Incidental Mutation 'R0947:Pbx1'
| ID |
81646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pbx1
|
| Ensembl Gene |
ENSMUSG00000052534 |
| Gene Name |
pre B cell leukemia homeobox 1 |
| Synonyms |
Pbx1a, Pbx1b, 2310056B04Rik, Pbx-1, D230003C07Rik |
| MMRRC Submission |
039086-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0947 (G1)
|
| Quality Score |
163 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
167946933-168259839 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 168030935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 228
(S228P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064438]
[ENSMUST00000072863]
[ENSMUST00000176540]
[ENSMUST00000176790]
[ENSMUST00000188912]
|
| AlphaFold |
P41778 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064438
AA Change: S228P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066385
Gene: ENSMUSG00000052534
AA Change: S228P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
35 |
232 |
2e-106 |
PFAM |
|
HOX
|
233 |
290 |
5.15e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072863
AA Change: S228P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072640
Gene: ENSMUSG00000052534
AA Change: S228P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
35 |
232 |
2.1e-106 |
PFAM |
|
HOX
|
233 |
298 |
6.17e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176482
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176540
AA Change: S228P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135516
Gene: ENSMUSG00000052534
AA Change: S228P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
|
Pfam:PBC
|
40 |
232 |
6.9e-98 |
PFAM |
|
HOX
|
233 |
298 |
6.17e-18 |
SMART |
|
low complexity region
|
323 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176790
AA Change: S228P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134925
Gene: ENSMUSG00000052534
AA Change: S228P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
35 |
232 |
2.1e-106 |
PFAM |
|
HOX
|
233 |
298 |
6.17e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188912
AA Change: S228P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140606
Gene: ENSMUSG00000052534
AA Change: S228P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
35 |
232 |
2.1e-106 |
PFAM |
|
HOX
|
233 |
298 |
6.17e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.2%
- 10x: 95.4%
- 20x: 89.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a homeobox protein that belongs to the three-amino-acid loop extension/Pre-B cell leukemia transcription factor (TALE/PBX) family of proteins. The encoded protein is involved in several biological processes during embryogenesis including steroidogenesis, sexual development and the maintenance of hematopoietic stem cells. This protein functions in the development of several organ systems and plays a role in skeletal patterning and programming. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous disruption of this gene causes late gestational death, hypoplasia/aplasia of many organs, impaired hematopoiesis, anemia, skin edema, axial and appendicular skeleton defects, absent adrenal glands, abnormal chondrocyte differentiation, and abnormal bone, kidney and pancreas development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
T |
18: 56,693,910 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
G |
9: 53,415,392 (GRCm39) |
V833A |
probably benign |
Het |
| Atp6v1b1 |
A |
T |
6: 83,730,814 (GRCm39) |
I180F |
probably damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,421,286 (GRCm39) |
S188P |
probably benign |
Het |
| Gdpd1 |
T |
G |
11: 86,928,707 (GRCm39) |
E240D |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Htt |
T |
C |
5: 35,056,268 (GRCm39) |
S2681P |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,774,865 (GRCm39) |
D40G |
probably benign |
Het |
| Krt18 |
A |
G |
15: 101,939,163 (GRCm39) |
Y249C |
possibly damaging |
Het |
| Lrp2 |
G |
T |
2: 69,318,182 (GRCm39) |
P2090T |
probably damaging |
Het |
| Lrrc32 |
A |
G |
7: 98,148,090 (GRCm39) |
D290G |
probably benign |
Het |
| Man1a |
A |
T |
10: 53,809,619 (GRCm39) |
Y486* |
probably null |
Het |
| Mcm9 |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
10: 53,413,597 (GRCm39) |
|
probably benign |
Het |
| Nin |
A |
T |
12: 70,107,960 (GRCm39) |
C211S |
probably damaging |
Het |
| Npat |
A |
C |
9: 53,481,624 (GRCm39) |
I1111L |
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,879 (GRCm39) |
I287V |
probably benign |
Het |
| Or9i1b |
T |
A |
19: 13,896,535 (GRCm39) |
H50Q |
probably benign |
Het |
| Pcsk7 |
G |
T |
9: 45,822,470 (GRCm39) |
R230L |
probably damaging |
Het |
| Prom2 |
G |
T |
2: 127,380,183 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Racgap1 |
C |
T |
15: 99,522,195 (GRCm39) |
A458T |
possibly damaging |
Het |
| Rsf1 |
T |
A |
7: 97,318,985 (GRCm39) |
C912S |
probably damaging |
Het |
| Setd2 |
G |
A |
9: 110,377,579 (GRCm39) |
E465K |
possibly damaging |
Het |
| Sgk2 |
T |
A |
2: 162,848,758 (GRCm39) |
D269E |
probably benign |
Het |
| Spsb1 |
T |
C |
4: 149,991,536 (GRCm39) |
T11A |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,203,095 (GRCm39) |
S509T |
probably benign |
Het |
| Trim5 |
A |
T |
7: 103,914,958 (GRCm39) |
D370E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,715,574 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
C |
A |
17: 47,252,038 (GRCm39) |
G1501C |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r93 |
A |
T |
17: 18,524,343 (GRCm39) |
R112S |
probably benign |
Het |
| Vps26b |
T |
C |
9: 26,924,077 (GRCm39) |
Y222C |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,603,315 (GRCm39) |
Y198N |
probably benign |
Het |
| Xrn1 |
A |
T |
9: 95,880,316 (GRCm39) |
K752I |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp386 |
T |
C |
12: 116,023,398 (GRCm39) |
I372T |
probably benign |
Het |
| Zfp804a |
T |
C |
2: 82,089,062 (GRCm39) |
Y964H |
possibly damaging |
Het |
|
| Other mutations in Pbx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01530:Pbx1
|
APN |
1 |
168,018,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02256:Pbx1
|
APN |
1 |
168,011,171 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03040:Pbx1
|
APN |
1 |
168,255,515 (GRCm39) |
splice site |
probably benign |
|
|
root_cause
|
UTSW |
1 |
168,037,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Pbx1
|
UTSW |
1 |
168,031,051 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0240:Pbx1
|
UTSW |
1 |
168,031,051 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1785:Pbx1
|
UTSW |
1 |
168,258,947 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1893:Pbx1
|
UTSW |
1 |
168,030,979 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3552:Pbx1
|
UTSW |
1 |
167,986,362 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4176:Pbx1
|
UTSW |
1 |
168,018,841 (GRCm39) |
splice site |
probably null |
|
|
R4757:Pbx1
|
UTSW |
1 |
168,023,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Pbx1
|
UTSW |
1 |
168,011,158 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6102:Pbx1
|
UTSW |
1 |
168,011,134 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6296:Pbx1
|
UTSW |
1 |
168,011,184 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6302:Pbx1
|
UTSW |
1 |
168,018,910 (GRCm39) |
missense |
probably benign |
|
|
R6488:Pbx1
|
UTSW |
1 |
168,018,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6501:Pbx1
|
UTSW |
1 |
168,037,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Pbx1
|
UTSW |
1 |
168,258,949 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7070:Pbx1
|
UTSW |
1 |
168,023,337 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7677:Pbx1
|
UTSW |
1 |
168,030,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7898:Pbx1
|
UTSW |
1 |
168,012,616 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9374:Pbx1
|
UTSW |
1 |
168,258,910 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9551:Pbx1
|
UTSW |
1 |
168,258,910 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9552:Pbx1
|
UTSW |
1 |
168,258,910 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0024:Pbx1
|
UTSW |
1 |
168,258,934 (GRCm39) |
nonsense |
probably null |
|
|
X0027:Pbx1
|
UTSW |
1 |
168,011,181 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1189:Pbx1
|
UTSW |
1 |
168,012,524 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAACCAACAGGCTATCCTGTCTCC -3'
(R):5'- GCACTTGAAGCCAGTGCCAAAC -3'
Sequencing Primer
(F):5'- GTGTTTCTCGGACCTTAGACC -3'
(R):5'- GCCAAGCCAGATATTTCAGTTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation