Incidental Mutation 'IGL02251:Pdpk1'
| ID |
286402 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdpk1
|
| Ensembl Gene |
ENSMUSG00000024122 |
| Gene Name |
3-phosphoinositide dependent protein kinase 1 |
| Synonyms |
Pkb kinase, Pdk1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02251
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24292654-24369898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24298612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 346
(F346L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052462]
[ENSMUST00000102927]
[ENSMUST00000115407]
[ENSMUST00000115409]
[ENSMUST00000115411]
|
| AlphaFold |
Q9Z2A0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052462
AA Change: F446L
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000061942
Gene: ENSMUSG00000024122
AA Change: F446L
| 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 benign
Transcript: ENSMUST00000102927
AA Change: F473L
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099991
Gene: ENSMUSG00000024122
AA Change: F473L
| 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 benign
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 damaging
Transcript: ENSMUST00000115409
AA Change: F346L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111068
Gene: ENSMUSG00000024122
AA Change: F346L
| 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 |
possibly damaging
Transcript: ENSMUST00000115411
AA Change: F473L
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111070
Gene: ENSMUSG00000024122
AA Change: F473L
| 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 |
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,626,840 (GRCm39) |
C1406R |
probably damaging |
Het |
| Acp2 |
T |
A |
2: 91,038,678 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Arhgef11 |
C |
T |
3: 87,590,854 (GRCm39) |
R32C |
probably damaging |
Het |
| Armc6 |
A |
T |
8: 70,677,870 (GRCm39) |
L153* |
probably null |
Het |
| Btnl2 |
G |
T |
17: 34,582,213 (GRCm39) |
G260* |
probably null |
Het |
| Ccnf |
A |
G |
17: 24,445,513 (GRCm39) |
S551P |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,882,382 (GRCm39) |
S37P |
probably benign |
Het |
| Cntnap3 |
T |
A |
13: 64,909,850 (GRCm39) |
T752S |
probably damaging |
Het |
| Crispld1 |
A |
G |
1: 17,799,064 (GRCm39) |
M62V |
probably benign |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Dph6 |
A |
G |
2: 114,366,004 (GRCm39) |
|
probably null |
Het |
| Dpp3 |
T |
G |
19: 4,968,343 (GRCm39) |
H243P |
probably benign |
Het |
| Eif3j2 |
T |
A |
18: 43,610,431 (GRCm39) |
K127N |
probably damaging |
Het |
| Esrp1 |
G |
A |
4: 11,361,202 (GRCm39) |
R315C |
probably damaging |
Het |
| Gm973 |
A |
C |
1: 59,621,582 (GRCm39) |
H574P |
probably benign |
Het |
| Gprasp1 |
G |
A |
X: 134,701,288 (GRCm39) |
V494I |
probably benign |
Het |
| Hbb-bh1 |
T |
A |
7: 103,492,017 (GRCm39) |
K66* |
probably null |
Het |
| Hoxb9 |
T |
A |
11: 96,165,651 (GRCm39) |
M240K |
probably damaging |
Het |
| Irf2 |
T |
C |
8: 47,260,788 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
A |
G |
7: 30,766,688 (GRCm39) |
|
probably null |
Het |
| Mylk3 |
C |
T |
8: 86,081,805 (GRCm39) |
V328M |
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,798,873 (GRCm39) |
E38G |
probably null |
Het |
| Or4k40 |
A |
C |
2: 111,250,657 (GRCm39) |
L213R |
probably damaging |
Het |
| Or51l14 |
A |
T |
7: 103,100,978 (GRCm39) |
K145* |
probably null |
Het |
| Prex1 |
T |
C |
2: 166,419,806 (GRCm39) |
Y1120C |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,237 (GRCm39) |
T742A |
probably benign |
Het |
| Scai |
A |
T |
2: 38,989,429 (GRCm39) |
D401E |
probably benign |
Het |
| Scd1 |
T |
C |
19: 44,386,533 (GRCm39) |
H298R |
probably damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,235 (GRCm39) |
R224G |
probably benign |
Het |
| Slc45a1 |
A |
G |
4: 150,723,176 (GRCm39) |
|
probably benign |
Het |
| Smim10l1 |
G |
T |
6: 133,082,471 (GRCm39) |
R6L |
probably damaging |
Het |
| Spag5 |
T |
G |
11: 78,210,860 (GRCm39) |
F921C |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,227,186 (GRCm39) |
S667P |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,524 (GRCm39) |
I278V |
probably benign |
Het |
| Thbs1 |
G |
A |
2: 117,943,999 (GRCm39) |
D206N |
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,058,256 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,014,231 (GRCm39) |
N341S |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,399,732 (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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation