Mutagenetix > Incidental Mutation

Incidental Mutation 'R9567:Foxo3'

721701

Institutional Source

Beutler Lab

Gene Symbol

Foxo3

Ensembl Gene

ENSMUSG00000048756

Gene Name

forkhead box O3

Synonyms

Fkhr2, 2010203A17Rik, 1110048B16Rik, Foxo3a, FKHRL1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9567 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42057841-42152691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42073021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 499 (V499M)

Ref Sequence

ENSEMBL: ENSMUSP00000050683 (fasta)

Gene Model

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

AlphaFold

Q9WVH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000056974
AA Change: V499M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050683
Gene: ENSMUSG00000048756
AA Change: V499M

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: V499M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101141
Gene: ENSMUSG00000048756
AA Change: V499M

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: V499M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135380
Gene: ENSMUSG00000048756
AA Change: V499M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,602,793 (GRCm39)	P52S	probably damaging	Het
6820408C15Rik	C	A	2: 152,270,867 (GRCm39)	P30Q	probably damaging	Het
Adam18	C	T	8: 25,118,210 (GRCm39)	V569I	probably benign	Het
Adnp2	A	T	18: 80,174,133 (GRCm39)	L92Q	probably damaging	Het
Ahi1	C	T	10: 20,857,300 (GRCm39)	H632Y	possibly damaging	Het
Akap9	A	G	5: 4,127,311 (GRCm39)	N3720D	possibly damaging	Het
Alpk3	T	C	7: 80,742,687 (GRCm39)	S835P	possibly damaging	Het
Amer3	C	T	1: 34,627,836 (GRCm39)	L692F	probably benign	Het
Anks6	T	A	4: 47,044,880 (GRCm39)	D342V	unknown	Het
Arap2	G	T	5: 62,761,841 (GRCm39)	F1628L	probably benign	Het
Arhgap21	T	G	2: 20,896,953 (GRCm39)	I108L	possibly damaging	Het
Cacna1h	T	C	17: 25,612,487 (GRCm39)	I404V	probably damaging	Het
Cacna2d3	G	T	14: 28,627,268 (GRCm39)	A1077E	probably benign	Het
Cacng6	T	C	7: 3,483,281 (GRCm39)	V203A	probably benign	Het
Clec1b	A	T	6: 129,382,201 (GRCm39)	D226V	possibly damaging	Het
Crb1	A	C	1: 139,171,208 (GRCm39)	S727R	probably benign	Het
Dars1	T	C	1: 128,343,112 (GRCm39)	I35V		Het
Ddo	T	A	10: 40,523,913 (GRCm39)	V301D	probably damaging	Het
Diablo	C	A	5: 123,662,196 (GRCm39)		probably benign	Het
Dipk1a	T	A	5: 108,057,368 (GRCm39)	K397*	probably null	Het
Dnhd1	C	A	7: 105,353,473 (GRCm39)	H2875Q	probably benign	Het
E230025N22Rik	A	G	18: 36,820,336 (GRCm39)	L282P		Het
Ebna1bp2	A	G	4: 118,478,190 (GRCm39)	Q21R	probably benign	Het
Exoc7	C	T	11: 116,195,724 (GRCm39)	V93I	probably benign	Het
Foxk1	T	A	5: 142,387,713 (GRCm39)	Y145*	probably null	Het
Fsip2	C	T	2: 82,798,173 (GRCm39)	T489M	probably benign	Het
Gbf1	C	T	19: 46,260,046 (GRCm39)	T1067I		Het
Ggta1	T	A	2: 35,313,333 (GRCm39)	T3S	possibly damaging	Het
Guf1	T	A	5: 69,721,951 (GRCm39)	V370E	possibly damaging	Het
Hmg20a	A	G	9: 56,384,472 (GRCm39)	S81G	probably benign	Het
Igf2r	G	A	17: 12,905,641 (GRCm39)	T2230I	probably damaging	Het
Ighmbp2	A	T	19: 3,332,785 (GRCm39)	M1K	probably null	Het
Klhdc9	T	C	1: 171,187,914 (GRCm39)	T106A	probably benign	Het
Kti12	T	C	4: 108,705,935 (GRCm39)	M283T	possibly damaging	Het
Lrig3	C	T	10: 125,845,964 (GRCm39)	P798S	probably benign	Het
Lrp8	T	C	4: 107,711,469 (GRCm39)	F333L	probably damaging	Het
Lyn	T	A	4: 3,746,757 (GRCm39)	D178E	probably benign	Het
Magi1	G	A	6: 93,655,431 (GRCm39)	A1405V	probably damaging	Het
Magi1	A	C	6: 93,659,931 (GRCm39)		probably null	Het
Mdga1	G	A	17: 30,076,569 (GRCm39)	P68S	probably damaging	Het
Mfsd8	T	C	3: 40,793,933 (GRCm39)	S25G	probably benign	Het
Mgat1	C	A	11: 49,152,694 (GRCm39)	S392R	probably benign	Het
Mtmr2	C	T	9: 13,713,301 (GRCm39)	Q493*	probably null	Het
Myocd	A	T	11: 65,078,410 (GRCm39)	S462T	probably damaging	Het
Ndnf	A	G	6: 65,681,164 (GRCm39)	Y481C	probably damaging	Het
Neb	G	T	2: 52,065,138 (GRCm39)	R6258S	probably damaging	Het
Nlrp4c	A	G	7: 6,063,624 (GRCm39)	M11V	probably benign	Het
Nup93	T	C	8: 95,035,604 (GRCm39)	S658P	possibly damaging	Het
Obox2	T	A	7: 15,130,771 (GRCm39)	M1K	probably null	Het
Or10ag55-ps1	T	A	2: 87,115,037 (GRCm39)	Y134*	probably null	Het
Or10g9	T	A	9: 39,912,367 (GRCm39)	H52L	possibly damaging	Het
Or1e20-ps1	G	T	11: 73,324,789 (GRCm39)	H88N	unknown	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Pcdh18	T	A	3: 49,710,884 (GRCm39)	I144F	possibly damaging	Het
Pcdhgb5	C	T	18: 37,864,982 (GRCm39)	T259I	probably damaging	Het
Pclo	A	G	5: 14,763,436 (GRCm39)	T685A		Het
Pecam1	T	C	11: 106,588,121 (GRCm39)	T139A	possibly damaging	Het
Pi15	T	A	1: 17,695,178 (GRCm39)	L265Q	probably damaging	Het
Pkd1l3	T	A	8: 110,394,173 (GRCm39)	F2053L	probably damaging	Het
Ppp1r36	A	G	12: 76,485,900 (GRCm39)	I353V	probably benign	Het
Ppp1r9a	A	G	6: 5,157,004 (GRCm39)	S961G	probably benign	Het
Rbm42	T	C	7: 30,345,395 (GRCm39)	R151G	possibly damaging	Het
Rnf224	T	C	2: 25,126,354 (GRCm39)		probably benign	Het
Scn2a	C	T	2: 65,518,974 (GRCm39)	T400I	probably damaging	Het
Slc17a5	T	A	9: 78,445,562 (GRCm39)	Q457L	possibly damaging	Het
Slc5a4a	A	T	10: 76,022,396 (GRCm39)	D577V	probably benign	Het
Stim2	A	G	5: 54,232,707 (GRCm39)	D123G	probably damaging	Het
Stxbp5l	A	G	16: 37,061,734 (GRCm39)	F359L	probably benign	Het
Syne1	T	C	10: 5,196,386 (GRCm39)	D3882G	possibly damaging	Het
Synj1	G	T	16: 90,790,912 (GRCm39)	S83Y	possibly damaging	Het
Tfip11	C	T	5: 112,479,029 (GRCm39)	T199I	probably damaging	Het
Thoc2l	T	A	5: 104,669,644 (GRCm39)	S1389T	probably benign	Het
Tiam1	T	A	16: 89,591,653 (GRCm39)	D1349V	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ucn3	T	A	13: 3,991,313 (GRCm39)	D113V	probably damaging	Het
Ugt3a1	A	G	15: 9,306,370 (GRCm39)	D173G	possibly damaging	Het
Uimc1	C	A	13: 55,188,427 (GRCm39)	R544L	possibly damaging	Het
Unc13c	T	C	9: 73,536,485 (GRCm39)	S1623G	probably damaging	Het
Vmn2r41	T	C	7: 8,141,391 (GRCm39)	N691S	probably benign	Het
Wdr24	T	A	17: 26,043,190 (GRCm39)	M4K	probably damaging	Het
Wdr48	T	C	9: 119,741,454 (GRCm39)	F332L	probably benign	Het
Xpo7	A	G	14: 70,903,466 (GRCm39)	V1080A	probably benign	Het
Zc3h3	A	T	15: 75,651,261 (GRCm39)	I653N	probably damaging	Het
Zfp1005	A	T	2: 150,109,517 (GRCm39)	H69L	possibly damaging	Het
Zfp362	T	A	4: 128,688,681 (GRCm39)	M1L	unknown	Het
Zfp503	A	G	14: 22,036,041 (GRCm39)	C292R	possibly damaging	Het

Other mutations in Foxo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0486:Foxo3	UTSW	10	42,073,477 (GRCm39)	missense	probably damaging	1.00
R1558:Foxo3	UTSW	10	42,073,068 (GRCm39)	missense	probably damaging	0.99
R1819:Foxo3	UTSW	10	42,073,607 (GRCm39)	missense	probably benign	0.12
R1970:Foxo3	UTSW	10	42,073,258 (GRCm39)	missense	probably benign	0.24
R1971:Foxo3	UTSW	10	42,073,258 (GRCm39)	missense	probably benign	0.24
R2447:Foxo3	UTSW	10	42,073,816 (GRCm39)	missense	probably benign
R3016:Foxo3	UTSW	10	42,073,352 (GRCm39)	missense	probably benign	0.00
R4719:Foxo3	UTSW	10	42,073,774 (GRCm39)	missense	probably damaging	1.00
R4926:Foxo3	UTSW	10	42,073,020 (GRCm39)	missense	probably damaging	0.98
R5908:Foxo3	UTSW	10	42,072,583 (GRCm39)	missense	probably benign	0.03
R6053:Foxo3	UTSW	10	42,073,210 (GRCm39)	missense	probably benign	0.26
R7142:Foxo3	UTSW	10	42,150,591 (GRCm39)	splice site	probably null
R7328:Foxo3	UTSW	10	42,073,258 (GRCm39)	missense	probably benign	0.14
R7386:Foxo3	UTSW	10	42,073,356 (GRCm39)	missense	probably benign	0.08
R7889:Foxo3	UTSW	10	42,151,023 (GRCm39)	missense	probably benign	0.41
R7896:Foxo3	UTSW	10	42,073,732 (GRCm39)	missense	possibly damaging	0.47
R7920:Foxo3	UTSW	10	42,073,765 (GRCm39)	missense	possibly damaging	0.47
R8212:Foxo3	UTSW	10	42,072,991 (GRCm39)	missense	possibly damaging	0.54
R8560:Foxo3	UTSW	10	42,151,278 (GRCm39)	missense	possibly damaging	0.95
R9293:Foxo3	UTSW	10	42,073,021 (GRCm39)	missense	probably damaging	0.99
R9294:Foxo3	UTSW	10	42,073,021 (GRCm39)	missense	probably damaging	0.99
R9491:Foxo3	UTSW	10	42,073,021 (GRCm39)	missense	probably damaging	0.99
R9502:Foxo3	UTSW	10	42,073,021 (GRCm39)	missense	probably damaging	0.99
R9584:Foxo3	UTSW	10	42,073,021 (GRCm39)	missense	probably damaging	0.99
R9614:Foxo3	UTSW	10	42,073,021 (GRCm39)	missense	probably damaging	0.99
R9651:Foxo3	UTSW	10	42,073,021 (GRCm39)	missense	probably damaging	0.99
R9652:Foxo3	UTSW	10	42,073,021 (GRCm39)	missense	probably damaging	0.99
Z1176:Foxo3	UTSW	10	42,151,261 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCACTCAAGCCCATGTTGC -3'
(R):5'- GCTCCTTCAACAGTACCGTG -3'

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

Posted On

2022-08-09