C T 19: 4,913,892 V587I probably benign Het
Fank1 A G 7: 133,879,909 T245A probably damaging Het
Golga5 A G 12: 102,495,696 probably benign Het
Invs A G 4: 48,398,136 I441V probably benign Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Psd3 T C 8: 67,697,114 E1243G probably benign Het
Rapgefl1 C T 11: 98,847,135 H392Y probably damaging Het
Ropn1 T C 16: 34,678,469 V209A probably damaging Het
Scap G A 9: 110,377,734 probably null Het
Scn5a A G 9: 119,562,623 M1T probably null Het
Serpinb11 A T 1: 107,379,838 Y333F probably benign Het
Sf3b3 A G 8: 110,817,660 Y783H probably benign Het
Slc4a4 A G 5: 89,228,856 M990V probably benign Het
Syt3 G T 7: 44,390,999 V219F possibly damaging Het
Tmtc4 A G 14: 122,926,031 L647S probably benign Het
Other mutations in Hoxb9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02251:Hoxb9 APN 11 96274825 missense probably damaging 1.00
IGL02738:Hoxb9 APN 11 96274728 missense possibly damaging 0.87
R1467:Hoxb9 UTSW 11 96271938 missense probably benign
R1467:Hoxb9 UTSW 11 96271938 missense probably benign
R1958:Hoxb9 UTSW 11 96272054 missense possibly damaging 0.88
R4419:Hoxb9 UTSW 11 96271981 missense probably benign 0.00
R4420:Hoxb9 UTSW 11 96271981 missense probably benign 0.00
R4666:Hoxb9 UTSW 11 96274831 missense possibly damaging 0.94
R7627:Hoxb9 UTSW 11 96274695 missense probably damaging 0.99
Posted On2013-11-18