Incidental Mutation 'IGL03411:Pdpk1'
| ID |
421806 |
| 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 # |
IGL03411
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24292654-24369898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24320618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 193
(V193E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052462]
[ENSMUST00000102927]
[ENSMUST00000115407]
[ENSMUST00000115409]
[ENSMUST00000115411]
|
| AlphaFold |
Q9Z2A0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052462
AA Change: V166E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061942
Gene: ENSMUSG00000024122
AA Change: V166E
| 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 damaging
Transcript: ENSMUST00000102927
AA Change: V193E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099991
Gene: ENSMUSG00000024122
AA Change: V193E
| 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 damaging
Transcript: ENSMUST00000115407
AA Change: V193E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111066
Gene: ENSMUSG00000024122
AA Change: V193E
| 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 benign
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 damaging
Transcript: ENSMUST00000115411
AA Change: V193E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111070
Gene: ENSMUSG00000024122
AA Change: V193E
| 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: ENSMUST00000150578
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,218,310 (GRCm39) |
I305T |
probably damaging |
Het |
| Adamts18 |
G |
A |
8: 114,490,929 (GRCm39) |
Q513* |
probably null |
Het |
| Adamts6 |
A |
G |
13: 104,450,842 (GRCm39) |
I342V |
possibly damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,582 (GRCm39) |
T216A |
possibly damaging |
Het |
| Coro1b |
A |
G |
19: 4,200,225 (GRCm39) |
|
probably benign |
Het |
| Cyp4a10 |
G |
A |
4: 115,382,890 (GRCm39) |
|
probably null |
Het |
| Cyp4x1 |
T |
A |
4: 114,965,982 (GRCm39) |
Q448L |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,430,916 (GRCm39) |
|
probably null |
Het |
| Exoc1 |
C |
A |
5: 76,690,042 (GRCm39) |
A194D |
probably damaging |
Het |
| Fastkd1 |
A |
C |
2: 69,537,703 (GRCm39) |
V293G |
probably damaging |
Het |
| Gm5773 |
T |
C |
3: 93,681,264 (GRCm39) |
L312P |
probably damaging |
Het |
| Hhla1 |
A |
G |
15: 65,802,078 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
T |
2: 31,236,649 (GRCm39) |
E397D |
possibly damaging |
Het |
| Lig1 |
C |
T |
7: 13,030,694 (GRCm39) |
R449C |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,164,018 (GRCm39) |
T1189A |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,575,436 (GRCm39) |
M1397I |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,980,330 (GRCm39) |
E1484G |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,182,890 (GRCm39) |
I1019V |
probably benign |
Het |
| Nid1 |
T |
C |
13: 13,612,474 (GRCm39) |
L63P |
probably damaging |
Het |
| Ogfod3 |
A |
T |
11: 121,068,630 (GRCm39) |
*316R |
probably null |
Het |
| Or6z7 |
T |
C |
7: 6,483,435 (GRCm39) |
K240R |
probably benign |
Het |
| Phf3 |
G |
T |
1: 30,843,482 (GRCm39) |
P1826T |
probably damaging |
Het |
| Pnliprp2 |
A |
G |
19: 58,748,847 (GRCm39) |
I51V |
probably benign |
Het |
| Prpf4b |
C |
T |
13: 35,079,342 (GRCm39) |
L739F |
probably damaging |
Het |
| Rcbtb1 |
T |
A |
14: 59,447,419 (GRCm39) |
M1K |
probably null |
Het |
| Rin2 |
A |
G |
2: 145,702,864 (GRCm39) |
E520G |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Shpk |
A |
G |
11: 73,105,861 (GRCm39) |
T238A |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 128,061,347 (GRCm39) |
Y418* |
probably null |
Het |
| Tpte |
T |
C |
8: 22,815,553 (GRCm39) |
V212A |
possibly damaging |
Het |
| Trim55 |
A |
T |
3: 19,713,354 (GRCm39) |
Y135F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,598,456 (GRCm39) |
A19486T |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,708,340 (GRCm39) |
N22K |
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,368 (GRCm39) |
D390G |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,806,634 (GRCm39) |
E527G |
possibly damaging |
Het |
| Vps13d |
C |
T |
4: 144,875,894 (GRCm39) |
E1538K |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,462 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,803,116 (GRCm39) |
S563G |
probably damaging |
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 |
|
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 |
2016-08-02 |
Incidental Mutation