Mutagenetix > Incidental Mutation

Incidental Mutation 'R6755:Akt3'

530984

Institutional Source

Beutler Lab

Gene Symbol

Akt3

Ensembl Gene

ENSMUSG00000019699

Gene Name

thymoma viral proto-oncogene 3

Synonyms

Nmf350, PKB gamma, D930002M15Rik

MMRRC Submission

044871-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.593) question?

Stock #

R6755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

176847639-177085769 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 176877756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 337 (Y337*)

Ref Sequence

ENSEMBL: ENSMUSP00000106790 (fasta)

Gene Model

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

AlphaFold

Q9WUA6

Predicted Effect

probably null
Transcript: ENSMUST00000019843
AA Change: Y337*

SMART Domains

Protein: ENSMUSP00000019843
Gene: ENSMUSG00000019699
AA Change: Y337*

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

probably null
Transcript: ENSMUST00000111159
AA Change: Y337*

SMART Domains

Protein: ENSMUSP00000106789
Gene: ENSMUSG00000019699
AA Change: Y337*

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

probably null
Transcript: ENSMUST00000111160
AA Change: Y337*

SMART Domains

Protein: ENSMUSP00000106790
Gene: ENSMUSG00000019699
AA Change: Y337*

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: ENSMUST00000193760

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,475,994 (GRCm39)	T1101M	probably benign	Het
4930433I11Rik	T	C	7: 40,643,734 (GRCm39)	S468P	probably damaging	Het
Adam33	A	G	2: 130,895,069 (GRCm39)	V637A	probably damaging	Het
Adcy5	G	A	16: 35,124,004 (GRCm39)	V1228M	possibly damaging	Het
Ahi1	G	T	10: 20,893,812 (GRCm39)	V848F	probably damaging	Het
B4galt6	T	C	18: 20,822,386 (GRCm39)	E264G	probably benign	Het
Bpifb4	A	G	2: 153,799,658 (GRCm39)	T556A	probably damaging	Het
Bptf	A	T	11: 106,938,082 (GRCm39)	S64T	probably benign	Het
C3ar1	A	G	6: 122,826,817 (GRCm39)	S467P	probably benign	Het
Cables1	G	T	18: 12,072,882 (GRCm39)	S479I	probably null	Het
Cbl	T	C	9: 44,084,671 (GRCm39)	I155V	probably damaging	Het
Cdh16	T	C	8: 105,345,880 (GRCm39)	D297G	probably damaging	Het
Cdk8	T	A	5: 146,205,126 (GRCm39)	H102Q	probably damaging	Het
Cpn2	A	T	16: 30,079,149 (GRCm39)	L184Q	probably damaging	Het
Ctso	T	A	3: 81,849,609 (GRCm39)	H109Q	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drc1	A	G	5: 30,512,490 (GRCm39)	E299G	probably damaging	Het
Elp6	A	G	9: 110,144,893 (GRCm39)	E150G	possibly damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fbn2	A	G	18: 58,246,405 (GRCm39)	L499S	possibly damaging	Het
Fgf10	C	A	13: 118,925,821 (GRCm39)	A200D	probably damaging	Het
Fhad1	T	C	4: 141,691,915 (GRCm39)	E407G	probably damaging	Het
Hif1an	T	C	19: 44,556,891 (GRCm39)	V232A	probably damaging	Het
Ift172	T	A	5: 31,418,342 (GRCm39)	K1214*	probably null	Het
Il20ra	T	C	10: 19,626,542 (GRCm39)	Y189H	probably benign	Het
Isg20l2	T	A	3: 87,838,996 (GRCm39)	I69N	probably benign	Het
Kif11	A	G	19: 37,398,199 (GRCm39)	D675G	probably benign	Het
Klhdc7a	T	A	4: 139,693,786 (GRCm39)	D387V	possibly damaging	Het
Lrrc4	T	C	6: 28,831,292 (GRCm39)	N108D	probably damaging	Het
Ltbp2	T	A	12: 84,841,847 (GRCm39)	E944V	probably damaging	Het
Magi1	C	T	6: 93,685,158 (GRCm39)	S740N	probably damaging	Het
Med26	A	G	8: 73,249,677 (GRCm39)	I474T	probably damaging	Het
Mgst1	T	A	6: 138,124,770 (GRCm39)	M68K	probably damaging	Het
Myh7	G	A	14: 55,229,770 (GRCm39)	A91V	possibly damaging	Het
Nhlrc2	G	A	19: 56,580,216 (GRCm39)	V450I	probably benign	Het
Nup160	T	G	2: 90,530,800 (GRCm39)	F486C	probably damaging	Het
Nup50l	T	C	6: 96,141,953 (GRCm39)	T364A	probably benign	Het
Obscn	A	T	11: 58,994,152 (GRCm39)	Y1602N	probably damaging	Het
Or52ae9	T	A	7: 103,389,707 (GRCm39)	T247S	probably damaging	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otogl	A	T	10: 107,689,164 (GRCm39)	Y955*	probably null	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pianp	T	C	6: 124,976,347 (GRCm39)	V52A	probably benign	Het
Plekhh2	T	C	17: 84,899,013 (GRCm39)	Y997H	probably damaging	Het
Plekhm1	G	T	11: 103,278,069 (GRCm39)	S342R	possibly damaging	Het
Poglut2	C	T	1: 44,149,894 (GRCm39)		probably null	Het
Ppp4r4	T	A	12: 103,551,996 (GRCm39)	V81E	probably damaging	Het
Pramel52-ps	A	G	5: 94,529,268 (GRCm39)	T13A	probably benign	Het
Ptafr	A	G	4: 132,306,657 (GRCm39)	T16A	probably benign	Het
Ptpn23	A	T	9: 110,218,855 (GRCm39)	L445Q	probably damaging	Het
Rasa1	A	T	13: 85,374,717 (GRCm39)	F751L	possibly damaging	Het
Sap18	A	C	14: 58,039,474 (GRCm39)	D153A	probably damaging	Het
Slc38a11	C	T	2: 65,194,235 (GRCm39)	G10D	probably benign	Het
Snx32	T	C	19: 5,560,372 (GRCm39)	N10D	probably benign	Het
Sox6	T	C	7: 115,261,677 (GRCm39)	T180A	probably damaging	Het
Srrt	T	C	5: 137,301,192 (GRCm39)	K78R	probably damaging	Het
Syce3	T	C	15: 89,281,567 (GRCm39)	D24G	probably damaging	Het
Taok3	T	A	5: 117,344,732 (GRCm39)	I153N	probably damaging	Het
Tesk1	A	G	4: 43,445,991 (GRCm39)	Q308R	probably benign	Het
Tm7sf3	A	T	6: 146,511,471 (GRCm39)		probably null	Het
Tmbim6	T	C	15: 99,300,034 (GRCm39)	V50A	probably benign	Het
Tmem107	T	C	11: 68,961,837 (GRCm39)	V22A	probably damaging	Het
Ttc12	T	C	9: 49,364,646 (GRCm39)	I377V	probably benign	Het
Ufl1	T	A	4: 25,262,316 (GRCm39)	N310I	probably damaging	Het
Ush2a	C	A	1: 188,175,416 (GRCm39)	N1171K	possibly damaging	Het
Utrn	A	T	10: 12,574,831 (GRCm39)	V1032E	probably benign	Het

