Incidental Mutation 'R6485:Foxg1'
| ID |
517312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxg1
|
| Ensembl Gene |
ENSMUSG00000020950 |
| Gene Name |
forkhead box G1 |
| Synonyms |
BF-1, Hfhbf1, Hfh9, Bf1, 2900064B05Rik |
| MMRRC Submission |
044617-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6485 (G1)
|
| Quality Score |
214.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
49429666-49433650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49431863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 199
(I199F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021333]
[ENSMUST00000179669]
|
| AlphaFold |
Q60987 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021333
AA Change: I199F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021333
Gene: ENSMUSG00000020950
AA Change: I199F
| 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 |
noncoding transcript
Transcript: ENSMUST00000127041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154930
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179669
AA Change: I199F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136372
Gene: ENSMUSG00000020950
AA Change: I199F
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
A |
7: 120,026,390 (GRCm39) |
Y117* |
probably null |
Het |
| Acot5 |
A |
T |
12: 84,122,258 (GRCm39) |
R281W |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,241,852 (GRCm39) |
T719A |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,223,429 (GRCm39) |
T867A |
probably benign |
Het |
| Bcl2a1c |
T |
C |
9: 114,159,278 (GRCm39) |
Y19H |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,974,459 (GRCm39) |
I2285T |
possibly damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,559,655 (GRCm39) |
Y755C |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,396,474 (GRCm39) |
T816A |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,320,294 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,954,069 (GRCm39) |
|
probably null |
Het |
| Cpd |
T |
C |
11: 76,699,533 (GRCm39) |
|
probably null |
Het |
| Crispld2 |
A |
G |
8: 120,756,048 (GRCm39) |
D339G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,333,610 (GRCm39) |
D7046G |
probably damaging |
Het |
| Erbin |
G |
T |
13: 104,004,621 (GRCm39) |
Q136K |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,287,991 (GRCm39) |
E1691K |
possibly damaging |
Het |
| Fads6 |
A |
G |
11: 115,176,264 (GRCm39) |
F187S |
probably benign |
Het |
| Garem1 |
T |
C |
18: 21,262,894 (GRCm39) |
D640G |
probably benign |
Het |
| Gba2 |
A |
C |
4: 43,574,118 (GRCm39) |
Y112D |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,916,528 (GRCm39) |
I323T |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gria4 |
T |
A |
9: 4,464,249 (GRCm39) |
Y571F |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
| Lonrf1 |
A |
G |
8: 36,696,288 (GRCm39) |
|
probably null |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,525 (GRCm39) |
N70S |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,300,473 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,903,850 (GRCm39) |
D375G |
probably damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,600 (GRCm39) |
Q143R |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,225,164 (GRCm39) |
S1780* |
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,335,735 (GRCm39) |
|
probably null |
Het |
| Pgd |
A |
T |
4: 149,240,876 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
T |
C |
15: 79,191,572 (GRCm39) |
I279V |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,665,131 (GRCm39) |
C297* |
probably null |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
T |
C |
10: 85,793,508 (GRCm39) |
I22V |
probably benign |
Het |
| Slc25a30 |
G |
T |
14: 76,012,447 (GRCm39) |
A67E |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,506,612 (GRCm39) |
V605A |
possibly damaging |
Het |
| Ush1c |
A |
T |
7: 45,858,534 (GRCm39) |
S585T |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,657,414 (GRCm39) |
D1785G |
probably damaging |
Het |
| Zic5 |
T |
A |
14: 122,697,052 (GRCm39) |
Y521F |
unknown |
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 |
|
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'- TGACGCACTTGGAGCCAAAG -3'
(R):5'- AACTCAAAGTGCTGCTGGC -3'
Sequencing Primer
(F):5'- TCGGGCCGGACGAGAAG -3'
(R):5'- GCGCTTAAAGGCCAGCTTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation