Incidental Mutation 'R6752:Akt3'
ID |
530811 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akt3
|
Ensembl Gene |
ENSMUSG00000019699 |
Gene Name |
thymoma viral proto-oncogene 3 |
Synonyms |
Nmf350, PKB gamma, D930002M15Rik |
MMRRC Submission |
044869-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.593)
|
Stock # |
R6752 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
176847639-177085769 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 176877756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 337
(Y337*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019843]
[ENSMUST00000111159]
[ENSMUST00000111160]
|
AlphaFold |
Q9WUA6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000019843
AA Change: Y337*
|
SMART Domains |
Protein: ENSMUSP00000019843 Gene: ENSMUSG00000019699 AA Change: Y337*
Domain | Start | End | E-Value | Type |
PH
|
6 |
109 |
4.81e-16 |
SMART |
S_TKc
|
148 |
405 |
3.53e-106 |
SMART |
S_TK_X
|
406 |
467 |
6.37e-12 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111159
AA Change: Y337*
|
SMART Domains |
Protein: ENSMUSP00000106789 Gene: ENSMUSG00000019699 AA Change: Y337*
Domain | Start | End | E-Value | Type |
PH
|
6 |
109 |
4.81e-16 |
SMART |
S_TKc
|
148 |
405 |
3.53e-106 |
SMART |
S_TK_X
|
406 |
475 |
2.61e-17 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111160
AA Change: Y337*
|
SMART Domains |
Protein: ENSMUSP00000106790 Gene: ENSMUSG00000019699 AA Change: Y337*
Domain | Start | End | E-Value | Type |
PH
|
6 |
109 |
4.81e-16 |
SMART |
S_TKc
|
148 |
405 |
3.53e-106 |
SMART |
S_TK_X
|
406 |
475 |
2.61e-17 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193760
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (55/56) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice exhibit a 20% decrease in brain size and have smaller and fewer cells in the brain. Mice heterozygous for an ENU-induced mutation exhibit increased seizures (sporadic and induced) and increased brain weight and size. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
C |
11: 84,086,309 (GRCm39) |
L45S |
probably benign |
Het |
Agbl2 |
G |
A |
2: 90,633,418 (GRCm39) |
C518Y |
probably damaging |
Het |
Aox1 |
T |
C |
1: 58,086,398 (GRCm39) |
I101T |
probably benign |
Het |
Arhgap23 |
T |
C |
11: 97,343,074 (GRCm39) |
F241S |
probably damaging |
Het |
Asmt |
A |
G |
X: 169,110,096 (GRCm39) |
M202V |
probably benign |
Het |
Atp6v0a2 |
A |
G |
5: 124,779,452 (GRCm39) |
E189G |
probably damaging |
Het |
Birc2 |
G |
A |
9: 7,857,345 (GRCm39) |
A376V |
probably benign |
Het |
Ccbe1 |
C |
T |
18: 66,209,378 (GRCm39) |
|
probably null |
Het |
Chst2 |
C |
A |
9: 95,286,802 (GRCm39) |
E515* |
probably null |
Het |
Col12a1 |
A |
T |
9: 79,540,706 (GRCm39) |
N2426K |
possibly damaging |
Het |
Dmrt2 |
A |
G |
19: 25,655,706 (GRCm39) |
N435S |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,421,017 (GRCm39) |
K123E |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,870,616 (GRCm39) |
L1452Q |
probably damaging |
Het |
Galnt7 |
G |
A |
8: 58,105,985 (GRCm39) |
R10C |
probably damaging |
Het |
Gm16506 |
A |
G |
14: 43,964,876 (GRCm39) |
I22T |
unknown |
Het |
H2-Q6 |
A |
G |
17: 35,647,103 (GRCm39) |
T292A |
probably damaging |
Het |
Ifne |
A |
G |
4: 88,798,319 (GRCm39) |
M33T |
probably benign |
Het |
Igf2r |
G |
A |
17: 12,933,831 (GRCm39) |
R808W |
probably damaging |
Het |
Igfbp5 |
T |
C |
1: 72,903,068 (GRCm39) |
E169G |
probably damaging |
Het |
Inppl1 |
G |
A |
7: 101,481,749 (GRCm39) |
R198* |
probably null |
Het |
Irgm1 |
T |
C |
11: 48,757,290 (GRCm39) |
T174A |
probably damaging |
Het |
Itih3 |
C |
T |
14: 30,645,446 (GRCm39) |
G21S |
possibly damaging |
Het |
Klra4 |
G |
T |
6: 130,038,991 (GRCm39) |
Q134K |
probably benign |
Het |
Mfsd1 |
T |
A |
3: 67,503,936 (GRCm39) |
Y309* |
probably null |
Het |
Mrps10 |
A |
G |
17: 47,688,740 (GRCm39) |
N162S |
probably damaging |
Het |
Mtmr14 |
T |
C |
6: 113,217,358 (GRCm39) |
F90S |
probably damaging |
Het |
Myh15 |
A |
G |
16: 49,003,290 (GRCm39) |
D1783G |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,119,856 (GRCm39) |
E972G |
probably damaging |
Het |
Myt1 |
G |
T |
2: 181,442,875 (GRCm39) |
V455F |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,944,640 (GRCm39) |
S575T |
probably benign |
Het |
Nbea |
T |
A |
3: 55,875,730 (GRCm39) |
T1647S |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,570,037 (GRCm39) |
N466S |
probably benign |
Het |
Or10ag52 |
A |
G |
2: 87,043,388 (GRCm39) |
M51V |
probably benign |
Het |
Or5b114-ps1 |
T |
A |
19: 13,352,890 (GRCm39) |
L188H |
unknown |
Het |
Or5h27 |
T |
A |
16: 59,006,694 (GRCm39) |
N51Y |
probably damaging |
Het |
Pcdhgb4 |
T |
A |
18: 37,853,704 (GRCm39) |
I33N |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Pom121l2 |
T |
G |
13: 22,165,939 (GRCm39) |
F70C |
probably damaging |
Het |
Psmb5 |
T |
C |
14: 54,854,212 (GRCm39) |
T89A |
probably benign |
Het |
Rab11fip2 |
T |
C |
19: 59,895,475 (GRCm39) |
D471G |
probably damaging |
Het |
Rnh1 |
A |
G |
7: 140,743,354 (GRCm39) |
V207A |
probably benign |
Het |
Sh3tc2 |
C |
A |
18: 62,094,108 (GRCm39) |
T49N |
probably benign |
Het |
Skint4 |
T |
C |
4: 111,977,060 (GRCm39) |
M158T |
possibly damaging |
Het |
Skint7 |
T |
A |
4: 111,837,463 (GRCm39) |
H80Q |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,762,539 (GRCm39) |
|
probably benign |
Het |
Sostdc1 |
T |
C |
12: 36,364,411 (GRCm39) |
V40A |
probably benign |
Het |
Sptlc1 |
C |
A |
13: 53,489,394 (GRCm39) |
K437N |
possibly damaging |
Het |
Stat2 |
T |
C |
10: 128,119,622 (GRCm39) |
F503L |
probably damaging |
Het |
Syt16 |
A |
T |
12: 74,275,987 (GRCm39) |
|
probably null |
Het |
Tspyl1 |
T |
C |
10: 34,158,583 (GRCm39) |
S103P |
probably benign |
Het |
Ube4a |
A |
T |
9: 44,837,246 (GRCm39) |
S1053R |
probably damaging |
Het |
Vipr1 |
A |
G |
9: 121,482,959 (GRCm39) |
N58S |
probably damaging |
Het |
Zfp184 |
C |
A |
13: 22,143,578 (GRCm39) |
A428E |
probably damaging |
Het |
Zfp292 |
A |
C |
4: 34,808,593 (GRCm39) |
F1484V |
possibly damaging |
Het |
Zfp599 |
G |
A |
9: 22,160,840 (GRCm39) |
H442Y |
probably damaging |
Het |
Zfp944 |
G |
A |
17: 22,558,500 (GRCm39) |
T249I |
probably benign |
Het |
Zkscan14 |
T |
A |
5: 145,132,316 (GRCm39) |
H405L |
probably damaging |
Het |
|
Other mutations in Akt3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01020:Akt3
|
APN |
1 |
176,958,533 (GRCm39) |
splice site |
probably benign |
|
IGL02348:Akt3
|
APN |
1 |
176,886,952 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02394:Akt3
|
APN |
1 |
176,886,985 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03005:Akt3
|
APN |
1 |
176,894,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R0114:Akt3
|
UTSW |
1 |
176,894,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R1403:Akt3
|
UTSW |
1 |
176,958,676 (GRCm39) |
splice site |
probably benign |
|
R1452:Akt3
|
UTSW |
1 |
176,958,633 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1495:Akt3
|
UTSW |
1 |
176,930,608 (GRCm39) |
missense |
probably benign |
|
R1961:Akt3
|
UTSW |
1 |
176,924,561 (GRCm39) |
missense |
probably damaging |
0.97 |
R2062:Akt3
|
UTSW |
1 |
176,930,551 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2064:Akt3
|
UTSW |
1 |
176,930,551 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2066:Akt3
|
UTSW |
1 |
176,930,551 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2068:Akt3
|
UTSW |
1 |
176,930,551 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4155:Akt3
|
UTSW |
1 |
176,924,543 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4937:Akt3
|
UTSW |
1 |
176,877,693 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5097:Akt3
|
UTSW |
1 |
177,076,254 (GRCm39) |
missense |
probably benign |
0.01 |
R5414:Akt3
|
UTSW |
1 |
176,877,817 (GRCm39) |
missense |
probably damaging |
0.98 |
R6336:Akt3
|
UTSW |
1 |
176,859,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R6723:Akt3
|
UTSW |
1 |
176,877,756 (GRCm39) |
nonsense |
probably null |
|
R6753:Akt3
|
UTSW |
1 |
176,877,756 (GRCm39) |
nonsense |
probably null |
|
R6755:Akt3
|
UTSW |
1 |
176,877,756 (GRCm39) |
nonsense |
probably null |
|
R6765:Akt3
|
UTSW |
1 |
176,877,756 (GRCm39) |
nonsense |
probably null |
|
R6766:Akt3
|
UTSW |
1 |
176,877,756 (GRCm39) |
nonsense |
probably null |
|
R6767:Akt3
|
UTSW |
1 |
176,877,756 (GRCm39) |
nonsense |
probably null |
|
R6782:Akt3
|
UTSW |
1 |
176,877,756 (GRCm39) |
nonsense |
probably null |
|
R6787:Akt3
|
UTSW |
1 |
176,877,756 (GRCm39) |
nonsense |
probably null |
|
R6847:Akt3
|
UTSW |
1 |
176,859,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R7525:Akt3
|
UTSW |
1 |
176,847,673 (GRCm39) |
nonsense |
probably null |
|
R7535:Akt3
|
UTSW |
1 |
176,924,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R8000:Akt3
|
UTSW |
1 |
176,877,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R8326:Akt3
|
UTSW |
1 |
176,877,611 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8947:Akt3
|
UTSW |
1 |
176,958,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R9047:Akt3
|
UTSW |
1 |
176,886,955 (GRCm39) |
missense |
probably damaging |
0.98 |
R9474:Akt3
|
UTSW |
1 |
176,852,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R9564:Akt3
|
UTSW |
1 |
176,907,769 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9680:Akt3
|
UTSW |
1 |
176,958,639 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGACCATCATTGAAGCTTACC -3'
(R):5'- CAGCTCCATAGGTTGTCATTGG -3'
Sequencing Primer
(F):5'- GAAGCTTACCGTTTATTTGGATCC -3'
(R):5'- GGCTAGTCTACATAGCAAGTTCCAG -3'
|
Posted On |
2018-08-01 |