Incidental Mutation 'R5897:Pbx3'
| ID |
457572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pbx3
|
| Ensembl Gene |
ENSMUSG00000038718 |
| Gene Name |
pre B cell leukemia homeobox 3 |
| Synonyms |
|
| MMRRC Submission |
044096-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5897 (G1)
|
| Quality Score |
82 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
34061469-34262375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34261920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 5
(S5T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040638]
[ENSMUST00000113132]
[ENSMUST00000127353]
[ENSMUST00000138021]
[ENSMUST00000141653]
[ENSMUST00000143776]
[ENSMUST00000153278]
|
| AlphaFold |
O35317 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040638
AA Change: S5T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000045281
Gene: ENSMUSG00000038718
AA Change: S5T
| 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
AA Change: S5T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108757
Gene: ENSMUSG00000038718
AA Change: S5T
| 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
AA Change: S5T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119914
Gene: ENSMUSG00000038718
AA Change: S5T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
38 |
93 |
4.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153278
AA Change: S5T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123567
Gene: ENSMUSG00000038718
AA Change: S5T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
38 |
93 |
4.9e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155423
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.7%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,425,032 (GRCm39) |
T489A |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,187,244 (GRCm39) |
T416A |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,780,508 (GRCm39) |
I494V |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,127,904 (GRCm39) |
S3747P |
probably benign |
Het |
| Arhgef18 |
G |
T |
8: 3,489,682 (GRCm39) |
R338L |
probably damaging |
Het |
| Atg16l1 |
G |
T |
1: 87,713,719 (GRCm39) |
|
probably null |
Het |
| BC024139 |
A |
G |
15: 76,010,339 (GRCm39) |
S56P |
possibly damaging |
Het |
| Ccdc121 |
T |
C |
5: 31,643,308 (GRCm39) |
|
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,206,578 (GRCm39) |
I223L |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,798,280 (GRCm39) |
|
probably null |
Het |
| Cep76 |
T |
A |
18: 67,771,398 (GRCm39) |
Q78L |
probably benign |
Het |
| Cyp20a1 |
A |
C |
1: 60,392,220 (GRCm39) |
N92T |
probably damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,975 (GRCm39) |
D281G |
probably benign |
Het |
| Cyp2j12 |
T |
C |
4: 95,990,279 (GRCm39) |
N429S |
probably damaging |
Het |
| Dchs2 |
G |
A |
3: 83,192,717 (GRCm39) |
V1721I |
possibly damaging |
Het |
| Elovl4 |
G |
A |
9: 83,672,157 (GRCm39) |
T54M |
possibly damaging |
Het |
| Fam13b |
A |
G |
18: 34,587,134 (GRCm39) |
V542A |
possibly damaging |
Het |
| Gje1 |
A |
T |
10: 14,592,467 (GRCm39) |
I105N |
probably damaging |
Het |
| Grm4 |
G |
T |
17: 27,654,137 (GRCm39) |
F349L |
probably benign |
Het |
| Hsd17b3 |
A |
G |
13: 64,236,799 (GRCm39) |
|
probably null |
Het |
| Khdrbs1 |
A |
T |
4: 129,614,448 (GRCm39) |
D368E |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,258,792 (GRCm39) |
R32* |
probably null |
Het |
| Lrrc7 |
T |
A |
3: 157,869,990 (GRCm39) |
I644F |
probably damaging |
Het |
| Or2i1 |
A |
T |
17: 37,508,151 (GRCm39) |
L161Q |
probably damaging |
Het |
| Or2t1 |
G |
T |
14: 14,328,120 (GRCm38) |
G3V |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,264 (GRCm39) |
V214E |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,829,176 (GRCm39) |
D1022G |
probably benign |
Het |
| Pla2g4a |
T |
A |
1: 149,740,899 (GRCm39) |
K380I |
probably damaging |
Het |
| Prl3b1 |
A |
G |
13: 27,429,858 (GRCm39) |
T99A |
probably benign |
Het |
| Prr12 |
C |
T |
7: 44,692,808 (GRCm39) |
V1575I |
probably damaging |
Het |
| Ptpn5 |
C |
T |
7: 46,729,262 (GRCm39) |
V451I |
probably benign |
Het |
| Rab1a |
C |
T |
11: 20,168,867 (GRCm39) |
R51* |
probably null |
Het |
| Skint9 |
A |
G |
4: 112,271,113 (GRCm39) |
I99T |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,431,190 (GRCm39) |
V394A |
possibly damaging |
Het |
| Tcf20 |
A |
T |
15: 82,735,984 (GRCm39) |
C1822* |
probably null |
Het |
| Tdrd6 |
T |
A |
17: 43,935,768 (GRCm39) |
D1760V |
probably damaging |
Het |
| Tinag |
C |
A |
9: 76,952,726 (GRCm39) |
C86F |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,249,459 (GRCm39) |
N91K |
probably damaging |
Het |
| Tmub1 |
G |
A |
5: 24,651,925 (GRCm39) |
T13M |
probably benign |
Het |
| Txn2 |
G |
A |
15: 77,808,726 (GRCm39) |
A135V |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,553,935 (GRCm39) |
G3475R |
probably damaging |
Het |
| Usp38 |
T |
C |
8: 81,732,082 (GRCm39) |
D276G |
probably benign |
Het |
| Vax1 |
T |
A |
19: 59,158,233 (GRCm39) |
I77F |
unknown |
Het |
| Vmn2r108 |
C |
T |
17: 20,691,580 (GRCm39) |
M314I |
probably benign |
Het |
| Vmn2r4 |
C |
A |
3: 64,322,687 (GRCm39) |
G11* |
probably null |
Het |
| Zcchc14 |
T |
C |
8: 122,331,899 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
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'- CAAGCTCTGGTCGGTGATGG -3'
(R):5'- GCTGAGGACCAAGTTGTGCG -3'
Sequencing Primer
(F):5'- CTCTGGTCGGTGATGGTCATGATC -3'
(R):5'- CGCCGCTGTCCTCAGTC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation