Mutagenetix > Incidental Mutation

Incidental Mutation 'R4832:Akt1'

372928

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

042448-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R4832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112620260-112641266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 112623521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 313 (P313Q)

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: P313Q

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

SMART Domains

Protein: ENSMUSP00000001780
Gene: ENSMUSG00000001729
AA Change: P313Q

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

noncoding transcript
Transcript: ENSMUST00000123563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127902

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

noncoding transcript
Transcript: ENSMUST00000139388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159815

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (106/108)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,597 (GRCm39)	V186A	possibly damaging	Het
1700088E04Rik	A	T	15: 79,019,409 (GRCm39)	M198K	probably damaging	Het
4933402J07Rik	A	G	8: 88,294,601 (GRCm39)	K84R	probably null	Het
Aamdc	T	C	7: 97,199,773 (GRCm39)		probably null	Het
Abcc9	A	G	6: 142,617,282 (GRCm39)	V594A	probably damaging	Het
Adamts13	G	A	2: 26,879,414 (GRCm39)	D656N	probably benign	Het
Adcy10	G	T	1: 165,334,213 (GRCm39)	C122F	probably damaging	Het
Adi1	A	G	12: 28,725,252 (GRCm39)	M1V	probably null	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Ano3	A	T	2: 110,498,067 (GRCm39)	M758K	probably damaging	Het
Baz2a	T	A	10: 127,958,999 (GRCm39)	N1168K	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bcap29	A	G	12: 31,674,202 (GRCm39)	I131T	probably benign	Het
Brd10	G	T	19: 29,694,616 (GRCm39)	L1626I	possibly damaging	Het
Btnl6	T	C	17: 34,732,966 (GRCm39)	D299G	possibly damaging	Het
Ccdc66	A	G	14: 27,222,524 (GRCm39)	I73T	probably benign	Het
Cdh2	A	G	18: 16,760,754 (GRCm39)	S538P	probably benign	Het
Cfap54	T	A	10: 92,803,390 (GRCm39)	M1551L	probably benign	Het
Chd2	G	A	7: 73,151,873 (GRCm39)	A243V	probably damaging	Het
Cntnap1	T	A	11: 101,073,845 (GRCm39)	N665K	probably damaging	Het
Colgalt2	C	T	1: 152,360,749 (GRCm39)	T262I	possibly damaging	Het
Cyp24a1	T	C	2: 170,338,098 (GRCm39)	I149V	probably benign	Het
Cyp2a5	T	A	7: 26,534,970 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,366,080 (GRCm39)		probably null	Het
Dnah17	T	A	11: 117,917,606 (GRCm39)	I4158F	probably damaging	Het
Dnm2	G	A	9: 21,385,975 (GRCm39)		probably null	Het
Dpp7	A	T	2: 25,242,398 (GRCm39)		probably benign	Het
Epha6	T	A	16: 59,780,776 (GRCm39)	I642F	probably damaging	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Fancd2	A	G	6: 113,530,683 (GRCm39)	T439A	probably benign	Het
Fat1	G	A	8: 45,466,102 (GRCm39)	V1431M	possibly damaging	Het
Fhod3	G	A	18: 25,223,305 (GRCm39)	A884T	probably benign	Het
Fsip2	A	G	2: 82,820,515 (GRCm39)	D5416G	possibly damaging	Het
Gabarap	C	T	11: 69,882,678 (GRCm39)		probably benign	Het
Garre1	T	C	7: 33,938,333 (GRCm39)		probably benign	Het
Gm11544	C	T	11: 94,736,532 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,964 (GRCm39)	K304Q	probably benign	Het
Gpr141b	T	A	13: 19,913,840 (GRCm39)		noncoding transcript	Het
Gramd4	C	T	15: 86,019,057 (GRCm39)	A575V	probably benign	Het
Gtpbp10	G	A	5: 5,589,295 (GRCm39)	A274V	possibly damaging	Het
Gzmb	A	G	14: 56,497,679 (GRCm39)	I187T	probably damaging	Het
H2-M10.2	G	A	17: 36,595,219 (GRCm39)	T315I	probably damaging	Het
Haus5	A	T	7: 30,356,452 (GRCm39)	F524I	probably damaging	Het