Other mutations in Akt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Akt3	APN	1	176,958,533 (GRCm39)	splice site	probably benign
IGL02348:Akt3	APN	1	176,886,952 (GRCm39)	missense	probably damaging	0.99
IGL02394:Akt3	APN	1	176,886,985 (GRCm39)	missense	probably damaging	1.00
IGL03005:Akt3	APN	1	176,894,793 (GRCm39)	missense	probably damaging	1.00
R0114:Akt3	UTSW	1	176,894,817 (GRCm39)	missense	probably damaging	1.00
R1403:Akt3	UTSW	1	176,958,676 (GRCm39)	splice site	probably benign
R1452:Akt3	UTSW	1	176,958,633 (GRCm39)	missense	possibly damaging	0.93
R1495:Akt3	UTSW	1	176,930,608 (GRCm39)	missense	probably benign
R1961:Akt3	UTSW	1	176,924,561 (GRCm39)	missense	probably damaging	0.97
R2062:Akt3	UTSW	1	176,930,551 (GRCm39)	missense	possibly damaging	0.93
R2064:Akt3	UTSW	1	176,930,551 (GRCm39)	missense	possibly damaging	0.93
R2066:Akt3	UTSW	1	176,930,551 (GRCm39)	missense	possibly damaging	0.93
R2068:Akt3	UTSW	1	176,930,551 (GRCm39)	missense	possibly damaging	0.93
R4155:Akt3	UTSW	1	176,924,543 (GRCm39)	missense	possibly damaging	0.92
R4937:Akt3	UTSW	1	176,877,693 (GRCm39)	missense	possibly damaging	0.89
R5097:Akt3	UTSW	1	177,076,254 (GRCm39)	missense	probably benign	0.01
R5414:Akt3	UTSW	1	176,877,817 (GRCm39)	missense	probably damaging	0.98
R6336:Akt3	UTSW	1	176,859,278 (GRCm39)	missense	probably damaging	1.00
R6723:Akt3	UTSW	1	176,877,756 (GRCm39)	nonsense	probably null
R6752:Akt3	UTSW	1	176,877,756 (GRCm39)	nonsense	probably null
R6753:Akt3	UTSW	1	176,877,756 (GRCm39)	nonsense	probably null
R6765:Akt3	UTSW	1	176,877,756 (GRCm39)	nonsense	probably null
R6766:Akt3	UTSW	1	176,877,756 (GRCm39)	nonsense	probably null
R6767:Akt3	UTSW	1	176,877,756 (GRCm39)	nonsense	probably null
R6782:Akt3	UTSW	1	176,877,756 (GRCm39)	nonsense	probably null
R6787:Akt3	UTSW	1	176,877,756 (GRCm39)	nonsense	probably null
R6847:Akt3	UTSW	1	176,859,225 (GRCm39)	missense	probably damaging	1.00
R7525:Akt3	UTSW	1	176,847,673 (GRCm39)	nonsense	probably null
R7535:Akt3	UTSW	1	176,924,600 (GRCm39)	missense	probably damaging	1.00
R8000:Akt3	UTSW	1	176,877,763 (GRCm39)	missense	probably damaging	1.00
R8326:Akt3	UTSW	1	176,877,611 (GRCm39)	missense	possibly damaging	0.95
R8947:Akt3	UTSW	1	176,958,645 (GRCm39)	missense	probably damaging	1.00
R9047:Akt3	UTSW	1	176,886,955 (GRCm39)	missense	probably damaging	0.98
R9474:Akt3	UTSW	1	176,852,952 (GRCm39)	missense	probably damaging	1.00
R9564:Akt3	UTSW	1	176,907,769 (GRCm39)	missense	possibly damaging	0.47
R9680:Akt3	UTSW	1	176,958,639 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GACCATCATTGAAGCTTACCG -3'
(R):5'- CAGCTCCATAGGTTGTCATTGG -3'

Sequencing Primer
(F):5'- GAAGCTTACCGTTTATTTGGATCC -3'
(R):5'- GGCTAGTCTACATAGCAAGTTCCAG -3'

Posted On

2018-08-01