Mutagenetix > Incidental Mutation

Incidental Mutation 'R7311:Akt1'

567612

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

045367-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R7311 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112620260-112641266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 112623587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 291 (T291K)

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: T291K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001780
Gene: ENSMUSG00000001729
AA Change: T291K

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000128300

SMART Domains

Protein: ENSMUSP00000122222
Gene: ENSMUSG00000001729

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
PH	6	110	2.41e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144550

SMART Domains

Protein: ENSMUSP00000123689
Gene: ENSMUSG00000001729

Domain	Start	End	E-Value	Type
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: 99.7%
20x: 99.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	G	12: 110,635,184 (GRCm39)	V118A	probably benign	Het
Accsl	C	T	2: 93,696,160 (GRCm39)	G146D	possibly damaging	Het
Acsm1	A	T	7: 119,237,305 (GRCm39)	H206L	probably damaging	Het
Acta2	A	G	19: 34,219,186 (GRCm39)	Y339H	probably damaging	Het
Adcy2	T	C	13: 68,779,073 (GRCm39)	D989G	probably damaging	Het
Ahnak	G	A	19: 8,979,507 (GRCm39)	A264T	probably benign	Het
Ahnak	A	G	19: 8,987,191 (GRCm39)	D2825G	possibly damaging	Het
Arhgap24	A	G	5: 103,040,551 (GRCm39)	D589G	probably damaging	Het
B4galnt3	G	A	6: 120,192,396 (GRCm39)	Q447*	probably null	Het
BC024063	C	T	10: 81,945,993 (GRCm39)	R538C	possibly damaging	Het
Bod1l	A	G	5: 41,951,676 (GRCm39)	S2912P	possibly damaging	Het
Bysl	A	G	17: 47,912,710 (GRCm39)	V360A	possibly damaging	Het
C1qb	A	G	4: 136,607,877 (GRCm39)	V162A	possibly damaging	Het
Ccdc57	G	A	11: 120,764,567 (GRCm39)	P736L	probably benign	Het
Cep290	T	A	10: 100,373,580 (GRCm39)	F1287I	probably damaging	Het
Cntn1	T	C	15: 92,130,156 (GRCm39)		probably null	Het
Col6a3	C	T	1: 90,750,013 (GRCm39)	G274R	probably damaging	Het
Cplane1	G	T	15: 8,210,399 (GRCm39)	V291F	probably damaging	Het
Cyb5r4	T	C	9: 86,937,835 (GRCm39)	C285R	probably damaging	Het
Cyp4f39	G	A	17: 32,708,629 (GRCm39)	C392Y	probably damaging	Het
Dcun1d3	A	T	7: 119,458,734 (GRCm39)	D100E	probably damaging	Het
Dhx58	A	T	11: 100,588,997 (GRCm39)	D516E	probably benign	Het
Dock5	T	A	14: 68,065,951 (GRCm39)	I351F	probably benign	Het
Elmod2	A	C	8: 84,046,041 (GRCm39)		probably null	Het
Endov	G	A	11: 119,398,077 (GRCm39)	A281T	probably benign	Het
Epyc	A	G	10: 97,485,562 (GRCm39)	M1V	probably null	Het
Espnl	T	A	1: 91,251,290 (GRCm39)	H128Q	probably damaging	Het
Fam20a	A	T	11: 109,565,454 (GRCm39)	C452*	probably null	Het
Fam241b	A	G	10: 61,944,733 (GRCm39)	V88A	probably damaging	Het
Fbxl9	A	G	8: 106,042,299 (GRCm39)		probably benign	Het
Fgd3	A	T	13: 49,450,166 (GRCm39)	S28T	possibly damaging	Het
Fmn1	C	A	2: 113,356,025 (GRCm39)	P920Q	unknown	Het
Gpr139	G	C	7: 118,744,089 (GRCm39)	D165E	probably benign	Het
Hoxb1	A	G	11: 96,257,927 (GRCm39)	T286A	possibly damaging	Het
Ifi204	T	A	1: 173,587,134 (GRCm39)	E174D	probably benign	Het
Igf2bp2	A	G	16: 21,880,632 (GRCm39)	I555T	possibly damaging	Het
Ighv1-85	A	G	12: 115,963,799 (GRCm39)	I67T	probably damaging	Het
Ihh	G	C	1: 74,990,306 (GRCm39)	P23R	unknown	Het
Irx2	T	C	13: 72,779,396 (GRCm39)	S227P	probably damaging	Het
Itga4	A	G	2: 79,086,526 (GRCm39)	I68V	probably benign	Het
Jsrp1	T	A	10: 80,647,906 (GRCm39)	T51S	probably benign	Het
Khdc4	T	C	3: 88,619,002 (GRCm39)	S569P	probably damaging	Het
Kifc2	G	T	15: 76,547,010 (GRCm39)	G306V	probably damaging	Het
L3mbtl2	T	A	15: 81,551,588 (GRCm39)	S85T	possibly damaging	Het
Lama1	T	C	17: 68,074,380 (GRCm39)	S944P		Het
Lama4	T	A	10: 38,902,631 (GRCm39)	C202S	probably damaging	Het
Morc3	G	A	16: 93,646,061 (GRCm39)	D218N	probably damaging	Het
Mrtfb	T	A	16: 13,223,718 (GRCm39)	Y866*	probably null	Het
Myorg	A	G	4: 41,498,577 (GRCm39)	I351T	probably damaging	Het
N4bp2l1	G	A	5: 150,496,389 (GRCm39)	T179I	probably damaging	Het
Narf	A	G	11: 121,139,976 (GRCm39)	E270G	probably benign	Het
Nsd2	A	G	5: 34,049,380 (GRCm39)	D1205G	probably damaging	Het
Or10x1	T	C	1: 174,196,759 (GRCm39)	V92A	probably benign	Het
Or5an11	T	C	19: 12,246,068 (GRCm39)	V158A	probably benign	Het
Parl	T	C	16: 20,106,625 (GRCm39)	T195A	probably benign	Het
Phrf1	A	G	7: 140,820,846 (GRCm39)	I158V	unknown	Het
Phtf1	T	C	3: 103,904,980 (GRCm39)	F543L	possibly damaging	Het
Plod2	T	A	9: 92,466,611 (GRCm39)	D190E	probably damaging	Het
Polr1a	G	T	6: 71,927,863 (GRCm39)	K871N	possibly damaging	Het
Ppp2r5a	A	T	1: 191,089,998 (GRCm39)	I252K	probably damaging	Het
Ptgir	T	A	7: 16,640,973 (GRCm39)	D88E	probably damaging	Het
Raly	T	C	2: 154,699,340 (GRCm39)	V48A	probably damaging	Het
Ripor1	T	A	8: 106,344,447 (GRCm39)	L527*	probably null	Het
Rnf213	T	C	11: 119,307,373 (GRCm39)	S678P		Het
Rpf1	T	A	3: 146,212,918 (GRCm39)	Q306L	probably benign	Het
Rpl14	T	C	9: 120,403,171 (GRCm39)	I122T	probably damaging	Het
Scn9a	C	A	2: 66,314,748 (GRCm39)	A1657S	possibly damaging	Het
Serpinb10	A	G	1: 107,474,477 (GRCm39)	Y213C	probably damaging	Het
Slc25a23	A	G	17: 57,359,827 (GRCm39)	L308P	probably damaging	Het
Smg9	T	A	7: 24,120,058 (GRCm39)	M387K	probably benign	Het
Socs3	G	A	11: 117,858,614 (GRCm39)	P148L	probably benign	Het
Susd3	A	G	13: 49,401,906 (GRCm39)	L14P	probably benign	Het
Syt14	T	A	1: 192,662,858 (GRCm39)	M80L	probably benign	Het
Tmprss2	T	A	16: 97,369,616 (GRCm39)	Y386F	possibly damaging	Het
Tmx3	T	A	18: 90,558,195 (GRCm39)	S416T	probably benign	Het
Treh	A	G	9: 44,597,245 (GRCm39)	T555A	probably benign	Het
Ttc5	T	G	14: 51,003,400 (GRCm39)	Q428P	probably damaging	Het
Vmn2r73	A	G	7: 85,521,192 (GRCm39)	S259P	possibly damaging	Het
Vps4b	A	T	1: 106,719,434 (GRCm39)	V38E	probably damaging	Het
Wdr83	C	A	8: 85,802,890 (GRCm39)	R177L	probably benign	Het
Zfp780b	A	G	7: 27,662,588 (GRCm39)	F656L	possibly damaging	Het
Zfp995	A	T	17: 22,099,641 (GRCm39)	F198I	probably benign	Het
Zswim8	A	T	14: 20,771,552 (GRCm39)	Y1495F	probably damaging	Het

Other mutations in Akt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7045:Akt1	UTSW	12	112,628,735 (GRCm39)	nonsense	probably null
R7129:Akt1	UTSW	12	112,626,083 (GRCm39)	missense	probably benign	0.22
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'- ATCTCGTACATGACCACGCC -3'
(R):5'- TTGTGTCTGCCCTGGACTAC -3'

Sequencing Primer
(F):5'- ACGGCCGTAGTCGTTGTC -3'
(R):5'- TGGACTACTTGCACTCCGAGAAG -3'

Posted On

2019-06-26