Incidental Mutation 'R8168:Foxf1'
| ID |
633909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxf1
|
| Ensembl Gene |
ENSMUSG00000042812 |
| Gene Name |
forkhead box F1 |
| Synonyms |
Foxf1a, HFH-8, Freac-1, Foxf1, Hfh8, FREAC1 |
| MMRRC Submission |
067594-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8168 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
121811125-121814883 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121811901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 255
(V255A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127664]
[ENSMUST00000181504]
|
| AlphaFold |
Q61080 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181504
AA Change: V255A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137662
Gene: ENSMUSG00000042812
AA Change: V255A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
42 |
N/A |
INTRINSIC |
|
FH
|
46 |
136 |
6.02e-59 |
SMART |
|
low complexity region
|
137 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
276 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (44/44) |
| 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 is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in mid-gestation lethality, defects in extraembryonic and lateral plate mesoderm differentiation, failure of embryo turning, absence of yolk sac and allantois vasculogenesis, retarded somite and posterior embryo development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,816,857 (GRCm39) |
I652T |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,624,831 (GRCm39) |
T862A |
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,560,983 (GRCm39) |
S404P |
possibly damaging |
Het |
| Catsperz |
A |
G |
19: 6,900,020 (GRCm39) |
S162P |
possibly damaging |
Het |
| Cfap410 |
G |
A |
10: 77,818,778 (GRCm39) |
A150T |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,744,739 (GRCm39) |
S2170T |
unknown |
Het |
| Copa |
A |
T |
1: 171,927,239 (GRCm39) |
H204L |
probably damaging |
Het |
| Cwc22 |
A |
C |
2: 77,757,615 (GRCm39) |
V171G |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,007,646 (GRCm39) |
|
probably null |
Het |
| Flrt1 |
G |
A |
19: 7,074,002 (GRCm39) |
L182F |
probably damaging |
Het |
| Gnptab |
G |
T |
10: 88,254,995 (GRCm39) |
A194S |
probably benign |
Het |
| Gzf1 |
C |
T |
2: 148,526,686 (GRCm39) |
R386C |
probably damaging |
Het |
| H2-Aa |
T |
A |
17: 34,506,695 (GRCm39) |
T16S |
possibly damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,389,282 (GRCm39) |
F52S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,040,300 (GRCm39) |
N2154S |
probably benign |
Het |
| Ifi207 |
A |
C |
1: 173,557,504 (GRCm39) |
S411R |
probably benign |
Het |
| Jcad |
A |
T |
18: 4,675,094 (GRCm39) |
D952V |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,639,999 (GRCm39) |
W65R |
probably null |
Het |
| Mef2c |
G |
T |
13: 83,804,469 (GRCm39) |
L356F |
probably damaging |
Het |
| Mrgprb2 |
A |
T |
7: 48,201,767 (GRCm39) |
S319R |
probably benign |
Het |
| Mtrr |
C |
T |
13: 68,720,732 (GRCm39) |
V288I |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,711,968 (GRCm39) |
I713N |
probably damaging |
Het |
| Nelfa |
A |
T |
5: 34,079,251 (GRCm39) |
N107K |
possibly damaging |
Het |
| Nim1k |
A |
T |
13: 120,174,288 (GRCm39) |
V202D |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,752,206 (GRCm39) |
T726A |
probably benign |
Het |
| Or4p8 |
T |
A |
2: 88,727,120 (GRCm39) |
M274L |
probably benign |
Het |
| Or9m1 |
T |
A |
2: 87,733,543 (GRCm39) |
H159L |
probably damaging |
Het |
| Phaf1 |
C |
T |
8: 105,975,401 (GRCm39) |
P330L |
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,258,263 (GRCm39) |
A514T |
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,331,601 (GRCm39) |
E357D |
unknown |
Het |
| Ptp4a3 |
T |
G |
15: 73,628,695 (GRCm39) |
Y152D |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,538,779 (GRCm39) |
C389R |
unknown |
Het |
| Rcc1 |
T |
C |
4: 132,063,096 (GRCm39) |
E170G |
probably benign |
Het |
| Spag17 |
C |
T |
3: 99,942,300 (GRCm39) |
T775M |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,141,695 (GRCm39) |
V1825D |
probably damaging |
Het |
| Tshr |
T |
A |
12: 91,478,739 (GRCm39) |
H195Q |
probably benign |
Het |
| Vmn1r174 |
A |
T |
7: 23,454,096 (GRCm39) |
D254V |
probably damaging |
Het |
| Vps13a |
A |
C |
19: 16,726,912 (GRCm39) |
I244M |
probably benign |
Het |
|
| Other mutations in Foxf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02040:Foxf1
|
APN |
8 |
121,812,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02113:Foxf1
|
APN |
8 |
121,811,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03167:Foxf1
|
APN |
8 |
121,811,647 (GRCm39) |
nonsense |
probably null |
|
|
R0359:Foxf1
|
UTSW |
8 |
121,811,742 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0621:Foxf1
|
UTSW |
8 |
121,811,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1523:Foxf1
|
UTSW |
8 |
121,811,297 (GRCm39) |
splice site |
probably null |
|
|
R4854:Foxf1
|
UTSW |
8 |
121,813,553 (GRCm39) |
missense |
probably benign |
|
|
R5435:Foxf1
|
UTSW |
8 |
121,811,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6423:Foxf1
|
UTSW |
8 |
121,811,834 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7582:Foxf1
|
UTSW |
8 |
121,811,430 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7853:Foxf1
|
UTSW |
8 |
121,811,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8095:Foxf1
|
UTSW |
8 |
121,813,551 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8841:Foxf1
|
UTSW |
8 |
121,811,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9232:Foxf1
|
UTSW |
8 |
121,811,715 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Foxf1
|
UTSW |
8 |
121,811,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Foxf1
|
UTSW |
8 |
121,811,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTGGCTGGCAACGTGGAC -3'
(R):5'- CAAGATCGGTTCACAGTGGC -3'
Sequencing Primer
(F):5'- GCAACGTGGACGGCATG -3'
(R):5'- TCACAGTGGCTGTCATGGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation