Mutagenetix > Incidental Mutation

Incidental Mutation 'R9502:Foxo3'

717650

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 #

R9502 (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: 99.2%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	A	1: 52,964,662 (GRCm39)	H22L	possibly damaging	Het
Abca2	C	A	2: 25,326,895 (GRCm39)	Y590*	probably null	Het
Acot1	G	T	12: 84,061,353 (GRCm39)	E220*	probably null	Het
Acsl5	T	G	19: 55,271,744 (GRCm39)	I292S	probably benign	Het
Acvr1b	C	T	15: 101,092,710 (GRCm39)	H118Y	probably benign	Het
Aggf1	A	G	13: 95,507,450 (GRCm39)	C112R	probably benign	Het
Ap2a2	T	A	7: 141,178,689 (GRCm39)	N105K	probably benign	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Carmil1	T	C	13: 24,323,357 (GRCm39)	T232A	probably benign	Het
Ccser2	A	G	14: 36,631,090 (GRCm39)	F649L	probably benign	Het
Cdcp3	T	C	7: 130,836,815 (GRCm39)	V419A	possibly damaging	Het
Cenpf	G	A	1: 189,388,978 (GRCm39)	T1618I	probably damaging	Het
Ces5a	G	A	8: 94,262,308 (GRCm39)	Q10*	probably null	Het
Cfap20dc	A	G	14: 8,659,452 (GRCm38)	F48L	probably damaging	Het
Cfh	A	T	1: 140,040,320 (GRCm39)	L592Q	possibly damaging	Het
Chchd6	T	C	6: 89,396,763 (GRCm39)	H216R	probably damaging	Het
Chrm5	A	T	2: 112,311,040 (GRCm39)	H25Q	probably damaging	Het
Clasp2	C	T	9: 113,737,866 (GRCm39)	T1080I	probably benign	Het
Clic6	G	T	16: 92,295,588 (GRCm39)	G83C	probably damaging	Het
Coro1c	A	T	5: 113,988,781 (GRCm39)	S187R	probably damaging	Het
Cyp2a4	A	G	7: 26,008,004 (GRCm39)	D137G	probably benign	Het
Ddhd1	G	T	14: 45,894,679 (GRCm39)	Q264K	possibly damaging	Het
Dhdds	A	T	4: 133,707,497 (GRCm39)	Y235N	probably damaging	Het
Ephb1	T	C	9: 101,918,486 (GRCm39)	E341G	probably damaging	Het
Fam53b	T	C	7: 132,361,740 (GRCm39)	D96G	probably benign	Het
Fcgbpl1	A	G	7: 27,836,891 (GRCm39)	D270G	probably benign	Het
Fermt1	G	T	2: 132,781,388 (GRCm39)	R67S	probably benign	Het
Fmnl2	C	A	2: 52,998,312 (GRCm39)	P559H	unknown	Het
Frmpd2	T	A	14: 33,227,404 (GRCm39)	F261I	probably benign	Het
Garem2	T	A	5: 30,321,750 (GRCm39)	L703Q	possibly damaging	Het
Ggct	T	A	6: 54,962,872 (GRCm39)	I180F	possibly damaging	Het
Gigyf2	T	A	1: 87,331,446 (GRCm39)	I198K	unknown	Het
Gucy2d	T	C	7: 98,107,942 (GRCm39)	F700L	probably benign	Het
Gucy2g	T	A	19: 55,198,816 (GRCm39)	I776F	probably damaging	Het
H2ac8	T	C	13: 23,755,045 (GRCm39)	I80V	probably benign	Het
Has1	T	C	17: 18,063,971 (GRCm39)	Y556C	probably damaging	Het
Hecw1	T	C	13: 14,546,567 (GRCm39)	I145V	probably damaging	Het
Helz2	T	A	2: 180,878,245 (GRCm39)	Y851F	possibly damaging	Het
Hes7	C	A	11: 69,013,711 (GRCm39)	P190Q	probably benign	Het
Hivep1	T	C	13: 42,322,779 (GRCm39)	C79R		Het
Hnrnpr	A	G	4: 136,056,681 (GRCm39)	D227G	probably damaging	Het
Hoxb9	C	A	11: 96,162,544 (GRCm39)	F59L	probably benign	Het
Hspb1	A	T	5: 135,917,930 (GRCm39)	H135L	probably benign	Het
Igkv1-122	T	A	6: 67,994,348 (GRCm39)	F79I	probably benign	Het
Igtp	G	C	11: 58,097,800 (GRCm39)	V324L	possibly damaging	Het
Il18r1	G	A	1: 40,528,852 (GRCm39)	A299T	probably benign	Het
Kat14	C	A	2: 144,235,527 (GRCm39)	P329Q	probably damaging	Het
Krt33b	T	A	11: 99,917,315 (GRCm39)	Q179L	probably benign	Het
Lrrk2	C	T	15: 91,607,365 (GRCm39)	A576V	probably damaging	Het
Map3k11	A	G	19: 5,740,624 (GRCm39)	E117G	probably damaging	Het
Mgme1	C	T	2: 144,114,156 (GRCm39)	A86V	probably benign	Het
Mks1	C	A	11: 87,753,766 (GRCm39)	A534E	probably damaging	Het
Mrpl28	T	A	17: 26,343,594 (GRCm39)	I118N	probably damaging	Het
Mrps22	T	A	9: 98,480,219 (GRCm39)	Y102F	probably damaging	Het
Myt1	A	T	2: 181,461,991 (GRCm39)	H1000L	probably damaging	Het
Ncoa5	A	G	2: 164,854,802 (GRCm39)	Y107H	possibly damaging	Het
Nipsnap3a	A	T	4: 52,994,039 (GRCm39)	Y40F	probably benign	Het
Nlrc4	T	A	17: 74,752,580 (GRCm39)	Y601F	probably benign	Het
Obsl1	A	G	1: 75,466,267 (GRCm39)	L1487P	probably damaging	Het
Oit3	A	T	10: 59,264,173 (GRCm39)	N320K	probably damaging	Het
Or1e33	T	C	11: 73,738,825 (GRCm39)	N42S	probably damaging	Het
Or7a38	A	G	10: 78,753,559 (GRCm39)	N295S	probably damaging	Het
Otud4	T	C	8: 80,400,480 (GRCm39)	S1065P	probably benign	Het
P3h1	A	C	4: 119,094,008 (GRCm39)	E221A	possibly damaging	Het
Pgpep1	C	A	8: 71,103,899 (GRCm39)	A124S	probably benign	Het
Pigg	T	A	5: 108,495,782 (GRCm39)	S940T		Het
Proser3	G	T	7: 30,245,587 (GRCm39)	T139K	possibly damaging	Het
Prr36	C	T	8: 4,264,775 (GRCm39)	R297H	unknown	Het
Rai14	A	T	15: 10,587,947 (GRCm39)	F306I	possibly damaging	Het
Rnase13	T	A	14: 52,159,825 (GRCm39)	N105Y	probably damaging	Het
Ros1	A	G	10: 52,000,174 (GRCm39)	I1138T	probably benign	Het
Rsbn1	C	A	3: 103,822,146 (GRCm39)	T127K	possibly damaging	Het
Rsf1	G	GCCGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Rtca	T	C	3: 116,301,413 (GRCm39)	T45A	probably benign	Het
Sema6b	G	T	17: 56,439,500 (GRCm39)	D82E	probably benign	Het
Serpinc1	A	T	1: 160,821,179 (GRCm39)	K209*	probably null	Het
Slc4a1	C	A	11: 102,247,674 (GRCm39)	R403L	probably damaging	Het
Smtn	A	G	11: 3,482,780 (GRCm39)	V92A	possibly damaging	Het
Spag9	T	C	11: 93,959,792 (GRCm39)	V327A	probably damaging	Het
Spdl1	T	C	11: 34,713,283 (GRCm39)	N233S	possibly damaging	Het
Stimate	A	G	14: 30,593,463 (GRCm39)	N189S	probably damaging	Het
Ston2	T	C	12: 91,707,424 (GRCm39)	D62G	possibly damaging	Het
Sult2a5	A	G	7: 13,359,243 (GRCm39)	D73G	probably benign	Het
Ticrr	A	G	7: 79,343,597 (GRCm39)	E1154G	probably benign	Het
Tmem163	A	T	1: 127,480,529 (GRCm39)	M111K	probably damaging	Het
Tmem266	T	C	9: 55,344,973 (GRCm39)	V535A	probably damaging	Het
Tmprss7	T	A	16: 45,484,555 (GRCm39)	D535V	probably damaging	Het
Tmt1a	T	C	15: 100,203,215 (GRCm39)	V163A	probably damaging	Het
Tpcn1	A	C	5: 120,698,390 (GRCm39)	I44S	probably benign	Het
Trbv12-1	T	A	6: 41,090,921 (GRCm39)	F98I	probably damaging	Het
Trhde	A	T	10: 114,636,697 (GRCm39)	V170E	probably damaging	Het
Trpt1	A	T	19: 6,975,578 (GRCm39)	T111S	probably benign	Het
Ttc13	T	C	8: 125,410,010 (GRCm39)	T401A	possibly damaging	Het
Ulbp1	T	C	10: 7,423,260 (GRCm39)	I28V	probably benign	Het
Vldlr	A	T	19: 27,218,742 (GRCm39)	D531V	probably damaging	Het
Vmn2r85	T	A	10: 130,261,387 (GRCm39)	T317S	probably damaging	Het
Vps33a	T	C	5: 123,696,705 (GRCm39)	K316R	probably benign	Het
Vwa3b	A	G	1: 37,099,520 (GRCm39)	N245S	probably damaging	Het
Zfp266	A	T	9: 20,413,413 (GRCm39)	C82*	probably null	Het
Zfp746	T	C	6: 48,041,397 (GRCm39)	K443R	probably 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
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'- AGTCACTCAAGCCCATGTTGC -3'
(R):5'- TCCTTCAACAGTACCGTGTTTG -3'

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

Posted On

2022-07-18