Incidental Mutation 'IGL02524:Pbx3'
| ID |
297005 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pbx3
|
| Ensembl Gene |
ENSMUSG00000038718 |
| Gene Name |
pre B cell leukemia homeobox 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02524
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
34061469-34262375 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 34260830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040638]
[ENSMUST00000113132]
[ENSMUST00000127353]
[ENSMUST00000138021]
[ENSMUST00000141653]
[ENSMUST00000143776]
[ENSMUST00000153278]
|
| AlphaFold |
O35317 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040638
|
| SMART Domains |
Protein: ENSMUSP00000045281
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
43 |
234 |
2.7e-97 |
PFAM |
|
HOX
|
235 |
300 |
1.74e-17 |
SMART |
|
low complexity region
|
308 |
341 |
N/A |
INTRINSIC |
|
Blast:HOX
|
342 |
385 |
1e-21 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113132
|
| SMART Domains |
Protein: ENSMUSP00000108757
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
38 |
234 |
8.5e-103 |
PFAM |
|
HOX
|
235 |
300 |
8.8e-20 |
SMART |
|
low complexity region
|
308 |
336 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127353
|
| SMART Domains |
Protein: ENSMUSP00000114695
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
54 |
2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138021
|
| SMART Domains |
Protein: ENSMUSP00000135226
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
3 |
128 |
3.7e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141653
|
| SMART Domains |
Protein: ENSMUSP00000115710
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
96 |
6.7e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143776
|
| SMART Domains |
Protein: ENSMUSP00000119914
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
38 |
93 |
4.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153278
|
| SMART Domains |
Protein: ENSMUSP00000123567
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
38 |
93 |
4.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175855
|
| SMART Domains |
Protein: ENSMUSP00000135838
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
53 |
1.6e-27 |
PFAM |
|
HOX
|
54 |
119 |
8.8e-20 |
SMART |
|
low complexity region
|
127 |
155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155423
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display neonatal lethality with hypoventilation and respiratory failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,338,319 (GRCm39) |
|
probably benign |
Het |
| Asap3 |
A |
T |
4: 135,965,927 (GRCm39) |
T453S |
probably damaging |
Het |
| Ccdc110 |
C |
T |
8: 46,394,979 (GRCm39) |
P290L |
probably benign |
Het |
| Ccdc127 |
A |
G |
13: 74,501,016 (GRCm39) |
N11S |
probably damaging |
Het |
| Cd80 |
T |
C |
16: 38,303,045 (GRCm39) |
V164A |
probably benign |
Het |
| Ctnna3 |
T |
C |
10: 64,096,605 (GRCm39) |
I381T |
possibly damaging |
Het |
| Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
| Etnppl |
A |
G |
3: 130,424,320 (GRCm39) |
|
probably benign |
Het |
| Far2 |
T |
A |
6: 148,052,156 (GRCm39) |
L145Q |
probably damaging |
Het |
| Fdxr |
A |
G |
11: 115,162,086 (GRCm39) |
|
probably null |
Het |
| Jmy |
A |
G |
13: 93,609,268 (GRCm39) |
V347A |
probably damaging |
Het |
| Kcns2 |
A |
G |
15: 34,838,981 (GRCm39) |
I115V |
probably benign |
Het |
| Kif2a |
A |
G |
13: 107,100,863 (GRCm39) |
L627S |
possibly damaging |
Het |
| Krtap26-1 |
A |
G |
16: 88,444,367 (GRCm39) |
S85P |
possibly damaging |
Het |
| Ldlr |
C |
A |
9: 21,644,977 (GRCm39) |
D168E |
probably damaging |
Het |
| Lrrc8e |
T |
G |
8: 4,285,392 (GRCm39) |
L539R |
probably damaging |
Het |
| Mmp8 |
A |
G |
9: 7,560,506 (GRCm39) |
E61G |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,985,785 (GRCm39) |
F121L |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,140,066 (GRCm39) |
K638E |
possibly damaging |
Het |
| Ndufaf6 |
A |
G |
4: 11,059,091 (GRCm39) |
F246S |
probably benign |
Het |
| Nynrin |
C |
T |
14: 56,108,931 (GRCm39) |
A1346V |
possibly damaging |
Het |
| Or8k53 |
A |
C |
2: 86,177,686 (GRCm39) |
C141W |
probably damaging |
Het |
| P2rx1 |
C |
T |
11: 72,900,474 (GRCm39) |
P196L |
probably damaging |
Het |
| Psen2 |
A |
T |
1: 180,073,232 (GRCm39) |
S30T |
probably benign |
Het |
| Rack1 |
T |
C |
11: 48,694,298 (GRCm39) |
V166A |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,358,511 (GRCm39) |
T206A |
probably benign |
Het |
| Rrp7a |
A |
G |
15: 83,002,379 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
C |
T |
6: 141,616,798 (GRCm39) |
T377I |
probably benign |
Het |
| Spmip11 |
G |
A |
15: 98,469,006 (GRCm39) |
|
probably null |
Het |
| Sult2a6 |
A |
T |
7: 13,970,611 (GRCm39) |
S162T |
possibly damaging |
Het |
| Syt2 |
A |
G |
1: 134,669,703 (GRCm39) |
K115E |
probably benign |
Het |
| Tet1 |
A |
G |
10: 62,714,425 (GRCm39) |
S457P |
probably damaging |
Het |
| Trbv3 |
A |
G |
6: 41,025,599 (GRCm39) |
E63G |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,961,145 (GRCm39) |
Y404C |
probably damaging |
Het |
| Usp32 |
G |
A |
11: 84,900,837 (GRCm39) |
R1128* |
probably null |
Het |
| Vps4a |
G |
A |
8: 107,763,383 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,980,921 (GRCm39) |
H505Q |
probably damaging |
Het |
| Ywhab |
T |
A |
2: 163,858,057 (GRCm39) |
L208Q |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,641,022 (GRCm39) |
K1241E |
probably benign |
Het |
|
| Other mutations in Pbx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02468:Pbx3
|
APN |
2 |
34,114,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4812001:Pbx3
|
UTSW |
2 |
34,114,631 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0302:Pbx3
|
UTSW |
2 |
34,114,572 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1526:Pbx3
|
UTSW |
2 |
34,261,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1529:Pbx3
|
UTSW |
2 |
34,094,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:Pbx3
|
UTSW |
2 |
34,065,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1652:Pbx3
|
UTSW |
2 |
34,114,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Pbx3
|
UTSW |
2 |
34,114,464 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1850:Pbx3
|
UTSW |
2 |
34,066,832 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2908:Pbx3
|
UTSW |
2 |
34,062,933 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4073:Pbx3
|
UTSW |
2 |
34,114,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5212:Pbx3
|
UTSW |
2 |
34,178,793 (GRCm39) |
intron |
probably benign |
|
|
R5897:Pbx3
|
UTSW |
2 |
34,261,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7376:Pbx3
|
UTSW |
2 |
34,094,889 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7504:Pbx3
|
UTSW |
2 |
34,065,936 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7812:Pbx3
|
UTSW |
2 |
34,114,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8079:Pbx3
|
UTSW |
2 |
34,068,240 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9104:Pbx3
|
UTSW |
2 |
34,114,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9114:Pbx3
|
UTSW |
2 |
34,103,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Pbx3
|
UTSW |
2 |
34,260,938 (GRCm39) |
unclassified |
probably benign |
|
|
R9336:Pbx3
|
UTSW |
2 |
34,261,832 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9420:Pbx3
|
UTSW |
2 |
34,103,348 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9445:Pbx3
|
UTSW |
2 |
34,114,555 (GRCm39) |
critical splice donor site |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation