Incidental Mutation 'R4198:Foxg1'
| ID |
318646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxg1
|
| Ensembl Gene |
ENSMUSG00000020950 |
| Gene Name |
forkhead box G1 |
| Synonyms |
BF-1, Hfhbf1, Hfh9, Bf1, 2900064B05Rik |
| MMRRC Submission |
041640-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4198 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
49429666-49433650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49432082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 272
(S272T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021333]
[ENSMUST00000179669]
|
| AlphaFold |
Q60987 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021333
AA Change: S272T
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021333
Gene: ENSMUSG00000020950
AA Change: S272T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
134 |
N/A |
INTRINSIC |
|
FH
|
171 |
261 |
6.85e-63 |
SMART |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110746
AA Change: S42T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106374
Gene: ENSMUSG00000089922
AA Change: S42T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154930
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179669
AA Change: S272T
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136372
Gene: ENSMUSG00000020950
AA Change: S272T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
134 |
N/A |
INTRINSIC |
|
FH
|
171 |
261 |
6.85e-63 |
SMART |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218927
|
| Meta Mutation Damage Score |
0.1912 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the forked-head transcription factor family. The encoded protein, which functions as a repressor, may play a role in brain development. Mutations at this locus have been associated with Rett syndrome. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutants exhibit dramatically reduced cerebral hemispheres, missing ventral telencephalic structures, impaired migration of efferent thalamocortical axons, and multiple eye defects. Mutants die at birth from respiratory failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
G |
A |
1: 58,124,766 (GRCm39) |
M1002I |
probably benign |
Het |
| Ap2b1 |
C |
A |
11: 83,233,429 (GRCm39) |
Q481K |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,444,275 (GRCm39) |
A194V |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,463,434 (GRCm39) |
D989G |
probably damaging |
Het |
| Ccny |
G |
A |
18: 9,332,928 (GRCm39) |
T201I |
probably damaging |
Het |
| Cdca5 |
T |
C |
19: 6,140,382 (GRCm39) |
V181A |
possibly damaging |
Het |
| Ces1g |
A |
G |
8: 94,032,496 (GRCm39) |
I488T |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,404,717 (GRCm39) |
T2368A |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,315,702 (GRCm39) |
I1113F |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Fyco1 |
T |
C |
9: 123,655,699 (GRCm39) |
N1020D |
probably benign |
Het |
| Gprc5c |
T |
G |
11: 114,754,686 (GRCm39) |
L121R |
probably damaging |
Het |
| Hyou1 |
G |
A |
9: 44,300,156 (GRCm39) |
R815H |
probably damaging |
Het |
| Kera |
T |
C |
10: 97,448,835 (GRCm39) |
*352Q |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lnpk |
T |
C |
2: 74,399,453 (GRCm39) |
E30G |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,464,457 (GRCm39) |
R128C |
probably damaging |
Het |
| Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,025 (GRCm39) |
M79L |
probably benign |
Het |
| Or2y11 |
G |
A |
11: 49,443,461 (GRCm39) |
V296M |
possibly damaging |
Het |
| Or51h7 |
A |
G |
7: 102,591,004 (GRCm39) |
F260S |
probably damaging |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Ror2 |
A |
G |
13: 53,264,680 (GRCm39) |
M792T |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,657 (GRCm39) |
|
probably null |
Het |
| Serpinb9d |
A |
G |
13: 33,386,948 (GRCm39) |
I339V |
probably benign |
Het |
| Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
| Snx20 |
A |
G |
8: 89,354,226 (GRCm39) |
V168A |
possibly damaging |
Het |
| Sowaha |
T |
C |
11: 53,369,395 (GRCm39) |
E447G |
possibly damaging |
Het |
| Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 98,110,114 (GRCm39) |
|
probably benign |
Het |
| Stx19 |
G |
T |
16: 62,643,039 (GRCm39) |
C285F |
possibly damaging |
Het |
| Syp |
A |
G |
X: 7,506,166 (GRCm39) |
|
probably null |
Het |
| Tbkbp1 |
C |
T |
11: 97,039,894 (GRCm39) |
|
probably null |
Het |
| Trim29 |
G |
T |
9: 43,222,677 (GRCm39) |
E169* |
probably null |
Het |
| Ttll12 |
T |
C |
15: 83,461,214 (GRCm39) |
N602D |
probably damaging |
Het |
| Zfp26 |
T |
C |
9: 20,348,012 (GRCm39) |
T851A |
probably benign |
Het |
| Zfp316 |
T |
C |
5: 143,240,226 (GRCm39) |
M598V |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,685,125 (GRCm39) |
I165V |
probably benign |
Het |
|
| Other mutations in Foxg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:Foxg1
|
APN |
12 |
49,432,403 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02629:Foxg1
|
APN |
12 |
49,432,331 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0267:Foxg1
|
UTSW |
12 |
49,432,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0486:Foxg1
|
UTSW |
12 |
49,431,314 (GRCm39) |
unclassified |
probably benign |
|
|
R0646:Foxg1
|
UTSW |
12 |
49,431,350 (GRCm39) |
unclassified |
probably benign |
|
|
R2110:Foxg1
|
UTSW |
12 |
49,431,708 (GRCm39) |
unclassified |
probably benign |
|
|
R3784:Foxg1
|
UTSW |
12 |
49,432,382 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4199:Foxg1
|
UTSW |
12 |
49,432,082 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4200:Foxg1
|
UTSW |
12 |
49,432,082 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4360:Foxg1
|
UTSW |
12 |
49,431,475 (GRCm39) |
small deletion |
probably benign |
|
|
R5044:Foxg1
|
UTSW |
12 |
49,431,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Foxg1
|
UTSW |
12 |
49,432,161 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6277:Foxg1
|
UTSW |
12 |
49,432,299 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6485:Foxg1
|
UTSW |
12 |
49,431,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6979:Foxg1
|
UTSW |
12 |
49,431,567 (GRCm39) |
unclassified |
probably benign |
|
|
R7033:Foxg1
|
UTSW |
12 |
49,431,503 (GRCm39) |
unclassified |
probably benign |
|
|
R8156:Foxg1
|
UTSW |
12 |
49,431,429 (GRCm39) |
missense |
unknown |
|
|
R8193:Foxg1
|
UTSW |
12 |
49,432,377 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8511:Foxg1
|
UTSW |
12 |
49,431,868 (GRCm39) |
nonsense |
probably null |
|
|
R8789:Foxg1
|
UTSW |
12 |
49,432,143 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8909:Foxg1
|
UTSW |
12 |
49,431,475 (GRCm39) |
small deletion |
probably benign |
|
|
R8958:Foxg1
|
UTSW |
12 |
49,431,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Foxg1
|
UTSW |
12 |
49,431,320 (GRCm39) |
missense |
unknown |
|
|
R9584:Foxg1
|
UTSW |
12 |
49,432,406 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGAACTTCCCCTACTACCG -3'
(R):5'- GAGTCAACACGGAGCTGTAG -3'
Sequencing Primer
(F):5'- TACTACCGCGAGAACAAGCAGG -3'
(R):5'- CACGGAGCTGTAGGGCATG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation