Incidental Mutation 'IGL03274:Pbx4'
| ID |
415364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pbx4
|
| Ensembl Gene |
ENSMUSG00000031860 |
| Gene Name |
pre B cell leukemia homeobox 4 |
| Synonyms |
2410015M21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.420)
|
| Stock # |
IGL03274
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70285141-70324942 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70319200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 244
(S244C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081503]
[ENSMUST00000131637]
[ENSMUST00000132899]
[ENSMUST00000134777]
[ENSMUST00000156319]
|
| AlphaFold |
Q99NE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081503
AA Change: S244C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080219
Gene: ENSMUSG00000031860
AA Change: S244C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
Pfam:PBC
|
24 |
214 |
1.2e-89 |
PFAM |
|
HOX
|
215 |
280 |
3.44e-16 |
SMART |
|
low complexity region
|
356 |
370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131637
|
| SMART Domains |
Protein: ENSMUSP00000121369
Gene: ENSMUSG00000031860
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
19 |
75 |
3.4e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132259
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132899
|
| SMART Domains |
Protein: ENSMUSP00000118287
Gene: ENSMUSG00000031860
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
19 |
74 |
1.6e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134777
|
| SMART Domains |
Protein: ENSMUSP00000122281
Gene: ENSMUSG00000031860
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
19 |
84 |
5.8e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135952
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156251
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156319
|
| SMART Domains |
Protein: ENSMUSP00000119526
Gene: ENSMUSG00000031860
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
19 |
75 |
1.3e-25 |
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 encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adissp |
A |
T |
2: 130,995,512 (GRCm39) |
|
probably null |
Het |
| Anln |
C |
A |
9: 22,293,565 (GRCm39) |
R26M |
probably damaging |
Het |
| Capn15 |
A |
T |
17: 26,180,812 (GRCm39) |
S753T |
probably damaging |
Het |
| Ccdc62 |
A |
G |
5: 124,092,743 (GRCm39) |
N576S |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,508,900 (GRCm39) |
D2895G |
probably damaging |
Het |
| Dspp |
T |
A |
5: 104,322,814 (GRCm39) |
V37E |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,611,919 (GRCm39) |
D587V |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,752,450 (GRCm39) |
D1473G |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,582,090 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
T |
C |
15: 85,116,879 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
A |
G |
5: 105,230,652 (GRCm39) |
V424A |
possibly damaging |
Het |
| Gda |
T |
C |
19: 21,394,371 (GRCm39) |
Y236C |
possibly damaging |
Het |
| Gm4884 |
A |
G |
7: 40,693,969 (GRCm39) |
E646G |
probably damaging |
Het |
| Gm4952 |
C |
A |
19: 12,600,960 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
G |
T |
10: 31,126,348 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
C |
T |
6: 135,757,253 (GRCm39) |
D403N |
possibly damaging |
Het |
| Hsf2bp |
G |
A |
17: 32,226,744 (GRCm39) |
R204C |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,310,442 (GRCm39) |
E488G |
probably damaging |
Het |
| Kat6b |
G |
T |
14: 21,659,831 (GRCm39) |
D212Y |
possibly damaging |
Het |
| Kctd2 |
A |
C |
11: 115,320,208 (GRCm39) |
I247L |
possibly damaging |
Het |
| Kel |
T |
A |
6: 41,664,929 (GRCm39) |
|
probably null |
Het |
| Krt20 |
A |
T |
11: 99,320,855 (GRCm39) |
|
probably benign |
Het |
| Litaf |
T |
C |
16: 10,784,433 (GRCm39) |
T26A |
probably damaging |
Het |
| N4bp2l2 |
G |
T |
5: 150,584,931 (GRCm39) |
Q350K |
probably damaging |
Het |
| Nav2 |
T |
G |
7: 49,011,847 (GRCm39) |
I26S |
probably damaging |
Het |
| Nfya |
A |
G |
17: 48,698,375 (GRCm39) |
Y162H |
probably damaging |
Het |
| Or2g25 |
C |
T |
17: 37,970,646 (GRCm39) |
A193T |
probably benign |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,285 (GRCm39) |
V415A |
probably benign |
Het |
| Rbbp8 |
A |
G |
18: 11,874,133 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
T |
C |
1: 85,635,025 (GRCm39) |
|
probably benign |
Het |
| Spag16 |
A |
G |
1: 69,883,540 (GRCm39) |
|
probably benign |
Het |
| Star |
A |
G |
8: 26,301,082 (GRCm39) |
D138G |
possibly damaging |
Het |
|
| Other mutations in Pbx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02900:Pbx4
|
APN |
8 |
70,319,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03358:Pbx4
|
APN |
8 |
70,311,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0513:Pbx4
|
UTSW |
8 |
70,317,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1980:Pbx4
|
UTSW |
8 |
70,322,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4738:Pbx4
|
UTSW |
8 |
70,317,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5366:Pbx4
|
UTSW |
8 |
70,322,820 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6365:Pbx4
|
UTSW |
8 |
70,324,857 (GRCm39) |
splice site |
probably null |
|
|
R6372:Pbx4
|
UTSW |
8 |
70,324,694 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7037:Pbx4
|
UTSW |
8 |
70,317,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7585:Pbx4
|
UTSW |
8 |
70,285,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7760:Pbx4
|
UTSW |
8 |
70,285,445 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8237:Pbx4
|
UTSW |
8 |
70,317,093 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9025:Pbx4
|
UTSW |
8 |
70,317,097 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9027:Pbx4
|
UTSW |
8 |
70,316,999 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1177:Pbx4
|
UTSW |
8 |
70,285,318 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation