Incidental Mutation 'R2023:Akt1'
| ID |
220173 |
| 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 |
040032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.944)
|
| Stock # |
R2023 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
112620260-112641266 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 112626071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 67
(R67Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001780]
[ENSMUST00000128300]
[ENSMUST00000130342]
[ENSMUST00000144550]
|
| AlphaFold |
P31750 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001780
AA Change: R67Q
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000001780
Gene: ENSMUSG00000001729
AA Change: R67Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000123563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127588
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128300
AA Change: R67Q
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000122222
Gene: ENSMUSG00000001729
AA Change: R67Q
| 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
AA Change: R67Q
PolyPhen 2
Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118190
Gene: ENSMUSG00000001729
AA Change: R67Q
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
6 |
110 |
2.41e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144550
AA Change: R67Q
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000123689
Gene: ENSMUSG00000001729
AA Change: R67Q
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
6 |
110 |
2.41e-16 |
SMART |
|
Pfam:Pkinase
|
150 |
202 |
2.6e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184981
|
| Meta Mutation Damage Score |
0.2354 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,247 (GRCm39) |
S447P |
possibly damaging |
Het |
| 9930111J21Rik2 |
A |
G |
11: 48,911,144 (GRCm39) |
F430L |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,938,233 (GRCm39) |
V297A |
probably damaging |
Het |
| Adam3 |
G |
A |
8: 25,179,479 (GRCm39) |
R613C |
possibly damaging |
Het |
| Ambp |
T |
C |
4: 63,069,702 (GRCm39) |
Y108C |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,090 (GRCm39) |
I3158V |
probably benign |
Het |
| Bank1 |
T |
C |
3: 136,031,679 (GRCm39) |
T8A |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,560 (GRCm39) |
V1211A |
probably benign |
Het |
| Ccdc88a |
G |
T |
11: 29,413,546 (GRCm39) |
E695* |
probably null |
Het |
| Cep68 |
A |
C |
11: 20,189,888 (GRCm39) |
S375A |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,236,375 (GRCm39) |
I417V |
probably benign |
Het |
| Chrna2 |
T |
A |
14: 66,379,677 (GRCm39) |
H5Q |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,536,193 (GRCm39) |
I549K |
probably damaging |
Het |
| Col28a1 |
C |
A |
6: 8,083,783 (GRCm39) |
S558I |
possibly damaging |
Het |
| Cyp4f14 |
A |
G |
17: 33,125,505 (GRCm39) |
I385T |
probably damaging |
Het |
| Dynlt4 |
A |
G |
4: 116,985,504 (GRCm39) |
E109G |
possibly damaging |
Het |
| Erap1 |
T |
A |
13: 74,814,627 (GRCm39) |
V451E |
probably benign |
Het |
| Frem1 |
G |
T |
4: 82,831,795 (GRCm39) |
T1988K |
probably benign |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm5616 |
A |
G |
9: 48,361,928 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5709 |
T |
C |
3: 59,543,142 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hsd11b1 |
T |
C |
1: 192,922,686 (GRCm39) |
T124A |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,321,785 (GRCm39) |
M1054K |
possibly damaging |
Het |
| Kars1 |
T |
C |
8: 112,728,484 (GRCm39) |
N200S |
probably benign |
Het |
| Kdm2a |
C |
A |
19: 4,372,492 (GRCm39) |
R951L |
probably damaging |
Het |
| Ldhd |
T |
A |
8: 112,356,578 (GRCm39) |
H61L |
probably damaging |
Het |
| Macf1 |
G |
T |
4: 123,366,523 (GRCm39) |
A2746E |
probably damaging |
Het |
| Micall2 |
A |
G |
5: 139,703,266 (GRCm39) |
V190A |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,195,883 (GRCm39) |
V627E |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,574,054 (GRCm39) |
T711S |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,806,502 (GRCm39) |
L1813P |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,744,296 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
G |
T |
2: 89,969,200 (GRCm39) |
C94* |
probably null |
Het |
| Or5p63 |
A |
G |
7: 107,811,049 (GRCm39) |
L229P |
probably damaging |
Het |
| Or6c1b |
T |
A |
10: 129,273,451 (GRCm39) |
Y257N |
probably damaging |
Het |
| Osbpl2 |
C |
A |
2: 179,791,969 (GRCm39) |
|
probably null |
Het |
| Pamr1 |
T |
A |
2: 102,464,880 (GRCm39) |
M343K |
probably benign |
Het |
| Pcdh15 |
T |
G |
10: 74,467,025 (GRCm39) |
S1684A |
possibly damaging |
Het |
| Pgr |
T |
A |
9: 8,958,399 (GRCm39) |
V802D |
probably damaging |
Het |
| Pgs1 |
A |
G |
11: 117,893,228 (GRCm39) |
E55G |
probably benign |
Het |
| Pkd2 |
T |
A |
5: 104,614,744 (GRCm39) |
|
probably null |
Het |
| Ppp3r2 |
T |
C |
4: 49,681,723 (GRCm39) |
I76V |
probably benign |
Het |
| Ptprd |
C |
T |
4: 75,875,341 (GRCm39) |
E1240K |
probably damaging |
Het |
| Recql5 |
G |
A |
11: 115,784,466 (GRCm39) |
T878I |
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,669,036 (GRCm39) |
D233G |
possibly damaging |
Het |
| Sectm1a |
A |
G |
11: 120,960,408 (GRCm39) |
|
probably benign |
Het |
| Smo |
A |
G |
6: 29,754,715 (GRCm39) |
N262D |
possibly damaging |
Het |
| Srcin1 |
A |
G |
11: 97,416,872 (GRCm39) |
S931P |
probably benign |
Het |
| Tcof1 |
C |
T |
18: 60,966,605 (GRCm39) |
G329R |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,327,535 (GRCm39) |
H1446Y |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,026 (GRCm39) |
T671A |
probably damaging |
Het |
| Tmem171 |
C |
A |
13: 98,828,733 (GRCm39) |
W139L |
probably damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,810,368 (GRCm39) |
R385* |
probably null |
Het |
| Vps13c |
A |
T |
9: 67,843,567 (GRCm39) |
|
probably benign |
Het |
| Wdr87-ps |
G |
T |
7: 29,230,959 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp287 |
A |
C |
11: 62,605,808 (GRCm39) |
Y366* |
probably null |
Het |
| Zfp456 |
A |
T |
13: 67,514,616 (GRCm39) |
C363* |
probably null |
Het |
| Zfp523 |
A |
G |
17: 28,419,978 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
C |
7: 6,308,416 (GRCm39) |
K361N |
possibly damaging |
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 |
|
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 |
|
R9184:Akt1
|
UTSW |
12 |
112,621,152 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9711:Akt1
|
UTSW |
12 |
112,624,885 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAAGTGCTCCAGTCTAGTTC -3'
(R):5'- GGAACTCACTCTGTAGACCAGG -3'
Sequencing Primer
(F):5'- GTCTAGTTCTCCAGAATGGACTCAG -3'
(R):5'- GTGCTAGGATTAAAGGTGTTCACCAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation