Mutagenetix > Incidental Mutations

Incidental Mutation 'R1452:Akt3'

161043

Institutional Source

Beutler Lab

Gene Symbol

Akt3

Ensembl Gene

ENSMUSG00000019699

Gene Name

thymoma viral proto-oncogene 3

Synonyms

D930002M15Rik, Nmf350, PKB gamma

MMRRC Submission

039507-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.607) question?

Stock #

R1452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

177020073-177258203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 177131067 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 26 (Y26N)

Ref Sequence

ENSEMBL: ENSMUSP00000106790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019843] [ENSMUST00000111159] [ENSMUST00000111160]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019843
AA Change: Y26N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000019843
Gene: ENSMUSG00000019699
AA Change: Y26N

Domain	Start	End	E-Value	Type
PH	6	109	4.81e-16	SMART
S_TKc	148	405	3.53e-106	SMART
S_TK_X	406	467	6.37e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111159
AA Change: Y26N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106789
Gene: ENSMUSG00000019699
AA Change: Y26N

Domain	Start	End	E-Value	Type
PH	6	109	4.81e-16	SMART
S_TKc	148	405	3.53e-106	SMART
S_TK_X	406	475	2.61e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111160
AA Change: Y26N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106790
Gene: ENSMUSG00000019699
AA Change: Y26N

Domain	Start	End	E-Value	Type
PH	6	109	4.81e-16	SMART
S_TKc	148	405	3.53e-106	SMART
S_TK_X	406	475	2.61e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194121

Meta Mutation Damage Score

0.9741

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.5%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit a 20% decrease in brain size and have smaller and fewer cells in the brain. Mice heterozygous for an ENU-induced mutation exhibit increased seizures (sporadic and induced) and increased brain weight and size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,152,939	Y415C	probably damaging	Het
2810474O19Rik	A	T	6: 149,326,632	K392I	probably damaging	Het
A2m	A	G	6: 121,678,056	I1446M	probably benign	Het
Acaca	T	A	11: 84,295,059		probably benign	Het
Adgre4	A	T	17: 55,784,996	E85D	probably benign	Het
Arl15	T	C	13: 113,967,783	V132A	probably benign	Het
Atp6v1h	A	G	1: 5,098,137		probably benign	Het
Atrip	T	A	9: 109,072,659	D110V	probably damaging	Het
Bahcc1	T	G	11: 120,282,239		probably benign	Het
Cd53	C	T	3: 106,768,959	G31S	probably damaging	Het
Cdk14	T	C	5: 4,888,927	S404G	possibly damaging	Het
Cers3	A	T	7: 66,783,404	K156N	probably damaging	Het
Colgalt2	C	A	1: 152,504,153	L448M	probably damaging	Het
Cox15	G	T	19: 43,746,905	T141K	probably damaging	Het
Csnk2a2	C	T	8: 95,457,375		probably benign	Het
Cyp2b10	A	T	7: 25,925,388		probably benign	Het
Cyp2c55	A	G	19: 39,011,090	Y80C	probably damaging	Het
Depdc1a	A	G	3: 159,526,691	Y693C	possibly damaging	Het
Des	T	C	1: 75,363,477	S343P	probably damaging	Het
Dync1i2	T	C	2: 71,249,863		probably benign	Het
Eif3m	T	A	2: 105,006,777	Q199L	probably damaging	Het
Emsy	G	T	7: 98,600,674	T802K	probably damaging	Het
Endov	A	G	11: 119,491,825	T33A	probably damaging	Het
Epb41l5	G	A	1: 119,549,166	T728I	probably damaging	Het
Fbxo39	A	G	11: 72,318,402	I363V	probably benign	Het
Gm8674	C	T	13: 49,900,517		noncoding transcript	Het
Gm9733	G	T	3: 15,332,152	T24K	unknown	Het
Il6st	T	A	13: 112,481,464	N137K	possibly damaging	Het
Inf2	A	G	12: 112,601,344	N136S	probably damaging	Het
Iqub	A	T	6: 24,491,559	I376N	probably benign	Het
Kansl3	A	G	1: 36,354,793		probably benign	Het
Kbtbd2	A	T	6: 56,781,924	H71Q	probably damaging	Het
Lgals8	G	T	13: 12,453,327	Y140*	probably null	Het
Macf1	T	A	4: 123,493,998	I924L	probably benign	Het
Mcoln2	A	T	3: 146,181,814	T329S	possibly damaging	Het
Mex3d	A	T	10: 80,381,520	L621Q	probably damaging	Het
Mut	A	G	17: 40,937,468		probably benign	Het
Ncor1	T	C	11: 62,334,631	H1038R	probably damaging	Het
Neb	A	G	2: 52,271,297		probably null	Het
Ngrn	A	G	7: 80,264,772	T224A	probably benign	Het
Nin	G	A	12: 70,017,650	R2019*	probably null	Het
Nphp4	C	G	4: 152,547,018	Q792E	probably damaging	Het
Olfr1047	T	A	2: 86,228,455	N172I	probably damaging	Het
Olfr1166	C	T	2: 88,124,311	V225I	probably benign	Het
Olfr140	C	T	2: 90,051,671	V218I	possibly damaging	Het
Olfr373	C	T	8: 72,100,176	Q139*	probably null	Het
Olfr70	C	T	4: 43,696,823	V117M	probably benign	Het
Pde4dip	C	A	3: 97,724,102	V1164L	probably damaging	Het
Plppr1	A	G	4: 49,301,067		probably benign	Het
Pole2	G	A	12: 69,207,929	L381F	probably benign	Het
Ppp2r5e	A	G	12: 75,469,536		probably benign	Het
Prim2	T	A	1: 33,630,404	E163D	probably benign	Het
Prrc2b	A	T	2: 32,194,985	D296V	probably damaging	Het
Pter	A	G	2: 12,978,621		probably benign	Het
Robo2	C	A	16: 73,961,910	V662L	probably damaging	Het
Slco1b2	A	T	6: 141,672,200	I424F	probably benign	Het
Snx29	A	T	16: 11,631,471	H260L	probably damaging	Het
Stil	A	G	4: 115,039,195	N959S	probably benign	Het
Taar8c	A	T	10: 24,101,610	D101E	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpc6	G	A	9: 8,653,147	M573I	probably damaging	Het
Tsr1	A	T	11: 74,899,599	D171V	probably benign	Het
Ube4b	T	C	4: 149,371,169	T348A	probably damaging	Het
Vmn1r85	A	T	7: 13,084,881	I112N	probably damaging	Het
Vps36	A	G	8: 22,218,210		probably null	Het
Wdfy3	G	A	5: 101,937,738	A630V	possibly damaging	Het
Wdsub1	A	T	2: 59,876,800	D14E	probably null	Het
Ylpm1	T	C	12: 85,030,383	I1294T	possibly damaging	Het
Zdhhc17	A	G	10: 110,955,075	F378L	probably benign	Het

Other mutations in Akt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Akt3	APN	1	177130967	splice site	probably benign
IGL02348:Akt3	APN	1	177059386	missense	probably damaging	0.99
IGL02394:Akt3	APN	1	177059419	missense	probably damaging	1.00
IGL03005:Akt3	APN	1	177067227	missense	probably damaging	1.00
R0114:Akt3	UTSW	1	177067251	missense	probably damaging	1.00
R1403:Akt3	UTSW	1	177131110	splice site	probably benign
R1495:Akt3	UTSW	1	177103042	missense	probably benign
R1961:Akt3	UTSW	1	177096995	missense	probably damaging	0.97
R2062:Akt3	UTSW	1	177102985	missense	possibly damaging	0.93
R2064:Akt3	UTSW	1	177102985	missense	possibly damaging	0.93
R2066:Akt3	UTSW	1	177102985	missense	possibly damaging	0.93
R2068:Akt3	UTSW	1	177102985	missense	possibly damaging	0.93
R4155:Akt3	UTSW	1	177096977	missense	possibly damaging	0.92
R4937:Akt3	UTSW	1	177050127	missense	possibly damaging	0.89
R5097:Akt3	UTSW	1	177248688	missense	probably benign	0.01
R5414:Akt3	UTSW	1	177050251	missense	probably damaging	0.98
R6336:Akt3	UTSW	1	177031712	missense	probably damaging	1.00
R6723:Akt3	UTSW	1	177050190	nonsense	probably null
R6752:Akt3	UTSW	1	177050190	nonsense	probably null
R6753:Akt3	UTSW	1	177050190	nonsense	probably null
R6755:Akt3	UTSW	1	177050190	nonsense	probably null
R6765:Akt3	UTSW	1	177050190	nonsense	probably null
R6766:Akt3	UTSW	1	177050190	nonsense	probably null
R6767:Akt3	UTSW	1	177050190	nonsense	probably null
R6782:Akt3	UTSW	1	177050190	nonsense	probably null
R6787:Akt3	UTSW	1	177050190	nonsense	probably null
R6847:Akt3	UTSW	1	177031659	missense	probably damaging	1.00
R7525:Akt3	UTSW	1	177020107	nonsense	probably null
R7535:Akt3	UTSW	1	177097034	missense	probably damaging	1.00
R8000:Akt3	UTSW	1	177050197	missense	probably damaging	1.00
R8326:Akt3	UTSW	1	177050045	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ATGCTGGTTTCTCAGATCCATACACAC -3'
(R):5'- TCTTTCCCCTTGTTTGGAAAACAAAAGC -3'

Sequencing Primer
(F):5'- TTTCTCAGATCCATACACACACCTG -3'
(R):5'- GGAACATGTATTTCACACTCTGC -3'

Posted On

2014-03-14