Mutagenetix > Incidental Mutation

Incidental Mutation 'R6723:Akt3'

529668

Institutional Source

Beutler Lab

Gene Symbol

Akt3

Ensembl Gene

ENSMUSG00000019699

Gene Name

thymoma viral proto-oncogene 3

Synonyms

Nmf350, PKB gamma, D930002M15Rik

MMRRC Submission

044841-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

R6723 (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: 99.6%
10x: 98.3%
20x: 95.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	A	G	12: 112,745,228 (GRCm39)	S740P	probably damaging	Het
Bcl11a	C	A	11: 24,113,646 (GRCm39)	P330T	probably damaging	Het
Cyp2d12	A	T	15: 82,441,085 (GRCm39)	I124F	probably benign	Het
Dhdds	T	C	4: 133,721,576 (GRCm39)	T74A	probably damaging	Het
Dio3	G	A	12: 110,245,991 (GRCm39)	C109Y	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock7	A	G	4: 98,892,153 (GRCm39)	V811A	possibly damaging	Het
Efcab3	A	T	11: 105,007,906 (GRCm39)	T329S	possibly damaging	Het
Esp1	A	T	17: 41,039,747 (GRCm39)	I11L	probably benign	Het
Fam13b	A	T	18: 34,631,079 (GRCm39)	H33Q	possibly damaging	Het
Fam13c	G	A	10: 70,390,355 (GRCm39)	D539N	probably damaging	Het
Fgd5	A	G	6: 91,965,011 (GRCm39)	T257A	probably benign	Het
Gm5134	A	G	10: 75,844,453 (GRCm39)	D603G	probably benign	Het
Gtpbp2	T	C	17: 46,479,202 (GRCm39)	V588A	probably benign	Het
Ift140	A	G	17: 25,252,090 (GRCm39)	I312M	probably benign	Het
Inpp5j	T	C	11: 3,450,640 (GRCm39)	N571S	probably damaging	Het
Iqgap1	T	G	7: 80,373,570 (GRCm39)	D1473A	probably benign	Het
Ivl	T	G	3: 92,478,694 (GRCm39)	K457T	unknown	Het
Kdm3b	T	C	18: 34,926,058 (GRCm39)	I66T	probably damaging	Het
Kif21a	A	T	15: 90,824,649 (GRCm39)	M1430K	probably damaging	Het
Klhl25	T	A	7: 75,515,739 (GRCm39)	L215Q	possibly damaging	Het
Lim2	T	A	7: 43,085,099 (GRCm39)	M163K	probably benign	Het
Lrig1	T	C	6: 94,603,386 (GRCm39)	D254G	probably damaging	Het
Mff	A	G	1: 82,729,387 (GRCm39)	I122V	possibly damaging	Het
Mrpl15	A	C	1: 4,852,789 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,750,258 (GRCm39)	Y1199C	possibly damaging	Het
Nlrp3	G	A	11: 59,456,018 (GRCm39)	C938Y	probably damaging	Het
Notch1	T	C	2: 26,368,118 (GRCm39)	N623D	probably damaging	Het
Obscn	T	G	11: 58,945,824 (GRCm39)	E4129A	probably damaging	Het
Or10a49	A	T	7: 108,467,795 (GRCm39)	C189S	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or4d11	A	G	19: 12,013,639 (GRCm39)	S156P	probably damaging	Het
Or5k1	T	C	16: 58,617,795 (GRCm39)	K138R	probably benign	Het
Or6c65	A	T	10: 129,604,284 (GRCm39)	L306F	probably benign	Het
Parm1	C	T	5: 91,770,856 (GRCm39)	P291S	probably damaging	Het
Pcsk1	T	A	13: 75,241,188 (GRCm39)		probably null	Het
Pgap6	C	A	17: 26,339,610 (GRCm39)	T616N	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Piezo1	T	G	8: 123,234,366 (GRCm39)	Q93H	probably benign	Het
Pkd2l2	A	T	18: 34,571,210 (GRCm39)	Y575F	probably damaging	Het
Plekhn1	A	C	4: 156,309,026 (GRCm39)	F258C	probably damaging	Het
Pole	C	T	5: 110,471,482 (GRCm39)	H1409Y	probably benign	Het
Rae1	T	C	2: 172,854,041 (GRCm39)	I273T	probably damaging	Het
Rag1	A	G	2: 101,473,990 (GRCm39)	V384A	probably damaging	Het
Rnaseh1	T	C	12: 28,699,761 (GRCm39)	L25P	probably damaging	Het
Serpinb12	A	G	1: 106,876,888 (GRCm39)	H68R	probably benign	Het
Sh3tc2	A	T	18: 62,111,025 (GRCm39)	I294F	probably damaging	Het
Sirpb1b	A	C	3: 15,613,858 (GRCm39)	L75V	possibly damaging	Het
Slc12a6	A	T	2: 112,168,287 (GRCm39)	T277S	probably damaging	Het
Slc7a12	A	T	3: 14,564,257 (GRCm39)	E43D	probably benign	Het
Spata31d1c	T	A	13: 65,183,758 (GRCm39)	D433E	probably benign	Het
Spata31h1	T	C	10: 82,125,657 (GRCm39)	Y2451C	possibly damaging	Het
Tbl2	A	T	5: 135,188,130 (GRCm39)	Y308F	probably damaging	Het
Tfec	T	C	6: 16,835,301 (GRCm39)	Y159C	probably damaging	Het
Top1mt	G	T	15: 75,539,282 (GRCm39)	T371K	probably benign	Het
Trim24	T	C	6: 37,928,403 (GRCm39)	V541A	probably benign	Het
Ttc16	T	C	2: 32,658,049 (GRCm39)	Y456C	possibly damaging	Het
Ttn	G	A	2: 76,600,441 (GRCm39)	R17204*	probably null	Het
Ugt1a6b	T	C	1: 88,035,439 (GRCm39)	V259A	probably benign	Het
Unc5a	T	C	13: 55,143,702 (GRCm39)	W129R	probably benign	Het
Vmn1r63	T	A	7: 5,805,948 (GRCm39)	H228L	probably damaging	Het
Whamm	G	T	7: 81,245,868 (GRCm39)	V775F	probably damaging	Het
Zfc3h1	T	A	10: 115,256,638 (GRCm39)	I1536N	probably benign	Het
Zfp1	T	C	8: 112,396,971 (GRCm39)	S317P	probably damaging	Het
Zfp58	T	C	13: 67,642,192 (GRCm39)	T52A	probably damaging	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
R6752:Akt3	UTSW	1	176,877,756 (GRCm39)	nonsense	probably null
R6753:Akt3	UTSW	1	176,877,756 (GRCm39)	nonsense	probably null
R6755: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'- ATGGACCATCATTGAAGCTTACC -3'
(R):5'- AGCTCCATAGGTTGTCATTGG -3'

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

Posted On

2018-08-01