Mutagenetix > Incidental Mutation

Incidental Mutation 'R5908:Foxo3'

460795

Institutional Source

Beutler Lab

Gene Symbol

Foxo3

Ensembl Gene

ENSMUSG00000048756

Gene Name

forkhead box O3

Synonyms

Fkhr2, 2010203A17Rik, 1110048B16Rik, Foxo3a, FKHRL1

MMRRC Submission

044105-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5908 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42057841-42152691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42072583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 645 (I645V)

Ref Sequence

ENSEMBL: ENSMUSP00000135380 (fasta)

Gene Model

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

AlphaFold

Q9WVH4

Predicted Effect

probably benign
Transcript: ENSMUST00000056974
AA Change: I645V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000050683
Gene: ENSMUSG00000048756
AA Change: I645V

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 benign
Transcript: ENSMUST00000105502
AA Change: I645V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101141
Gene: ENSMUSG00000048756
AA Change: I645V

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: ENSMUST00000175881
AA Change: I645V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135380
Gene: ENSMUSG00000048756
AA Change: I645V

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

0.0592

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.8%

Validation Efficiency

97% (69/71)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,624,730 (GRCm39)	L198H	probably damaging	Het
Anks1	C	T	17: 28,214,993 (GRCm39)	T480I	probably damaging	Het
Arhgef18	G	A	8: 3,503,165 (GRCm39)	R857Q	probably damaging	Het
B230208B08Rik	A	G	4: 78,132,297 (GRCm39)		noncoding transcript	Het
B9d2	T	A	7: 25,382,724 (GRCm39)	W33R	probably damaging	Het
Bcl2a1c	A	G	9: 114,159,572 (GRCm39)	T117A	probably benign	Het
Btbd8	T	G	5: 107,655,460 (GRCm39)	D574E	probably damaging	Het
Cabin1	A	G	10: 75,557,366 (GRCm39)	S1091P	probably damaging	Het
Clip3	C	A	7: 29,996,298 (GRCm39)	D64E	probably damaging	Het
Col6a5	C	G	9: 105,740,000 (GRCm39)	D2540H	possibly damaging	Het
Commd5	A	T	15: 76,785,136 (GRCm39)	M178L	probably benign	Het
Crtc3	T	A	7: 80,245,542 (GRCm39)	H361L	possibly damaging	Het
Dip2b	T	A	15: 100,049,065 (GRCm39)	L153Q	possibly damaging	Het
Eif2s1	T	A	12: 78,926,817 (GRCm39)	V189D	probably damaging	Het
Etl4	C	T	2: 20,748,718 (GRCm39)	A483V	probably damaging	Het
Gm4841	A	G	18: 60,403,506 (GRCm39)	S196P	possibly damaging	Het
Hip1	A	G	5: 135,453,717 (GRCm39)		probably null	Het
Il36rn	G	T	2: 24,167,502 (GRCm39)		probably benign	Het
Ints2	A	G	11: 86,106,371 (GRCm39)		probably null	Het
Khnyn	A	G	14: 56,124,523 (GRCm39)	D259G	probably benign	Het
Lyst	T	A	13: 13,871,346 (GRCm39)	Y2694*	probably null	Het
Map4k2	T	C	19: 6,401,346 (GRCm39)		probably benign	Het
Marchf10	C	T	11: 105,281,065 (GRCm39)	V407I	probably benign	Het
Mast4	C	A	13: 102,874,764 (GRCm39)	V1367F	probably damaging	Het
Mrgprb3	A	T	7: 48,293,366 (GRCm39)	S62T	probably damaging	Het
Mthfd1l	T	C	10: 4,039,392 (GRCm39)	F801S	probably damaging	Het
Nhsl3	A	G	4: 129,115,941 (GRCm39)	S908P	probably damaging	Het
Notch2	T	C	3: 98,031,239 (GRCm39)		probably benign	Het
Nr2e1	T	C	10: 42,448,765 (GRCm39)	S158G	probably benign	Het
Nup214	A	G	2: 31,881,353 (GRCm39)	I404V	probably benign	Het
Or13n4	T	C	7: 106,423,404 (GRCm39)	T110A	probably benign	Het
Pik3c2g	G	A	6: 139,714,436 (GRCm39)	R196H		Het
Pik3r3	A	T	4: 116,129,955 (GRCm39)	D213V	probably benign	Het
Pip5k1b	A	T	19: 24,374,501 (GRCm39)	S27T	possibly damaging	Het
Pkp1	G	A	1: 135,846,621 (GRCm39)	Q44*	probably null	Het
Pnma8b	C	T	7: 16,680,968 (GRCm39)	R651C	unknown	Het
Pnpt1	T	A	11: 29,080,887 (GRCm39)	S44T	probably benign	Het
Polb	A	T	8: 23,132,319 (GRCm39)		probably null	Het
Pom121l2	A	G	13: 22,165,984 (GRCm39)	N85S	probably damaging	Het
Prim1	A	G	10: 127,853,893 (GRCm39)	K104E	probably damaging	Het
Prl8a1	T	A	13: 27,758,040 (GRCm39)	Y223F	probably benign	Het
Rbak	T	G	5: 143,159,391 (GRCm39)	H554P	probably damaging	Het
Serpina3c	T	C	12: 104,117,970 (GRCm39)	R123G	probably benign	Het
Sh3bp4	T	G	1: 89,073,605 (GRCm39)	S818A	probably damaging	Het
Sh3rf3	C	G	10: 58,885,270 (GRCm39)	H384Q	probably benign	Het
Slc9a8	C	T	2: 167,293,090 (GRCm39)		probably benign	Het
Sptbn4	T	C	7: 27,103,678 (GRCm39)	E1181G	probably benign	Het
Taf2	G	A	15: 54,935,402 (GRCm39)		probably benign	Het
Taf7l2	A	T	10: 115,949,133 (GRCm39)	I131N	probably benign	Het
Tbc1d9	A	T	8: 83,976,174 (GRCm39)	M578L	probably benign	Het
Tinagl1	G	T	4: 130,066,763 (GRCm39)	Y111*	probably null	Het
Tor2a	T	C	2: 32,651,697 (GRCm39)	L304P	probably damaging	Het
Trp53bp1	A	G	2: 121,067,304 (GRCm39)	V474A	probably benign	Het
Trrap	C	A	5: 144,723,518 (GRCm39)	A325E	probably damaging	Het
Ube4a	A	G	9: 44,859,322 (GRCm39)		probably null	Het
Use1	G	C	8: 71,822,257 (GRCm39)	K239N	probably damaging	Het
Vps9d1	G	T	8: 123,973,563 (GRCm39)	Q407K	probably benign	Het
Zfp36l1	A	T	12: 80,156,449 (GRCm39)	S311T	possibly damaging	Het
Zfp729b	T	C	13: 67,739,374 (GRCm39)	K964E	probably benign	Het
Zfp974	T	A	7: 27,610,382 (GRCm39)	M448L	probably benign	Het
Zfyve28	A	T	5: 34,374,214 (GRCm39)	V600E	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
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
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'- ATGCGCTGTCAGGATAGGAGTC -3'
(R):5'- GTCTATGCAAACCCTCTCGGAC -3'

Sequencing Primer
(F):5'- TGTCAGGATAGGAGTCACCCC -3'
(R):5'- TCGGACTCTCTCTCAGGC -3'

Posted On

2017-02-28