Incidental Mutation 'R4360:Foxg1'
| ID |
324865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxg1
|
| Ensembl Gene |
ENSMUSG00000020950 |
| Gene Name |
forkhead box G1 |
| Synonyms |
BF-1, Hfhbf1, Hfh9, Bf1, 2900064B05Rik |
| MMRRC Submission |
041111-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4360 (G1)
|
| Quality Score |
135 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
49429666-49433650 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CCAGCAGCAGCAGCAGCAGC to CCAGCAGCAGCAGCAGC
at 49431475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021333]
[ENSMUST00000179669]
|
| AlphaFold |
Q60987 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021333
|
| SMART Domains |
Protein: ENSMUSP00000021333
Gene: ENSMUSG00000020950
| 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 benign
Transcript: ENSMUST00000179669
|
| SMART Domains |
Protein: ENSMUSP00000136372
Gene: ENSMUSG00000020950
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (50/50) |
| 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 |
|---|
| 4930578I07Rik |
T |
C |
14: 67,175,850 (GRCm39) |
|
noncoding transcript |
Het |
| Adgra3 |
T |
C |
5: 50,147,552 (GRCm39) |
E496G |
possibly damaging |
Het |
| Atg14 |
C |
G |
14: 47,805,827 (GRCm39) |
E13Q |
probably benign |
Het |
| BC023105 |
G |
T |
18: 60,575,073 (GRCm39) |
|
noncoding transcript |
Het |
| Chd6 |
A |
G |
2: 160,791,776 (GRCm39) |
V2527A |
possibly damaging |
Het |
| Csn1s2a |
G |
T |
5: 87,929,700 (GRCm39) |
V100L |
possibly damaging |
Het |
| Fah |
G |
A |
7: 84,238,856 (GRCm39) |
L330F |
probably damaging |
Het |
| Fmo2 |
T |
C |
1: 162,709,583 (GRCm39) |
N268S |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,606,052 (GRCm39) |
H287L |
probably damaging |
Het |
| G2e3 |
T |
A |
12: 51,410,197 (GRCm39) |
|
probably benign |
Het |
| Gm1758 |
A |
T |
16: 14,324,215 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7204 |
T |
C |
16: 48,039,196 (GRCm39) |
|
noncoding transcript |
Het |
| Gm829 |
T |
C |
4: 45,718,819 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa14 |
A |
G |
2: 3,503,560 (GRCm39) |
V116A |
possibly damaging |
Het |
| Hspa4 |
T |
C |
11: 53,155,919 (GRCm39) |
Y662C |
probably damaging |
Het |
| Islr |
T |
A |
9: 58,064,887 (GRCm39) |
N207Y |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,759,864 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,106,036 (GRCm39) |
S1546P |
probably damaging |
Het |
| Or13a25 |
T |
C |
7: 140,247,730 (GRCm39) |
F170L |
probably damaging |
Het |
| Or56a3 |
A |
C |
7: 104,735,460 (GRCm39) |
E179A |
probably damaging |
Het |
| Or7g18 |
G |
A |
9: 18,787,013 (GRCm39) |
C127Y |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,866,661 (GRCm39) |
D1075G |
possibly damaging |
Het |
| Pkp2 |
A |
G |
16: 16,086,546 (GRCm39) |
I736V |
probably benign |
Het |
| Plekha8 |
T |
C |
6: 54,599,171 (GRCm39) |
I235T |
probably benign |
Het |
| Polq |
A |
G |
16: 36,880,701 (GRCm39) |
D955G |
probably benign |
Het |
| Pramel16 |
A |
G |
4: 143,677,433 (GRCm39) |
F49L |
possibly damaging |
Het |
| Psmd1 |
A |
G |
1: 86,061,459 (GRCm39) |
K890E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scpep1 |
A |
G |
11: 88,821,070 (GRCm39) |
Y366H |
possibly damaging |
Het |
| Slc18a3 |
A |
G |
14: 32,185,882 (GRCm39) |
V167A |
probably benign |
Het |
| Sp8 |
A |
G |
12: 118,812,400 (GRCm39) |
D85G |
possibly damaging |
Het |
| Stard3nl |
G |
A |
13: 19,554,654 (GRCm39) |
S144L |
probably damaging |
Het |
| Stk4 |
A |
G |
2: 163,930,879 (GRCm39) |
E160G |
possibly damaging |
Het |
| Tbcb |
T |
C |
7: 29,926,460 (GRCm39) |
N119S |
probably benign |
Het |
| Tnc |
G |
T |
4: 63,935,161 (GRCm39) |
R592S |
probably benign |
Het |
| Trem3 |
T |
A |
17: 48,556,801 (GRCm39) |
S91T |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,610,267 (GRCm39) |
E245G |
probably benign |
Het |
| Usp40 |
C |
T |
1: 87,880,083 (GRCm39) |
R1036H |
probably damaging |
Het |
| Usp47 |
G |
T |
7: 111,654,139 (GRCm39) |
G112C |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,024,149 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
G |
12: 98,746,456 (GRCm39) |
K555R |
probably benign |
Het |
| Zfp26 |
T |
C |
9: 20,349,869 (GRCm39) |
S232G |
probably benign |
Het |
| Zfp811 |
T |
C |
17: 33,017,432 (GRCm39) |
T202A |
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 |
|
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 |
|
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'- GATTCCCAAGTCCTCGTTCAGC -3'
(R):5'- TGAGCGCGTTGTAGCTGAAC -3'
Sequencing Primer
(F):5'- GTTCAGCATCAACAGCCTGGTC -3'
(R):5'- TGAACGGCGGCTTCTCGTAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation