Incidental Mutation 'R9184:Akt1'
| ID |
697261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akt1
|
| Ensembl Gene |
ENSMUSG00000001729 |
| Gene Name |
thymoma viral proto-oncogene 1 |
| Synonyms |
Akt, PKB/Akt, PKBalpha, PKB |
| MMRRC Submission |
068979-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.944)
|
| Stock # |
R9184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
112620260-112641266 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112621152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 475
(S475P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001780]
[ENSMUST00000128300]
[ENSMUST00000130342]
[ENSMUST00000144550]
|
| AlphaFold |
P31750 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001780
AA Change: S475P
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000001780
Gene: ENSMUSG00000001729
AA Change: S475P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
6 |
110 |
2.41e-16 |
SMART |
|
S_TKc
|
150 |
408 |
1.56e-107 |
SMART |
|
S_TK_X
|
409 |
476 |
1.44e-19 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128300
AA Change: S432P
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122222
Gene: ENSMUSG00000001729
AA Change: S432P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
6 |
110 |
2.41e-16 |
SMART |
|
Pfam:Pkinase
|
150 |
278 |
1e-31 |
PFAM |
|
Pfam:Pkinase_Tyr
|
150 |
278 |
3.8e-13 |
PFAM |
|
Pfam:Pkinase_Tyr
|
276 |
350 |
8.7e-6 |
PFAM |
|
Pfam:Pkinase
|
277 |
365 |
5e-17 |
PFAM |
|
S_TK_X
|
366 |
433 |
1.44e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130342
|
| SMART Domains |
Protein: ENSMUSP00000118190
Gene: ENSMUSG00000001729
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
6 |
110 |
2.41e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144550
|
| SMART Domains |
Protein: ENSMUSP00000123689
Gene: ENSMUSG00000001729
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
6 |
110 |
2.41e-16 |
SMART |
|
Pfam:Pkinase
|
150 |
202 |
2.6e-6 |
PFAM |
|
| Meta Mutation Damage Score |
0.2192 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
97% (60/62) |
| MGI Phenotype |
FUNCTION: This gene encodes the founding member of the Akt serine-threonine protein kinase gene family that also includes Akt2 and Akt3. This kinase is a major downstream effector of the phosphatidylinositol 3-kinase (PI3K) pathway that mediates the effects of various growth factors such as platelet-derived growth factor (PDGF), epidermal growth factor (EGF), insulin and insulin-like growth factor I (IGF-I). It is activated through recruitment to cellular membranes by PI3K lipid products and by phosphorylation by 3-phosphoinositide dependent kinase-1. It then further phosphorylates different downstream proteins in response to various extracellular signals and thus plays a pivotal role in mediating a variety of cellular processes, such as glucose metabolism, glycogen biosynthesis, protein synthesis and turn over, inflammatory response, cell survival (anti-apoptosis) and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030452D12Rik |
T |
C |
8: 107,233,901 (GRCm39) |
V199A |
unknown |
Het |
| Abca7 |
A |
G |
10: 79,838,690 (GRCm39) |
H621R |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,137,847 (GRCm39) |
N331I |
probably benign |
Het |
| Arc |
A |
G |
15: 74,543,779 (GRCm39) |
V148A |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,291,887 (GRCm39) |
L21P |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,162,214 (GRCm39) |
L692S |
probably damaging |
Het |
| C1qtnf2 |
T |
C |
11: 43,365,180 (GRCm39) |
V25A |
probably benign |
Het |
| Cald1 |
G |
T |
6: 34,730,512 (GRCm39) |
E244D |
unknown |
Het |
| Cdc42bpa |
T |
A |
1: 179,972,301 (GRCm39) |
F1368I |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 145,919,308 (GRCm39) |
C680Y |
probably null |
Het |
| Chd1 |
T |
A |
17: 15,962,551 (GRCm39) |
N769K |
possibly damaging |
Het |
| Clasp1 |
T |
A |
1: 118,470,908 (GRCm39) |
V848E |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Ctsb |
G |
T |
14: 63,375,544 (GRCm39) |
G170V |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,340,552 (GRCm39) |
K2320E |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,036,592 (GRCm39) |
I3415F |
probably damaging |
Het |
| Fibcd1 |
A |
G |
2: 31,706,488 (GRCm39) |
S448P |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,805,542 (GRCm39) |
K71E |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,558,331 (GRCm39) |
V350I |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,368,311 (GRCm39) |
S1032T |
possibly damaging |
Het |
| Glis3 |
T |
C |
19: 28,509,007 (GRCm39) |
T326A |
probably damaging |
Het |
| Hspa9 |
C |
T |
18: 35,082,168 (GRCm39) |
R146H |
possibly damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,715,352 (GRCm39) |
I58T |
probably benign |
Het |
| Kcnk15 |
G |
A |
2: 163,700,606 (GRCm39) |
V282M |
probably benign |
Het |
| Klk1b8 |
A |
G |
7: 43,602,158 (GRCm39) |
N30S |
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,540,911 (GRCm39) |
Y454* |
probably null |
Het |
| Mcam |
T |
C |
9: 44,046,545 (GRCm39) |
|
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,596,182 (GRCm39) |
L1047S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,218,767 (GRCm39) |
I81T |
possibly damaging |
Het |
| Neurod4 |
A |
T |
10: 130,106,958 (GRCm39) |
D105E |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,072,067 (GRCm39) |
L592P |
probably damaging |
Het |
| Nnt |
C |
A |
13: 119,518,270 (GRCm39) |
K302N |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,806,364 (GRCm39) |
F1767S |
probably damaging |
Het |
| Or4c103 |
C |
A |
2: 88,513,519 (GRCm39) |
A186S |
possibly damaging |
Het |
| Or4c58 |
T |
A |
2: 89,675,294 (GRCm39) |
I8F |
probably benign |
Het |
| Or7g16 |
T |
C |
9: 18,727,138 (GRCm39) |
I151V |
probably benign |
Het |
| Pcdhga4 |
A |
T |
18: 37,820,460 (GRCm39) |
I670F |
possibly damaging |
Het |
| Pdp1 |
T |
C |
4: 11,962,143 (GRCm39) |
E75G |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,724,249 (GRCm39) |
N1275K |
probably benign |
Het |
| Pink1 |
G |
T |
4: 138,048,321 (GRCm39) |
Q134K |
probably benign |
Het |
| Poli |
T |
A |
18: 70,642,250 (GRCm39) |
H650L |
probably damaging |
Het |
| Prickle2 |
G |
A |
6: 92,388,505 (GRCm39) |
P355L |
possibly damaging |
Het |
| Prkaca |
G |
A |
8: 84,717,305 (GRCm39) |
G194D |
probably benign |
Het |
| Ptgs2 |
A |
T |
1: 149,980,175 (GRCm39) |
Y371F |
probably damaging |
Het |
| Rarb |
C |
T |
14: 16,818,881 (GRCm38) |
|
probably benign |
Het |
| Rarb |
T |
A |
14: 16,818,882 (GRCm38) |
|
probably benign |
Het |
| Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
T |
G |
13: 33,269,393 (GRCm39) |
V42G |
probably damaging |
Het |
| Sgsm2 |
T |
A |
11: 74,782,834 (GRCm39) |
I41F |
possibly damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,018,880 (GRCm39) |
D653V |
probably damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,506,630 (GRCm39) |
V602M |
possibly damaging |
Het |
| Slu7 |
T |
C |
11: 43,334,224 (GRCm39) |
S417P |
probably damaging |
Het |
| Smad2 |
T |
A |
18: 76,422,171 (GRCm39) |
D194E |
probably benign |
Het |
| Sntg1 |
A |
T |
1: 8,748,056 (GRCm39) |
V112E |
probably damaging |
Het |
| Strip1 |
A |
T |
3: 107,521,979 (GRCm39) |
M733K |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,241,726 (GRCm39) |
S1655L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,599,949 (GRCm39) |
I19075N |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,771,890 (GRCm39) |
T1437I |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,822 (GRCm39) |
I159F |
probably benign |
Het |
| Zfp78 |
T |
C |
7: 6,382,300 (GRCm39) |
V450A |
probably damaging |
Het |
| Zmynd11 |
T |
A |
13: 9,743,475 (GRCm39) |
H314L |
probably benign |
Het |
|
| Other mutations in Akt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00786:Akt1
|
APN |
12 |
112,624,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01779:Akt1
|
APN |
12 |
112,623,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01886:Akt1
|
APN |
12 |
112,625,592 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02506:Akt1
|
APN |
12 |
112,625,714 (GRCm39) |
splice site |
probably benign |
|
|
IGL02851:Akt1
|
APN |
12 |
112,623,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Aachen
|
UTSW |
12 |
112,628,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Goettingen
|
UTSW |
12 |
112,624,863 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Halle
|
UTSW |
12 |
112,625,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Akt1
|
UTSW |
12 |
112,621,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0211:Akt1
|
UTSW |
12 |
112,621,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1891:Akt1
|
UTSW |
12 |
112,626,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Akt1
|
UTSW |
12 |
112,621,585 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2018:Akt1
|
UTSW |
12 |
112,626,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2019:Akt1
|
UTSW |
12 |
112,626,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2023:Akt1
|
UTSW |
12 |
112,626,071 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3873:Akt1
|
UTSW |
12 |
112,622,967 (GRCm39) |
missense |
probably benign |
|
|
R4446:Akt1
|
UTSW |
12 |
112,625,567 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4832:Akt1
|
UTSW |
12 |
112,623,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5457:Akt1
|
UTSW |
12 |
112,623,525 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5595:Akt1
|
UTSW |
12 |
112,625,050 (GRCm39) |
missense |
probably null |
0.99 |
|
R5723:Akt1
|
UTSW |
12 |
112,623,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5736:Akt1
|
UTSW |
12 |
112,623,284 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6058:Akt1
|
UTSW |
12 |
112,628,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6473:Akt1
|
UTSW |
12 |
112,628,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7045:Akt1
|
UTSW |
12 |
112,628,735 (GRCm39) |
nonsense |
probably null |
|
|
R7129:Akt1
|
UTSW |
12 |
112,626,083 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7311:Akt1
|
UTSW |
12 |
112,623,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8475:Akt1
|
UTSW |
12 |
112,624,863 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8778:Akt1
|
UTSW |
12 |
112,625,102 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8804:Akt1
|
UTSW |
12 |
112,625,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9002:Akt1
|
UTSW |
12 |
112,626,048 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9711:Akt1
|
UTSW |
12 |
112,624,885 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATAGTTTTCCTCCTGACCTGG -3'
(R):5'- AGAATCAAACAAACCCTTTGGAGG -3'
Sequencing Primer
(F):5'- CTGACCTGGCTGGGAGGTAG -3'
(R):5'- TAGCAGCTTGGCGGGGAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation