Mutagenetix > Incidental Mutation

Incidental Mutation 'R7889:Foxo3'

609222

Institutional Source

Beutler Lab

Gene Symbol

Foxo3

Ensembl Gene

ENSMUSG00000048756

Gene Name

forkhead box O3

Synonyms

Fkhr2, 2010203A17Rik, 1110048B16Rik, Foxo3a, FKHRL1

MMRRC Submission

045941-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7889 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42057841-42152691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42151023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 136 (Q136L)

Ref Sequence

ENSEMBL: ENSMUSP00000050683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056974] [ENSMUST00000105501] [ENSMUST00000105502] [ENSMUST00000175881]

AlphaFold

Q9WVH4

Predicted Effect

probably benign
Transcript: ENSMUST00000056974
AA Change: Q136L

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050683
Gene: ENSMUSG00000048756
AA Change: Q136L

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

possibly damaging
Transcript: ENSMUST00000105501
AA Change: Q136L

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101140
Gene: ENSMUSG00000048756
AA Change: Q136L

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	235	6.41e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105502
AA Change: Q136L

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101141
Gene: ENSMUSG00000048756
AA Change: Q136L

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: Q136L

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135380
Gene: ENSMUSG00000048756
AA Change: Q136L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	A	G	3: 37,632,959 (GRCm39)	D855G	probably benign	Het
Angptl3	C	T	4: 98,919,308 (GRCm39)	L23F	probably benign	Het
Art2a	C	T	7: 101,204,418 (GRCm39)	S40N	not run	Het
Ash1l	A	G	3: 88,873,345 (GRCm39)	T43A	probably benign	Het
Atp1a2	G	A	1: 172,105,631 (GRCm39)		probably null	Het
Azi2	A	G	9: 117,890,983 (GRCm39)	E336G	probably benign	Het
Cap2	A	G	13: 46,800,051 (GRCm39)	H419R	probably damaging	Het
Ccdc14	T	A	16: 34,544,206 (GRCm39)	S903T	probably damaging	Het
Cep72	A	T	13: 74,198,241 (GRCm39)	S380T	possibly damaging	Het
Clca3a2	C	A	3: 144,516,574 (GRCm39)	E341*	probably null	Het
Clcnkb	T	G	4: 141,137,915 (GRCm39)	I294L	probably benign	Het
Csnk2a1-ps3	G	A	1: 156,352,965 (GRCm39)	A389T	probably benign	Het
Cyp2d9	T	A	15: 82,340,027 (GRCm39)	M350K	probably damaging	Het
Dhx40	T	G	11: 86,689,793 (GRCm39)	I266L	probably benign	Het
Dnah5	G	T	15: 28,448,560 (GRCm39)	E4208*	probably null	Het
Dync2i1	T	A	12: 116,219,559 (GRCm39)	K128*	probably null	Het
Ephb2	T	C	4: 136,498,353 (GRCm39)	N242S	probably damaging	Het
Fam13b	A	T	18: 34,590,744 (GRCm39)	F478Y	probably benign	Het
Fastkd2	C	G	1: 63,774,619 (GRCm39)		probably null	Het
Fbxo40	T	A	16: 36,790,012 (GRCm39)	D366V	probably damaging	Het
Fhod3	A	T	18: 24,903,551 (GRCm39)	K95M	probably damaging	Het
Gadl1	A	T	9: 115,783,883 (GRCm39)	Q236L	possibly damaging	Het
Galnt13	A	G	2: 55,002,873 (GRCm39)	D560G	probably benign	Het
Ghsr	A	G	3: 27,426,315 (GRCm39)	S124G	probably benign	Het
Gkn2	A	G	6: 87,355,268 (GRCm39)		probably null	Het
Glyctk	T	A	9: 106,033,638 (GRCm39)	R68W	unknown	Het
Gm5157	G	A	7: 20,918,641 (GRCm39)	P301S	unknown	Het
Hdc	A	T	2: 126,458,130 (GRCm39)	I64N	probably damaging	Het
Helq	A	T	5: 100,940,427 (GRCm39)		probably null	Het
Ighv1-43	T	C	12: 114,909,583 (GRCm39)	Y113C	probably damaging	Het
Ipo9	T	C	1: 135,334,591 (GRCm39)	T273A	probably benign	Het
Itga4	G	A	2: 79,146,389 (GRCm39)	V774I	probably benign	Het
Itpr3	T	C	17: 27,335,751 (GRCm39)	L2287P	probably damaging	Het
Llgl1	T	A	11: 60,598,138 (GRCm39)	I394N	probably damaging	Het
Mta1	G	A	12: 113,095,308 (GRCm39)	R487H	probably benign	Het
Neb	T	C	2: 52,037,681 (GRCm39)	D7049G	probably benign	Het
Nlrp4f	G	A	13: 65,342,832 (GRCm39)	S271F	probably damaging	Het
Noxo1	A	G	17: 24,918,356 (GRCm39)	D172G	probably damaging	Het
Nup155	T	A	15: 8,150,991 (GRCm39)	V347E	probably damaging	Het
Oaf	G	T	9: 43,133,968 (GRCm39)	A251E	possibly damaging	Het
Pds5b	T	A	5: 150,715,637 (GRCm39)	F1039I	probably damaging	Het
Pla2g12b	T	A	10: 59,257,062 (GRCm39)		probably null	Het
Prmt3	A	G	7: 49,437,049 (GRCm39)	D208G	possibly damaging	Het
Ptcd3	G	A	6: 71,865,592 (GRCm39)	T441M	probably damaging	Het
Rabl6	A	G	2: 25,474,786 (GRCm39)		probably null	Het
Shtn1	T	A	19: 58,992,328 (GRCm39)	I417F	probably damaging	Het
Slc20a2	T	C	8: 23,030,417 (GRCm39)	S158P	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Spef2	T	C	15: 9,717,649 (GRCm39)	Y232C	probably damaging	Het
Stard9	C	T	2: 120,534,942 (GRCm39)	T3733I	probably benign	Het
Thrap3	A	T	4: 126,071,855 (GRCm39)	F512L	probably benign	Het
Tmem150c	A	T	5: 100,240,963 (GRCm39)	I30K	probably damaging	Het
Tnnt1	C	T	7: 4,511,582 (GRCm39)	A168T	probably damaging	Het
Trak2	A	G	1: 58,957,983 (GRCm39)	L308P	probably damaging	Het
Trp53i11	T	C	2: 93,029,244 (GRCm39)	L81P	probably damaging	Het
Usp16	T	C	16: 87,271,472 (GRCm39)	Y344H	probably benign	Het
Vinac1	T	C	2: 128,878,914 (GRCm39)	E1004G	unknown	Het
Xrcc5	G	T	1: 72,395,985 (GRCm39)	V593L	probably benign	Het
Zcchc14	A	T	8: 122,331,634 (GRCm39)	H576Q	unknown	Het
Zfp616	T	A	11: 73,976,271 (GRCm39)	C847S	probably damaging	Het
Zfp626	A	T	7: 27,518,924 (GRCm39)	Y635F	probably benign	Het
Zfp799	G	A	17: 33,038,473 (GRCm39)	R598*	probably null	Het
Zfp831	A	G	2: 174,487,097 (GRCm39)	K591E	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
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'- ATCCTTGAAGTAGGGCACACAG -3'
(R):5'- AGAGTTCGAGCCACAGAGTC -3'

Sequencing Primer
(F):5'- GCGCACCATCCACTCGTAG -3'
(R):5'- AGACTCCATGATCCCCGAGG -3'

Posted On

2019-12-20