Incidental Mutation 'R1403:Akt3'
ID |
188589 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akt3
|
Ensembl Gene |
ENSMUSG00000019699 |
Gene Name |
thymoma viral proto-oncogene 3 |
Synonyms |
Nmf350, PKB gamma, D930002M15Rik |
MMRRC Submission |
039465-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.499)
|
Stock # |
R1403 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
176847639-177085769 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 176958676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019843]
[ENSMUST00000111159]
[ENSMUST00000111160]
|
AlphaFold |
Q9WUA6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019843
|
SMART Domains |
Protein: ENSMUSP00000019843 Gene: ENSMUSG00000019699
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 benign
Transcript: ENSMUST00000111159
|
SMART Domains |
Protein: ENSMUSP00000106789 Gene: ENSMUSG00000019699
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 benign
Transcript: ENSMUST00000111160
|
SMART Domains |
Protein: ENSMUSP00000106790 Gene: ENSMUSG00000019699
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: ENSMUST00000194121
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
94% (51/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
G |
A |
4: 53,059,253 (GRCm39) |
|
probably benign |
Het |
AC238840.3 |
T |
G |
7: 38,567,345 (GRCm39) |
I28L |
probably benign |
Het |
Acsf2 |
G |
T |
11: 94,453,700 (GRCm39) |
N420K |
probably benign |
Het |
Adam26a |
A |
T |
8: 44,022,229 (GRCm39) |
C420* |
probably null |
Het |
Afap1l1 |
T |
C |
18: 61,874,909 (GRCm39) |
Y424C |
probably damaging |
Het |
Agl |
A |
G |
3: 116,576,246 (GRCm39) |
V553A |
probably benign |
Het |
Akr7a5 |
T |
A |
4: 139,045,434 (GRCm39) |
M325K |
probably damaging |
Het |
Aldh7a1 |
C |
A |
18: 56,692,341 (GRCm39) |
E87* |
probably null |
Het |
Arhgap29 |
A |
G |
3: 121,767,578 (GRCm39) |
K7E |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,466,114 (GRCm39) |
D1959E |
probably benign |
Het |
Cdc42se2 |
A |
G |
11: 54,611,192 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Chil5 |
G |
T |
3: 105,925,409 (GRCm39) |
Q171K |
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dhrs7c |
A |
T |
11: 67,702,476 (GRCm39) |
I155F |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,603,300 (GRCm39) |
|
probably null |
Het |
Ell |
T |
A |
8: 71,044,138 (GRCm39) |
|
probably benign |
Het |
Fam124b |
T |
C |
1: 80,191,056 (GRCm39) |
Y109C |
possibly damaging |
Het |
Gak |
T |
A |
5: 108,739,011 (GRCm39) |
K156M |
probably damaging |
Het |
Gm9797 |
C |
A |
10: 11,485,294 (GRCm39) |
|
noncoding transcript |
Het |
Got1l1 |
C |
G |
8: 27,690,745 (GRCm39) |
|
probably null |
Het |
Grm1 |
T |
C |
10: 10,955,879 (GRCm39) |
D135G |
probably benign |
Het |
Hrh3 |
T |
G |
2: 179,744,547 (GRCm39) |
D131A |
probably damaging |
Het |
Itpr1 |
A |
T |
6: 108,366,514 (GRCm39) |
Q979L |
probably null |
Het |
Kdm7a |
C |
A |
6: 39,128,187 (GRCm39) |
|
probably benign |
Het |
Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
Lingo2 |
A |
T |
4: 35,709,420 (GRCm39) |
C187S |
possibly damaging |
Het |
Lrp1 |
T |
A |
10: 127,417,760 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
T |
C |
7: 27,028,464 (GRCm39) |
N266S |
unknown |
Het |
Mgam |
G |
A |
6: 40,643,815 (GRCm39) |
S581N |
possibly damaging |
Het |
Mrgpra9 |
T |
A |
7: 46,885,386 (GRCm39) |
I94L |
probably benign |
Het |
Msantd4 |
A |
T |
9: 4,384,023 (GRCm39) |
I115F |
probably benign |
Het |
Mterf3 |
A |
G |
13: 67,077,944 (GRCm39) |
|
probably benign |
Het |
Neurl1a |
C |
A |
19: 47,242,150 (GRCm39) |
N414K |
probably damaging |
Het |
Nfkbiz |
A |
G |
16: 55,636,833 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
C |
17: 90,950,481 (GRCm39) |
L566R |
probably benign |
Het |
Nsmce1 |
A |
G |
7: 125,067,027 (GRCm39) |
|
probably benign |
Het |
Or5p59 |
T |
A |
7: 107,702,822 (GRCm39) |
I102N |
probably benign |
Het |
Prl7d1 |
A |
T |
13: 27,893,180 (GRCm39) |
F243I |
possibly damaging |
Het |
Rbm27 |
T |
C |
18: 42,450,746 (GRCm39) |
S509P |
probably damaging |
Het |
Rnf126 |
C |
T |
10: 79,596,702 (GRCm39) |
A239T |
probably benign |
Het |
Rnf44 |
C |
T |
13: 54,829,821 (GRCm39) |
E306K |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,416,520 (GRCm39) |
R1531G |
possibly damaging |
Het |
Sf3b4 |
A |
G |
3: 96,080,953 (GRCm39) |
|
probably null |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Syt15 |
C |
A |
14: 33,943,159 (GRCm39) |
|
probably benign |
Het |
Vcan |
T |
A |
13: 89,836,603 (GRCm39) |
E2980D |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,709,268 (GRCm39) |
|
probably benign |
Het |
Vwa2 |
C |
T |
19: 56,869,570 (GRCm39) |
P2S |
unknown |
Het |
Wdr77 |
G |
A |
3: 105,874,573 (GRCm39) |
V322I |
possibly damaging |
Het |
Zfp12 |
C |
A |
5: 143,230,535 (GRCm39) |
Y287* |
probably null |
Het |
Zfp937 |
T |
A |
2: 150,080,868 (GRCm39) |
Y299* |
probably null |
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 |
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 |
|
R6752: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 |
|
Posted On |
2014-05-09 |