Incidental Mutation 'R3784:Foxg1'
| ID |
272183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxg1
|
| Ensembl Gene |
ENSMUSG00000020950 |
| Gene Name |
forkhead box G1 |
| Synonyms |
BF-1, Hfhbf1, Hfh9, Bf1, 2900064B05Rik |
| MMRRC Submission |
040876-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3784 (G1)
|
| Quality Score |
172 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
49429666-49433650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49432382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 372
(T372A)
|
| 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: T372A
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000021333
Gene: ENSMUSG00000020950
AA Change: T372A
| 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: T142A
|
| SMART Domains |
Protein: ENSMUSP00000106374
Gene: ENSMUSG00000089922
AA Change: T142A
| 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: T372A
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000136372
Gene: ENSMUSG00000020950
AA Change: T372A
| 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 |
0.1010 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (44/44) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 3110082I17Rik |
G |
T |
5: 139,441,197 (GRCm39) |
P35Q |
probably damaging |
Het |
| Adam11 |
T |
C |
11: 102,665,193 (GRCm39) |
|
probably null |
Het |
| Ank2 |
A |
G |
3: 126,746,842 (GRCm39) |
L581P |
probably damaging |
Het |
| Armc2 |
T |
C |
10: 41,798,190 (GRCm39) |
I779V |
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 60,011,415 (GRCm39) |
Y965N |
probably damaging |
Het |
| C3 |
A |
G |
17: 57,533,067 (GRCm39) |
V146A |
probably damaging |
Het |
| Cfap206 |
A |
T |
4: 34,716,445 (GRCm39) |
I340N |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,386,295 (GRCm39) |
D145G |
probably damaging |
Het |
| Drosha |
A |
G |
15: 12,890,615 (GRCm39) |
D954G |
possibly damaging |
Het |
| Fam161b |
A |
T |
12: 84,408,464 (GRCm39) |
|
probably null |
Het |
| Fat2 |
C |
T |
11: 55,147,012 (GRCm39) |
A3995T |
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
| Hook1 |
T |
C |
4: 95,877,888 (GRCm39) |
F55L |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,019,328 (GRCm39) |
K986R |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
| Klra8 |
T |
A |
6: 130,102,018 (GRCm39) |
D139V |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,998,298 (GRCm39) |
Y20C |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Ncoa6 |
G |
A |
2: 155,249,677 (GRCm39) |
T1209I |
probably damaging |
Het |
| Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,509,551 (GRCm39) |
D633G |
probably damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,607,294 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
T |
A |
1: 194,326,925 (GRCm39) |
D286E |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Prmt7 |
C |
A |
8: 106,968,768 (GRCm39) |
Q361K |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,537,238 (GRCm39) |
|
probably benign |
Het |
| Psg27 |
T |
A |
7: 18,294,279 (GRCm39) |
Q376L |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rad51b |
C |
T |
12: 79,347,419 (GRCm39) |
Q28* |
probably null |
Het |
| Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Senp6 |
T |
G |
9: 79,999,568 (GRCm39) |
I74S |
probably benign |
Het |
| Spats2l |
A |
G |
1: 57,924,938 (GRCm39) |
E112G |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
| Taf15 |
G |
A |
11: 83,397,248 (GRCm39) |
D313N |
unknown |
Het |
| Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
| Tubb6 |
A |
G |
18: 67,526,063 (GRCm39) |
T72A |
possibly damaging |
Het |
| Txndc16 |
A |
T |
14: 45,403,343 (GRCm39) |
V32E |
probably damaging |
Het |
| Vmn1r200 |
A |
T |
13: 22,580,025 (GRCm39) |
Y276F |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTTTGAGTTACAACGGGAC -3'
(R):5'- TAAAGACTCACAGGGCAGGGTC -3'
Sequencing Primer
(F):5'- GACCACGTCGGCCTACC -3'
(R):5'- TAGAGGAGGACGCGGCC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation