Incidental Mutation 'R2908:Pbx3'
ID |
261097 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pbx3
|
Ensembl Gene |
ENSMUSG00000038718 |
Gene Name |
pre B cell leukemia homeobox 3 |
Synonyms |
|
MMRRC Submission |
040495-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2908 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
34061469-34262375 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 34062933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 422
(T422K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040638]
[ENSMUST00000113132]
[ENSMUST00000143776]
[ENSMUST00000153278]
|
AlphaFold |
O35317 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040638
AA Change: T422K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000045281 Gene: ENSMUSG00000038718 AA Change: T422K
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: 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: ENSMUST00000176213
|
SMART Domains |
Protein: ENSMUSP00000135702 Gene: ENSMUSG00000038718
Domain | Start | End | E-Value | Type |
Pfam:PBC
|
2 |
145 |
3.2e-76 |
PFAM |
HOX
|
146 |
211 |
1.74e-17 |
SMART |
low complexity region
|
219 |
247 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
A |
G |
10: 77,149,237 (GRCm39) |
|
probably null |
Het |
Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
Atp1a4 |
A |
G |
1: 172,062,044 (GRCm39) |
Y694H |
probably benign |
Het |
Bhlha9 |
T |
C |
11: 76,563,433 (GRCm39) |
V20A |
probably benign |
Het |
Ccl28 |
C |
A |
13: 120,112,398 (GRCm39) |
|
probably null |
Het |
Cdk14 |
T |
C |
5: 5,299,051 (GRCm39) |
I55V |
probably benign |
Het |
Cit |
C |
A |
5: 116,119,735 (GRCm39) |
D1246E |
probably benign |
Het |
Clp1 |
A |
G |
2: 84,554,488 (GRCm39) |
V227A |
possibly damaging |
Het |
Dhx29 |
T |
C |
13: 113,064,385 (GRCm39) |
V20A |
possibly damaging |
Het |
Lima1 |
C |
T |
15: 99,699,991 (GRCm39) |
|
probably null |
Het |
Lyst |
A |
G |
13: 13,844,458 (GRCm39) |
I1883V |
probably benign |
Het |
Myh1 |
C |
T |
11: 67,111,522 (GRCm39) |
Q1654* |
probably null |
Het |
Or5d46 |
T |
C |
2: 88,170,827 (GRCm39) |
I306T |
probably benign |
Het |
Plekhg4 |
T |
C |
8: 106,107,493 (GRCm39) |
L1008P |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
Slc25a40 |
C |
T |
5: 8,477,505 (GRCm39) |
T30I |
probably damaging |
Het |
Spata31d1c |
A |
T |
13: 65,181,005 (GRCm39) |
I35F |
possibly damaging |
Het |
Tmem18 |
A |
T |
12: 30,637,252 (GRCm39) |
R78* |
probably null |
Het |
Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
Zfp53 |
C |
A |
17: 21,728,736 (GRCm39) |
C256* |
probably null |
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 |
IGL02524:Pbx3
|
APN |
2 |
34,260,830 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTTGGCCTAATTGGATAAAGTGC -3'
(R):5'- CAACGTGGGTTCAGAAAATACATC -3'
Sequencing Primer
(F):5'- AAGTGCTTTCTTTTTAAACGTGTGTC -3'
(R):5'- AATACATCTTGCTAATGCGCC -3'
|
Posted On |
2015-01-23 |