Incidental Mutation 'IGL03005:Akt3'
| ID |
407528 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akt3
|
| Ensembl Gene |
ENSMUSG00000019699 |
| Gene Name |
thymoma viral proto-oncogene 3 |
| Synonyms |
Nmf350, PKB gamma, D930002M15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
IGL03005
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
176847639-177085769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 176894793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 268
(V268E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019843]
[ENSMUST00000111159]
[ENSMUST00000111160]
|
| AlphaFold |
Q9WUA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019843
AA Change: V268E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019843
Gene: ENSMUSG00000019699
AA Change: V268E
| 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 damaging
Transcript: ENSMUST00000111159
AA Change: V268E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106789
Gene: ENSMUSG00000019699
AA Change: V268E
| 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 damaging
Transcript: ENSMUST00000111160
AA Change: V268E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106790
Gene: ENSMUSG00000019699
AA Change: V268E
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l1 |
T |
A |
6: 48,953,480 (GRCm39) |
Y468* |
probably null |
Het |
| Apob |
A |
G |
12: 8,043,059 (GRCm39) |
|
probably benign |
Het |
| Arhgap19 |
T |
C |
19: 41,772,856 (GRCm39) |
|
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,660,632 (GRCm39) |
L672P |
probably damaging |
Het |
| Cars1 |
A |
G |
7: 143,112,906 (GRCm39) |
F774L |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,773,973 (GRCm39) |
S128R |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,738,075 (GRCm39) |
N1569S |
probably damaging |
Het |
| Chmp7 |
G |
A |
14: 69,957,277 (GRCm39) |
R294C |
probably damaging |
Het |
| Col10a1 |
A |
T |
10: 34,271,734 (GRCm39) |
I569F |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,795,772 (GRCm39) |
V1169D |
probably damaging |
Het |
| Emg1 |
G |
A |
6: 124,681,557 (GRCm39) |
T229I |
probably damaging |
Het |
| Fmo9 |
C |
T |
1: 166,502,088 (GRCm39) |
S179N |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,912,371 (GRCm39) |
Y667C |
probably damaging |
Het |
| Gpsm2 |
A |
G |
3: 108,594,322 (GRCm39) |
|
probably benign |
Het |
| Gsdma |
A |
T |
11: 98,567,085 (GRCm39) |
E395V |
probably damaging |
Het |
| Gsdmd |
C |
T |
15: 75,739,015 (GRCm39) |
T464M |
possibly damaging |
Het |
| Iqschfp |
C |
A |
3: 68,526,010 (GRCm39) |
Q395K |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,763,136 (GRCm39) |
I36V |
possibly damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,139 (GRCm39) |
S199G |
probably damaging |
Het |
| Lypla1 |
C |
T |
1: 4,902,613 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
C |
T |
9: 107,791,748 (GRCm39) |
Q809* |
probably null |
Het |
| Mtr |
T |
A |
13: 12,250,335 (GRCm39) |
|
probably benign |
Het |
| Or4a39 |
G |
A |
2: 89,237,315 (GRCm39) |
T36I |
possibly damaging |
Het |
| Pax7 |
T |
A |
4: 139,556,007 (GRCm39) |
I156F |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,490,587 (GRCm39) |
L755Q |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,385,351 (GRCm39) |
P1140S |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,668,272 (GRCm39) |
L808P |
probably damaging |
Het |
| Pex1 |
G |
T |
5: 3,680,292 (GRCm39) |
Q971H |
probably null |
Het |
| Pgap6 |
C |
T |
17: 26,337,911 (GRCm39) |
L432F |
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,141,402 (GRCm39) |
V655E |
possibly damaging |
Het |
| Pnpla3 |
C |
T |
15: 84,058,469 (GRCm39) |
R163W |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,237,638 (GRCm39) |
L237P |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,902,340 (GRCm39) |
N442K |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,968,621 (GRCm39) |
D544A |
probably damaging |
Het |
| Spire2 |
C |
A |
8: 124,090,107 (GRCm39) |
P490T |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,767,150 (GRCm39) |
S554T |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation