Incidental Mutation 'IGL00227:Pbk'
| ID |
2141 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pbk
|
| Ensembl Gene |
ENSMUSG00000022033 |
| Gene Name |
PDZ binding kinase |
| Synonyms |
D14Ertd732e, 2810434B10Rik, TOPK |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.692)
|
| Stock # |
IGL00227
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
66043337-66055271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66051340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 126
(I126T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022612]
[ENSMUST00000139644]
|
| AlphaFold |
Q9JJ78 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022612
AA Change: I126T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022612
Gene: ENSMUSG00000022033
AA Change: I126T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
32 |
317 |
1.7e-40 |
PFAM |
|
Pfam:Pkinase_Tyr
|
32 |
317 |
2.4e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139644
|
| SMART Domains |
Protein: ENSMUSP00000114484
Gene: ENSMUSG00000022033
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
32 |
119 |
3.5e-5 |
PFAM |
|
Pfam:Pkinase
|
32 |
120 |
7.2e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152130
|
| 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 serine/threonine protein kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. The encoded protein may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. Overexpression of this gene has been implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased UV-induced loss of the horny layer, epidermis thickening, skin fibrosis, and deposition of extracellular matrix in the skin. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(14) : Gene trapped(14) |
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
C |
A |
17: 84,995,957 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,654,946 (GRCm39) |
E2695G |
probably damaging |
Het |
| B3galnt2 |
A |
G |
13: 14,162,016 (GRCm39) |
N246D |
probably benign |
Het |
| Ces1h |
A |
T |
8: 94,079,098 (GRCm39) |
M495K |
unknown |
Het |
| Chga |
A |
G |
12: 102,529,058 (GRCm39) |
E345G |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,875,129 (GRCm39) |
F43L |
probably benign |
Het |
| Ctu1 |
C |
A |
7: 43,324,928 (GRCm39) |
F122L |
possibly damaging |
Het |
| Cwf19l2 |
C |
A |
9: 3,409,990 (GRCm39) |
Q40K |
probably benign |
Het |
| Dlg2 |
T |
C |
7: 91,614,853 (GRCm39) |
I264T |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,008,853 (GRCm39) |
V1974M |
probably damaging |
Het |
| Foxf2 |
C |
A |
13: 31,810,172 (GRCm39) |
P37Q |
unknown |
Het |
| Gtf2e2 |
T |
C |
8: 34,266,473 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
C |
A |
4: 116,857,785 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
T |
C |
4: 116,857,786 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
T |
C |
4: 116,857,784 (GRCm39) |
|
probably benign |
Het |
| Ift122 |
A |
T |
6: 115,894,018 (GRCm39) |
H901L |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,664,846 (GRCm39) |
|
probably null |
Het |
| Krt84 |
C |
A |
15: 101,436,208 (GRCm39) |
M460I |
probably benign |
Het |
| Moxd1 |
C |
T |
10: 24,158,491 (GRCm39) |
H382Y |
probably damaging |
Het |
| Npy6r |
A |
T |
18: 44,409,511 (GRCm39) |
T311S |
probably damaging |
Het |
| Or1p1 |
C |
T |
11: 74,179,952 (GRCm39) |
T160I |
probably damaging |
Het |
| Or52n3 |
C |
T |
7: 104,530,724 (GRCm39) |
T270I |
probably benign |
Het |
| Pde1b |
C |
T |
15: 103,435,107 (GRCm39) |
S400F |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,326,965 (GRCm39) |
C300S |
probably damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,573,808 (GRCm39) |
R419W |
probably damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,016,053 (GRCm39) |
L33P |
probably damaging |
Het |
| Ralb |
T |
A |
1: 119,403,770 (GRCm39) |
D119V |
probably benign |
Het |
| Relb |
A |
C |
7: 19,356,849 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
A |
1: 22,507,323 (GRCm39) |
D609V |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,315,342 (GRCm39) |
T377A |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,291,374 (GRCm39) |
T367A |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,263,623 (GRCm39) |
L807P |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,060,818 (GRCm39) |
E2051* |
probably null |
Het |
| St6galnac1 |
T |
C |
11: 116,658,532 (GRCm39) |
I311V |
probably damaging |
Het |
|
| Other mutations in Pbk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00858:Pbk
|
APN |
14 |
66,049,373 (GRCm39) |
splice site |
probably benign |
|
|
IGL01472:Pbk
|
APN |
14 |
66,054,159 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03239:Pbk
|
APN |
14 |
66,054,667 (GRCm39) |
missense |
probably benign |
0.22 |
|
A5278:Pbk
|
UTSW |
14 |
66,051,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Pbk
|
UTSW |
14 |
66,052,675 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0645:Pbk
|
UTSW |
14 |
66,051,245 (GRCm39) |
splice site |
probably benign |
|
|
R4696:Pbk
|
UTSW |
14 |
66,049,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4834:Pbk
|
UTSW |
14 |
66,052,733 (GRCm39) |
nonsense |
probably null |
|
|
R4856:Pbk
|
UTSW |
14 |
66,052,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Pbk
|
UTSW |
14 |
66,052,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6006:Pbk
|
UTSW |
14 |
66,054,094 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6086:Pbk
|
UTSW |
14 |
66,052,702 (GRCm39) |
nonsense |
probably null |
|
|
R7272:Pbk
|
UTSW |
14 |
66,052,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:Pbk
|
UTSW |
14 |
66,046,650 (GRCm39) |
splice site |
probably null |
|
|
R8296:Pbk
|
UTSW |
14 |
66,054,185 (GRCm39) |
nonsense |
probably null |
|
|
R8333:Pbk
|
UTSW |
14 |
66,054,680 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9061:Pbk
|
UTSW |
14 |
66,049,439 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9290:Pbk
|
UTSW |
14 |
66,054,713 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Pbk
|
UTSW |
14 |
66,051,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2011-12-09 |
Incidental Mutation