Incidental Mutation 'R1988:Akt1'
ID 222886
Institutional Source Beutler Lab
Gene Symbol Akt1
Ensembl Gene ENSMUSG00000001729
Gene Name thymoma viral proto-oncogene 1
Synonyms Akt, PKB/Akt, PKBalpha, PKB
MMRRC Submission 040000-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R1988 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 112620260-112641266 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112621585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 404 (I404V)
Ref Sequence ENSEMBL: ENSMUSP00000122222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001780] [ENSMUST00000128300] [ENSMUST00000130342] [ENSMUST00000144550]
AlphaFold P31750
Predicted Effect probably benign
Transcript: ENSMUST00000001780
AA Change: I447V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001780
Gene: ENSMUSG00000001729
AA Change: I447V

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
AA Change: I404V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000122222
Gene: ENSMUSG00000001729
AA Change: I404V

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 noncoding transcript
Transcript: ENSMUST00000159815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184981
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
Meta Mutation Damage Score 0.0633 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 96% (79/82)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,394 (GRCm39) D216V possibly damaging Het
2610021A01Rik C T 7: 41,276,081 (GRCm39) R595* probably null Het
Adgrl3 A G 5: 81,836,414 (GRCm39) D724G probably damaging Het
Akap6 T C 12: 53,187,578 (GRCm39) F1664S possibly damaging Het
Anxa13 T A 15: 58,205,344 (GRCm39) noncoding transcript Het
Atoh1 T C 6: 64,706,617 (GRCm39) V104A probably benign Het
Brwd1 T C 16: 95,822,437 (GRCm39) D1256G probably damaging Het
C9 ATTTT ATTT 15: 6,512,619 (GRCm39) probably null Het
Cd164 A G 10: 41,399,177 (GRCm39) T89A probably benign Het
Cep350 G C 1: 155,808,850 (GRCm39) N575K possibly damaging Het
Chrm5 A G 2: 112,310,597 (GRCm39) V173A probably damaging Het
Cnot1 A G 8: 96,468,572 (GRCm39) V1417A possibly damaging Het
Cntnap3 T C 13: 64,906,204 (GRCm39) T801A probably damaging Het
Cntnap5b A C 1: 99,999,865 (GRCm39) K208Q possibly damaging Het
Crx A T 7: 15,603,272 (GRCm39) V107D possibly damaging Het
Csrnp2 A G 15: 100,387,321 (GRCm39) F49S probably damaging Het
Ctbp1 A G 5: 33,408,248 (GRCm39) L228P possibly damaging Het
Ctdp1 A T 18: 80,492,616 (GRCm39) D626E possibly damaging Het
Cyp1a2 T C 9: 57,589,569 (GRCm39) T82A possibly damaging Het
Dnah3 T A 7: 119,566,793 (GRCm39) T2478S possibly damaging Het
Dnah3 T G 7: 119,567,182 (GRCm39) D2348A probably damaging Het
Dnah5 T C 15: 28,343,737 (GRCm39) I2379T probably damaging Het
Dnah6 A G 6: 73,069,175 (GRCm39) I2504T probably damaging Het
Dnase1l2 A C 17: 24,660,625 (GRCm39) W138G probably damaging Het
Dop1b T A 16: 93,563,061 (GRCm39) I855N probably damaging Het
Dsc3 T A 18: 20,098,903 (GRCm39) N759Y possibly damaging Het
Dtx2 C T 5: 136,061,147 (GRCm39) R510* probably null Het
Fat4 G T 3: 38,941,264 (GRCm39) M52I probably benign Het
Fat4 G A 3: 39,050,239 (GRCm39) E4034K probably damaging Het
Fezf2 T C 14: 12,344,350 (GRCm38) K279R probably damaging Het
Fsip2 G T 2: 82,806,861 (GRCm39) W1060L possibly damaging Het
G6pc1 T A 11: 101,258,768 (GRCm39) I49N probably damaging Het
Gars1 A G 6: 55,054,757 (GRCm39) E688G probably null Het
Gdf11 T C 10: 128,721,111 (GRCm39) N361S probably benign Het
Gli3 A C 13: 15,900,965 (GRCm39) M1451L probably benign Het
Heatr3 T C 8: 88,876,945 (GRCm39) I329T probably benign Het
Herc3 T G 6: 58,861,960 (GRCm39) probably null Het
Hrnr A G 3: 93,239,911 (GRCm39) N3383S unknown Het
Igsf3 A T 3: 101,338,612 (GRCm39) I309F probably benign Het
Kif21b C T 1: 136,080,002 (GRCm39) R513W probably damaging Het
Kif7 G T 7: 79,348,989 (GRCm39) H1195Q probably benign Het
Lpcat4 T C 2: 112,072,887 (GRCm39) V182A possibly damaging Het
Map3k21 T A 8: 126,654,294 (GRCm39) I371N probably benign Het
Mns1 G A 9: 72,356,041 (GRCm39) probably null Het
Myo3a A G 2: 22,468,140 (GRCm39) T465A possibly damaging Het
Nlrc4 A T 17: 74,733,938 (GRCm39) S992T probably benign Het
Notch4 G A 17: 34,806,562 (GRCm39) G1833E possibly damaging Het
Or52ad1 T A 7: 102,995,316 (GRCm39) Y273F possibly damaging Het
Or52n2 T C 7: 104,542,110 (GRCm39) T242A probably damaging Het
Or5g29 G A 2: 85,420,985 (GRCm39) V34I probably benign Het
Or5p5 A T 7: 107,413,907 (GRCm39) I39L probably benign Het
Or8a1b A T 9: 37,622,993 (GRCm39) I194K possibly damaging Het
Pcdh9 G A 14: 94,125,741 (GRCm39) P143L probably damaging Het
Pik3cd T A 4: 149,747,660 (GRCm39) T28S probably damaging Het
Pkd1 G T 17: 24,795,566 (GRCm39) probably null Het
Plk4 A T 3: 40,760,252 (GRCm39) S383C possibly damaging Het
Plxna2 T C 1: 194,326,297 (GRCm39) L77P probably damaging Het
Ppm1f T C 16: 16,741,530 (GRCm39) S335P probably damaging Het
Prr16 C T 18: 51,436,349 (GRCm39) P276L probably damaging Het
Rilp A G 11: 75,401,759 (GRCm39) probably null Het
Rspry1 A G 8: 95,358,682 (GRCm39) probably null Het
Serpinb9b T C 13: 33,213,542 (GRCm39) V33A probably benign Het
Slc4a10 C A 2: 62,098,548 (GRCm39) Q561K probably damaging Het
Smyd5 T C 6: 85,415,118 (GRCm39) I42T possibly damaging Het
Stk17b T C 1: 53,800,241 (GRCm39) N246D probably damaging Het
Suco T C 1: 161,646,380 (GRCm39) probably null Het
Tecpr1 C T 5: 144,141,515 (GRCm39) V785M possibly damaging Het
Telo2 C T 17: 25,320,642 (GRCm39) V756I probably benign Het
Tgm1 C T 14: 55,943,034 (GRCm39) R602H probably benign Het
Timeless A G 10: 128,080,056 (GRCm39) T402A probably damaging Het
Tnfaip2 T A 12: 111,416,325 (GRCm39) probably null Het
Trgc3 C A 13: 19,445,164 (GRCm39) F37L probably damaging Het
Trim5 A G 7: 103,914,828 (GRCm39) S414P probably damaging Het
Txnip A G 3: 96,467,066 (GRCm39) T247A possibly damaging Het
Vmn1r174 A T 7: 23,454,050 (GRCm39) T239S probably damaging Het
Vmn1r231 T A 17: 21,110,212 (GRCm39) E234D probably damaging Het
Zranb3 A T 1: 127,887,480 (GRCm39) N982K probably benign 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
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
R7045:Akt1 UTSW 12 112,628,735 (GRCm39) nonsense probably null
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'- CCTCCAAAGGGTTTGTTTGATTC -3'
(R):5'- AGAGCTGTTCCCTAGTGCTAG -3'

Sequencing Primer
(F):5'- CTGAGAGAGAGCTTAGTGGTTAAG -3'
(R):5'- TAGTGCCCACCCGATAAGGTC -3'
Posted On 2014-08-25