Incidental Mutation 'R1367:Pxk'
| ID |
156089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pxk
|
| Ensembl Gene |
ENSMUSG00000033885 |
| Gene Name |
PX domain containing serine/threonine kinase |
| Synonyms |
MONaKA, D14Ertd813e, C230080L11Rik |
| MMRRC Submission |
039432-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.277)
|
| Stock # |
R1367 (G1)
|
| Quality Score |
190 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
14304656-14371562 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 8150915 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 null
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 null
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 null
Transcript: ENSMUST00000225653
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.2%
- 20x: 86.6%
|
| Validation Efficiency |
98% (48/49) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
C |
16: 14,261,250 (GRCm39) |
V676A |
probably damaging |
Het |
| Acvr1b |
T |
C |
15: 101,091,819 (GRCm39) |
L33P |
possibly damaging |
Het |
| Adamts12 |
T |
G |
15: 11,256,980 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,601,819 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 14,990,225 (GRCm39) |
D233E |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,899,084 (GRCm39) |
*209W |
probably null |
Het |
| Cebpz |
A |
G |
17: 79,230,742 (GRCm39) |
V825A |
probably benign |
Het |
| Cep170 |
A |
G |
1: 176,563,290 (GRCm39) |
F1575L |
probably damaging |
Het |
| Exoc2 |
A |
T |
13: 31,066,256 (GRCm39) |
Y473* |
probably null |
Het |
| F3 |
A |
G |
3: 121,523,023 (GRCm39) |
T78A |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Gga2 |
G |
A |
7: 121,598,138 (GRCm39) |
R319* |
probably null |
Het |
| Gid8 |
A |
G |
2: 180,355,025 (GRCm39) |
I10M |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,311 (GRCm39) |
W139R |
probably damaging |
Het |
| H2-M1 |
A |
G |
17: 36,982,059 (GRCm39) |
S181P |
probably benign |
Het |
| Hectd3 |
G |
T |
4: 116,854,367 (GRCm39) |
V310L |
probably null |
Het |
| Insyn1 |
G |
T |
9: 58,406,263 (GRCm39) |
D58Y |
probably damaging |
Het |
| Kif17 |
C |
A |
4: 138,005,305 (GRCm39) |
S290* |
probably null |
Het |
| Kif26b |
A |
G |
1: 178,744,028 (GRCm39) |
N1375D |
probably damaging |
Het |
| Lgr4 |
C |
G |
2: 109,821,480 (GRCm39) |
P121A |
probably damaging |
Het |
| Ly75 |
A |
G |
2: 60,124,102 (GRCm39) |
|
probably null |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Nek3 |
T |
C |
8: 22,650,377 (GRCm39) |
|
probably benign |
Het |
| Nin |
A |
T |
12: 70,090,703 (GRCm39) |
L904Q |
probably damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,782,018 (GRCm39) |
D405G |
probably benign |
Het |
| Nuak1 |
C |
T |
10: 84,228,192 (GRCm39) |
|
probably benign |
Het |
| Or5h23 |
T |
A |
16: 58,906,706 (GRCm39) |
I47F |
probably benign |
Het |
| Plcg2 |
T |
A |
8: 118,341,977 (GRCm39) |
W1113R |
probably damaging |
Het |
| Pms2 |
G |
A |
5: 143,862,731 (GRCm39) |
V613M |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,820,119 (GRCm39) |
|
probably benign |
Het |
| Slc41a1 |
A |
G |
1: 131,771,746 (GRCm39) |
T387A |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,254,322 (GRCm39) |
V228A |
probably benign |
Het |
| Slpi |
A |
G |
2: 164,196,787 (GRCm39) |
|
probably benign |
Het |
| Tkfc |
A |
G |
19: 10,570,838 (GRCm39) |
S481P |
probably benign |
Het |
| Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
| Tns3 |
T |
C |
11: 8,398,704 (GRCm39) |
H1216R |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,571,973 (GRCm39) |
S20T |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,366,606 (GRCm39) |
D921E |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,371,774 (GRCm39) |
S967T |
probably damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zdhhc23 |
A |
G |
16: 43,794,513 (GRCm39) |
S54P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATAAGAAGGAAGGGCCTCCCTG -3'
(R):5'- TGTGGGTGAACGTCCAAAGTCAATC -3'
Sequencing Primer
(F):5'- tgtagtatttgacttttaccaatgcc -3'
(R):5'- CAATCACTGTGAATGGGTCACTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation