Incidental Mutation 'IGL02647:Foxf2'
| ID |
301987 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Foxf2
|
| Ensembl Gene |
ENSMUSG00000038402 |
| Gene Name |
forkhead box F2 |
| Synonyms |
FREAC2, LUN, Fkh20 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02647
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
31809799-31815386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31811218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 386
(N386Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042054]
|
| AlphaFold |
O54743 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042054
AA Change: N386Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046789
Gene: ENSMUSG00000038402
AA Change: N386Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
94 |
N/A |
INTRINSIC |
|
FH
|
98 |
188 |
6.02e-59 |
SMART |
|
low complexity region
|
189 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
328 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221582
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice do not live through the first day of life due to an inability to suckle, which is secondary to cleft palate and tongue abnormalities. Mice homozygous for an ENU mutation exhibit postnatal lethality without palate defect and abnormal anterior segment dysgenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
T |
14: 29,712,847 (GRCm39) |
R497W |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bmx |
T |
C |
X: 162,988,231 (GRCm39) |
E495G |
probably damaging |
Het |
| Cbx5 |
T |
C |
15: 103,109,330 (GRCm39) |
|
probably null |
Het |
| Cenpj |
C |
T |
14: 56,767,536 (GRCm39) |
V1203M |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,783,672 (GRCm39) |
H516R |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,078,611 (GRCm39) |
N1235S |
probably damaging |
Het |
| Depdc1a |
A |
T |
3: 159,228,503 (GRCm39) |
K418N |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,114,355 (GRCm39) |
V1215M |
probably damaging |
Het |
| Flacc1 |
T |
C |
1: 58,709,613 (GRCm39) |
T181A |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,919,991 (GRCm39) |
V455E |
probably damaging |
Het |
| Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
| Hnmt |
G |
A |
2: 23,904,319 (GRCm39) |
S114F |
possibly damaging |
Het |
| Irf3 |
A |
G |
7: 44,649,800 (GRCm39) |
N6S |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,267,038 (GRCm39) |
D1576G |
probably benign |
Het |
| Lsg1 |
A |
T |
16: 30,404,370 (GRCm39) |
|
probably null |
Het |
| Mal2 |
T |
C |
15: 54,451,833 (GRCm39) |
F85L |
probably damaging |
Het |
| Me2 |
A |
C |
18: 73,930,974 (GRCm39) |
S106R |
probably benign |
Het |
| Med21 |
T |
C |
6: 146,550,731 (GRCm39) |
S81P |
probably benign |
Het |
| Mos |
T |
C |
4: 3,870,961 (GRCm39) |
Y285C |
probably damaging |
Het |
| Mtmr1 |
A |
G |
X: 70,436,939 (GRCm39) |
N256S |
probably damaging |
Het |
| Or7e174 |
T |
A |
9: 20,012,505 (GRCm39) |
M150K |
probably benign |
Het |
| Prl3d2 |
A |
C |
13: 27,309,999 (GRCm39) |
T155P |
probably benign |
Het |
| R3hdm2 |
C |
T |
10: 127,295,353 (GRCm39) |
S240L |
probably damaging |
Het |
| Semp2l2a |
T |
C |
8: 13,886,979 (GRCm39) |
T371A |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,985,088 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,992,326 (GRCm39) |
S1933P |
probably damaging |
Het |
| Veph1 |
A |
T |
3: 66,066,869 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,922,905 (GRCm39) |
F557S |
probably damaging |
Het |
| Zfp647 |
T |
C |
15: 76,801,915 (GRCm39) |
E30G |
probably damaging |
Het |
| Zfp655 |
A |
T |
5: 145,179,816 (GRCm39) |
I75L |
probably benign |
Het |
| Zfp981 |
C |
A |
4: 146,621,709 (GRCm39) |
Y211* |
probably null |
Het |
|
| Other mutations in Foxf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Foxf2
|
APN |
13 |
31,810,172 (GRCm39) |
missense |
unknown |
|
|
IGL01939:Foxf2
|
APN |
13 |
31,810,697 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02012:Foxf2
|
APN |
13 |
31,810,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03275:Foxf2
|
APN |
13 |
31,810,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0517:Foxf2
|
UTSW |
13 |
31,810,226 (GRCm39) |
missense |
unknown |
|
|
R0812:Foxf2
|
UTSW |
13 |
31,811,188 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2005:Foxf2
|
UTSW |
13 |
31,810,124 (GRCm39) |
missense |
unknown |
|
|
R2090:Foxf2
|
UTSW |
13 |
31,810,824 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3724:Foxf2
|
UTSW |
13 |
31,814,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Foxf2
|
UTSW |
13 |
31,810,871 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4757:Foxf2
|
UTSW |
13 |
31,810,172 (GRCm39) |
missense |
unknown |
|
|
R5049:Foxf2
|
UTSW |
13 |
31,811,158 (GRCm39) |
missense |
probably benign |
|
|
R5303:Foxf2
|
UTSW |
13 |
31,810,463 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5874:Foxf2
|
UTSW |
13 |
31,810,775 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6983:Foxf2
|
UTSW |
13 |
31,811,180 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7309:Foxf2
|
UTSW |
13 |
31,810,496 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7635:Foxf2
|
UTSW |
13 |
31,810,087 (GRCm39) |
missense |
unknown |
|
|
R7773:Foxf2
|
UTSW |
13 |
31,811,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8266:Foxf2
|
UTSW |
13 |
31,810,361 (GRCm39) |
small insertion |
probably benign |
|
|
R9033:Foxf2
|
UTSW |
13 |
31,810,085 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation