Incidental Mutation 'R9670:Pxk'
| ID |
728013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pxk
|
| Ensembl Gene |
ENSMUSG00000033885 |
| Gene Name |
PX domain containing serine/threonine kinase |
| Synonyms |
MONaKA, D14Ertd813e, C230080L11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R9670 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
14304656-14371562 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 8140748 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035265
(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 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,770,894 (GRCm39) |
T28A |
probably benign |
Het |
| Adam15 |
T |
C |
3: 89,253,270 (GRCm39) |
I220V |
probably benign |
Het |
| Atf7ip2 |
T |
A |
16: 10,058,512 (GRCm39) |
V317E |
probably benign |
Het |
| Bin3 |
T |
G |
14: 70,367,009 (GRCm39) |
|
probably null |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Brd2 |
T |
C |
17: 34,334,205 (GRCm39) |
T286A |
possibly damaging |
Het |
| Cers6 |
A |
G |
2: 68,833,114 (GRCm39) |
Y144C |
probably benign |
Het |
| Cox4i2 |
C |
A |
2: 152,602,610 (GRCm39) |
N101K |
probably damaging |
Het |
| Dguok |
T |
A |
6: 83,463,999 (GRCm39) |
L186F |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,148,926 (GRCm39) |
N1468S |
probably null |
Het |
| Eral1 |
T |
C |
11: 77,965,410 (GRCm39) |
H335R |
|
Het |
| Gm3248 |
A |
T |
14: 5,944,993 (GRCm38) |
I63K |
probably benign |
Het |
| Gm3415 |
A |
C |
5: 146,493,376 (GRCm39) |
I74L |
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,558,240 (GRCm39) |
R1416* |
probably null |
Het |
| Lrit2 |
T |
A |
14: 36,790,115 (GRCm39) |
C28* |
probably null |
Het |
| Mctp1 |
A |
T |
13: 76,532,840 (GRCm39) |
T63S |
probably benign |
Het |
| Ncbp3 |
T |
A |
11: 72,944,323 (GRCm39) |
N108K |
possibly damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,448,651 (GRCm39) |
I285V |
probably benign |
Het |
| Nup85 |
C |
T |
11: 115,457,471 (GRCm39) |
R58W |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,613,792 (GRCm39) |
V579A |
probably benign |
Het |
| Pde10a |
T |
C |
17: 9,020,272 (GRCm39) |
S70P |
unknown |
Het |
| Pfpl |
T |
C |
19: 12,407,107 (GRCm39) |
F453L |
probably damaging |
Het |
| Ppp3cb |
C |
A |
14: 20,578,314 (GRCm39) |
L145F |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,326,618 (GRCm39) |
K357R |
probably benign |
Het |
| Prkcb |
G |
T |
7: 122,233,070 (GRCm39) |
E656* |
probably null |
Het |
| Prrc2b |
C |
A |
2: 32,103,199 (GRCm39) |
H892Q |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,444,558 (GRCm39) |
V51A |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,560,845 (GRCm39) |
R2972L |
probably benign |
Het |
| Sec14l1 |
A |
G |
11: 117,046,058 (GRCm39) |
I542V |
possibly damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sgk1 |
AAGA |
AAGAGA |
10: 21,868,290 (GRCm39) |
|
probably null |
Het |
| Slc26a9 |
C |
A |
1: 131,681,688 (GRCm39) |
A167E |
probably benign |
Het |
| Tarbp1 |
A |
T |
8: 127,183,262 (GRCm39) |
L519Q |
probably null |
Het |
| Trak2 |
G |
A |
1: 58,985,463 (GRCm39) |
R12* |
probably null |
Het |
| Ush2a |
A |
G |
1: 188,360,768 (GRCm39) |
I2163V |
probably benign |
Het |
| Vmn2r114 |
T |
A |
17: 23,531,098 (GRCm39) |
N64Y |
|
Het |
| Wdfy4 |
T |
C |
14: 32,769,219 (GRCm39) |
Y2236C |
|
Het |
| Zfp316 |
A |
T |
5: 143,240,348 (GRCm39) |
V557E |
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 |
|
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 |
|
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'- AGTGGCACATCTGCATAAAAC -3'
(R):5'- TAAAGTTCATGGGGCTTAAGGG -3'
Sequencing Primer
(F):5'- TTGCCTCTCCGGAAAGAGAACATG -3'
(R):5'- GGGGCCTAACTTTTGGAA -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation