Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Foxo3'

735390

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 #

R9652 (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: 99.9%
3x: 99.8%
10x: 99.6%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,876,432 (GRCm39)	T395M	probably damaging	Het
Akap8l	T	C	17: 32,557,783 (GRCm39)	N35D	probably damaging	Het
Atr	T	A	9: 95,756,887 (GRCm39)	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,981,129 (GRCm39)	F86L	probably damaging	Het
Bmp1	T	C	14: 70,715,360 (GRCm39)	D925G	probably damaging	Het
Camkmt	A	T	17: 85,759,713 (GRCm39)	R284S	probably benign	Het
Cavin3	G	T	7: 105,131,304 (GRCm39)	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,334,553 (GRCm39)	H180R		Het
Cdh23	A	T	10: 60,167,135 (GRCm39)	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chpt1	T	C	10: 88,325,499 (GRCm39)	N122S	probably benign	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Cwh43	T	C	5: 73,572,340 (GRCm39)	S193P	probably benign	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dst	T	A	1: 34,219,458 (GRCm39)	I1966N	probably benign	Het
Eif3i	G	T	4: 129,489,094 (GRCm39)	F121L	probably benign	Het
Erbb2	T	C	11: 98,326,812 (GRCm39)	S1074P	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbn2	A	G	18: 58,146,722 (GRCm39)		probably null	Het
Gm2a	T	C	11: 54,999,764 (GRCm39)	V95A	probably benign	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Gramd4	G	A	15: 86,016,160 (GRCm39)	E504K	probably damaging	Het
Gusb	A	G	5: 130,026,652 (GRCm39)	S450P	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Katnbl1	T	A	2: 112,239,497 (GRCm39)	V232D	probably damaging	Het
Kifap3	T	C	1: 163,689,657 (GRCm39)	L547P	probably damaging	Het
Krt6a	C	T	15: 101,599,120 (GRCm39)	V482M	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Mical2	G	T	7: 111,945,996 (GRCm39)	R986L	probably damaging	Het
Mroh8	G	A	2: 157,094,970 (GRCm39)	Q339*	probably null	Het
Msln	A	T	17: 25,968,042 (GRCm39)	V541E	probably damaging	Het
Muc16	T	A	9: 18,498,178 (GRCm39)	M6590L	probably benign	Het
Nhsl3	T	C	4: 129,117,962 (GRCm39)	E279G	possibly damaging	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Nubp2	G	A	17: 25,103,382 (GRCm39)	T165I	probably damaging	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or2a7	A	G	6: 43,150,991 (GRCm39)	M24V	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Or6c33	T	C	10: 129,853,809 (GRCm39)	I193T	possibly damaging	Het
Or7a41	T	C	10: 78,871,230 (GRCm39)	I200T	probably benign	Het
Or8k39	A	T	2: 86,563,636 (GRCm39)	F107I	probably damaging	Het
P3h4	A	T	11: 100,304,499 (GRCm39)	C247*	probably null	Het
Pakap	G	A	4: 57,710,125 (GRCm39)	A357T	possibly damaging	Het
Plch2	T	A	4: 155,082,942 (GRCm39)	M569L	probably benign	Het
Plcl1	A	G	1: 55,735,450 (GRCm39)	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,904,526 (GRCm39)	N178K	probably benign	Het
Rasa4	T	C	5: 136,130,494 (GRCm39)	L340P	probably damaging	Het
Rassf10	A	G	7: 112,554,784 (GRCm39)	T462A	probably benign	Het
Rlf	G	C	4: 121,007,865 (GRCm39)	L482V	probably damaging	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,269,714 (GRCm39)	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,947,328 (GRCm39)	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,635,047 (GRCm39)	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,382,252 (GRCm39)	Q765R	probably damaging	Het
Senp6	T	A	9: 80,021,228 (GRCm39)	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Slc22a15	T	A	3: 101,790,848 (GRCm39)	Y219F	possibly damaging	Het
Slco1b2	T	G	6: 141,594,358 (GRCm39)		probably null	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Ssb	C	A	2: 69,700,784 (GRCm39)	A288E	probably damaging	Het
Syne2	A	G	12: 76,101,620 (GRCm39)	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,527,698 (GRCm39)	S43P	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,173 (GRCm39)	R657*	probably null	Het
Traf6	T	C	2: 101,518,927 (GRCm39)	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,720,390 (GRCm39)	N424K	possibly damaging	Het
Ubqln3	T	C	7: 103,791,962 (GRCm39)	I43V	probably damaging	Het
Usp32	A	G	11: 84,921,317 (GRCm39)	V699A	probably damaging	Het
Vmn2r103	T	C	17: 20,014,027 (GRCm39)	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,951,107 (GRCm39)	S113P	probably benign	Het
Wdr7	T	A	18: 63,860,826 (GRCm39)	I161N	probably damaging	Het
Zfp474	A	T	18: 52,772,015 (GRCm39)	I223F	probably damaging	Het
Zfp583	A	G	7: 6,320,328 (GRCm39)	L228P	probably damaging	Het
Zfyve27	A	G	19: 42,165,856 (GRCm39)	T76A	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
R9567: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
Z1176:Foxo3	UTSW	10	42,151,261 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GAGTCACTCAAGCCCATGTTG -3'
(R):5'- CCTTCAACAGTACCGTGTTTGG -3'

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

Posted On

2022-11-14