Incidental Mutation 'R6752:Akt3'
ID 530811
Institutional Source Beutler Lab
Gene Symbol Akt3
Ensembl Gene ENSMUSG00000019699
Gene Name thymoma viral proto-oncogene 3
Synonyms Nmf350, PKB gamma, D930002M15Rik
MMRRC Submission 044869-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R6752 (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: 98.2%
  • 20x: 94.8%
Validation Efficiency 98% (55/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,086,309 (GRCm39) L45S probably benign Het
Agbl2 G A 2: 90,633,418 (GRCm39) C518Y probably damaging Het
Aox1 T C 1: 58,086,398 (GRCm39) I101T probably benign Het
Arhgap23 T C 11: 97,343,074 (GRCm39) F241S probably damaging Het
Asmt A G X: 169,110,096 (GRCm39) M202V probably benign Het
Atp6v0a2 A G 5: 124,779,452 (GRCm39) E189G probably damaging Het
Birc2 G A 9: 7,857,345 (GRCm39) A376V probably benign Het
Ccbe1 C T 18: 66,209,378 (GRCm39) probably null Het
Chst2 C A 9: 95,286,802 (GRCm39) E515* probably null Het
Col12a1 A T 9: 79,540,706 (GRCm39) N2426K possibly damaging Het
Dmrt2 A G 19: 25,655,706 (GRCm39) N435S probably damaging Het
Dnah14 A G 1: 181,421,017 (GRCm39) K123E probably benign Het
Dock4 T A 12: 40,870,616 (GRCm39) L1452Q probably damaging Het
Galnt7 G A 8: 58,105,985 (GRCm39) R10C probably damaging Het
Gm16506 A G 14: 43,964,876 (GRCm39) I22T unknown Het
H2-Q6 A G 17: 35,647,103 (GRCm39) T292A probably damaging Het
Ifne A G 4: 88,798,319 (GRCm39) M33T probably benign Het
Igf2r G A 17: 12,933,831 (GRCm39) R808W probably damaging Het
Igfbp5 T C 1: 72,903,068 (GRCm39) E169G probably damaging Het
Inppl1 G A 7: 101,481,749 (GRCm39) R198* probably null Het
Irgm1 T C 11: 48,757,290 (GRCm39) T174A probably damaging Het
Itih3 C T 14: 30,645,446 (GRCm39) G21S possibly damaging Het
Klra4 G T 6: 130,038,991 (GRCm39) Q134K probably benign Het
Mfsd1 T A 3: 67,503,936 (GRCm39) Y309* probably null Het
Mrps10 A G 17: 47,688,740 (GRCm39) N162S probably damaging Het
Mtmr14 T C 6: 113,217,358 (GRCm39) F90S probably damaging Het
Myh15 A G 16: 49,003,290 (GRCm39) D1783G probably damaging Het
Myo3b A G 2: 70,119,856 (GRCm39) E972G probably damaging Het
Myt1 G T 2: 181,442,875 (GRCm39) V455F probably damaging Het
Nbea A T 3: 55,944,640 (GRCm39) S575T probably benign Het
Nbea T A 3: 55,875,730 (GRCm39) T1647S probably benign Het
Ntn4 A G 10: 93,570,037 (GRCm39) N466S probably benign Het
Or10ag52 A G 2: 87,043,388 (GRCm39) M51V probably benign Het
Or5b114-ps1 T A 19: 13,352,890 (GRCm39) L188H unknown Het
Or5h27 T A 16: 59,006,694 (GRCm39) N51Y probably damaging Het
Pcdhgb4 T A 18: 37,853,704 (GRCm39) I33N probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pom121l2 T G 13: 22,165,939 (GRCm39) F70C probably damaging Het
Psmb5 T C 14: 54,854,212 (GRCm39) T89A probably benign Het
Rab11fip2 T C 19: 59,895,475 (GRCm39) D471G probably damaging Het
Rnh1 A G 7: 140,743,354 (GRCm39) V207A probably benign Het
Sh3tc2 C A 18: 62,094,108 (GRCm39) T49N probably benign Het
Skint4 T C 4: 111,977,060 (GRCm39) M158T possibly damaging Het
Skint7 T A 4: 111,837,463 (GRCm39) H80Q probably benign Het
Smg1 A G 7: 117,762,539 (GRCm39) probably benign Het
Sostdc1 T C 12: 36,364,411 (GRCm39) V40A probably benign Het
Sptlc1 C A 13: 53,489,394 (GRCm39) K437N possibly damaging Het
Stat2 T C 10: 128,119,622 (GRCm39) F503L probably damaging Het
Syt16 A T 12: 74,275,987 (GRCm39) probably null Het
Tspyl1 T C 10: 34,158,583 (GRCm39) S103P probably benign Het
Ube4a A T 9: 44,837,246 (GRCm39) S1053R probably damaging Het
Vipr1 A G 9: 121,482,959 (GRCm39) N58S probably damaging Het
Zfp184 C A 13: 22,143,578 (GRCm39) A428E probably damaging Het
Zfp292 A C 4: 34,808,593 (GRCm39) F1484V possibly damaging Het
Zfp599 G A 9: 22,160,840 (GRCm39) H442Y probably damaging Het
Zfp944 G A 17: 22,558,500 (GRCm39) T249I probably benign Het
Zkscan14 T A 5: 145,132,316 (GRCm39) H405L probably damaging 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
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'- TGGACCATCATTGAAGCTTACC -3'
(R):5'- CAGCTCCATAGGTTGTCATTGG -3'

Sequencing Primer
(F):5'- GAAGCTTACCGTTTATTTGGATCC -3'
(R):5'- GGCTAGTCTACATAGCAAGTTCCAG -3'
Posted On 2018-08-01