Incidental Mutation 'R7045:Akt1'
ID |
547268 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akt1
|
Ensembl Gene |
ENSMUSG00000001729 |
Gene Name |
thymoma viral proto-oncogene 1 |
Synonyms |
Akt, PKB/Akt, PKBalpha, PKB |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.944)
|
Stock # |
R7045 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
112620260-112641266 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 112628735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 18
(Y18*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123689
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001780]
[ENSMUST00000128300]
[ENSMUST00000130342]
[ENSMUST00000144550]
|
AlphaFold |
P31750 |
Predicted Effect |
probably null
Transcript: ENSMUST00000001780
AA Change: Y18*
|
SMART Domains |
Protein: ENSMUSP00000001780 Gene: ENSMUSG00000001729 AA Change: Y18*
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 |
probably null
Transcript: ENSMUST00000128300
AA Change: Y18*
|
SMART Domains |
Protein: ENSMUSP00000122222 Gene: ENSMUSG00000001729 AA Change: Y18*
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 null
Transcript: ENSMUST00000130342
AA Change: Y18*
|
SMART Domains |
Protein: ENSMUSP00000118190 Gene: ENSMUSG00000001729 AA Change: Y18*
Domain | Start | End | E-Value | Type |
PH
|
6 |
110 |
2.41e-16 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000144550
AA Change: Y18*
|
SMART Domains |
Protein: ENSMUSP00000123689 Gene: ENSMUSG00000001729 AA Change: Y18*
Domain | Start | End | E-Value | Type |
PH
|
6 |
110 |
2.41e-16 |
SMART |
Pfam:Pkinase
|
150 |
202 |
2.6e-6 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank2 |
C |
A |
3: 126,806,393 (GRCm39) |
A583S |
probably damaging |
Het |
Aoc1l3 |
T |
C |
6: 48,965,546 (GRCm39) |
V518A |
possibly damaging |
Het |
Atp8b4 |
T |
C |
2: 126,214,115 (GRCm39) |
N706S |
probably benign |
Het |
Bace2 |
A |
G |
16: 97,200,865 (GRCm39) |
N111S |
probably damaging |
Het |
Cnp |
A |
T |
11: 100,471,184 (GRCm39) |
R275S |
probably benign |
Het |
Cs |
T |
A |
10: 128,188,586 (GRCm39) |
M104K |
probably benign |
Het |
Ctcfl |
G |
A |
2: 172,954,167 (GRCm39) |
T310I |
probably damaging |
Het |
Cyp2d40 |
T |
C |
15: 82,645,763 (GRCm39) |
I81V |
probably benign |
Het |
Ddx19a |
A |
G |
8: 111,719,706 (GRCm39) |
V30A |
probably benign |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dock6 |
G |
A |
9: 21,733,107 (GRCm39) |
A1062V |
probably damaging |
Het |
Dpysl2 |
T |
C |
14: 67,067,395 (GRCm39) |
D172G |
probably benign |
Het |
Eml2 |
A |
G |
7: 18,935,504 (GRCm39) |
D638G |
probably damaging |
Het |
Epb41l4b |
C |
A |
4: 57,103,522 (GRCm39) |
A105S |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 38,942,750 (GRCm39) |
I548V |
probably benign |
Het |
Gabrb2 |
G |
A |
11: 42,484,758 (GRCm39) |
A272T |
probably damaging |
Het |
Gask1a |
T |
C |
9: 121,794,707 (GRCm39) |
L287P |
probably damaging |
Het |
Hcn1 |
C |
T |
13: 118,111,998 (GRCm39) |
P654L |
unknown |
Het |
Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
Hk1 |
C |
A |
10: 62,122,349 (GRCm39) |
G477C |
probably damaging |
Het |
Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
Kiss1r |
A |
G |
10: 79,755,259 (GRCm39) |
|
probably null |
Het |
L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
Loxl4 |
G |
T |
19: 42,595,074 (GRCm39) |
N200K |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,192,398 (GRCm39) |
V104A |
probably benign |
Het |
Lyst |
T |
A |
13: 13,812,293 (GRCm39) |
C902S |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,809,485 (GRCm39) |
V385D |
probably benign |
Het |
Mrpl28 |
T |
C |
17: 26,345,261 (GRCm39) |
F227S |
probably benign |
Het |
Mtmr3 |
A |
T |
11: 4,448,896 (GRCm39) |
V289E |
possibly damaging |
Het |
Ndst3 |
A |
G |
3: 123,465,732 (GRCm39) |
V80A |
probably damaging |
Het |
Nid2 |
C |
T |
14: 19,829,749 (GRCm39) |
A680V |
possibly damaging |
Het |
Nudcd1 |
T |
C |
15: 44,269,226 (GRCm39) |
N145D |
probably benign |
Het |
Nup210 |
A |
T |
6: 91,031,433 (GRCm39) |
I812N |
probably damaging |
Het |
Or2ak6 |
A |
T |
11: 58,592,495 (GRCm39) |
|
probably benign |
Het |
Or2g7 |
C |
T |
17: 38,378,862 (GRCm39) |
H267Y |
probably benign |
Het |
Or2y17 |
A |
T |
11: 49,231,757 (GRCm39) |
T133S |
probably damaging |
Het |
Or52n4b |
A |
G |
7: 108,144,452 (GRCm39) |
K238R |
probably damaging |
Het |
Or5b114-ps1 |
C |
A |
19: 13,352,336 (GRCm39) |
N3K |
probably damaging |
Het |
Or8c11 |
T |
A |
9: 38,289,729 (GRCm39) |
M184K |
probably damaging |
Het |
Or8k16 |
A |
G |
2: 85,520,255 (GRCm39) |
S161G |
possibly damaging |
Het |
Pcdhb6 |
A |
C |
18: 37,469,329 (GRCm39) |
Q750P |
possibly damaging |
Het |
Plppr4 |
T |
C |
3: 117,153,683 (GRCm39) |
Y72C |
probably damaging |
Het |
Rasgrf2 |
G |
T |
13: 92,159,100 (GRCm39) |
|
probably benign |
Het |
Sbk2 |
A |
G |
7: 4,961,905 (GRCm39) |
I127T |
probably damaging |
Het |
Smchd1 |
A |
C |
17: 71,722,039 (GRCm39) |
S817A |
probably benign |
Het |
Speer4b |
A |
T |
5: 27,705,123 (GRCm39) |
N83K |
probably damaging |
Het |
Strc |
A |
T |
2: 121,201,207 (GRCm39) |
L1296Q |
probably damaging |
Het |
Thap11 |
C |
A |
8: 106,582,215 (GRCm39) |
R75S |
possibly damaging |
Het |
Unc13a |
A |
C |
8: 72,111,407 (GRCm39) |
L268R |
possibly damaging |
Het |
Zfp39 |
A |
T |
11: 58,781,269 (GRCm39) |
C498S |
unknown |
Het |
Zfp507 |
T |
C |
7: 35,494,978 (GRCm39) |
T22A |
possibly damaging |
Het |
Zfp85 |
T |
C |
13: 67,897,712 (GRCm39) |
Y120C |
probably benign |
Het |
Zfp882 |
G |
A |
8: 72,667,093 (GRCm39) |
|
probably null |
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 |
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'- ACCCTAGGACTAACAGGAGG -3'
(R):5'- CTAGATGATGCTCCCAGCTG -3'
Sequencing Primer
(F):5'- CTAGGACTAACAGGAGGCTCTC -3'
(R):5'- ATGCTCCCAGCTGCAGGC -3'
|
Posted On |
2019-05-13 |