Mutagenetix > Incidental Mutation

Incidental Mutation 'R0173:Akt1s1'

23713

Institutional Source

Beutler Lab

Gene Symbol

Akt1s1

Ensembl Gene

ENSMUSG00000011096

Gene Name

AKT1 substrate 1

Synonyms

PRAS40, 1110012J22Rik, Lobe

MMRRC Submission

038445-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R0173 (G1)

Quality Score

200

Status

Validated (trace)

Chromosome

Chromosomal Location

44498648-44504845 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44502284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 95 (P95S)

Ref Sequence

ENSEMBL: ENSMUSP00000122607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003044] [ENSMUST00000047085] [ENSMUST00000054343] [ENSMUST00000098478] [ENSMUST00000107876] [ENSMUST00000107880] [ENSMUST00000107885] [ENSMUST00000141311] [ENSMUST00000107882] [ENSMUST00000127783] [ENSMUST00000136232] [ENSMUST00000139003] [ENSMUST00000123015] [ENSMUST00000124168] [ENSMUST00000150335] [ENSMUST00000207293] [ENSMUST00000208384] [ENSMUST00000207532] [ENSMUST00000207223] [ENSMUST00000155050] [ENSMUST00000145959] [ENSMUST00000201882] [ENSMUST00000154968]

AlphaFold

Q9D1F4

Predicted Effect

probably benign
Transcript: ENSMUST00000003044

SMART Domains

Protein: ENSMUSP00000003044
Gene: ENSMUSG00000002963

Domain	Start	End	E-Value	Type
PDB:1YJM\|C	1	110	4e-62	PDB
SCOP:d1lgpa_	8	114	5e-12	SMART
Blast:FHA	31	74	1e-10	BLAST
low complexity region	116	134	N/A	INTRINSIC
Pfam:PNK3P	165	327	9.3e-58	PFAM
low complexity region	350	364	N/A	INTRINSIC
Pfam:AAA_33	366	488	1.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047085

SMART Domains

Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520

Domain	Start	End	E-Value	Type
Pfam:DUF3548	3	217	8.2e-93	PFAM
low complexity region	249	259	N/A	INTRINSIC
TBC	307	545	3.93e-54	SMART
Blast:TBC	554	594	1e-6	BLAST
low complexity region	597	631	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054343
AA Change: P95S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049764
Gene: ENSMUSG00000011096
AA Change: P95S

Domain	Start	End	E-Value	Type
low complexity region	33	60	N/A	INTRINSIC
low complexity region	66	101	N/A	INTRINSIC
low complexity region	102	116	N/A	INTRINSIC
low complexity region	161	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098478

SMART Domains

Protein: ENSMUSP00000096078
Gene: ENSMUSG00000002963

Domain	Start	End	E-Value	Type
PDB:1YJM\|C	1	110	2e-62	PDB
SCOP:d1lgpa_	8	114	5e-12	SMART
Blast:FHA	31	74	1e-10	BLAST
low complexity region	116	134	N/A	INTRINSIC
Pfam:PNK3P	165	220	2.9e-16	PFAM
Pfam:PNK3P	211	291	5.3e-27	PFAM
low complexity region	314	328	N/A	INTRINSIC
Pfam:AAA_33	330	452	5.6e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102096

Predicted Effect

probably benign
Transcript: ENSMUST00000107876

SMART Domains

Protein: ENSMUSP00000103508
Gene: ENSMUSG00000002963

Domain	Start	End	E-Value	Type
PDB:1YJM\|C	1	110	4e-62	PDB
SCOP:d1lgpa_	8	114	5e-12	SMART
Blast:FHA	31	74	1e-10	BLAST
low complexity region	116	134	N/A	INTRINSIC
Pfam:PNK3P	165	327	1.9e-57	PFAM
low complexity region	350	364	N/A	INTRINSIC
Pfam:AAA_33	366	488	5.9e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107880
AA Change: P95S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103512
Gene: ENSMUSG00000011096
AA Change: P95S

Domain	Start	End	E-Value	Type
low complexity region	33	60	N/A	INTRINSIC
low complexity region	66	101	N/A	INTRINSIC
low complexity region	102	116	N/A	INTRINSIC
low complexity region	161	180	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107885
AA Change: P166S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103517
Gene: ENSMUSG00000011096
AA Change: P166S

Domain	Start	End	E-Value	Type
low complexity region	104	131	N/A	INTRINSIC
low complexity region	137	172	N/A	INTRINSIC
low complexity region	173	187	N/A	INTRINSIC
Pfam:PRAS	199	323	1.2e-51	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141311
AA Change: P102S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120690
Gene: ENSMUSG00000011096
AA Change: P102S

Domain	Start	End	E-Value	Type
low complexity region	40	67	N/A	INTRINSIC
low complexity region	73	108	N/A	INTRINSIC
low complexity region	109	123	N/A	INTRINSIC
low complexity region	168	187	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107882
AA Change: P121S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103514
Gene: ENSMUSG00000011096
AA Change: P121S

Domain	Start	End	E-Value	Type
low complexity region	59	86	N/A	INTRINSIC
low complexity region	92	127	N/A	INTRINSIC
low complexity region	128	142	N/A	INTRINSIC
low complexity region	187	206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127783
AA Change: P95S

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000116149
Gene: ENSMUSG00000011096
AA Change: P95S

Domain	Start	End	E-Value	Type
low complexity region	33	60	N/A	INTRINSIC
low complexity region	66	101	N/A	INTRINSIC
low complexity region	102	116	N/A	INTRINSIC
Pfam:PRAS	134	247	1.3e-39	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136232
AA Change: P95S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116541
Gene: ENSMUSG00000011096
AA Change: P95S

Domain	Start	End	E-Value	Type
low complexity region	33	60	N/A	INTRINSIC
low complexity region	66	95	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139947

Predicted Effect

probably benign
Transcript: ENSMUST00000139003

SMART Domains

Protein: ENSMUSP00000143904
Gene: ENSMUSG00000002963

Domain	Start	End	E-Value	Type
PDB:1YJM\|C	1	51	3e-30	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000123015

SMART Domains

Protein: ENSMUSP00000143862
Gene: ENSMUSG00000002963

Domain	Start	End	E-Value	Type
PDB:1YJ5\|C	1	143	8e-72	PDB
SCOP:d1lgpa_	8	114	7e-13	SMART
Blast:FHA	31	74	2e-10	BLAST
PDB:3U7G\|A	144	165	7e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000124168

SMART Domains

Protein: ENSMUSP00000144330
Gene: ENSMUSG00000002963

Domain	Start	End	E-Value	Type
PDB:1YJM\|C	1	51	3e-30	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150335
AA Change: P95S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122607
Gene: ENSMUSG00000011096
AA Change: P95S

Domain	Start	End	E-Value	Type
low complexity region	33	60	N/A	INTRINSIC
low complexity region	66	101	N/A	INTRINSIC
low complexity region	102	116	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152091

Predicted Effect

probably benign
Transcript: ENSMUST00000208384

Predicted Effect

probably benign
Transcript: ENSMUST00000207532

Predicted Effect

probably benign
Transcript: ENSMUST00000208890

Predicted Effect

probably benign
Transcript: ENSMUST00000207223

Predicted Effect

probably benign
Transcript: ENSMUST00000155050

SMART Domains

Protein: ENSMUSP00000144663
Gene: ENSMUSG00000002963

Domain	Start	End	E-Value	Type
PDB:1YJM\|C	1	50	9e-30	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000145959

SMART Domains

Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520

Domain	Start	End	E-Value	Type
Pfam:DUF3548	3	217	5.8e-93	PFAM
low complexity region	249	259	N/A	INTRINSIC
TBC	307	544	3.91e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201882

SMART Domains

Protein: ENSMUSP00000144690
Gene: ENSMUSG00000002963

Domain	Start	End	E-Value	Type
PDB:1YJM\|C	1	110	6e-63	PDB
SCOP:d1lgpa_	8	114	3e-12	SMART
Blast:FHA	31	74	2e-10	BLAST
low complexity region	116	134	N/A	INTRINSIC
Pfam:PNK3P	165	327	9.9e-55	PFAM
low complexity region	350	364	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154968

Meta Mutation Damage Score

0.0911

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.1%

Validation Efficiency

96% (64/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to induced ischemic brain injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	G	A	8: 100,148,286 (GRCm39)		noncoding transcript	Het
Ambra1	T	C	2: 91,640,564 (GRCm39)		probably benign	Het
Aunip	T	A	4: 134,250,861 (GRCm39)	W269R	probably damaging	Het
Bmper	A	G	9: 23,136,125 (GRCm39)	M69V	probably benign	Het
Cdh2	A	T	18: 16,783,314 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,965,744 (GRCm39)	M2074T	probably benign	Het
Col14a1	C	T	15: 55,351,928 (GRCm39)	P1592S	probably damaging	Het
Csgalnact1	G	A	8: 68,913,681 (GRCm39)	R175C	probably damaging	Het
Dtx1	A	G	5: 120,820,818 (GRCm39)		probably benign	Het
Elmod3	T	C	6: 72,554,571 (GRCm39)	D154G	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Gab1	T	C	8: 81,526,789 (GRCm39)	D103G	possibly damaging	Het
Gon4l	A	G	3: 88,765,710 (GRCm39)	D377G	probably damaging	Het
Gramd1c	C	T	16: 43,818,196 (GRCm39)	R328K	possibly damaging	Het
Hdac3	A	G	18: 38,074,806 (GRCm39)	S312P	probably damaging	Het
Hmcn2	T	C	2: 31,328,343 (GRCm39)		probably null	Het
Intu	T	C	3: 40,629,776 (GRCm39)		probably null	Het
Lnpk	T	C	2: 74,381,409 (GRCm39)	K118R	probably damaging	Het
Lzts3	A	C	2: 130,476,688 (GRCm39)	*587G	probably null	Het
Mctp2	C	T	7: 71,896,855 (GRCm39)		probably null	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mmp23	G	T	4: 155,735,222 (GRCm39)	R374S	possibly damaging	Het
Morc3	G	A	16: 93,629,094 (GRCm39)		probably null	Het
Mymk	C	T	2: 26,952,262 (GRCm39)	A161T	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Neb	T	C	2: 52,133,859 (GRCm39)	S3375G	probably damaging	Het
Nedd1	T	C	10: 92,534,745 (GRCm39)	D255G	probably benign	Het
Nid2	T	C	14: 19,852,400 (GRCm39)		probably benign	Het
Nr1d2	A	G	14: 18,215,502 (GRCm38)		probably benign	Het
Nus1	A	G	10: 52,294,094 (GRCm39)	H86R	possibly damaging	Het
Or5b118	A	T	19: 13,449,065 (GRCm39)	I244F	probably benign	Het
Or7g17	A	G	9: 18,768,325 (GRCm39)	I135V	probably damaging	Het
Plcxd2	A	T	16: 45,785,542 (GRCm39)		probably null	Het
Prdm9	T	A	17: 15,764,275 (GRCm39)	D835V	probably benign	Het
Prdm9	A	G	17: 15,764,297 (GRCm39)	W828R	probably benign	Het
Prkd2	T	C	7: 16,582,969 (GRCm39)	S244P	probably benign	Het
Psmd4	A	T	3: 94,940,234 (GRCm39)	L159H	probably damaging	Het
Qprt	C	T	7: 126,707,543 (GRCm39)	G215E	probably damaging	Het
Rab3gap2	C	A	1: 184,982,104 (GRCm39)	H385Q	possibly damaging	Het
Rapgef5	A	G	12: 117,652,411 (GRCm39)	D300G	probably benign	Het
Rbl1	A	T	2: 157,001,605 (GRCm39)	N894K	probably benign	Het
Rgma	C	T	7: 73,067,302 (GRCm39)	R280W	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rundc3a	T	A	11: 102,289,071 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,318,075 (GRCm39)	D496E	probably benign	Het
Scn9a	T	C	2: 66,363,437 (GRCm39)	Y936C	probably damaging	Het
Sdk1	A	G	5: 142,159,564 (GRCm39)		probably benign	Het
Serpinb9	G	A	13: 33,194,705 (GRCm39)	D154N	probably benign	Het
Slc48a1	A	T	15: 97,688,555 (GRCm39)	H131L	possibly damaging	Het
Slco1a6	T	C	6: 142,048,848 (GRCm39)	N311D	probably benign	Het
Sorl1	A	G	9: 41,979,229 (GRCm39)	V423A	probably damaging	Het
Srrm2	C	A	17: 24,034,103 (GRCm39)		probably benign	Het
Srsf12	A	T	4: 33,226,117 (GRCm39)	S122C	probably damaging	Het
Suclg2	G	C	6: 95,452,154 (GRCm39)		probably benign	Het
Tbpl1	A	T	10: 22,583,523 (GRCm39)	L149*	probably null	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem63a	T	C	1: 180,782,363 (GRCm39)		probably benign	Het
Tut1	C	T	19: 8,942,847 (GRCm39)	R645*	probably null	Het
Ubqln4	T	A	3: 88,462,686 (GRCm39)	D50E	probably benign	Het
Ubr5	A	G	15: 38,004,919 (GRCm39)	S1227P	probably damaging	Het
Vipas39	A	G	12: 87,297,285 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps26b	G	A	9: 26,924,101 (GRCm39)	T214I	probably benign	Het
Xpc	A	G	6: 91,481,717 (GRCm39)		probably benign	Het

Other mutations in Akt1s1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0645:Akt1s1	UTSW	7	44,498,645 (GRCm39)	unclassified	probably benign
R3894:Akt1s1	UTSW	7	44,503,363 (GRCm39)	missense	probably damaging	1.00
R4378:Akt1s1	UTSW	7	44,503,384 (GRCm39)	missense	probably damaging	1.00
R5068:Akt1s1	UTSW	7	44,499,432 (GRCm39)	critical splice donor site	probably null
R7288:Akt1s1	UTSW	7	44,498,571 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCACAGAGCTGGTATTACTGACTGC -3'
(R):5'- AAAGGCAATCTCCCAACCCTGGTG -3'

Sequencing Primer
(F):5'- CTGCCTCCACGACATCG -3'
(R):5'- GGTGTGCTACATTTGCACAAC -3'

Posted On

2013-04-16