Incidental Mutation 'R5453:Hoxb3'
| ID |
432639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hoxb3
|
| Ensembl Gene |
ENSMUSG00000048763 |
| Gene Name |
homeobox B3 |
| Synonyms |
Hox-2.7 |
| MMRRC Submission |
043017-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.864)
|
| Stock # |
R5453 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
96214152-96238756 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96235480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 136
(S136P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055334]
[ENSMUST00000093944]
[ENSMUST00000123091]
|
| AlphaFold |
P09026 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055334
AA Change: S136P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000053426
Gene: ENSMUSG00000048763
AA Change: S136P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
181 |
N/A |
INTRINSIC |
|
HOX
|
191 |
253 |
5.44e-28 |
SMART |
|
low complexity region
|
256 |
274 |
N/A |
INTRINSIC |
|
Pfam:DUF4074
|
367 |
431 |
9.4e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093944
AA Change: S136P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091476
Gene: ENSMUSG00000048763
AA Change: S136P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
181 |
N/A |
INTRINSIC |
|
HOX
|
191 |
253 |
5.44e-28 |
SMART |
|
low complexity region
|
256 |
274 |
N/A |
INTRINSIC |
|
Pfam:DUF4074
|
368 |
431 |
1.9e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147410
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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 nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display partial neonatal lethality and mild and low penetrance defects in the formation of the anterior arch of the atlas and the IXth cranial nerve. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Adamts20 |
T |
C |
15: 94,223,969 (GRCm39) |
E1253G |
possibly damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,256,647 (GRCm39) |
F640S |
probably damaging |
Het |
| Anxa1 |
C |
T |
19: 20,357,703 (GRCm39) |
|
probably null |
Het |
| Babam2 |
A |
G |
5: 32,164,590 (GRCm39) |
E288G |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,289,500 (GRCm39) |
A406V |
probably damaging |
Het |
| Cdh13 |
A |
T |
8: 119,925,706 (GRCm39) |
D358V |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,953,131 (GRCm39) |
I45V |
probably benign |
Het |
| Crybg2 |
A |
T |
4: 133,806,147 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,359,330 (GRCm39) |
D3555G |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,599,099 (GRCm39) |
D1818G |
probably benign |
Het |
| Emsy |
T |
C |
7: 98,250,013 (GRCm39) |
K758R |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,908,160 (GRCm39) |
V2614A |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,003,972 (GRCm39) |
I190T |
possibly damaging |
Het |
| Hras |
A |
C |
7: 140,772,768 (GRCm39) |
V29G |
probably damaging |
Het |
| Hycc1 |
A |
G |
5: 24,192,877 (GRCm39) |
|
probably null |
Het |
| Igll1 |
A |
G |
16: 16,681,558 (GRCm39) |
|
probably null |
Het |
| Insr |
G |
A |
8: 3,205,694 (GRCm39) |
T1365I |
probably benign |
Het |
| Kitl |
T |
A |
10: 99,923,247 (GRCm39) |
W187R |
probably damaging |
Het |
| Klb |
T |
A |
5: 65,540,728 (GRCm39) |
F940L |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,172,249 (GRCm39) |
R725K |
probably damaging |
Het |
| Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
| Mrps35 |
A |
G |
6: 146,972,115 (GRCm39) |
S253G |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,438,837 (GRCm39) |
E2015K |
probably damaging |
Het |
| Nyap2 |
A |
C |
1: 81,169,857 (GRCm39) |
I205L |
probably benign |
Het |
| Or12d13 |
T |
C |
17: 37,647,953 (GRCm39) |
M57V |
possibly damaging |
Het |
| Or6k14 |
A |
G |
1: 173,927,033 (GRCm39) |
K3R |
probably benign |
Het |
| Rab11fip3 |
C |
T |
17: 26,211,555 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
A |
G |
5: 66,184,525 (GRCm39) |
V26A |
probably benign |
Het |
| Ripk2 |
A |
T |
4: 16,151,989 (GRCm39) |
I190N |
probably damaging |
Het |
| Spmip4 |
A |
G |
6: 50,572,776 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,133,905 (GRCm39) |
N1150K |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,689 (GRCm39) |
G427W |
probably damaging |
Het |
| Zfp84 |
A |
G |
7: 29,475,722 (GRCm39) |
E138G |
possibly damaging |
Het |
|
| Other mutations in Hoxb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02219:Hoxb3
|
APN |
11 |
96,236,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0082:Hoxb3
|
UTSW |
11 |
96,235,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0621:Hoxb3
|
UTSW |
11 |
96,236,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0701:Hoxb3
|
UTSW |
11 |
96,237,074 (GRCm39) |
nonsense |
probably null |
|
|
R2205:Hoxb3
|
UTSW |
11 |
96,236,494 (GRCm39) |
missense |
probably benign |
|
|
R4093:Hoxb3
|
UTSW |
11 |
96,236,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4620:Hoxb3
|
UTSW |
11 |
96,236,599 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6180:Hoxb3
|
UTSW |
11 |
96,236,929 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7522:Hoxb3
|
UTSW |
11 |
96,235,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7714:Hoxb3
|
UTSW |
11 |
96,236,606 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8427:Hoxb3
|
UTSW |
11 |
96,236,421 (GRCm39) |
unclassified |
probably benign |
|
|
R8427:Hoxb3
|
UTSW |
11 |
96,236,415 (GRCm39) |
unclassified |
probably benign |
|
|
R8438:Hoxb3
|
UTSW |
11 |
96,236,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9004:Hoxb3
|
UTSW |
11 |
96,237,137 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9622:Hoxb3
|
UTSW |
11 |
96,235,420 (GRCm39) |
nonsense |
probably null |
|
|
U24488:Hoxb3
|
UTSW |
11 |
96,235,456 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAATGGCAGCTGCATGAG -3'
(R):5'- TCAGAGGTCATCAGGTAGTGAG -3'
Sequencing Primer
(F):5'- AGCTGCATGAGGCCAGG -3'
(R):5'- TCATCAGGTAGTGAGAGGTAGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation