Incidental Mutation 'R1208:Pdpk1'
ID |
164839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdpk1
|
Ensembl Gene |
ENSMUSG00000024122 |
Gene Name |
3-phosphoinositide dependent protein kinase 1 |
Synonyms |
Pkb kinase, Pdk1 |
MMRRC Submission |
039277-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1208 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
24292654-24369898 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
C to A
at 24312583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111070
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052462]
[ENSMUST00000102927]
[ENSMUST00000115407]
[ENSMUST00000115409]
[ENSMUST00000115411]
|
AlphaFold |
Q9Z2A0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000052462
|
SMART Domains |
Protein: ENSMUSP00000061942 Gene: ENSMUSG00000024122
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
S_TKc
|
58 |
318 |
4.07e-97 |
SMART |
low complexity region
|
364 |
380 |
N/A |
INTRINSIC |
Pfam:PH_3
|
422 |
524 |
1.6e-47 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000102927
|
SMART Domains |
Protein: ENSMUSP00000099991 Gene: ENSMUSG00000024122
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
low complexity region
|
35 |
44 |
N/A |
INTRINSIC |
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
S_TKc
|
85 |
345 |
4.07e-97 |
SMART |
low complexity region
|
391 |
407 |
N/A |
INTRINSIC |
Pfam:PH_3
|
449 |
551 |
1.3e-46 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115407
|
SMART Domains |
Protein: ENSMUSP00000111066 Gene: ENSMUSG00000024122
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
low complexity region
|
35 |
44 |
N/A |
INTRINSIC |
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
S_TKc
|
85 |
345 |
4.07e-97 |
SMART |
low complexity region
|
391 |
407 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115409
|
SMART Domains |
Protein: ENSMUSP00000111068 Gene: ENSMUSG00000024122
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
low complexity region
|
35 |
44 |
N/A |
INTRINSIC |
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
110 |
217 |
3.6e-18 |
PFAM |
low complexity region
|
264 |
280 |
N/A |
INTRINSIC |
Pfam:PH_3
|
322 |
424 |
2.3e-48 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115411
|
SMART Domains |
Protein: ENSMUSP00000111070 Gene: ENSMUSG00000024122
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
low complexity region
|
35 |
44 |
N/A |
INTRINSIC |
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
S_TKc
|
85 |
345 |
4.07e-97 |
SMART |
low complexity region
|
391 |
407 |
N/A |
INTRINSIC |
Pfam:PH_3
|
449 |
522 |
4.9e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140906
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147199
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutant mice exhibit embryogenesis defects, impaired forebrain development, and die by mid gestation. Cardiac muscle-specific conditional mutants exhibit thin ventricular walls and die of heart failure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
C |
A |
7: 29,260,708 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl2fm3 |
C |
T |
3: 59,772,715 (GRCm39) |
P73L |
probably benign |
Het |
Asb14 |
T |
C |
14: 26,622,375 (GRCm39) |
|
probably benign |
Het |
Atp13a3 |
A |
T |
16: 30,173,065 (GRCm39) |
C271S |
probably benign |
Het |
Ccl25 |
T |
A |
8: 4,407,631 (GRCm39) |
S199T |
possibly damaging |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cep104 |
A |
T |
4: 154,069,836 (GRCm39) |
D270V |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,327,877 (GRCm39) |
Y2084N |
probably damaging |
Het |
Eftud2 |
A |
G |
11: 102,755,592 (GRCm39) |
V214A |
probably benign |
Het |
Epb41l4b |
C |
T |
4: 57,077,252 (GRCm39) |
|
probably null |
Het |
Gys2 |
A |
G |
6: 142,396,193 (GRCm39) |
|
probably null |
Het |
Lig4 |
T |
C |
8: 10,021,062 (GRCm39) |
E906G |
probably damaging |
Het |
Mast3 |
G |
A |
8: 71,240,916 (GRCm39) |
|
probably null |
Het |
Mta2 |
G |
A |
19: 8,928,381 (GRCm39) |
R560H |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,134,631 (GRCm39) |
L478P |
probably damaging |
Het |
Neb |
A |
T |
2: 52,193,912 (GRCm39) |
L673* |
probably null |
Het |
Niban3 |
A |
T |
8: 72,053,119 (GRCm39) |
T125S |
probably damaging |
Het |
Or4c35 |
G |
A |
2: 89,808,836 (GRCm39) |
C238Y |
probably damaging |
Het |
Pphln1 |
T |
C |
15: 93,357,610 (GRCm39) |
W162R |
probably damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,811,339 (GRCm39) |
V183A |
probably damaging |
Het |
Recql5 |
T |
C |
11: 115,783,982 (GRCm39) |
K951E |
probably damaging |
Het |
Rev1 |
T |
C |
1: 38,098,199 (GRCm39) |
|
probably benign |
Het |
Slc25a25 |
T |
C |
2: 32,307,437 (GRCm39) |
E309G |
probably benign |
Het |
Slc25a36 |
T |
C |
9: 96,967,188 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 177,998,421 (GRCm39) |
I1033N |
possibly damaging |
Het |
Tbpl2 |
A |
T |
2: 23,984,783 (GRCm39) |
N120K |
probably benign |
Het |
Unc5b |
A |
T |
10: 60,602,771 (GRCm39) |
L876Q |
probably damaging |
Het |
Usp9y |
T |
C |
Y: 1,356,282 (GRCm39) |
T1140A |
probably benign |
Homo |
Vmn1r40 |
A |
G |
6: 89,691,326 (GRCm39) |
I48V |
probably benign |
Het |
Zbbx |
T |
C |
3: 74,945,299 (GRCm39) |
I708V |
possibly damaging |
Het |
Zfp318 |
AGAAGA |
AGAAGAGGAAGA |
17: 46,723,446 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pdpk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00767:Pdpk1
|
APN |
17 |
24,325,835 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01467:Pdpk1
|
APN |
17 |
24,307,144 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02251:Pdpk1
|
APN |
17 |
24,298,612 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03411:Pdpk1
|
APN |
17 |
24,320,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R0152:Pdpk1
|
UTSW |
17 |
24,325,920 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0610:Pdpk1
|
UTSW |
17 |
24,317,145 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1208:Pdpk1
|
UTSW |
17 |
24,312,583 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1817:Pdpk1
|
UTSW |
17 |
24,329,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R1819:Pdpk1
|
UTSW |
17 |
24,329,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Pdpk1
|
UTSW |
17 |
24,317,150 (GRCm39) |
splice site |
probably benign |
|
R1823:Pdpk1
|
UTSW |
17 |
24,317,150 (GRCm39) |
splice site |
probably benign |
|
R3783:Pdpk1
|
UTSW |
17 |
24,329,824 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4653:Pdpk1
|
UTSW |
17 |
24,325,871 (GRCm39) |
missense |
probably benign |
0.25 |
R5000:Pdpk1
|
UTSW |
17 |
24,330,019 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5385:Pdpk1
|
UTSW |
17 |
24,317,114 (GRCm39) |
nonsense |
probably null |
|
R5425:Pdpk1
|
UTSW |
17 |
24,317,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R5429:Pdpk1
|
UTSW |
17 |
24,310,534 (GRCm39) |
missense |
probably benign |
0.01 |
R5642:Pdpk1
|
UTSW |
17 |
24,325,829 (GRCm39) |
nonsense |
probably null |
|
R5936:Pdpk1
|
UTSW |
17 |
24,312,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R6049:Pdpk1
|
UTSW |
17 |
24,317,109 (GRCm39) |
nonsense |
probably null |
|
R6332:Pdpk1
|
UTSW |
17 |
24,325,896 (GRCm39) |
missense |
probably damaging |
0.99 |
R6693:Pdpk1
|
UTSW |
17 |
24,330,100 (GRCm39) |
splice site |
probably null |
|
R7423:Pdpk1
|
UTSW |
17 |
24,329,874 (GRCm39) |
missense |
probably benign |
0.08 |
R7432:Pdpk1
|
UTSW |
17 |
24,320,643 (GRCm39) |
missense |
probably benign |
0.43 |
R8279:Pdpk1
|
UTSW |
17 |
24,307,147 (GRCm39) |
missense |
probably benign |
|
R8698:Pdpk1
|
UTSW |
17 |
24,298,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R8827:Pdpk1
|
UTSW |
17 |
24,307,191 (GRCm39) |
missense |
probably benign |
0.02 |
R9255:Pdpk1
|
UTSW |
17 |
24,325,938 (GRCm39) |
missense |
possibly damaging |
0.83 |
RF016:Pdpk1
|
UTSW |
17 |
24,312,255 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Pdpk1
|
UTSW |
17 |
24,306,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTCTGCCCCAACTGGGTACAAC -3'
(R):5'- TGCGGTGACAAAGCTGTCTCTTC -3'
Sequencing Primer
(F):5'- AACTGGGTACAACCAGTAGC -3'
(R):5'- CACATGGGAAAGTTGTTACCCTG -3'
|
Posted On |
2014-03-28 |