Incidental Mutation 'R8156:Foxg1'
| ID |
633330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxg1
|
| Ensembl Gene |
ENSMUSG00000020950 |
| Gene Name |
forkhead box G1 |
| Synonyms |
BF-1, Hfhbf1, Hfh9, Bf1, 2900064B05Rik |
| MMRRC Submission |
067582-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8156 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
49429666-49433650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49431429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 54
(H54R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021333]
[ENSMUST00000179669]
|
| AlphaFold |
Q60987 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021333
AA Change: H54R
|
| SMART Domains |
Protein: ENSMUSP00000021333
Gene: ENSMUSG00000020950
AA Change: H54R
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106374
Gene: ENSMUSG00000089922
| 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 |
unknown
Transcript: ENSMUST00000179669
AA Change: H54R
|
| SMART Domains |
Protein: ENSMUSP00000136372
Gene: ENSMUSG00000020950
AA Change: H54R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
95% (40/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
T |
C |
11: 120,489,074 (GRCm39) |
R31G |
probably benign |
Het |
| Arfgef2 |
GTGTGCAGAAACT |
GT |
2: 166,676,383 (GRCm39) |
92 |
probably null |
Het |
| Arhgap31 |
G |
T |
16: 38,445,991 (GRCm39) |
A118E |
probably damaging |
Het |
| Asb5 |
T |
A |
8: 55,003,541 (GRCm39) |
I21K |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,546,760 (GRCm39) |
I515V |
probably benign |
Het |
| Bend7 |
C |
T |
2: 4,757,665 (GRCm39) |
P236S |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,566,824 (GRCm39) |
T351A |
probably benign |
Het |
| Cd1d2 |
T |
A |
3: 86,894,569 (GRCm39) |
|
probably null |
Het |
| Chd1 |
T |
A |
17: 15,981,666 (GRCm39) |
D1368E |
probably benign |
Het |
| Chrnb3 |
A |
G |
8: 27,883,682 (GRCm39) |
I140V |
probably benign |
Het |
| Cip2a |
A |
G |
16: 48,817,825 (GRCm39) |
D65G |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,432,625 (GRCm39) |
T843A |
possibly damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,986,317 (GRCm39) |
|
probably null |
Het |
| Dop1a |
A |
G |
9: 86,376,510 (GRCm39) |
D248G |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,723,388 (GRCm39) |
C197* |
probably null |
Het |
| Flg2 |
T |
C |
3: 93,127,390 (GRCm39) |
S2101P |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr35 |
A |
G |
1: 92,910,437 (GRCm39) |
T50A |
probably damaging |
Het |
| Gsta3 |
A |
T |
1: 21,330,322 (GRCm39) |
Y108F |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,886,138 (GRCm39) |
A811E |
probably damaging |
Het |
| Hephl1 |
A |
T |
9: 14,972,210 (GRCm39) |
V910E |
possibly damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,780,280 (GRCm39) |
Y384F |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,733,686 (GRCm39) |
I2210M |
unknown |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,992,196 (GRCm39) |
|
probably null |
Het |
| Lsm4 |
G |
A |
8: 71,131,018 (GRCm39) |
G112S |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,464,554 (GRCm39) |
|
probably null |
Het |
| Ndor1 |
T |
C |
2: 25,138,746 (GRCm39) |
R396G |
probably benign |
Het |
| Or10ag56 |
A |
C |
2: 87,139,318 (GRCm39) |
I82L |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Prdm2 |
A |
G |
4: 142,861,338 (GRCm39) |
S651P |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,909,172 (GRCm39) |
M91V |
probably benign |
Het |
| Pskh1 |
G |
A |
8: 106,640,226 (GRCm39) |
R302H |
probably benign |
Het |
| Rab11fip4 |
A |
G |
11: 79,577,415 (GRCm39) |
T390A |
probably benign |
Het |
| Snx10 |
T |
C |
6: 51,538,999 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
T |
C |
10: 23,847,393 (GRCm39) |
C264R |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,737,138 (GRCm39) |
C1438R |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,173,486 (GRCm39) |
T3A |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,609,975 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
A |
G |
9: 114,342,192 (GRCm39) |
S697P |
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,269,057 (GRCm39) |
D258G |
probably damaging |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,183 (GRCm39) |
Y9H |
probably damaging |
Het |
| Zfp995 |
T |
A |
17: 22,099,115 (GRCm39) |
H373L |
probably 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 |
|
|
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 |
|
|
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'- TTGCTACATGCCTTGCCAG -3'
(R):5'- ATGAGCGCGTTGTAGCTGAAC -3'
Sequencing Primer
(F):5'- TCCAACTGCGCTGCTGC -3'
(R):5'- CTTTGGCTCCAAGTGCGTCAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation