Incidental Mutation 'R7525:Akt3'
| ID |
582894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akt3
|
| Ensembl Gene |
ENSMUSG00000019699 |
| Gene Name |
thymoma viral proto-oncogene 3 |
| Synonyms |
Nmf350, PKB gamma, D930002M15Rik |
| MMRRC Submission |
045597-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R7525 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
176847639-177085769 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 176847673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 465
(K465*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019843]
[ENSMUST00000027785]
[ENSMUST00000111159]
[ENSMUST00000111160]
[ENSMUST00000123409]
|
| AlphaFold |
Q9WUA6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019843
AA Change: K465*
|
| SMART Domains |
Protein: ENSMUSP00000019843
Gene: ENSMUSG00000019699
AA Change: K465*
| 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: ENSMUST00000027785
|
| SMART Domains |
Protein: ENSMUSP00000027785
Gene: ENSMUSG00000026504
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCCAP
|
6 |
710 |
N/A |
PFAM |
|
| 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 |
probably benign
Transcript: ENSMUST00000123409
|
| SMART Domains |
Protein: ENSMUSP00000137948
Gene: ENSMUSG00000026504
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
|
coiled coil region
|
132 |
168 |
N/A |
INTRINSIC |
|
coiled coil region
|
228 |
278 |
N/A |
INTRINSIC |
|
coiled coil region
|
307 |
327 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,331,221 (GRCm39) |
T998A |
probably damaging |
Het |
| Aadacl4fm2 |
A |
G |
4: 144,291,580 (GRCm39) |
F42S |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,727,800 (GRCm39) |
D371G |
probably benign |
Het |
| Ankib1 |
T |
G |
5: 3,805,734 (GRCm39) |
N178H |
possibly damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,146,699 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,848,785 (GRCm39) |
D286G |
probably damaging |
Het |
| Bsdc1 |
A |
T |
4: 129,355,477 (GRCm39) |
|
probably benign |
Het |
| Camk4 |
T |
C |
18: 33,318,085 (GRCm39) |
V414A |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,338,293 (GRCm39) |
V139E |
possibly damaging |
Het |
| Dhrs13 |
C |
A |
11: 77,923,260 (GRCm39) |
N21K |
unknown |
Het |
| Dop1a |
C |
T |
9: 86,388,343 (GRCm39) |
A439V |
probably damaging |
Het |
| Dpy19l4 |
G |
A |
4: 11,317,160 (GRCm39) |
Q13* |
probably null |
Het |
| Ecpas |
A |
G |
4: 58,847,038 (GRCm39) |
I508T |
possibly damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,823,716 (GRCm39) |
S388P |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,974 (GRCm39) |
S251G |
probably benign |
Het |
| Eml4 |
T |
A |
17: 83,753,379 (GRCm39) |
L350Q |
probably damaging |
Het |
| Fblim1 |
A |
T |
4: 141,317,391 (GRCm39) |
L98H |
probably damaging |
Het |
| Fcrl6 |
T |
A |
1: 172,425,239 (GRCm39) |
N264I |
probably benign |
Het |
| Gzme |
A |
C |
14: 56,356,790 (GRCm39) |
D57E |
probably benign |
Het |
| H2-D1 |
A |
G |
17: 35,484,909 (GRCm39) |
T257A |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,481,728 (GRCm39) |
D3092E |
possibly damaging |
Het |
| Hrc |
A |
G |
7: 44,985,803 (GRCm39) |
E318G |
probably benign |
Het |
| Hspbp1 |
A |
G |
7: 4,666,435 (GRCm39) |
L315P |
probably damaging |
Het |
| Insr |
A |
T |
8: 3,242,642 (GRCm39) |
Y591N |
probably damaging |
Het |
| Lrch4 |
T |
A |
5: 137,637,727 (GRCm39) |
I582N |
probably damaging |
Het |
| Lrit2 |
A |
G |
14: 36,794,450 (GRCm39) |
K505E |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,547,428 (GRCm39) |
N4251K |
|
Het |
| Mfsd13a |
T |
C |
19: 46,357,716 (GRCm39) |
F290S |
probably damaging |
Het |
| Mgam |
T |
G |
6: 40,742,954 (GRCm39) |
N1791K |
probably benign |
Het |
| Mroh7 |
A |
T |
4: 106,566,899 (GRCm39) |
I450N |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,809,357 (GRCm39) |
M1771I |
probably benign |
Het |
| Or10ak12 |
A |
T |
4: 118,666,691 (GRCm39) |
F123L |
probably damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,188,338 (GRCm39) |
C34* |
probably null |
Het |
| Or8d1 |
A |
T |
9: 38,766,534 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8g55 |
T |
A |
9: 39,785,435 (GRCm39) |
L288* |
probably null |
Het |
| Parp14 |
A |
T |
16: 35,677,861 (GRCm39) |
H702Q |
probably benign |
Het |
| Pcdhga1 |
T |
C |
18: 37,795,281 (GRCm39) |
L95P |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,619,954 (GRCm39) |
T373A |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,274,336 (GRCm39) |
V836A |
possibly damaging |
Het |
| Pgap1 |
T |
A |
1: 54,570,081 (GRCm39) |
N322I |
probably benign |
Het |
| Pikfyve |
C |
T |
1: 65,283,585 (GRCm39) |
R741* |
probably null |
Het |
| Pip4k2c |
A |
G |
10: 127,044,773 (GRCm39) |
S80P |
probably damaging |
Het |
| Plekhh3 |
A |
G |
11: 101,057,445 (GRCm39) |
F271L |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,490,191 (GRCm39) |
Y565F |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,374,701 (GRCm39) |
R612G |
probably benign |
Het |
| Psap |
T |
C |
10: 60,135,253 (GRCm39) |
V303A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,659,528 (GRCm39) |
R1375H |
probably benign |
Het |
| Slc24a3 |
A |
C |
2: 145,455,450 (GRCm39) |
K446N |
probably benign |
Het |
| Slc39a12 |
T |
A |
2: 14,499,272 (GRCm39) |
M661K |
probably benign |
Het |
| Slc6a16 |
T |
C |
7: 44,908,537 (GRCm39) |
L39P |
probably benign |
Het |
| Syne1 |
T |
G |
10: 5,135,559 (GRCm39) |
|
probably null |
Het |
| Taar8c |
T |
C |
10: 23,977,764 (GRCm39) |
N16S |
probably benign |
Het |
| Tmem98 |
A |
G |
11: 80,708,344 (GRCm39) |
T105A |
probably damaging |
Het |
| Tmub1 |
T |
A |
5: 24,651,011 (GRCm39) |
Y216F |
probably damaging |
Het |
| Trim16 |
T |
G |
11: 62,711,580 (GRCm39) |
C84G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,561,573 (GRCm39) |
K28978* |
probably null |
Het |
| Usp38 |
A |
G |
8: 81,740,875 (GRCm39) |
V64A |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,576,406 (GRCm39) |
F469Y |
possibly damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,610,510 (GRCm39) |
W61R |
probably benign |
Het |
| Whamm |
G |
T |
7: 81,243,598 (GRCm39) |
G607C |
probably damaging |
Het |
| Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
| Zfp398 |
A |
G |
6: 47,842,752 (GRCm39) |
D268G |
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 |
|
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 |
|
|
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 |
|
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'- TTTGCTCTCTGGTAGCAGCAG -3'
(R):5'- TGAAGCAAGCACTCCCTGTC -3'
Sequencing Primer
(F):5'- CTCTCTGGTAGCAGCAGGTAAG -3'
(R):5'- TCCCTGTCCATAGCACAGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation