Mutagenetix > Incidental Mutation

Incidental Mutation 'R9491:Foxo3'

716938

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 #

R9491 (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: 99.7%
20x: 99.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	G	A	9: 106,312,994 (GRCm39)	T142I	probably damaging	Het
Adcy9	T	C	16: 4,236,052 (GRCm39)	E453G	probably damaging	Het
Ank3	A	C	10: 69,838,339 (GRCm39)		probably null	Het
Asmt	G	A	X: 169,108,405 (GRCm39)	G103D	possibly damaging	Het
Cap2	C	T	13: 46,791,366 (GRCm39)	P290S	possibly damaging	Het
Cfap43	A	T	19: 47,800,505 (GRCm39)		probably null	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Clstn1	T	C	4: 149,731,929 (GRCm39)	S950P	probably damaging	Het
Cluap1	G	A	16: 3,758,732 (GRCm39)	R398Q	probably benign	Het
Cmbl	G	T	15: 31,582,119 (GRCm39)	V39L	probably benign	Het
Dapk1	A	G	13: 60,877,369 (GRCm39)	D536G	probably benign	Het
Ddx3y	T	A	Y: 1,279,465 (GRCm39)	D133V	probably benign	Het
Duox1	T	A	2: 122,156,907 (GRCm39)	S525T	probably benign	Het
Eif2s2	T	C	2: 154,734,630 (GRCm39)		probably benign	Het
Gadd45a	A	T	6: 67,012,730 (GRCm39)	D137E	probably benign	Het
Gmppa	A	G	1: 75,415,602 (GRCm39)	D120G	probably damaging	Het
Gpr156	A	T	16: 37,825,704 (GRCm39)	R640S	probably benign	Het
Grik1	A	T	16: 87,746,995 (GRCm39)	M414K		Het
Gtse1	C	T	15: 85,755,734 (GRCm39)	P466L	probably damaging	Het
H6pd	T	A	4: 150,080,366 (GRCm39)	N160Y	probably benign	Het
Hectd4	T	G	5: 121,452,981 (GRCm39)	L496R	probably damaging	Het
Hnrnpk	G	T	13: 58,541,050 (GRCm39)	Q441K	probably benign	Het
Incenp	T	C	19: 9,854,141 (GRCm39)	K637E	unknown	Het
Irgc	C	T	7: 24,132,349 (GRCm39)	R156H	probably benign	Het
Kazn	C	T	4: 141,845,436 (GRCm39)	A383T		Het
Lmln	A	G	16: 32,890,358 (GRCm39)	E169G	possibly damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mdfic	T	A	6: 15,799,852 (GRCm39)	C326*	probably null	Het
Ncoa1	T	A	12: 4,340,912 (GRCm39)	D840V	probably benign	Het
Nkd1	A	G	8: 89,300,875 (GRCm39)	D81G	probably benign	Het
Or5an1c	T	C	19: 12,218,606 (GRCm39)	T140A	probably benign	Het
Or8c10	T	C	9: 38,278,971 (GRCm39)	V33A	possibly damaging	Het
Parp4	G	A	14: 56,832,828 (GRCm39)	E384K	probably damaging	Het
Pcdhgb4	T	A	18: 37,854,895 (GRCm39)	L430H	probably damaging	Het
Pdgfrb	A	G	18: 61,212,056 (GRCm39)	Y861C	probably damaging	Het
Pheta1	G	A	5: 121,991,051 (GRCm39)	A138T	probably benign	Het
Pipox	T	A	11: 77,772,359 (GRCm39)	Y337F	probably benign	Het
Prcc	A	G	3: 87,774,671 (GRCm39)	V377A	probably benign	Het
Prrg2	T	A	7: 44,706,218 (GRCm39)	Y133F	probably damaging	Het
Ptchd3	T	C	11: 121,733,813 (GRCm39)	V901A	probably damaging	Het
Rgl1	A	G	1: 152,424,869 (GRCm39)	L335P	probably damaging	Het
Setx	T	A	2: 29,037,835 (GRCm39)	M1440K	probably benign	Het
Smchd1	A	G	17: 71,667,020 (GRCm39)		probably null	Het
Tbpl2	T	C	2: 23,986,532 (GRCm39)	I6V	probably benign	Het
Tdrd12	T	A	7: 35,188,689 (GRCm39)	H516L		Het
Tmem8b	C	T	4: 43,673,938 (GRCm39)	R190C	probably damaging	Het
Tpmt	A	T	13: 47,180,752 (GRCm39)	S196T	probably benign	Het
Trp63	A	G	16: 25,695,472 (GRCm39)	N478S	unknown	Het
Vstm5	T	G	9: 15,168,586 (GRCm39)	I50S	probably damaging	Het
Wdhd1	A	T	14: 47,505,616 (GRCm39)	C285*	probably null	Het
Zdhhc23	A	C	16: 43,794,062 (GRCm39)	V204G	probably benign	Het
Zfp653	T	A	9: 21,969,622 (GRCm39)	K215*	probably null	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
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
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'- TGGAGTCACTCAAGCCCATG -3'
(R):5'- TTCAACAGTACCGTGTTTGGAC -3'

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

Posted On

2022-07-18