Incidental Mutation 'R3016:Foxo3'
| ID |
265709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxo3
|
| Ensembl Gene |
ENSMUSG00000048756 |
| Gene Name |
forkhead box O3 |
| Synonyms |
Fkhr2, 2010203A17Rik, 1110048B16Rik, Foxo3a, FKHRL1 |
| MMRRC Submission |
040537-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3016 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
42057841-42152691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 42073352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 388
(D388E)
|
| 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: D388E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000050683
Gene: ENSMUSG00000048756
AA Change: D388E
| 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: D388E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101141
Gene: ENSMUSG00000048756
AA Change: D388E
| 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: D388E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135380
Gene: ENSMUSG00000048756
AA Change: D388E
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
T |
C |
11: 69,790,048 (GRCm39) |
D74G |
probably benign |
Het |
| Alkbh8 |
G |
T |
9: 3,369,658 (GRCm39) |
S309I |
probably benign |
Het |
| Asgr2 |
A |
T |
11: 69,996,235 (GRCm39) |
I226F |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,833,208 (GRCm39) |
E1690G |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,513,687 (GRCm39) |
V71A |
probably benign |
Het |
| Gna14 |
A |
T |
19: 16,580,746 (GRCm39) |
I195F |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,869,839 (GRCm39) |
D1463G |
probably damaging |
Het |
| Idi2 |
T |
C |
13: 9,009,466 (GRCm39) |
*228R |
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lag3 |
A |
G |
6: 124,885,429 (GRCm39) |
V317A |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Or2aj4 |
A |
G |
16: 19,385,141 (GRCm39) |
L164P |
probably damaging |
Het |
| Or8g53 |
A |
T |
9: 39,683,979 (GRCm39) |
V39E |
probably benign |
Het |
| Padi3 |
G |
T |
4: 140,513,898 (GRCm39) |
F593L |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,232,766 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
G |
A |
18: 63,175,903 (GRCm39) |
T1826I |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,408,766 (GRCm39) |
A2418T |
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,268,836 (GRCm39) |
M111T |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,193,200 (GRCm39) |
S1901P |
possibly damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,597,405 (GRCm39) |
R588Q |
probably damaging |
Het |
| Tmed6 |
A |
G |
8: 107,792,069 (GRCm39) |
F59L |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,531,757 (GRCm39) |
D431G |
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 |
|
|
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'- AGTCTGAAGCAAGCAGGTC -3'
(R):5'- GGATGACGTCCAGGATGATG -3'
Sequencing Primer
(F):5'- ATAGTCTGCATGGGTGACTGAC -3'
(R):5'- AGGATGATGATGGACCCCTGTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation