Incidental Mutation 'IGL03171:Pxk'
| ID |
411858 |
| 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: 0.267)
|
| Stock # |
IGL03171
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
14304656-14371562 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 8151014 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036682]
[ENSMUST00000112689]
[ENSMUST00000225653]
|
| AlphaFold |
Q8BX57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036682
|
| SMART Domains |
Protein: ENSMUSP00000035265
Gene: ENSMUSG00000033885
| 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 benign
Transcript: ENSMUST00000112689
|
| SMART Domains |
Protein: ENSMUSP00000108309
Gene: ENSMUSG00000033885
| 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 |
probably benign
Transcript: ENSMUST00000225653
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
T |
A |
6: 83,139,377 (GRCm39) |
F434Y |
possibly damaging |
Het |
| Adam19 |
G |
T |
11: 46,029,681 (GRCm39) |
A709S |
probably damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,401,292 (GRCm39) |
L42Q |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,071,508 (GRCm39) |
N1264S |
possibly damaging |
Het |
| Dnah9 |
T |
G |
11: 65,872,067 (GRCm39) |
K2721T |
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,018,622 (GRCm39) |
A575T |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,594,263 (GRCm39) |
E341G |
probably damaging |
Het |
| Ezh2 |
G |
A |
6: 47,517,715 (GRCm39) |
R574* |
probably null |
Het |
| Fam169a |
G |
T |
13: 97,246,522 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
C |
5: 150,304,274 (GRCm39) |
Y555H |
probably damaging |
Het |
| Gm17175 |
A |
C |
14: 51,809,065 (GRCm39) |
S100R |
probably damaging |
Het |
| Gm527 |
T |
C |
12: 64,967,931 (GRCm39) |
Y118H |
probably damaging |
Het |
| H2-M10.4 |
G |
T |
17: 36,772,142 (GRCm39) |
T202N |
probably damaging |
Het |
| Ift70a1 |
C |
T |
2: 75,810,851 (GRCm39) |
A411T |
probably benign |
Het |
| Igf1 |
A |
T |
10: 87,700,683 (GRCm39) |
T36S |
probably damaging |
Het |
| Ints8 |
C |
T |
4: 11,231,702 (GRCm39) |
V428I |
probably benign |
Het |
| Itga6 |
G |
A |
2: 71,671,673 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
A |
G |
10: 67,061,277 (GRCm39) |
E1210G |
possibly damaging |
Het |
| Kdm2a |
A |
T |
19: 4,406,792 (GRCm39) |
V134E |
probably damaging |
Het |
| Limch1 |
C |
A |
5: 67,191,537 (GRCm39) |
N947K |
possibly damaging |
Het |
| Met |
T |
C |
6: 17,562,272 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,106,376 (GRCm39) |
|
probably benign |
Het |
| Ogg1 |
A |
G |
6: 113,310,375 (GRCm39) |
I274V |
possibly damaging |
Het |
| Ola1 |
A |
T |
2: 72,987,197 (GRCm39) |
I145K |
probably benign |
Het |
| Or2r11 |
G |
A |
6: 42,437,464 (GRCm39) |
T163I |
possibly damaging |
Het |
| Pacrg |
A |
G |
17: 10,795,462 (GRCm39) |
V166A |
possibly damaging |
Het |
| Pira2 |
T |
A |
7: 3,845,604 (GRCm39) |
E260V |
probably damaging |
Het |
| Prickle3 |
T |
C |
X: 7,531,526 (GRCm39) |
C277R |
probably damaging |
Het |
| Psen1 |
A |
G |
12: 83,761,638 (GRCm39) |
T147A |
probably damaging |
Het |
| Scn11a |
G |
A |
9: 119,648,913 (GRCm39) |
P50L |
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,236,418 (GRCm39) |
V281L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,166 (GRCm39) |
I551T |
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,150,539 (GRCm39) |
I281N |
probably benign |
Het |
| Spata31e4 |
T |
A |
13: 50,856,388 (GRCm39) |
S675R |
probably benign |
Het |
| Spopfm1 |
C |
A |
3: 94,173,762 (GRCm39) |
H257N |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,874,336 (GRCm39) |
K209E |
probably benign |
Het |
| Trip6 |
C |
T |
5: 137,311,146 (GRCm39) |
R190Q |
probably benign |
Het |
| Ubqln1 |
T |
A |
13: 58,328,672 (GRCm39) |
E426D |
probably damaging |
Het |
| Zfp607b |
C |
A |
7: 27,393,020 (GRCm39) |
N49K |
possibly damaging |
Het |
|
| Other mutations in Pxk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Pxk
|
APN |
14 |
8,130,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01865:Pxk
|
APN |
14 |
8,136,923 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
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 |
2016-08-02 |
Incidental Mutation