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)
|
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*
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |