Incidental Mutation 'R5414:Akt3'
| ID |
484557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akt3
|
| Ensembl Gene |
ENSMUSG00000019699 |
| Gene Name |
thymoma viral proto-oncogene 3 |
| Synonyms |
Nmf350, PKB gamma, D930002M15Rik |
| MMRRC Submission |
042983-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.593)
|
| Stock # |
R5414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
176847639-177085769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 176877817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 317
(V317A)
|
| 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: V317A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000019843
Gene: ENSMUSG00000019699
AA Change: V317A
| 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: V317A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106789
Gene: ENSMUSG00000019699
AA Change: V317A
| 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: V317A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106790
Gene: ENSMUSG00000019699
AA Change: V317A
| 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 |
0.7017 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,205,448 (GRCm39) |
S278P |
probably damaging |
Het |
| Acan |
A |
G |
7: 78,750,736 (GRCm39) |
T1836A |
probably benign |
Het |
| Akr1c18 |
T |
A |
13: 4,186,734 (GRCm39) |
D238V |
probably damaging |
Het |
| Atp2b2 |
G |
A |
6: 113,819,102 (GRCm39) |
P64S |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,752,757 (GRCm39) |
N609S |
probably benign |
Het |
| Bcat1 |
A |
G |
6: 144,961,173 (GRCm39) |
|
probably null |
Het |
| C1rl |
C |
T |
6: 124,485,427 (GRCm39) |
A266V |
probably damaging |
Het |
| Cd34 |
A |
G |
1: 194,630,219 (GRCm39) |
E51G |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,717,241 (GRCm39) |
E2161G |
possibly damaging |
Het |
| Clec2h |
G |
T |
6: 128,651,749 (GRCm39) |
A153S |
probably benign |
Het |
| Cnih1 |
T |
C |
14: 47,016,440 (GRCm39) |
T105A |
probably benign |
Het |
| Coro1c |
A |
G |
5: 113,986,607 (GRCm39) |
I279T |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,455,763 (GRCm39) |
T721A |
probably benign |
Het |
| Fbn2 |
C |
A |
18: 58,226,477 (GRCm39) |
A766S |
probably damaging |
Het |
| Focad |
C |
T |
4: 88,328,939 (GRCm39) |
|
probably benign |
Het |
| Galnt16 |
A |
T |
12: 80,630,822 (GRCm39) |
D300V |
probably damaging |
Het |
| Gbp2b |
T |
C |
3: 142,304,852 (GRCm39) |
L96P |
probably damaging |
Het |
| Gm10192 |
T |
C |
4: 97,071,346 (GRCm39) |
S20G |
probably null |
Het |
| Gm10288 |
T |
C |
3: 146,544,717 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4181 |
C |
T |
14: 51,873,047 (GRCm39) |
|
probably null |
Het |
| Gm6327 |
T |
A |
16: 12,578,222 (GRCm39) |
|
noncoding transcript |
Het |
| Hfm1 |
A |
G |
5: 107,049,942 (GRCm39) |
I409T |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,608,742 (GRCm39) |
E390G |
possibly damaging |
Het |
| Ifit1bl1 |
T |
A |
19: 34,571,324 (GRCm39) |
I378F |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,637,722 (GRCm39) |
D645G |
probably damaging |
Het |
| Krt33b |
T |
C |
11: 99,920,612 (GRCm39) |
T14A |
probably benign |
Het |
| Lrch3 |
T |
A |
16: 32,806,335 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,543,697 (GRCm39) |
L226H |
probably damaging |
Het |
| Myo1e |
C |
A |
9: 70,229,640 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Nploc4 |
A |
T |
11: 120,304,469 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or4b12 |
T |
C |
2: 90,096,046 (GRCm39) |
T243A |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,485,499 (GRCm39) |
I397V |
probably benign |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Pgm5 |
A |
G |
19: 24,686,689 (GRCm39) |
I506T |
probably damaging |
Het |
| Pgs1 |
T |
G |
11: 117,905,502 (GRCm39) |
I499S |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,557,330 (GRCm39) |
S253P |
probably damaging |
Het |
| Prag1 |
C |
G |
8: 36,606,776 (GRCm39) |
P839R |
probably benign |
Het |
| Rin3 |
C |
T |
12: 102,356,116 (GRCm39) |
Q806* |
probably null |
Het |
| Ros1 |
T |
C |
10: 52,031,189 (GRCm39) |
D484G |
probably damaging |
Het |
| Scamp5 |
A |
G |
9: 57,354,507 (GRCm39) |
V49A |
probably benign |
Het |
| Sis |
C |
A |
3: 72,859,826 (GRCm39) |
V310L |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,206,322 (GRCm39) |
T19A |
possibly damaging |
Het |
| Tcstv2b |
A |
C |
13: 120,373,872 (GRCm39) |
D139E |
probably damaging |
Het |
| Tenm3 |
A |
C |
8: 48,689,390 (GRCm39) |
S2066A |
probably damaging |
Het |
| Thra |
A |
G |
11: 98,651,783 (GRCm39) |
I102V |
probably benign |
Het |
| Trim30a |
A |
C |
7: 104,060,348 (GRCm39) |
V476G |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,978 (GRCm39) |
R718* |
probably null |
Het |
| Washc4 |
A |
G |
10: 83,391,967 (GRCm39) |
T218A |
possibly damaging |
Het |
| Xrcc1 |
A |
G |
7: 24,269,643 (GRCm39) |
Y401C |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,454 (GRCm39) |
T452A |
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 |
|
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 |
PCR Primer
(F):5'- TTGCATCTGAAGAGAGTGTTCG -3'
(R):5'- AGCTCCATAGGTTGTCATTGG -3'
Sequencing Primer
(F):5'- CGGGGGAATTTAATGTCTTCCATTAG -3'
(R):5'- GGCTAGTCTACATAGCAAGTTCCAG -3'
|
| Posted On |
2017-08-11 |
Incidental Mutation