Incidental Mutation 'R6765:Akt3'
ID 531842
Institutional Source Beutler Lab
Gene Symbol Akt3
Ensembl Gene ENSMUSG00000019699
Gene Name thymoma viral proto-oncogene 3
Synonyms Nmf350, PKB gamma, D930002M15Rik
MMRRC Submission 044881-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R6765 (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*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 C A 7: 82,216,232 (GRCm39) D878E possibly damaging Het
Adipor2 A C 6: 119,334,203 (GRCm39) F336V possibly damaging Het
Aoc1 A G 6: 48,882,871 (GRCm39) N249S probably benign Het
Ap1b1 T A 11: 4,969,427 (GRCm39) L261Q probably damaging Het
Ap3b1 T A 13: 94,599,017 (GRCm39) D530E probably benign Het
Arid4b T A 13: 14,361,900 (GRCm39) M788K possibly damaging Het
Atp2c2 A T 8: 120,479,756 (GRCm39) I762F probably damaging Het
Bhlhe23 C A 2: 180,418,136 (GRCm39) R134L probably damaging Het
Cacna2d3 T C 14: 28,777,934 (GRCm39) D687G probably damaging Het
Ccdc136 G A 6: 29,405,940 (GRCm39) M95I probably benign Het
Cdk12 T A 11: 98,115,355 (GRCm39) I832N unknown Het
Clcn2 A C 16: 20,526,418 (GRCm39) probably null Het
Csrnp2 C T 15: 100,380,574 (GRCm39) R239Q probably damaging Het
Dhrs13 T A 11: 77,927,965 (GRCm39) D270E probably benign Het
Dlgap2 G A 8: 14,793,284 (GRCm39) G426D probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fam120a A G 13: 49,045,440 (GRCm39) Y799H probably damaging Het
Farp1 G A 14: 121,460,066 (GRCm39) V112I probably benign Het
Fhip2a A G 19: 57,367,177 (GRCm39) D240G probably benign Het
Fsip2 A G 2: 82,816,776 (GRCm39) I4170V probably benign Het
Gm12185 A G 11: 48,806,531 (GRCm39) V220A probably benign Het
Gpr37l1 T C 1: 135,094,860 (GRCm39) Y128C probably damaging Het
Gsto2 A T 19: 47,860,227 (GRCm39) R7* probably null Het
Itih3 C T 14: 30,631,430 (GRCm39) G822D probably benign Het
Kcnu1 A T 8: 26,403,673 (GRCm39) D728V probably damaging Het
Khdc4 G T 3: 88,593,736 (GRCm39) G42W probably damaging Het
Lnpep G A 17: 17,750,758 (GRCm39) T976I probably damaging Het
Map1b A C 13: 99,562,449 (GRCm39) H2420Q unknown Het
Mc1r A G 8: 124,134,435 (GRCm39) K63E probably damaging Het
Mpped1 G A 15: 83,720,584 (GRCm39) V15M probably damaging Het
Ncor1 T C 11: 62,264,272 (GRCm39) T103A probably benign Het
Nhsl1 A T 10: 18,407,062 (GRCm39) T1399S probably benign Het
Nlrc5 C T 8: 95,216,996 (GRCm39) T995M probably benign Het
Nrbp1 G A 5: 31,403,190 (GRCm39) probably null Het
Or10g9 A C 9: 39,912,493 (GRCm39) F10C probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or8k27 T C 2: 86,275,580 (GRCm39) T249A probably benign Het
Pcdhb13 T C 18: 37,576,663 (GRCm39) L347P probably damaging Het
Pkhd1 T C 1: 20,128,563 (GRCm39) T4047A probably benign Het
Prrt2 T A 7: 126,618,769 (GRCm39) D232V probably damaging Het
Psmd5 A C 2: 34,746,545 (GRCm39) M344R probably benign Het
Pwp1 G A 10: 85,720,397 (GRCm39) E345K probably damaging Het
Qsox1 A G 1: 155,666,851 (GRCm39) Y213H probably benign Het
Rmc1 A G 18: 12,309,203 (GRCm39) N92D possibly damaging Het
Sclt1 T C 3: 41,685,337 (GRCm39) R39G unknown Het
Syne1 A T 10: 5,093,285 (GRCm39) probably null Het
Tmem163 G T 1: 127,479,078 (GRCm39) A147E probably damaging Het
Trav13n-4 A T 14: 53,601,557 (GRCm39) M109L probably benign Het
Trp53bp1 T C 2: 121,039,790 (GRCm39) E1283G probably damaging Het
Trpm6 T A 19: 18,855,129 (GRCm39) D1929E probably damaging Het
Upb1 A T 10: 75,273,978 (GRCm39) D335V probably damaging Het
Vps26b T C 9: 26,924,104 (GRCm39) E213G probably damaging Het
Vwc2 C T 11: 11,104,215 (GRCm39) T249I probably benign Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zan A G 5: 137,391,409 (GRCm39) C4692R unknown Het
Zfp106 T C 2: 120,369,935 (GRCm39) E29G probably damaging Het
Zfp551 G A 7: 12,150,767 (GRCm39) A214V possibly damaging Het
Zfp981 T A 4: 146,622,363 (GRCm39) H429Q probably benign Het
Other mutations in Akt3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GACCATCATTGAAGCTTACCG -3'
(R):5'- TGCAGCTCCATAGGTTGTCATTG -3'

Sequencing Primer
(F):5'- GAAGCTTACCGTTTATTTGGATCC -3'
(R):5'- GGCTAGTCTACATAGCAAGTTCCAG -3'
Posted On 2018-08-29