Mutagenetix > Incidental Mutation

Incidental Mutation 'R1558:Foxo3'

170427

Institutional Source

Beutler Lab

Gene Symbol

Foxo3

Ensembl Gene

ENSMUSG00000048756

Gene Name

forkhead box O3

Synonyms

Fkhr2, 2010203A17Rik, 1110048B16Rik, Foxo3a, FKHRL1

MMRRC Submission

039597-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1558 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42057841-42152691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42073068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 483 (V483A)

Ref Sequence

ENSEMBL: ENSMUSP00000135380 (fasta)

Gene Model

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

AlphaFold

Q9WVH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000056974
AA Change: V483A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050683
Gene: ENSMUSG00000048756
AA Change: V483A

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: V483A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101141
Gene: ENSMUSG00000048756
AA Change: V483A

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: V483A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135380
Gene: ENSMUSG00000048756
AA Change: V483A

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: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	A	4: 53,092,887 (GRCm39)	Q299L	probably null	Het
Adamts9	T	G	6: 92,885,692 (GRCm39)	K399N	possibly damaging	Het
Alox12b	T	C	11: 69,056,711 (GRCm39)	F369S	probably damaging	Het
Alpk2	A	G	18: 65,483,301 (GRCm39)	Y236H	probably benign	Het
Ankrd36	T	C	11: 5,585,329 (GRCm39)	L380P	probably damaging	Het
Atp2a1	C	T	7: 126,051,844 (GRCm39)	A468T	possibly damaging	Het
Caprin1	A	T	2: 103,606,332 (GRCm39)	F303I	possibly damaging	Het
Casp7	A	T	19: 56,421,684 (GRCm39)	R41*	probably null	Het
Ccdc66	T	A	14: 27,208,463 (GRCm39)	H753L	probably benign	Het
Ccnc	T	C	4: 21,742,671 (GRCm39)	M166T	probably benign	Het
Cdkl3	T	A	11: 51,923,337 (GRCm39)	M538K	possibly damaging	Het
Cemip2	T	A	19: 21,775,346 (GRCm39)	Y196*	probably null	Het
Cercam	G	A	2: 29,766,251 (GRCm39)	A345T	probably benign	Het
Chmp3	T	A	6: 71,537,954 (GRCm39)	C60*	probably null	Het
Ddx1	C	T	12: 13,289,542 (GRCm39)	G125S	probably damaging	Het
Defb7	A	G	8: 19,547,567 (GRCm39)	D24G	probably benign	Het
Dgcr8	A	T	16: 18,077,452 (GRCm39)	Y653N	probably damaging	Het
Dsc2	T	C	18: 20,183,208 (GRCm39)	D70G	probably damaging	Het
Erich3	T	G	3: 154,419,705 (GRCm39)	N266K	probably damaging	Het
Fastk	A	T	5: 24,649,045 (GRCm39)		probably null	Het
Fat4	A	G	3: 38,943,135 (GRCm39)	N676S	probably damaging	Het
Fermt1	A	T	2: 132,776,739 (GRCm39)		probably null	Het
Fmn1	A	G	2: 113,523,463 (GRCm39)	T1149A	possibly damaging	Het
Fpgs	T	C	2: 32,575,852 (GRCm39)	T364A	possibly damaging	Het
Gm12185	A	G	11: 48,806,262 (GRCm39)	S310P	probably damaging	Het
Gm15056	A	T	8: 21,391,949 (GRCm39)		probably benign	Het
Hcn1	T	C	13: 118,112,112 (GRCm39)	V692A	unknown	Het
Izumo3	A	C	4: 92,035,140 (GRCm39)	C26G	probably damaging	Het
Kcnf1	T	C	12: 17,225,474 (GRCm39)	Y249C	probably damaging	Het
Kcnj6	T	C	16: 94,563,358 (GRCm39)	E380G	possibly damaging	Het
Kdm3b	A	G	18: 34,942,149 (GRCm39)	T747A	probably damaging	Het
Lrba	G	A	3: 86,258,622 (GRCm39)	G1370R	probably damaging	Het
Mei1	G	A	15: 81,991,334 (GRCm39)	R504Q	probably damaging	Het
Mgat4f	G	A	1: 134,318,512 (GRCm39)	G428D	probably damaging	Het
Mipol1	T	C	12: 57,379,127 (GRCm39)	I195T	probably damaging	Het
Ncor2	G	A	5: 125,110,610 (GRCm39)	T1350I	probably damaging	Het
Npy	A	G	6: 49,800,705 (GRCm39)	E43G	probably damaging	Het
Or4e5	T	A	14: 52,727,603 (GRCm39)	I273F	probably benign	Het
Or5w19	T	A	2: 87,698,459 (GRCm39)	N41K	probably damaging	Het
Or8d2	T	A	9: 38,760,200 (GRCm39)	N263K	probably benign	Het
Pcdhb3	T	C	18: 37,434,634 (GRCm39)	L200P	probably damaging	Het
Pcnt	G	A	10: 76,258,756 (GRCm39)	H570Y	possibly damaging	Het
Phf8-ps	T	A	17: 33,284,679 (GRCm39)	I708F	probably benign	Het
Pkd1l2	A	C	8: 117,808,991 (GRCm39)	D66E	possibly damaging	Het
Plekhg4	A	G	8: 106,108,467 (GRCm39)	D1170G	possibly damaging	Het
Poln	T	A	5: 34,190,143 (GRCm39)	H672L	probably benign	Het
Ptprq	T	C	10: 107,479,904 (GRCm39)	Y1122C	probably damaging	Het
Ptrhd1	A	G	12: 4,286,505 (GRCm39)	Y132C	probably damaging	Het
Pwwp3a	G	T	10: 80,068,778 (GRCm39)	R307S	probably benign	Het
Riok1	G	T	13: 38,234,831 (GRCm39)	R300L	probably damaging	Het
Sbf2	G	T	7: 110,027,553 (GRCm39)	T481K	probably damaging	Het
Sidt2	A	T	9: 45,863,098 (GRCm39)	M11K	probably damaging	Het
Slc66a1	A	T	4: 139,027,391 (GRCm39)		probably benign	Het
Syne1	G	A	10: 5,299,280 (GRCm39)	R992*	probably null	Het
Tmem8b	C	A	4: 43,681,134 (GRCm39)	R384S	possibly damaging	Het
Trim28	T	C	7: 12,761,761 (GRCm39)	Y243H	probably damaging	Het
Trpm6	T	C	19: 18,764,192 (GRCm39)	M266T	probably benign	Het
Tsg101	A	T	7: 46,539,437 (GRCm39)	S368T	probably damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Ttc6	G	A	12: 57,733,132 (GRCm39)	V1092I	probably benign	Het
Vps13b	C	T	15: 35,534,465 (GRCm39)	T927I	probably damaging	Het
Zfr	C	T	15: 12,140,730 (GRCm39)	T259I	unknown	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
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
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'- GCTGACAGAATTTGACAAGGCACG -3'
(R):5'- ACGACCTGCTGGATAACATCGC -3'

Sequencing Primer
(F):5'- AAGAGCGCCCTGGGTTTG -3'
(R):5'- TGGATAACATCGCGCTCC -3'

Posted On

2014-04-13