Incidental Mutation 'R0211:Akt1'
ID 35562
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 038462-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R0211 (G1)
Quality Score 141
Status Not validated
Chromosome 12
Chromosomal Location 112620260-112641266 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112621576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 407 (T407A)
Ref Sequence ENSEMBL: ENSMUSP00000122222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001780] [ENSMUST00000128300] [ENSMUST00000130342] [ENSMUST00000144550]
AlphaFold P31750
Predicted Effect possibly damaging
Transcript: ENSMUST00000001780
AA Change: T450A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001780
Gene: ENSMUSG00000001729
AA Change: T450A

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 damaging
Transcript: ENSMUST00000128300
AA Change: T407A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122222
Gene: ENSMUSG00000001729
AA Change: T407A

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: ENSMUST00000184981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159815
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
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.0%
  • 10x: 94.6%
  • 20x: 89.0%
Validation Efficiency 100% (1/1)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,262,870 (GRCm39) L1401P possibly damaging Het
4930503B20Rik C T 3: 146,356,251 (GRCm39) R219H probably benign Het
Abcc9 T A 6: 142,634,710 (GRCm39) I185F probably benign Het
Adgrf1 T C 17: 43,607,581 (GRCm39) L100P probably damaging Het
Alk C T 17: 72,910,511 (GRCm39) R65H probably damaging Het
Aplp2 T C 9: 31,069,086 (GRCm39) E525G probably damaging Het
Arhgef12 G A 9: 42,883,300 (GRCm39) R1411C probably damaging Het
Arnt T A 3: 95,383,460 (GRCm39) M242K probably damaging Het
Atad5 T G 11: 79,986,473 (GRCm39) V520G probably benign Het
Avpr1a T A 10: 122,285,374 (GRCm39) M222K possibly damaging Het
Cbr2 T A 11: 120,621,614 (GRCm39) I88L probably benign Het
Cc2d2a T A 5: 43,845,608 (GRCm39) probably null Het
Ccdc51 T C 9: 108,918,441 (GRCm39) M10T probably benign Het
Cntnap5b T A 1: 100,406,099 (GRCm39) D1136E possibly damaging Het
Coil T A 11: 88,872,979 (GRCm39) S447T probably damaging Het
Cryba1 T A 11: 77,609,693 (GRCm39) Y179F probably damaging Het
Dcaf4 T A 12: 83,582,735 (GRCm39) F277I probably damaging Het
Ddost G A 4: 138,036,913 (GRCm39) V159M probably damaging Het
Dnaaf4 A T 9: 72,868,649 (GRCm39) R127S possibly damaging Het
Dnajb6 T C 5: 29,990,077 (GRCm39) probably benign Het
Dnase2a A G 8: 85,635,417 (GRCm39) probably benign Het
Dscam T C 16: 96,517,279 (GRCm39) I877V possibly damaging Het
Efcc1 A T 6: 87,726,136 (GRCm39) T312S probably benign Het
Elp1 T A 4: 56,795,545 (GRCm39) I143F probably damaging Het
Ermard A T 17: 15,242,205 (GRCm39) Q127L probably damaging Het
F2 T C 2: 91,460,503 (GRCm39) E329G probably damaging Het
Foxc2 T A 8: 121,843,355 (GRCm39) M1K probably null Het
Fuz T A 7: 44,548,446 (GRCm39) probably null Het
Ggnbp2 G A 11: 84,731,139 (GRCm39) T325M probably damaging Het
Gm6408 T A 5: 146,419,870 (GRCm39) F115I probably benign Het
Gp6 C T 7: 4,376,208 (GRCm39) probably null Het
Grin2a A G 16: 9,397,037 (GRCm39) S1017P possibly damaging Het
H2-T5 T C 17: 36,478,899 (GRCm39) T117A probably damaging Het
Hmmr A T 11: 40,605,635 (GRCm39) M318K probably damaging Het
Ifi205 T C 1: 173,855,994 (GRCm39) E12G probably benign Het
Ift74 C T 4: 94,567,492 (GRCm39) T395I probably benign Het
Irf8 A T 8: 121,466,714 (GRCm39) D53V probably damaging Het
Itgad A G 7: 127,803,813 (GRCm39) Y69C probably damaging Het
Itpr2 C A 6: 146,096,111 (GRCm39) R2084L probably benign Het
Krt4 C A 15: 101,831,217 (GRCm39) S228I possibly damaging Het
Lpin3 A T 2: 160,740,601 (GRCm39) D382V probably damaging Het
Ltbp3 T C 19: 5,802,171 (GRCm39) probably null Het
Map4k3 C T 17: 80,952,270 (GRCm39) A179T probably damaging Het
Nck1 A T 9: 100,379,820 (GRCm39) W144R probably damaging Het
Ndufb9 A T 15: 58,811,131 (GRCm39) Q139L possibly damaging Het
Ngfr T G 11: 95,462,738 (GRCm39) E300A probably damaging Het
Nin T G 12: 70,061,649 (GRCm39) T2072P probably damaging Het
Nop2 T G 6: 125,118,307 (GRCm39) L529R probably damaging Het
Nrm T A 17: 36,175,503 (GRCm39) L203Q probably damaging Het
Nynrin T C 14: 56,109,255 (GRCm39) F1454S probably benign Het
Or10ak7 T A 4: 118,791,467 (GRCm39) M191L probably benign Het
Or5b101 T C 19: 13,005,646 (GRCm39) T16A possibly damaging Het
Or8j3c A C 2: 86,253,451 (GRCm39) S190A probably damaging Het
Os9 A G 10: 126,956,905 (GRCm39) V27A probably damaging Het
Osbpl9 T G 4: 108,930,321 (GRCm39) T332P probably damaging Het
Pcdhb10 A T 18: 37,547,059 (GRCm39) M712L probably benign Het
Pcx C T 19: 4,670,227 (GRCm39) A935V probably damaging Het
Pdzd7 A G 19: 45,022,106 (GRCm39) V514A possibly damaging Het
Plin4 C T 17: 56,409,242 (GRCm39) G1326D probably damaging Het
Plxnb1 T A 9: 108,932,731 (GRCm39) Y568* probably null Het
Pmfbp1 T A 8: 110,268,372 (GRCm39) V973D probably benign Het
Ppp2r1b T C 9: 50,772,925 (GRCm39) V70A probably benign Het
Prkar2b C A 12: 32,022,183 (GRCm39) V201L probably benign Het
Rgr T G 14: 36,768,925 (GRCm39) T37P probably damaging Het
Ripk3 A T 14: 56,025,375 (GRCm39) L63Q probably damaging Het
Rpusd2 A G 2: 118,868,893 (GRCm39) S439G probably benign Het
Serac1 T A 17: 6,100,335 (GRCm39) R438S possibly damaging Het
Slc19a1 T A 10: 76,874,300 (GRCm39) S24T possibly damaging Het
Slc6a21 A C 7: 44,937,667 (GRCm39) T653P possibly damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spdef C T 17: 27,933,894 (GRCm39) R309H probably damaging Het
Srp68 A T 11: 116,156,377 (GRCm39) Y84N probably damaging Het
Syne2 A T 12: 76,144,731 (GRCm39) Q6299L probably damaging Het
Tmem63b T A 17: 45,972,839 (GRCm39) M652L probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnk1 A G 11: 69,746,007 (GRCm39) V306A probably damaging Het
Tnnc2 T A 2: 164,619,404 (GRCm39) I147F probably damaging Het
Tnni3k C T 3: 154,760,981 (GRCm39) probably benign Het
Togaram2 T A 17: 72,036,243 (GRCm39) V911D probably damaging Het
Tyw3 T C 3: 154,293,132 (GRCm39) N181S probably damaging Het
Unc79 T A 12: 103,039,051 (GRCm39) S682T probably benign Het
Vps13d A G 4: 144,841,348 (GRCm39) L2634S probably benign Het
Wasl G T 6: 24,633,892 (GRCm39) A124E probably damaging Het
Zfp287 T C 11: 62,605,743 (GRCm39) H388R probably damaging Het
Zfp335 T C 2: 164,749,612 (GRCm39) T262A probably damaging Het
Zfp457 C G 13: 67,441,211 (GRCm39) G359R probably benign Het
Zfp536 T A 7: 37,267,874 (GRCm39) E514V probably damaging Het
Zfp872 T A 9: 22,111,469 (GRCm39) I316N probably damaging 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
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
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'- CCTGACACATGCCAGAGGATACAAG -3'
(R):5'- ATCTCCTAGAGCTGTTCCCTAGTGC -3'

Sequencing Primer
(F):5'- ggctgagagagagcttagtg -3'
(R):5'- GCTAGTGCCCACCCGATAAG -3'
Posted On 2013-05-09