Mutagenetix > Incidental Mutations

Incidental Mutation 'R4926:Foxo3'

379045

Institutional Source

Beutler Lab

Gene Symbol

Foxo3

Ensembl Gene

ENSMUSG00000048756

Gene Name

forkhead box O3

Synonyms

FKHRL1, 2010203A17Rik, 1110048B16Rik, Foxo3a, Fkhr2

MMRRC Submission

042527-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42181841-42276755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42197024 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 499 (V499E)

Ref Sequence

ENSEMBL: ENSMUSP00000135380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056974] [ENSMUST00000105502] [ENSMUST00000175881] [ENSMUST00000177542]

Predicted Effect

probably damaging
Transcript: ENSMUST00000056974
AA Change: V499E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050683
Gene: ENSMUSG00000048756
AA Change: V499E

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
low complexity region	107	146	N/A	INTRINSIC
FH	154	244	1.3e-45	SMART
low complexity region	266	276	N/A	INTRINSIC
low complexity region	341	358	N/A	INTRINSIC
low complexity region	395	408	N/A	INTRINSIC
Pfam:FOXO_KIX_bdg	431	510	5.5e-36	PFAM
low complexity region	529	538	N/A	INTRINSIC
low complexity region	578	595	N/A	INTRINSIC
Pfam:FOXO-TAD	603	644	1.9e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105502
AA Change: V499E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101141
Gene: ENSMUSG00000048756
AA Change: V499E

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
low complexity region	107	146	N/A	INTRINSIC
FH	154	244	1.3e-45	SMART
low complexity region	266	276	N/A	INTRINSIC
low complexity region	341	358	N/A	INTRINSIC
low complexity region	395	408	N/A	INTRINSIC
low complexity region	469	482	N/A	INTRINSIC
low complexity region	529	538	N/A	INTRINSIC
low complexity region	578	595	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000175881
AA Change: V499E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135380
Gene: ENSMUSG00000048756
AA Change: V499E

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
low complexity region	107	146	N/A	INTRINSIC
FH	154	244	1.3e-45	SMART
low complexity region	266	276	N/A	INTRINSIC
low complexity region	341	358	N/A	INTRINSIC
low complexity region	395	408	N/A	INTRINSIC
low complexity region	469	482	N/A	INTRINSIC
low complexity region	529	538	N/A	INTRINSIC
low complexity region	578	595	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177542

SMART Domains

Protein: ENSMUSP00000135355
Gene: ENSMUSG00000048756

Domain	Start	End	E-Value	Type
SCOP:d1e17a_	1	21	3e-4	SMART
Blast:FH	1	28	4e-10	BLAST
PDB:3COA\|F	1	43	1e-18	PDB
low complexity region	47	57	N/A	INTRINSIC

Meta Mutation Damage Score

0.5073

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (87/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inactivation of the locus results in an ovarian defect involving follicular growth activation and leads progressively to female sterility. For some alleles defects in immune system function and hematopoiesis have also been reported. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	T	9: 108,395,299	D136V	probably damaging	Het
Ankrd17	G	A	5: 90,300,032	R217W	probably damaging	Het
Ankrd23	A	T	1: 36,531,987	H102Q	probably damaging	Het
Arfip2	G	T	7: 105,637,944	R138S	probably damaging	Het
Arhgap27	A	T	11: 103,339,123		probably null	Het
Atg2a	T	C	19: 6,257,533	L1499P	probably damaging	Het
Bnc2	A	G	4: 84,276,179	S110P	probably damaging	Het
Ccdc171	T	C	4: 83,558,592		probably benign	Het
Ccdc7a	A	G	8: 128,980,054		probably benign	Het
Chd5	T	C	4: 152,383,311	S1689P	probably benign	Het
Corin	A	G	5: 72,372,182	C212R	probably damaging	Het
Cyp2c65	A	G	19: 39,061,153	I42V	probably benign	Het
Cyp3a25	G	A	5: 145,991,456	R260C	probably damaging	Het
Dock6	T	C	9: 21,845,791	Y116C	probably damaging	Het
Eif3a	A	G	19: 60,763,218		probably benign	Het
Epop	T	C	11: 97,628,317	D322G	probably damaging	Het
Eps8l3	T	A	3: 107,890,688		probably benign	Het
Exph5	T	C	9: 53,376,625	S1669P	possibly damaging	Het
Faah	A	T	4: 115,999,626		probably benign	Het
Fanca	A	G	8: 123,303,985	C453R	probably benign	Het
Fcgbp	T	A	7: 28,086,235	C366S	probably damaging	Het
Fmn2	A	G	1: 174,502,415	T124A	unknown	Het
Foxi3	C	T	6: 70,957,012	S161L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gbgt1	T	C	2: 28,503,170	V90A	probably damaging	Het
Gm839	A	C	6: 89,212,599		noncoding transcript	Het
Gtf3c2	T	C	5: 31,169,123	E348G	possibly damaging	Het
Hnrnpm	G	T	17: 33,649,801	R551S	probably damaging	Het
Hspa1l	A	G	17: 34,978,223	T413A	possibly damaging	Het
Hspg2	T	C	4: 137,542,530	Y2297H	probably damaging	Het
Ighv1-81	T	A	12: 115,920,473	I53L	probably benign	Het
Kcnj11	C	T	7: 46,099,120	V260I	probably benign	Het
Krt84	A	G	15: 101,530,254	V266A	probably benign	Het
Lgals3bp	T	C	11: 118,393,955	Y266C	probably damaging	Het
Lrrc41	T	C	4: 116,089,324	V412A	possibly damaging	Het
Map4k4	A	T	1: 40,017,225	E1023D	probably damaging	Het
Mark3	T	A	12: 111,618,324	L118*	probably null	Het
Mrgpra9	T	A	7: 47,235,011	T303S	possibly damaging	Het
Mterf4	T	C	1: 93,304,925	E68G	probably benign	Het
Nckap5	A	C	1: 126,528,641		probably benign	Het
Nox3	T	A	17: 3,669,894	T339S	probably damaging	Het
Nrip2	A	C	6: 128,408,374	H256P	probably benign	Het
Oas1d	T	C	5: 120,915,768	V97A	probably benign	Het
Obox2	T	A	7: 15,397,177		probably null	Het
Olfr979	T	C	9: 40,001,023		probably null	Het
Opa1	T	C	16: 29,648,973	F989S	possibly damaging	Het
Padi1	T	A	4: 140,824,847	I429F	probably damaging	Het
Paics	A	G	5: 76,961,204	D163G	probably damaging	Het
Pik3c2b	G	T	1: 133,099,626	E1288*	probably null	Het
Prdm16	A	T	4: 154,341,552	V593D	possibly damaging	Het
Prpf39	A	G	12: 65,044,056	I165M	possibly damaging	Het
Pth2r	A	G	1: 65,321,984	T26A	probably benign	Het
Ptpn21	T	C	12: 98,715,195		probably null	Het
Rab44	C	T	17: 29,139,555	A239V	probably benign	Het
Rtcb	T	C	10: 85,955,736	N52S	probably benign	Het
Sapcd2	T	A	2: 25,373,566		probably null	Het
Scaf11	T	C	15: 96,418,242	E1147G	possibly damaging	Het
Selenoo	T	C	15: 89,099,678	Y595H	probably damaging	Het
Slc2a5	G	T	4: 150,120,742	E3*	probably null	Het
Snw1	A	G	12: 87,452,658	V391A	probably benign	Het
Sorbs2	A	G	8: 45,796,217	K755R	probably benign	Het
Sorbs3	G	T	14: 70,186,945	P513T	probably damaging	Het
Sowaha	T	A	11: 53,479,510	E133V	possibly damaging	Het
Srsf5	T	C	12: 80,947,301		probably benign	Het
St8sia5	T	A	18: 77,254,782	M396K	possibly damaging	Het
Tcp11l1	T	C	2: 104,681,785	I501V	probably benign	Het
Tert	A	G	13: 73,648,389	K1080E	possibly damaging	Het
Tescl	T	A	7: 24,333,898	M1L	possibly damaging	Het
Thop1	T	A	10: 81,073,367		probably null	Het
Tmtc4	T	C	14: 122,973,206	H80R	probably damaging	Het
Toe1	C	T	4: 116,804,532	S480N	probably damaging	Het
Trap1	C	A	16: 4,045,488	V557F	probably benign	Het
Trim30d	T	C	7: 104,483,357	E91G	probably benign	Het
Ttf1	C	T	2: 29,064,656	H11Y	possibly damaging	Het
Ttll8	C	A	15: 88,914,165	G789V	probably damaging	Het
Ulk4	A	G	9: 121,258,732	F298S	probably benign	Het
Wwc1	C	T	11: 35,889,400	A243T	probably benign	Het
Zfp248	A	C	6: 118,429,826	H267Q	possibly damaging	Het
Zfyve26	T	A	12: 79,275,011	M945L	probably benign	Het
Zufsp	T	C	10: 33,949,438	D16G	probably damaging	Het

Other mutations in Foxo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0486:Foxo3	UTSW	10	42197481	missense	probably damaging	1.00
R1558:Foxo3	UTSW	10	42197072	missense	probably damaging	0.99
R1819:Foxo3	UTSW	10	42197611	missense	probably benign	0.12
R1970:Foxo3	UTSW	10	42197262	missense	probably benign	0.24
R1971:Foxo3	UTSW	10	42197262	missense	probably benign	0.24
R2447:Foxo3	UTSW	10	42197820	missense	probably benign
R3016:Foxo3	UTSW	10	42197356	missense	probably benign	0.00
R4719:Foxo3	UTSW	10	42197778	missense	probably damaging	1.00
R5908:Foxo3	UTSW	10	42196587	missense	probably benign	0.03
R6053:Foxo3	UTSW	10	42197214	missense	probably benign	0.26
R7142:Foxo3	UTSW	10	42274595	splice site	probably null
R7328:Foxo3	UTSW	10	42197262	missense	probably benign	0.14
R7386:Foxo3	UTSW	10	42197360	missense	probably benign	0.08
R7889:Foxo3	UTSW	10	42275027	missense	probably benign	0.41
R7896:Foxo3	UTSW	10	42197736	missense	possibly damaging	0.47
R7920:Foxo3	UTSW	10	42197769	missense	possibly damaging	0.47
R8212:Foxo3	UTSW	10	42196995	missense	possibly damaging	0.54
Z1176:Foxo3	UTSW	10	42275265	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGGAGTCACTCAAGCCCATG -3'
(R):5'- TTCAACAGTACCGTGTTTGGACC -3'

Sequencing Primer
(F):5'- TCAAGCCCATGTTGCTGACAG -3'
(R):5'- AGTACCGTGTTTGGACCTTCGTC -3'

Posted On

2016-04-15