Incidental Mutation 'IGL01779:Akt1'
ID 153889
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akt1
Ensembl Gene ENSMUSG00000001729
Gene Name thymoma viral proto-oncogene 1
Synonyms PKBalpha, PKB/Akt, Akt, PKB
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # IGL01779
Quality Score
Status
Chromosome 12
Chromosomal Location 112653821-112674884 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 112657169 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 286 (G286R)
Ref Sequence ENSEMBL: ENSMUSP00000001780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001780] [ENSMUST00000128300] [ENSMUST00000130342] [ENSMUST00000144550]
AlphaFold P31750
Predicted Effect probably damaging
Transcript: ENSMUST00000001780
AA Change: G286R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000001780
Gene: ENSMUSG00000001729
AA Change: G286R

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 noncoding transcript
Transcript: ENSMUST00000123563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127902
Predicted Effect probably benign
Transcript: ENSMUST00000128300
SMART Domains Protein: ENSMUSP00000122222
Gene: ENSMUSG00000001729

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 benign
Transcript: ENSMUST00000130342
SMART Domains Protein: ENSMUSP00000118190
Gene: ENSMUSG00000001729

DomainStartEndE-ValueType
PH 6 110 2.41e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139388
Predicted Effect probably benign
Transcript: ENSMUST00000144550
SMART Domains Protein: ENSMUSP00000123689
Gene: ENSMUSG00000001729

DomainStartEndE-ValueType
PH 6 110 2.41e-16 SMART
Pfam:Pkinase 150 202 2.6e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184981
Coding Region Coverage
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A T 5: 81,387,870 I119F probably damaging Het
Apof A G 10: 128,269,477 I167V probably benign Het
Arhgap15 A G 2: 44,065,045 E220G possibly damaging Het
Clca3a2 T A 3: 144,819,378 Y31F possibly damaging Het
Clmn T C 12: 104,782,140 I383V probably benign Het
Cntnap5b A G 1: 99,967,339 D112G probably damaging Het
Col8a1 A T 16: 57,628,363 H261Q unknown Het
Csmd3 A T 15: 47,857,894 V1551D probably benign Het
Ddx60 G A 8: 62,017,823 V1450M possibly damaging Het
Ethe1 A T 7: 24,595,009 H79L probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm11110 C T 17: 57,102,087 probably benign Het
Hs1bp3 C T 12: 8,341,945 T349I probably benign Het
Ifna16 A T 4: 88,676,645 I71N probably damaging Het
Il18bp A G 7: 102,016,795 Y59H possibly damaging Het
Kcnt1 T A 2: 25,900,967 I511N probably damaging Het
Mlph A G 1: 90,942,950 M528V probably benign Het
Olfr646 A G 7: 104,106,633 D118G probably damaging Het
Pprc1 T A 19: 46,062,202 I52N probably damaging Het
Rfx1 T A 8: 84,092,662 probably benign Het
Rnf17 A T 14: 56,462,063 I553F probably benign Het
Scaper A T 9: 55,892,240 H180Q probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc30a10 A T 1: 185,464,179 Q346L possibly damaging Het
Stambpl1 A T 19: 34,240,027 H422L possibly damaging Het
Trim67 G A 8: 124,828,121 G701R probably damaging Het
Vipr1 T C 9: 121,664,630 F249S probably damaging Het
Vmn2r117 G T 17: 23,477,241 D397E probably benign Het
Other mutations in Akt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Akt1 APN 12 112657671 missense probably damaging 1.00
IGL01886:Akt1 APN 12 112659158 missense probably benign 0.16
IGL02506:Akt1 APN 12 112659280 splice site probably benign
IGL02851:Akt1 APN 12 112657084 missense probably damaging 1.00
Aachen UTSW 12 112662260 missense probably damaging 1.00
Goettingen UTSW 12 112658429 missense possibly damaging 0.75
Halle UTSW 12 112658607 missense probably damaging 1.00
R0211:Akt1 UTSW 12 112655142 missense probably damaging 0.98
R0211:Akt1 UTSW 12 112655142 missense probably damaging 0.98
R1891:Akt1 UTSW 12 112659575 missense probably damaging 1.00
R1988:Akt1 UTSW 12 112655151 missense probably benign 0.02
R2018:Akt1 UTSW 12 112659625 missense probably damaging 0.99
R2019:Akt1 UTSW 12 112659625 missense probably damaging 0.99
R2023:Akt1 UTSW 12 112659637 missense probably benign 0.33
R3873:Akt1 UTSW 12 112656533 missense probably benign
R4446:Akt1 UTSW 12 112659133 missense probably benign 0.05
R4832:Akt1 UTSW 12 112657087 missense probably damaging 1.00
R5457:Akt1 UTSW 12 112657091 missense probably damaging 0.96
R5595:Akt1 UTSW 12 112658616 missense probably null 0.99
R5723:Akt1 UTSW 12 112657270 missense probably damaging 1.00
R5736:Akt1 UTSW 12 112656850 missense probably benign 0.12
R6058:Akt1 UTSW 12 112662200 missense probably damaging 0.99
R6473:Akt1 UTSW 12 112662260 missense probably damaging 1.00
R7045:Akt1 UTSW 12 112662301 nonsense probably null
R7129:Akt1 UTSW 12 112659649 missense probably benign 0.22
R7311:Akt1 UTSW 12 112657153 missense probably damaging 1.00
R8475:Akt1 UTSW 12 112658429 missense possibly damaging 0.75
R8778:Akt1 UTSW 12 112658668 missense probably benign 0.01
R8804:Akt1 UTSW 12 112658607 missense probably damaging 1.00
R9002:Akt1 UTSW 12 112659614 missense probably benign 0.20
R9184:Akt1 UTSW 12 112654718 missense possibly damaging 0.91
R9711:Akt1 UTSW 12 112658451 missense possibly damaging 0.95
Posted On 2014-02-04