Incidental Mutation 'R6075:Pxk'
| ID |
482715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pxk
|
| Ensembl Gene |
ENSMUSG00000033885 |
| Gene Name |
PX domain containing serine/threonine kinase |
| Synonyms |
MONaKA, D14Ertd813e, C230080L11Rik |
| MMRRC Submission |
044236-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R6075 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
14304656-14371562 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8150964 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 423
(K423R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036682]
[ENSMUST00000112689]
[ENSMUST00000225653]
|
| AlphaFold |
Q8BX57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036682
AA Change: K423R
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000035265
Gene: ENSMUSG00000033885
AA Change: K423R
| 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
AA Change: K423R
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000108309
Gene: ENSMUSG00000033885
AA Change: K423R
| 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
AA Change: K423R
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Areg |
A |
T |
5: 91,291,456 (GRCm39) |
K133M |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,091,689 (GRCm39) |
D1076E |
possibly damaging |
Het |
| Barhl1 |
T |
C |
2: 28,805,231 (GRCm39) |
Y154C |
probably damaging |
Het |
| BC048507 |
A |
G |
13: 68,011,823 (GRCm39) |
T67A |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,307,491 (GRCm39) |
I1746F |
probably damaging |
Het |
| Ccdc34 |
T |
C |
2: 109,874,580 (GRCm39) |
I313T |
possibly damaging |
Het |
| Cma1 |
T |
A |
14: 56,179,771 (GRCm39) |
I138F |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,542,008 (GRCm39) |
S23P |
unknown |
Het |
| Csmd2 |
C |
A |
4: 128,380,658 (GRCm39) |
S2071R |
probably benign |
Het |
| Cyp2j11 |
T |
G |
4: 96,233,322 (GRCm39) |
N125H |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,262,368 (GRCm39) |
R2879G |
possibly damaging |
Het |
| Dnah11 |
A |
T |
12: 118,068,586 (GRCm39) |
C1591S |
probably damaging |
Het |
| Dock9 |
C |
T |
14: 121,783,385 (GRCm39) |
R2038H |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxo21 |
G |
A |
5: 118,126,948 (GRCm39) |
R233H |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,805,656 (GRCm39) |
Y316C |
probably damaging |
Het |
| Gm6526 |
A |
G |
14: 43,986,331 (GRCm39) |
I86V |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,042,384 (GRCm39) |
V5E |
probably benign |
Het |
| Hat1 |
A |
T |
2: 71,240,585 (GRCm39) |
D93V |
probably benign |
Het |
| Kctd21 |
T |
A |
7: 96,996,614 (GRCm39) |
L29Q |
probably damaging |
Het |
| Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
| Lsamp |
A |
G |
16: 41,954,788 (GRCm39) |
K229E |
probably benign |
Het |
| Mcm5 |
A |
G |
8: 75,840,825 (GRCm39) |
D210G |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,689,581 (GRCm39) |
V930A |
possibly damaging |
Het |
| Megf6 |
T |
A |
4: 154,347,056 (GRCm39) |
C652* |
probably null |
Het |
| Nae1 |
A |
T |
8: 105,251,001 (GRCm39) |
L196H |
possibly damaging |
Het |
| Ncor1 |
G |
T |
11: 62,208,675 (GRCm39) |
D156E |
probably damaging |
Het |
| Nop14 |
A |
T |
5: 34,817,235 (GRCm39) |
V52E |
probably damaging |
Het |
| Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
| Parp14 |
A |
T |
16: 35,677,389 (GRCm39) |
C860S |
probably damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,692,866 (GRCm39) |
Y161C |
probably damaging |
Het |
| Ptpn9 |
T |
A |
9: 56,968,430 (GRCm39) |
M590K |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,361,621 (GRCm39) |
I2130T |
probably damaging |
Het |
| Pudp |
C |
A |
18: 50,701,299 (GRCm39) |
G145W |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,786,863 (GRCm39) |
S1584P |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,207,845 (GRCm39) |
R518H |
probably damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,447,092 (GRCm39) |
L200P |
probably damaging |
Het |
| Sntg1 |
T |
A |
1: 8,749,338 (GRCm39) |
*72Y |
probably null |
Het |
| Speer4f1 |
A |
C |
5: 17,684,482 (GRCm39) |
Q170P |
possibly damaging |
Het |
| Taar7d |
A |
C |
10: 23,903,558 (GRCm39) |
I147L |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,177,196 (GRCm39) |
K1284E |
possibly damaging |
Het |
| Trpm2 |
A |
C |
10: 77,770,877 (GRCm39) |
|
probably null |
Het |
| Washc2 |
T |
A |
6: 116,204,327 (GRCm39) |
S412T |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,340,628 (GRCm39) |
V82A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGTCTGAAAGTGCTGGCAAG -3'
(R):5'- GGACCTGTGAGATGCTGTTC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation