Incidental Mutation 'R7045:Akt1'
ID 547268
Institutional Source Beutler Lab
Gene Symbol Akt1
Ensembl Gene ENSMUSG00000001729
Gene Name thymoma viral proto-oncogene 1
Synonyms Akt, PKB/Akt, PKBalpha, PKB
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R7045 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 112620260-112641266 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 112628735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 18 (Y18*)
Ref Sequence ENSEMBL: ENSMUSP00000123689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001780] [ENSMUST00000128300] [ENSMUST00000130342] [ENSMUST00000144550]
AlphaFold P31750
Predicted Effect probably null
Transcript: ENSMUST00000001780
AA Change: Y18*
SMART Domains Protein: ENSMUSP00000001780
Gene: ENSMUSG00000001729
AA Change: Y18*

DomainStartEndE-ValueType
PH 6 110 2.41e-16 SMART
S_TKc 150 408 1.56e-107 SMART
S_TK_X 409 476 1.44e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000128300
AA Change: Y18*
SMART Domains Protein: ENSMUSP00000122222
Gene: ENSMUSG00000001729
AA Change: Y18*

DomainStartEndE-ValueType
PH 6 110 2.41e-16 SMART
Pfam:Pkinase 150 278 1e-31 PFAM
Pfam:Pkinase_Tyr 150 278 3.8e-13 PFAM
Pfam:Pkinase_Tyr 276 350 8.7e-6 PFAM
Pfam:Pkinase 277 365 5e-17 PFAM
S_TK_X 366 433 1.44e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000130342
AA Change: Y18*
SMART Domains Protein: ENSMUSP00000118190
Gene: ENSMUSG00000001729
AA Change: Y18*

DomainStartEndE-ValueType
PH 6 110 2.41e-16 SMART
Predicted Effect probably null
Transcript: ENSMUST00000144550
AA Change: Y18*
SMART Domains Protein: ENSMUSP00000123689
Gene: ENSMUSG00000001729
AA Change: Y18*

DomainStartEndE-ValueType
PH 6 110 2.41e-16 SMART
Pfam:Pkinase 150 202 2.6e-6 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the founding member of the Akt serine-threonine protein kinase gene family that also includes Akt2 and Akt3. This kinase is a major downstream effector of the phosphatidylinositol 3-kinase (PI3K) pathway that mediates the effects of various growth factors such as platelet-derived growth factor (PDGF), epidermal growth factor (EGF), insulin and insulin-like growth factor I (IGF-I). It is activated through recruitment to cellular membranes by PI3K lipid products and by phosphorylation by 3-phosphoinositide dependent kinase-1. It then further phosphorylates different downstream proteins in response to various extracellular signals and thus plays a pivotal role in mediating a variety of cellular processes, such as glucose metabolism, glycogen biosynthesis, protein synthesis and turn over, inflammatory response, cell survival (anti-apoptosis) and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apoptosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,806,393 (GRCm39) A583S probably damaging Het
Aoc1l3 T C 6: 48,965,546 (GRCm39) V518A possibly damaging Het
Atp8b4 T C 2: 126,214,115 (GRCm39) N706S probably benign Het
Bace2 A G 16: 97,200,865 (GRCm39) N111S probably damaging Het
Cnp A T 11: 100,471,184 (GRCm39) R275S probably benign Het
Cs T A 10: 128,188,586 (GRCm39) M104K probably benign Het
Ctcfl G A 2: 172,954,167 (GRCm39) T310I probably damaging Het
Cyp2d40 T C 15: 82,645,763 (GRCm39) I81V probably benign Het
Ddx19a A G 8: 111,719,706 (GRCm39) V30A probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dock6 G A 9: 21,733,107 (GRCm39) A1062V probably damaging Het
Dpysl2 T C 14: 67,067,395 (GRCm39) D172G probably benign Het
Eml2 A G 7: 18,935,504 (GRCm39) D638G probably damaging Het
Epb41l4b C A 4: 57,103,522 (GRCm39) A105S possibly damaging Het
Fat4 A G 3: 38,942,750 (GRCm39) I548V probably benign Het
Gabrb2 G A 11: 42,484,758 (GRCm39) A272T probably damaging Het
Gask1a T C 9: 121,794,707 (GRCm39) L287P probably damaging Het
Hcn1 C T 13: 118,111,998 (GRCm39) P654L unknown Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hk1 C A 10: 62,122,349 (GRCm39) G477C probably damaging Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Kiss1r A G 10: 79,755,259 (GRCm39) probably null Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Loxl4 G T 19: 42,595,074 (GRCm39) N200K probably damaging Het
Lrba T C 3: 86,192,398 (GRCm39) V104A probably benign Het
Lyst T A 13: 13,812,293 (GRCm39) C902S probably damaging Het
Lyst T A 13: 13,809,485 (GRCm39) V385D probably benign Het
Mrpl28 T C 17: 26,345,261 (GRCm39) F227S probably benign Het
Mtmr3 A T 11: 4,448,896 (GRCm39) V289E possibly damaging Het
Ndst3 A G 3: 123,465,732 (GRCm39) V80A probably damaging Het
Nid2 C T 14: 19,829,749 (GRCm39) A680V possibly damaging Het
Nudcd1 T C 15: 44,269,226 (GRCm39) N145D probably benign Het
Nup210 A T 6: 91,031,433 (GRCm39) I812N probably damaging Het
Or2ak6 A T 11: 58,592,495 (GRCm39) probably benign Het
Or2g7 C T 17: 38,378,862 (GRCm39) H267Y probably benign Het
Or2y17 A T 11: 49,231,757 (GRCm39) T133S probably damaging Het
Or52n4b A G 7: 108,144,452 (GRCm39) K238R probably damaging Het
Or5b114-ps1 C A 19: 13,352,336 (GRCm39) N3K probably damaging Het
Or8c11 T A 9: 38,289,729 (GRCm39) M184K probably damaging Het
Or8k16 A G 2: 85,520,255 (GRCm39) S161G possibly damaging Het
Pcdhb6 A C 18: 37,469,329 (GRCm39) Q750P possibly damaging Het
Plppr4 T C 3: 117,153,683 (GRCm39) Y72C probably damaging Het
Rasgrf2 G T 13: 92,159,100 (GRCm39) probably benign Het
Sbk2 A G 7: 4,961,905 (GRCm39) I127T probably damaging Het
Smchd1 A C 17: 71,722,039 (GRCm39) S817A probably benign Het
Speer4b A T 5: 27,705,123 (GRCm39) N83K probably damaging Het
Strc A T 2: 121,201,207 (GRCm39) L1296Q probably damaging Het
Thap11 C A 8: 106,582,215 (GRCm39) R75S possibly damaging Het
Unc13a A C 8: 72,111,407 (GRCm39) L268R possibly damaging Het
Zfp39 A T 11: 58,781,269 (GRCm39) C498S unknown Het
Zfp507 T C 7: 35,494,978 (GRCm39) T22A possibly damaging Het
Zfp85 T C 13: 67,897,712 (GRCm39) Y120C probably benign Het
Zfp882 G A 8: 72,667,093 (GRCm39) probably null Het
Other mutations in Akt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Akt1 APN 12 112,624,105 (GRCm39) missense probably damaging 1.00
IGL01779:Akt1 APN 12 112,623,603 (GRCm39) missense probably damaging 1.00
IGL01886:Akt1 APN 12 112,625,592 (GRCm39) missense probably benign 0.16
IGL02506:Akt1 APN 12 112,625,714 (GRCm39) splice site probably benign
IGL02851:Akt1 APN 12 112,623,518 (GRCm39) missense probably damaging 1.00
Aachen UTSW 12 112,628,694 (GRCm39) missense probably damaging 1.00
Goettingen UTSW 12 112,624,863 (GRCm39) missense possibly damaging 0.75
Halle UTSW 12 112,625,041 (GRCm39) missense probably damaging 1.00
R0211:Akt1 UTSW 12 112,621,576 (GRCm39) missense probably damaging 0.98
R0211:Akt1 UTSW 12 112,621,576 (GRCm39) missense probably damaging 0.98
R1891:Akt1 UTSW 12 112,626,009 (GRCm39) missense probably damaging 1.00
R1988:Akt1 UTSW 12 112,621,585 (GRCm39) missense probably benign 0.02
R2018:Akt1 UTSW 12 112,626,059 (GRCm39) missense probably damaging 0.99
R2019:Akt1 UTSW 12 112,626,059 (GRCm39) missense probably damaging 0.99
R2023:Akt1 UTSW 12 112,626,071 (GRCm39) missense probably benign 0.33
R3873:Akt1 UTSW 12 112,622,967 (GRCm39) missense probably benign
R4446:Akt1 UTSW 12 112,625,567 (GRCm39) missense probably benign 0.05
R4832:Akt1 UTSW 12 112,623,521 (GRCm39) missense probably damaging 1.00
R5457:Akt1 UTSW 12 112,623,525 (GRCm39) missense probably damaging 0.96
R5595:Akt1 UTSW 12 112,625,050 (GRCm39) missense probably null 0.99
R5723:Akt1 UTSW 12 112,623,704 (GRCm39) missense probably damaging 1.00
R5736:Akt1 UTSW 12 112,623,284 (GRCm39) missense probably benign 0.12
R6058:Akt1 UTSW 12 112,628,634 (GRCm39) missense probably damaging 0.99
R6473:Akt1 UTSW 12 112,628,694 (GRCm39) missense probably damaging 1.00
R7129:Akt1 UTSW 12 112,626,083 (GRCm39) missense probably benign 0.22
R7311:Akt1 UTSW 12 112,623,587 (GRCm39) missense probably damaging 1.00
R8475:Akt1 UTSW 12 112,624,863 (GRCm39) missense possibly damaging 0.75
R8778:Akt1 UTSW 12 112,625,102 (GRCm39) missense probably benign 0.01
R8804:Akt1 UTSW 12 112,625,041 (GRCm39) missense probably damaging 1.00
R9002:Akt1 UTSW 12 112,626,048 (GRCm39) missense probably benign 0.20
R9184:Akt1 UTSW 12 112,621,152 (GRCm39) missense possibly damaging 0.91
R9711:Akt1 UTSW 12 112,624,885 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- ACCCTAGGACTAACAGGAGG -3'
(R):5'- CTAGATGATGCTCCCAGCTG -3'

Sequencing Primer
(F):5'- CTAGGACTAACAGGAGGCTCTC -3'
(R):5'- ATGCTCCCAGCTGCAGGC -3'
Posted On 2019-05-13