Incidental Mutation 'IGL02629:Foxg1'
ID |
301209 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Foxg1
|
Ensembl Gene |
ENSMUSG00000020950 |
Gene Name |
forkhead box G1 |
Synonyms |
BF-1, Hfhbf1, Hfh9, Bf1, 2900064B05Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02629
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
49429666-49433650 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49432331 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 355
(S355G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136372
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021333]
[ENSMUST00000179669]
|
AlphaFold |
Q60987 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021333
AA Change: S355G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000021333 Gene: ENSMUSG00000020950 AA Change: S355G
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 |
unknown
Transcript: ENSMUST00000110746
AA Change: S125G
|
SMART Domains |
Protein: ENSMUSP00000106374 Gene: ENSMUSG00000089922 AA Change: S125G
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 |
probably benign
Transcript: ENSMUST00000179669
AA Change: S355G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000136372 Gene: ENSMUSG00000020950 AA Change: S355G
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
|
Coding Region Coverage |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
C |
10: 100,445,006 (GRCm39) |
|
probably benign |
Het |
Aadacl3 |
A |
G |
4: 144,190,199 (GRCm39) |
I34T |
possibly damaging |
Het |
Acan |
T |
A |
7: 78,761,727 (GRCm39) |
I1979N |
possibly damaging |
Het |
Ankrd27 |
A |
G |
7: 35,325,121 (GRCm39) |
D701G |
probably benign |
Het |
Arhgap31 |
C |
T |
16: 38,429,526 (GRCm39) |
G450S |
probably benign |
Het |
Braf |
T |
C |
6: 39,665,233 (GRCm39) |
E45G |
possibly damaging |
Het |
Btnl6 |
C |
T |
17: 34,733,442 (GRCm39) |
V178M |
probably damaging |
Het |
Capg |
A |
T |
6: 72,532,737 (GRCm39) |
Q67L |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,736,525 (GRCm39) |
N663S |
probably damaging |
Het |
Casz1 |
T |
A |
4: 149,028,848 (GRCm39) |
S1098T |
probably benign |
Het |
Cd55b |
A |
T |
1: 130,347,535 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,384,531 (GRCm39) |
L2583P |
probably damaging |
Het |
Clec4a1 |
A |
C |
6: 122,909,106 (GRCm39) |
|
probably null |
Het |
Corin |
T |
C |
5: 72,490,016 (GRCm39) |
N653S |
probably damaging |
Het |
Dhx36 |
T |
C |
3: 62,414,155 (GRCm39) |
E69G |
probably benign |
Het |
Dpy19l1 |
C |
A |
9: 24,350,009 (GRCm39) |
|
probably benign |
Het |
Fam184a |
T |
C |
10: 53,574,907 (GRCm39) |
N234S |
possibly damaging |
Het |
Fsd1l |
T |
C |
4: 53,686,417 (GRCm39) |
S277P |
probably damaging |
Het |
Hadh |
T |
A |
3: 131,029,284 (GRCm39) |
D245V |
probably damaging |
Het |
Jag2 |
G |
A |
12: 112,878,134 (GRCm39) |
|
probably benign |
Het |
Klhl18 |
A |
T |
9: 110,259,006 (GRCm39) |
|
probably benign |
Het |
Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
Mcoln2 |
A |
G |
3: 145,875,799 (GRCm39) |
Y89C |
probably benign |
Het |
Mug1 |
A |
T |
6: 121,817,024 (GRCm39) |
Y31F |
possibly damaging |
Het |
Ndufb5 |
A |
G |
3: 32,791,348 (GRCm39) |
T32A |
probably benign |
Het |
Nub1 |
C |
T |
5: 24,908,462 (GRCm39) |
H404Y |
possibly damaging |
Het |
Nudt6 |
A |
G |
3: 37,459,320 (GRCm39) |
Y222H |
probably benign |
Het |
Or4x6 |
A |
T |
2: 89,949,201 (GRCm39) |
L247* |
probably null |
Het |
Pla2g4c |
A |
T |
7: 13,069,302 (GRCm39) |
R159* |
probably null |
Het |
Pnpla7 |
A |
G |
2: 24,940,957 (GRCm39) |
D1103G |
probably damaging |
Het |
Pof1b |
T |
G |
X: 111,554,934 (GRCm39) |
|
probably benign |
Het |
Prrg2 |
C |
T |
7: 44,706,166 (GRCm39) |
|
probably null |
Het |
Rab3gap1 |
A |
G |
1: 127,837,600 (GRCm39) |
T221A |
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,526,541 (GRCm39) |
N1244D |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rnf123 |
A |
T |
9: 107,947,988 (GRCm39) |
|
probably benign |
Het |
Rnf44 |
T |
G |
13: 54,830,875 (GRCm39) |
Q207P |
possibly damaging |
Het |
Serpina3g |
A |
G |
12: 104,207,437 (GRCm39) |
D200G |
probably damaging |
Het |
Slc5a4a |
T |
A |
10: 75,983,413 (GRCm39) |
S17T |
unknown |
Het |
Smc4 |
G |
T |
3: 68,933,206 (GRCm39) |
C609F |
probably damaging |
Het |
Sync |
T |
C |
4: 129,187,744 (GRCm39) |
F259L |
probably damaging |
Het |
Tas2r113 |
T |
C |
6: 132,870,299 (GRCm39) |
L109P |
probably damaging |
Het |
Tjp2 |
C |
A |
19: 24,099,743 (GRCm39) |
|
probably benign |
Het |
Tmem30a |
C |
A |
9: 79,683,531 (GRCm39) |
|
probably benign |
Het |
Unc80 |
T |
C |
1: 66,522,476 (GRCm39) |
V226A |
possibly damaging |
Het |
Upk2 |
A |
T |
9: 44,365,436 (GRCm39) |
L44Q |
probably damaging |
Het |
Usp42 |
T |
C |
5: 143,708,909 (GRCm39) |
Y203C |
possibly damaging |
Het |
Vmn1r28 |
A |
T |
6: 58,242,801 (GRCm39) |
I215F |
probably benign |
Het |
Zswim2 |
A |
G |
2: 83,755,553 (GRCm39) |
V116A |
possibly damaging |
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 |
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 |
R4198:Foxg1
|
UTSW |
12 |
49,432,082 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
|
Posted On |
2015-04-16 |