Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Akt1'

685052

Institutional Source

Beutler Lab

Gene Symbol

Akt1

Ensembl Gene

ENSMUSG00000001729

Gene Name

thymoma viral proto-oncogene 1

Synonyms

Akt, PKB/Akt, PKBalpha, PKB

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R9002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112620260-112641266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112626048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 75 (I75V)

Ref Sequence

ENSEMBL: ENSMUSP00000001780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001780] [ENSMUST00000128300] [ENSMUST00000130342] [ENSMUST00000144550]

AlphaFold

P31750

Predicted Effect

probably benign
Transcript: ENSMUST00000001780
AA Change: I75V

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000001780
Gene: ENSMUSG00000001729
AA Change: I75V

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
AA Change: I75V

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122222
Gene: ENSMUSG00000001729
AA Change: I75V

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
AA Change: I75V

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118190
Gene: ENSMUSG00000001729
AA Change: I75V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144550
AA Change: I75V

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123689
Gene: ENSMUSG00000001729
AA Change: I75V

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: 100.0%
10x: 99.7%
20x: 99.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,241,926 (GRCm39)	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,843,456 (GRCm39)	D985N	probably benign	Het
Ak5	A	T	3: 152,359,091 (GRCm39)	M207K	probably damaging	Het
Ank	T	A	15: 27,544,413 (GRCm39)	L58*	probably null	Het
Ap1g1	A	C	8: 110,581,738 (GRCm39)	T666P	probably benign	Het
Ap3b2	A	T	7: 81,117,192 (GRCm39)	S615T	probably benign	Het
Ash1l	G	T	3: 88,888,715 (GRCm39)	R198L	probably benign	Het
Axl	A	T	7: 25,478,103 (GRCm39)	C199S	probably damaging	Het
C1d	T	C	11: 17,212,787 (GRCm39)	L44S	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Col4a4	A	G	1: 82,449,032 (GRCm39)	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,832,061 (GRCm39)	I223N	probably damaging	Het
Efcab3	A	T	11: 104,920,822 (GRCm39)	D4671V	probably damaging	Het
Eml1	T	A	12: 108,504,438 (GRCm39)	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,519,660 (GRCm39)	T282I	probably damaging	Het
Fmo2	A	T	1: 162,705,647 (GRCm39)	C397*	probably null	Het
Gbp10	C	A	5: 105,369,847 (GRCm39)	V262L	probably benign	Het
Gm45871	A	T	18: 90,609,968 (GRCm39)	H402L	probably damaging	Het
Has1	T	C	17: 18,063,912 (GRCm39)	S576G	unknown	Het
Hat1	C	T	2: 71,271,647 (GRCm39)	R407W	probably damaging	Het
Hivep2	G	T	10: 14,008,157 (GRCm39)	R1585L	probably benign	Het
Ifi211	A	G	1: 173,733,894 (GRCm39)	V89A	possibly damaging	Het
Igkv4-59	T	C	6: 69,415,475 (GRCm39)	T27A	possibly damaging	Het
Irf9	T	A	14: 55,845,140 (GRCm39)	N333K	possibly damaging	Het
Jakmip2	C	T	18: 43,715,323 (GRCm39)	V68I	probably benign	Het
Kif1b	T	G	4: 149,275,712 (GRCm39)	I1400L	probably damaging	Het
Kif2b	C	T	11: 91,467,053 (GRCm39)	C410Y	probably benign	Het
Klk1b16	T	C	7: 43,790,189 (GRCm39)	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lama5	A	G	2: 179,838,311 (GRCm39)	C855R	probably damaging	Het
Mast3	A	G	8: 71,233,904 (GRCm39)	L947P	probably damaging	Het
Mblac2	C	A	13: 81,860,072 (GRCm39)	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,358,925 (GRCm39)	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,058,939 (GRCm39)	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590 (GRCm38)	L982P	probably damaging	Het
Nlrp4b	C	T	7: 10,448,886 (GRCm39)	T363I	probably damaging	Het
Nol10	A	G	12: 17,408,134 (GRCm39)	E120G	probably damaging	Het
Olfml1	T	C	7: 107,189,423 (GRCm39)	S163P	probably damaging	Het
Or2n1c	A	T	17: 38,519,555 (GRCm39)	N140Y	probably benign	Het
Or51a7	A	T	7: 102,614,618 (GRCm39)	I104F	probably damaging	Het
Or6ae1	T	C	7: 139,742,198 (GRCm39)	I222V	probably damaging	Het
Or8b43	T	A	9: 38,360,171 (GRCm39)	M1K	probably null	Het
Or8i2	T	C	2: 86,852,241 (GRCm39)	T216A	probably benign	Het
Pde6a	T	A	18: 61,419,060 (GRCm39)	L812Q	probably damaging	Het
Pdxp	T	A	15: 78,802,459 (GRCm39)	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,117,317 (GRCm39)	L1368P		Het
Ppie	T	C	4: 123,024,344 (GRCm39)	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,865,356 (GRCm39)	H657R	probably benign	Het
Sarnp	T	A	10: 128,657,842 (GRCm39)		probably null	Het
Serpinb9c	T	C	13: 33,334,329 (GRCm39)	T266A	probably damaging	Het
Srgap3	T	A	6: 112,757,854 (GRCm39)	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882 (GRCm39)	W717L	probably benign	Het
Tgfbi	A	G	13: 56,771,402 (GRCm39)	Y88C	probably damaging	Het
Tmc6	A	T	11: 117,661,308 (GRCm39)	F624Y	probably damaging	Het
Tnni2	A	G	7: 141,998,013 (GRCm39)	E172G	probably damaging	Het
Traf3ip1	T	C	1: 91,433,178 (GRCm39)	S316P	probably benign	Het
Tshr	C	A	12: 91,504,548 (GRCm39)	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,500,542 (GRCm39)	A317E	probably damaging	Het
Usp24	T	C	4: 106,275,412 (GRCm39)	V2229A	possibly damaging	Het
Usp32	G	A	11: 84,944,777 (GRCm39)	R304C	probably damaging	Het
Usp40	C	T	1: 87,935,063 (GRCm39)	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,724,109 (GRCm39)	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,507,284 (GRCm39)	K676M	probably benign	Het
Vnn1	A	G	10: 23,775,349 (GRCm39)	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,302,176 (GRCm39)	L698P	possibly 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
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
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'- GCATCAAGGTACCTGGGATG -3'
(R):5'- CTGTGCTAGGATTAAAGGTGTTCACC -3'

Sequencing Primer
(F):5'- CAAGGTACCTGGGATGCTGATATTTC -3'
(R):5'- GTGTTCACCACCACACCTGG -3'

Posted On

2021-10-11