Incidental Mutation 'IGL01865:Pxk'
| ID |
178478 |
| 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 # |
IGL01865
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
14304656-14371562 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8136923 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 148
(V148A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036682]
[ENSMUST00000112689]
[ENSMUST00000225653]
|
| AlphaFold |
Q8BX57 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036682
AA Change: V148A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035265
Gene: ENSMUSG00000033885
AA Change: V148A
| 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 |
possibly damaging
Transcript: ENSMUST00000112689
AA Change: V148A
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108309
Gene: ENSMUSG00000033885
AA Change: V148A
| 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 |
possibly damaging
Transcript: ENSMUST00000225653
AA Change: V148A
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
T |
C |
7: 127,836,107 (GRCm39) |
H162R |
probably damaging |
Het |
| Adamts10 |
T |
A |
17: 33,772,140 (GRCm39) |
M1096K |
probably damaging |
Het |
| Asap3 |
G |
T |
4: 135,963,715 (GRCm39) |
C325F |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,372,302 (GRCm39) |
E2160G |
probably damaging |
Het |
| Col4a1 |
G |
A |
8: 11,251,790 (GRCm39) |
|
probably benign |
Het |
| Ctdp1 |
C |
T |
18: 80,499,199 (GRCm39) |
G248S |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,386,088 (GRCm39) |
D679E |
probably benign |
Het |
| Efcab2 |
C |
A |
1: 178,303,253 (GRCm39) |
Y91* |
probably null |
Het |
| Eif3d |
G |
T |
15: 77,851,546 (GRCm39) |
T88K |
probably benign |
Het |
| Gapvd1 |
G |
A |
2: 34,585,515 (GRCm39) |
A1049V |
probably null |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm18856 |
T |
A |
13: 14,139,508 (GRCm39) |
|
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm9991 |
A |
G |
1: 90,606,635 (GRCm39) |
|
noncoding transcript |
Het |
| Hapln1 |
T |
C |
13: 89,749,784 (GRCm39) |
Y110H |
probably damaging |
Het |
| Htr1f |
A |
G |
16: 64,746,282 (GRCm39) |
Y337H |
probably damaging |
Het |
| Kirrel1 |
T |
A |
3: 86,993,731 (GRCm39) |
S509C |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 67,131,923 (GRCm39) |
R138* |
probably null |
Het |
| Lypla1 |
A |
C |
1: 4,907,259 (GRCm39) |
I108L |
probably damaging |
Het |
| Mc3r |
A |
G |
2: 172,090,975 (GRCm39) |
N66D |
probably damaging |
Het |
| Melk |
T |
A |
4: 44,344,988 (GRCm39) |
C373S |
probably benign |
Het |
| Myocd |
C |
A |
11: 65,091,723 (GRCm39) |
S73I |
probably benign |
Het |
| Nell2 |
A |
G |
15: 95,282,962 (GRCm39) |
V360A |
possibly damaging |
Het |
| Npas4 |
G |
A |
19: 5,035,819 (GRCm39) |
Q782* |
probably null |
Het |
| Or7a36 |
A |
T |
10: 78,820,512 (GRCm39) |
D296V |
possibly damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,288,077 (GRCm39) |
K1108E |
possibly damaging |
Het |
| Per2 |
A |
G |
1: 91,349,239 (GRCm39) |
I1044T |
probably benign |
Het |
| Pgm3 |
A |
G |
9: 86,437,371 (GRCm39) |
F501S |
possibly damaging |
Het |
| Ppp1r3c |
A |
G |
19: 36,711,578 (GRCm39) |
V64A |
probably benign |
Het |
| Ptpn6 |
A |
T |
6: 124,709,428 (GRCm39) |
I15N |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,325,157 (GRCm39) |
|
probably benign |
Het |
| Rtkn2 |
T |
G |
10: 67,871,705 (GRCm39) |
S364R |
probably benign |
Het |
| Rtn1 |
A |
C |
12: 72,266,074 (GRCm39) |
L167R |
probably damaging |
Het |
| Sp2 |
G |
A |
11: 96,851,868 (GRCm39) |
T352I |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,492,113 (GRCm39) |
M459T |
possibly damaging |
Het |
| Tbcd |
T |
A |
11: 121,481,206 (GRCm39) |
M694K |
possibly damaging |
Het |
| Tln2 |
G |
A |
9: 67,157,896 (GRCm39) |
R1148* |
probably null |
Het |
| Trim27 |
T |
C |
13: 21,376,662 (GRCm39) |
V294A |
probably damaging |
Het |
| Tspyl5 |
G |
T |
15: 33,687,858 (GRCm39) |
A29E |
unknown |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vrk2 |
C |
T |
11: 26,485,560 (GRCm39) |
V143I |
possibly damaging |
Het |
| Zfp952 |
G |
A |
17: 33,221,791 (GRCm39) |
R52Q |
probably benign |
Het |
| Zfp979 |
A |
T |
4: 147,699,774 (GRCm39) |
D55E |
probably benign |
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 |
|
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 |
2014-05-07 |
Incidental Mutation