Herc1	A	G	9: 66,403,253 (GRCm39)	S4391G	probably benign	Het
Herc2	T	A	7: 55,748,165 (GRCm39)	L511*	probably null	Het
Htt	T	A	5: 34,982,184 (GRCm39)	C923S	probably benign	Het
Idua	T	C	5: 108,817,247 (GRCm39)	S7P	probably benign	Het
Ighv16-1	A	T	12: 114,032,466 (GRCm39)	L112Q	probably damaging	Het
Igkv1-110	A	G	6: 68,248,185 (GRCm39)	K98R	probably benign	Het
Kif15	G	A	9: 122,831,191 (GRCm39)		probably null	Het
Leng9	C	A	7: 4,152,029 (GRCm39)	G216W	probably damaging	Het
Lrpprc	A	G	17: 85,014,584 (GRCm39)	L1306S	probably benign	Het
Lztfl1	C	A	9: 123,544,454 (GRCm39)	E20D	possibly damaging	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Map3k4	C	T	17: 12,490,667 (GRCm39)	E255K	probably damaging	Het
Megf9	G	A	4: 70,452,665 (GRCm39)	T132M	probably damaging	Het
Mob4	T	C	1: 55,184,411 (GRCm39)		probably benign	Het
Mttp	G	A	3: 137,821,811 (GRCm39)	A252V	probably benign	Het
Mxi1	A	G	19: 53,358,745 (GRCm39)	D226G	probably damaging	Het
Myh14	A	G	7: 44,274,566 (GRCm39)	S1249P	probably benign	Het
Mylk	G	A	16: 34,742,737 (GRCm39)	G1083D	probably benign	Het
Mylk4	T	G	13: 32,905,960 (GRCm39)	I408L	probably benign	Het
Nbas	A	G	12: 13,533,740 (GRCm39)	S1792G	probably benign	Het
Nelfb	A	G	2: 25,099,981 (GRCm39)	V212A	probably damaging	Het
Nisch	T	C	14: 30,899,587 (GRCm39)		probably benign	Het
Nqo1	C	G	8: 108,115,477 (GRCm39)	D267H	probably benign	Het
Or8u10	C	A	2: 85,915,190 (GRCm39)	L310F	probably benign	Het
Pcid2	T	A	8: 13,135,425 (GRCm39)	I195F	probably damaging	Het
Pcnx2	A	T	8: 126,478,927 (GRCm39)	M2107K	probably damaging	Het
Pgd	A	T	4: 149,241,048 (GRCm39)		probably benign	Het
Prim2	T	C	1: 33,503,145 (GRCm39)	M430V	probably benign	Het
Prkaa1	A	G	15: 5,190,101 (GRCm39)	T40A	probably damaging	Het
Ptges	T	C	2: 30,793,232 (GRCm39)		probably benign	Het
Ptprn	T	C	1: 75,234,909 (GRCm39)	E226G	probably benign	Het
Rab14	A	G	2: 35,079,978 (GRCm39)	F55S	probably damaging	Het
Ralgps2	A	T	1: 156,684,637 (GRCm39)		probably benign	Het
Rgs11	C	T	17: 26,426,542 (GRCm39)	H258Y	probably benign	Het
Rhpn2	T	C	7: 35,075,774 (GRCm39)		probably null	Het
Rprd2	A	T	3: 95,681,483 (GRCm39)	V452E	probably damaging	Het
Scube3	C	A	17: 28,384,989 (GRCm39)	H646Q	probably damaging	Het
Selp	A	T	1: 163,953,909 (GRCm39)	I70F	probably damaging	Het
Septin2	A	G	1: 93,426,849 (GRCm39)	I153V	probably damaging	Het
Sh3rf3	G	A	10: 58,649,905 (GRCm39)	S170N	probably benign	Het
Skint4	A	T	4: 112,000,963 (GRCm39)	I353F	possibly damaging	Het
Slc16a12	A	G	19: 34,657,780 (GRCm39)	I41T	possibly damaging	Het
Snai2	T	C	16: 14,524,881 (GRCm39)	F129S	probably damaging	Het
Top3b	C	T	16: 16,708,526 (GRCm39)	R629*	probably null	Het
Trim17	T	A	11: 58,862,270 (GRCm39)	V434E	probably damaging	Het
Ttn	G	A	2: 76,615,327 (GRCm39)	P15051L	probably damaging	Het
Uggt2	A	T	14: 119,239,259 (GRCm39)	I1391N	probably damaging	Het
Usp8	A	T	2: 126,596,958 (GRCm39)	M923L	probably damaging	Het
Vmn1r176	T	C	7: 23,534,463 (GRCm39)	H230R	possibly damaging	Het
Vmn1r217	C	A	13: 23,298,159 (GRCm39)	D248Y	probably damaging	Het
Vmn2r14	A	T	5: 109,363,976 (GRCm39)	C647S	probably damaging	Het
Vwa5b1	A	G	4: 138,332,851 (GRCm39)	I237T	probably damaging	Het
Zan	T	A	5: 137,391,423 (GRCm39)	D4687V	unknown	Het
Zfp273	T	C	13: 67,973,484 (GRCm39)	V204A	probably benign	Het
Zfp956	T	G	6: 47,928,987 (GRCm39)		probably benign	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
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
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'- GGCCACACATCATCTCGTACATG -3'
(R):5'- TGGACTACTTGCACTCCGAG -3'

Sequencing Primer
(F):5'- TCATCTCGTACATGACCACG -3'
(R):5'- TACTTGCACTCCGAGAAGAACGTG -3'

Posted On

2016-03-01