Incidental Mutation 'R6787:Akt3'
| ID |
532412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akt3
|
| Ensembl Gene |
ENSMUSG00000019699 |
| Gene Name |
thymoma viral proto-oncogene 3 |
| Synonyms |
Nmf350, PKB gamma, D930002M15Rik |
| MMRRC Submission |
044901-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.593)
|
| Stock # |
R6787 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
176847639-177085769 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 176877756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 337
(Y337*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019843]
[ENSMUST00000111159]
[ENSMUST00000111160]
|
| AlphaFold |
Q9WUA6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019843
AA Change: Y337*
|
| SMART Domains |
Protein: ENSMUSP00000019843
Gene: ENSMUSG00000019699
AA Change: Y337*
| 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 null
Transcript: ENSMUST00000111159
AA Change: Y337*
|
| SMART Domains |
Protein: ENSMUSP00000106789
Gene: ENSMUSG00000019699
AA Change: Y337*
| 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 null
Transcript: ENSMUST00000111160
AA Change: Y337*
|
| SMART Domains |
Protein: ENSMUSP00000106790
Gene: ENSMUSG00000019699
AA Change: Y337*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
96% (51/53) |
| 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 |
|---|
| 2700097O09Rik |
G |
A |
12: 55,126,768 (GRCm39) |
T32I |
probably benign |
Het |
| 4930486L24Rik |
T |
A |
13: 61,000,922 (GRCm39) |
I205L |
probably benign |
Het |
| Aatk |
C |
T |
11: 119,901,508 (GRCm39) |
V963M |
probably damaging |
Het |
| Adra1b |
C |
A |
11: 43,726,242 (GRCm39) |
R225L |
probably damaging |
Het |
| Adrb1 |
T |
C |
19: 56,711,021 (GRCm39) |
V73A |
probably damaging |
Het |
| BC035947 |
G |
T |
1: 78,475,527 (GRCm39) |
P335Q |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,104,553 (GRCm39) |
F2189L |
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,342,924 (GRCm39) |
I635V |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,046,374 (GRCm39) |
D42E |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,274,607 (GRCm39) |
Y878* |
probably null |
Het |
| Clpb |
A |
T |
7: 101,312,866 (GRCm39) |
|
probably benign |
Het |
| Cpeb3 |
T |
C |
19: 37,022,089 (GRCm39) |
I569V |
possibly damaging |
Het |
| Cpne6 |
A |
T |
14: 55,752,701 (GRCm39) |
D297V |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,894,976 (GRCm39) |
T165A |
probably benign |
Het |
| Fam98b |
T |
C |
2: 117,093,402 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
C |
3: 53,561,744 (GRCm39) |
N921S |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,260,211 (GRCm39) |
V1039E |
probably benign |
Het |
| Gmip |
A |
G |
8: 70,266,436 (GRCm39) |
E212G |
probably damaging |
Het |
| Gpcpd1 |
C |
T |
2: 132,379,758 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,392,766 (GRCm39) |
N796K |
probably damaging |
Het |
| Hadhb |
T |
C |
5: 30,360,247 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,119,609 (GRCm39) |
S472T |
probably damaging |
Het |
| Kcna4 |
G |
A |
2: 107,125,670 (GRCm39) |
E135K |
possibly damaging |
Het |
| Kmt2c |
G |
T |
5: 25,480,737 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,091,020 (GRCm39) |
I1620T |
unknown |
Het |
| Lins1 |
A |
G |
7: 66,363,902 (GRCm39) |
E594G |
probably benign |
Het |
| Lrrc38 |
T |
A |
4: 143,096,364 (GRCm39) |
M225K |
probably benign |
Het |
| Mphosph9 |
A |
G |
5: 124,399,090 (GRCm39) |
I975T |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,874 (GRCm39) |
F38S |
probably benign |
Het |
| Myo1h |
G |
A |
5: 114,458,714 (GRCm39) |
G150R |
probably damaging |
Het |
| Oas2 |
T |
G |
5: 120,876,863 (GRCm39) |
I391L |
possibly damaging |
Het |
| Or4a70 |
T |
A |
2: 89,324,378 (GRCm39) |
R93* |
probably null |
Het |
| Or5p72 |
T |
C |
7: 108,021,889 (GRCm39) |
I37T |
possibly damaging |
Het |
| Or6c3b |
T |
A |
10: 129,527,391 (GRCm39) |
D173V |
possibly damaging |
Het |
| Or7e178 |
T |
C |
9: 20,247,221 (GRCm39) |
D14G |
probably benign |
Het |
| Pdcd5 |
T |
C |
7: 35,342,063 (GRCm39) |
T182A |
probably damaging |
Het |
| Pdlim7 |
T |
C |
13: 55,656,810 (GRCm39) |
D48G |
probably damaging |
Het |
| Polr3b |
A |
C |
10: 84,464,489 (GRCm39) |
|
probably null |
Het |
| Psmd5 |
C |
T |
2: 34,747,649 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Sdhb |
T |
C |
4: 140,703,501 (GRCm39) |
Y208H |
probably damaging |
Het |
| Serinc5 |
G |
A |
13: 92,842,740 (GRCm39) |
V397I |
possibly damaging |
Het |
| Sik2 |
A |
T |
9: 50,909,834 (GRCm39) |
M73K |
possibly damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,770,487 (GRCm39) |
|
probably null |
Het |
| Slco1a1 |
T |
C |
6: 141,882,213 (GRCm39) |
I119V |
probably benign |
Het |
| Srd5a1 |
T |
C |
13: 69,759,418 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,754,948 (GRCm39) |
I1111V |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,949,779 (GRCm39) |
|
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 53,992,591 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
T |
17: 34,929,710 (GRCm39) |
T2815S |
probably benign |
Het |
| Txnip |
T |
A |
3: 96,467,623 (GRCm39) |
I363N |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,499 (GRCm39) |
N134K |
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 |
|
|
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'- ATGGACCATCATTGAAGCTTACC -3'
(R):5'- AGCTCCATAGGTTGTCATTGG -3'
Sequencing Primer
(F):5'- GAAGCTTACCGTTTATTTGGATCC -3'
(R):5'- GGCTAGTCTACATAGCAAGTTCCAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation