Incidental Mutation 'R8000:Akt3'
| ID |
616302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akt3
|
| Ensembl Gene |
ENSMUSG00000019699 |
| Gene Name |
thymoma viral proto-oncogene 3 |
| Synonyms |
Nmf350, PKB gamma, D930002M15Rik |
| MMRRC Submission |
046040-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R8000 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
176847639-177085769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 176877763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 335
(V335D)
|
| 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: V335D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019843
Gene: ENSMUSG00000019699
AA Change: V335D
| 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: V335D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106789
Gene: ENSMUSG00000019699
AA Change: V335D
| 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: V335D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106790
Gene: ENSMUSG00000019699
AA Change: V335D
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
G |
3: 59,924,796 (GRCm39) |
K121R |
possibly damaging |
Het |
| Acaca |
A |
G |
11: 84,283,057 (GRCm39) |
K2208E |
possibly damaging |
Het |
| Actn1 |
A |
G |
12: 80,245,782 (GRCm39) |
F134L |
probably damaging |
Het |
| Arhgef10 |
T |
G |
8: 14,980,054 (GRCm39) |
I98S |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,637,574 (GRCm39) |
N209S |
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,519,018 (GRCm39) |
P59L |
unknown |
Het |
| Dmwd |
C |
T |
7: 18,814,660 (GRCm39) |
L437F |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,883,118 (GRCm39) |
L1642I |
probably benign |
Het |
| Fads2b |
A |
G |
2: 85,349,070 (GRCm39) |
V14A |
probably benign |
Het |
| Fap |
A |
G |
2: 62,333,142 (GRCm39) |
|
probably null |
Het |
| Fbh1 |
A |
T |
2: 11,772,100 (GRCm39) |
Y194N |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,910,536 (GRCm39) |
T3322A |
probably damaging |
Het |
| Frey1 |
A |
G |
2: 92,215,872 (GRCm39) |
K69E |
unknown |
Het |
| Gabra4 |
A |
G |
5: 71,781,304 (GRCm39) |
F369S |
probably damaging |
Het |
| Igkv9-124 |
T |
A |
6: 67,919,136 (GRCm39) |
D92V |
probably damaging |
Het |
| Kcna6 |
C |
A |
6: 126,715,948 (GRCm39) |
E314* |
probably null |
Het |
| Kyat1 |
A |
C |
2: 30,082,065 (GRCm39) |
S25A |
probably benign |
Het |
| Lars2 |
G |
A |
9: 123,265,309 (GRCm39) |
G455D |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,613,418 (GRCm39) |
H478R |
probably benign |
Het |
| Mier1 |
A |
T |
4: 102,988,240 (GRCm39) |
T83S |
probably damaging |
Het |
| Mmp1a |
C |
A |
9: 7,476,215 (GRCm39) |
H437Q |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Neb |
G |
T |
2: 52,178,856 (GRCm39) |
A1300D |
probably damaging |
Het |
| Nell2 |
T |
A |
15: 95,333,155 (GRCm39) |
L167F |
probably damaging |
Het |
| Or10h1 |
G |
C |
17: 33,418,321 (GRCm39) |
A100P |
probably damaging |
Het |
| Or12j2 |
T |
A |
7: 139,916,255 (GRCm39) |
M160K |
possibly damaging |
Het |
| Or4d10c |
T |
C |
19: 12,065,358 (GRCm39) |
D266G |
probably damaging |
Het |
| Pald1 |
T |
C |
10: 61,183,218 (GRCm39) |
T339A |
probably benign |
Het |
| Pex13 |
A |
C |
11: 23,605,915 (GRCm39) |
L105W |
probably damaging |
Het |
| Prxl2a |
A |
C |
14: 40,716,483 (GRCm39) |
*230G |
probably null |
Het |
| Ptprd |
A |
C |
4: 75,984,479 (GRCm39) |
F556V |
possibly damaging |
Het |
| Rgp1 |
T |
A |
4: 43,581,664 (GRCm39) |
C314S |
probably benign |
Het |
| Rnaseh2a |
G |
A |
8: 85,692,678 (GRCm39) |
|
probably benign |
Het |
| Rpl7 |
A |
T |
1: 16,172,949 (GRCm39) |
M154K |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,373,034 (GRCm39) |
L1409Q |
probably damaging |
Het |
| Slc35f3 |
A |
G |
8: 127,047,812 (GRCm39) |
T51A |
probably benign |
Het |
| Slc7a10 |
A |
G |
7: 34,899,865 (GRCm39) |
Y76C |
|
Het |
| Slk |
G |
T |
19: 47,597,344 (GRCm39) |
A51S |
|
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Stk38 |
A |
T |
17: 29,211,422 (GRCm39) |
V51E |
probably benign |
Het |
| Tecta |
A |
T |
9: 42,278,480 (GRCm39) |
C1009* |
probably null |
Het |
| Vmn1r228 |
A |
T |
17: 20,997,227 (GRCm39) |
M97K |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,827,403 (GRCm39) |
D931G |
probably damaging |
Het |
| Zfp503 |
T |
C |
14: 22,036,227 (GRCm39) |
T230A |
possibly 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 |
|
|
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 |
|
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'- GGACCATCATTGAAGCTTACCG -3'
(R):5'- TGCAGCTCCATAGGTTGTCATTG -3'
Sequencing Primer
(F):5'- GAAGCTTACCGTTTATTTGGATCC -3'
(R):5'- GGCTAGTCTACATAGCAAGTTCCAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation