Incidental Mutation 'IGL00470:Pxk'
| ID |
13235 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pxk
|
| Ensembl Gene |
ENSMUSG00000033885 |
| Gene Name |
PX domain containing serine/threonine kinase |
| Synonyms |
MONaKA, D14Ertd813e, C230080L11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.277)
|
| Stock # |
IGL00470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
14304656-14371562 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8130754 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 118
(F118L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036682]
[ENSMUST00000112689]
[ENSMUST00000225653]
|
| AlphaFold |
Q8BX57 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036682
AA Change: F118L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000035265
Gene: ENSMUSG00000033885
AA Change: F118L
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
17 |
122 |
1.62e-16 |
SMART |
|
Pfam:Pkinase
|
183 |
441 |
1.1e-9 |
PFAM |
|
Pfam:Pkinase_Tyr
|
185 |
309 |
2.5e-7 |
PFAM |
|
low complexity region
|
483 |
536 |
N/A |
INTRINSIC |
|
Pfam:WH2
|
549 |
577 |
1.8e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112689
AA Change: F118L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108309
Gene: ENSMUSG00000033885
AA Change: F118L
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
17 |
122 |
1.62e-16 |
SMART |
|
Pfam:Pkinase_Tyr
|
185 |
309 |
3e-7 |
PFAM |
|
Pfam:Pkinase
|
185 |
441 |
1.4e-10 |
PFAM |
|
low complexity region
|
483 |
509 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225616
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225653
AA Change: F118L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| 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 phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732463B04Rik |
G |
T |
12: 84,090,578 (GRCm39) |
|
probably benign |
Het |
| Abcd1 |
T |
C |
X: 72,761,154 (GRCm39) |
L173P |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,118,149 (GRCm39) |
D41V |
probably damaging |
Het |
| Armh4 |
A |
T |
14: 50,010,460 (GRCm39) |
S416T |
probably damaging |
Het |
| Aspa |
T |
G |
11: 73,204,447 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,654 (GRCm39) |
|
probably benign |
Het |
| Cracd |
G |
A |
5: 77,013,903 (GRCm39) |
|
probably benign |
Het |
| Cubn |
T |
A |
2: 13,283,229 (GRCm39) |
I3570L |
probably benign |
Het |
| Cyp2j13 |
G |
A |
4: 95,950,275 (GRCm39) |
P242L |
probably damaging |
Het |
| Cysrt1 |
T |
C |
2: 25,129,513 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,414 (GRCm39) |
L2100H |
probably damaging |
Het |
| Ddb1 |
G |
A |
19: 10,589,028 (GRCm39) |
A229T |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,228,043 (GRCm39) |
I1554F |
probably damaging |
Het |
| Dvl3 |
C |
T |
16: 20,349,689 (GRCm39) |
P554L |
probably damaging |
Het |
| Fcgbp |
C |
A |
7: 27,774,511 (GRCm39) |
C28* |
probably null |
Het |
| Gm773 |
T |
C |
X: 55,247,373 (GRCm39) |
D53G |
probably benign |
Het |
| Hhat |
A |
G |
1: 192,399,325 (GRCm39) |
Y272H |
probably damaging |
Het |
| Inpp5k |
T |
C |
11: 75,536,351 (GRCm39) |
S310P |
probably benign |
Het |
| Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,944,570 (GRCm39) |
D893G |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,119,738 (GRCm39) |
T709A |
probably benign |
Het |
| Mcm8 |
G |
A |
2: 132,669,457 (GRCm39) |
V281I |
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Nup133 |
T |
G |
8: 124,665,822 (GRCm39) |
D201A |
probably damaging |
Het |
| Oxct2a |
A |
G |
4: 123,217,183 (GRCm39) |
L66P |
possibly damaging |
Het |
| Pcbp2 |
C |
T |
15: 102,399,148 (GRCm39) |
A224V |
probably damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,284,837 (GRCm39) |
H655L |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,015,719 (GRCm39) |
S275F |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,255,631 (GRCm39) |
M706T |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,338,656 (GRCm39) |
M689T |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,754,848 (GRCm39) |
V2008A |
probably damaging |
Het |
| Txndc2 |
A |
T |
17: 65,945,569 (GRCm39) |
S203T |
probably benign |
Het |
| Txnrd1 |
T |
G |
10: 82,711,496 (GRCm39) |
D42E |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,773,249 (GRCm39) |
D1746N |
probably damaging |
Het |
|
| Other mutations in Pxk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01865:Pxk
|
APN |
14 |
8,136,923 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL03171:Pxk
|
APN |
14 |
8,151,014 (GRCm38) |
splice site |
probably benign |
|
|
PIT4131001:Pxk
|
UTSW |
14 |
8,152,130 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0799:Pxk
|
UTSW |
14 |
8,148,123 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1367:Pxk
|
UTSW |
14 |
8,150,915 (GRCm38) |
splice site |
probably null |
|
|
R1546:Pxk
|
UTSW |
14 |
8,164,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1800:Pxk
|
UTSW |
14 |
8,151,507 (GRCm38) |
nonsense |
probably null |
|
|
R1827:Pxk
|
UTSW |
14 |
8,151,507 (GRCm38) |
nonsense |
probably null |
|
|
R1828:Pxk
|
UTSW |
14 |
8,151,507 (GRCm38) |
nonsense |
probably null |
|
|
R1888:Pxk
|
UTSW |
14 |
8,151,540 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1888:Pxk
|
UTSW |
14 |
8,151,540 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1892:Pxk
|
UTSW |
14 |
8,151,507 (GRCm38) |
nonsense |
probably null |
|
|
R1893:Pxk
|
UTSW |
14 |
8,151,507 (GRCm38) |
nonsense |
probably null |
|
|
R3766:Pxk
|
UTSW |
14 |
8,136,863 (GRCm38) |
splice site |
probably benign |
|
|
R4807:Pxk
|
UTSW |
14 |
8,144,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4816:Pxk
|
UTSW |
14 |
8,136,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4833:Pxk
|
UTSW |
14 |
8,130,653 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4974:Pxk
|
UTSW |
14 |
8,140,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5400:Pxk
|
UTSW |
14 |
8,136,911 (GRCm38) |
missense |
probably benign |
0.45 |
|
R6075:Pxk
|
UTSW |
14 |
8,150,964 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6144:Pxk
|
UTSW |
14 |
8,138,011 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6211:Pxk
|
UTSW |
14 |
8,163,952 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6997:Pxk
|
UTSW |
14 |
8,122,371 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7266:Pxk
|
UTSW |
14 |
8,146,220 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7363:Pxk
|
UTSW |
14 |
8,152,118 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7949:Pxk
|
UTSW |
14 |
8,144,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8302:Pxk
|
UTSW |
14 |
8,164,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8754:Pxk
|
UTSW |
14 |
8,151,496 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9250:Pxk
|
UTSW |
14 |
8,144,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9670:Pxk
|
UTSW |
14 |
8,140,748 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9687:Pxk
|
UTSW |
14 |
8,151,567 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
Z1176:Pxk
|
UTSW |
14 |
8,146,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation