Mutagenetix > Incidental Mutations

Incidental Mutation 'R8511:Foxg1'

655891

Institutional Source

Beutler Lab

Gene Symbol

Foxg1

Ensembl Gene

ENSMUSG00000020950

Gene Name

forkhead box G1

Synonyms

Hfh9, BF-1, 2900064B05Rik, Hfhbf1, Bf1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8511 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49382660-49386861 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 49385085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 200 (Y200*)

Ref Sequence

ENSEMBL: ENSMUSP00000021333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021333] [ENSMUST00000179669]

AlphaFold

Q60987

Predicted Effect

probably null
Transcript: ENSMUST00000021333
AA Change: Y200*

SMART Domains

Protein: ENSMUSP00000021333
Gene: ENSMUSG00000020950
AA Change: Y200*

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

probably null
Transcript: ENSMUST00000179669
AA Change: Y200*

SMART Domains

Protein: ENSMUSP00000136372
Gene: ENSMUSG00000020950
AA Change: Y200*

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	T	C	11: 11,590,056	H186R	unknown	Het
4931409K22Rik	T	A	5: 24,545,908	H559L	possibly damaging	Het
6430548M08Rik	A	G	8: 120,152,562	N233S	probably benign	Het
Acan	A	G	7: 79,097,935	D818G	possibly damaging	Het
Adam22	G	A	5: 8,134,558	T478I	probably damaging	Het
Agmo	T	A	12: 37,244,397	*115R	probably null	Het
Ahnak	A	G	19: 9,012,355	K3668E	unknown	Het
Aldh6a1	G	A	12: 84,433,971	T430I	possibly damaging	Het
Ankrd11	T	C	8: 122,899,729	D17G		Het
Apol10b	C	G	15: 77,585,010	E322D	probably benign	Het
Apol10b	T	C	15: 77,585,011	E322G	probably benign	Het
Apol8	C	T	15: 77,750,073	G101E	probably benign	Het
Arhgef26	A	T	3: 62,428,929	M630L	probably damaging	Het
Aspm	T	C	1: 139,457,308	L230P	probably damaging	Het
Atg101	T	C	15: 101,290,622	S203P	probably damaging	Het
Baz2b	T	A	2: 59,901,814	T1996S	probably benign	Het
Brwd1	A	T	16: 96,058,738	M350K	probably damaging	Het
Cad	A	G	5: 31,075,821	K1869R	probably benign	Het
Caskin1	A	T	17: 24,505,936	I1233F	probably benign	Het
Ckap5	T	A	2: 91,615,147	L1770I	possibly damaging	Het
Clip1	T	C	5: 123,653,906	N67S	possibly damaging	Het
Csmd2	A	G	4: 128,368,899	N626S		Het
Cuedc2	C	A	19: 46,330,919		probably null	Het
Dmbt1	A	T	7: 131,102,012	N1275Y	unknown	Het
Dnm3	A	G	1: 162,286,042	V483A	possibly damaging	Het
Dock9	A	T	14: 121,627,389	H718Q	probably benign	Het
Dock9	T	C	14: 121,681,435	D50G	probably damaging	Het
Egfr	T	G	11: 16,896,949	I782S	probably damaging	Het
Elmod1	A	T	9: 53,912,811	F298I	probably damaging	Het
Enthd1	T	C	15: 80,474,227	Q364R	probably damaging	Het
Fat2	T	A	11: 55,309,237	S1004C	probably damaging	Het
Fga	A	T	3: 83,031,757	K480*	probably null	Het
Fhod3	A	G	18: 25,132,937	T1561A	probably damaging	Het
Foxj2	C	T	6: 122,831,445	R115*	probably null	Het
Ggnbp2	C	T	11: 84,837,989		probably null	Het
Gm15922	A	G	7: 3,739,348	L60P	probably damaging	Het
Gpsm2	A	G	3: 108,682,083	S580P	probably benign	Het
Hectd1	A	G	12: 51,787,871	S870P	probably benign	Het
Hic2	T	A	16: 17,258,010	N234K	possibly damaging	Het
Ica1	A	G	6: 8,754,726	F15L	probably benign	Het
Immp1l	G	A	2: 105,930,755	R3H	probably benign	Het
Jak3	T	A	8: 71,685,550	Y882N	probably damaging	Het
Klk1b1	C	T	7: 43,970,343	R109C	possibly damaging	Het
Luzp1	A	G	4: 136,541,339	D291G	probably damaging	Het
Map3k19	C	T	1: 127,847,418	E61K	possibly damaging	Het
Mical3	A	G	6: 121,038,552	I175T	possibly damaging	Het
Nectin3	G	A	16: 46,464,000	P107L	probably damaging	Het
Olfr975	A	G	9: 39,950,159	V204A	probably benign	Het
Polr1a	C	A	6: 71,920,520	H207N	probably benign	Het
Prokr2	A	G	2: 132,381,502	V40A	probably benign	Het
Prtg	T	C	9: 72,890,874		probably null	Het
Ptprs	G	A	17: 56,447,440	T200I	probably damaging	Het
Ramp3	C	T	11: 6,676,709	R139C	probably benign	Het
Scfd2	A	G	5: 74,212,288	V642A	possibly damaging	Het
Scn11a	T	C	9: 119,789,915	K787R	probably damaging	Het
Slco3a1	A	G	7: 74,303,242	V523A	probably benign	Het
Smo	A	G	6: 29,755,532	Y401C	probably damaging	Het
Spata5	A	G	3: 37,436,748	M481V	probably damaging	Het
Stmn2	A	G	3: 8,509,555		probably benign	Het
Stra6l	G	T	4: 45,885,347	G605V	probably benign	Het
Syne2	A	G	12: 76,008,873	I4170V	probably benign	Het
Tgm7	T	A	2: 121,093,660	I594F	probably damaging	Het
Tle2	T	C	10: 81,587,996	L648P	probably damaging	Het
Tmprss2	G	T	16: 97,568,462	L371I	possibly damaging	Het
Ttn	T	C	2: 76,749,522	R23676G	probably damaging	Het
Tvp23b	T	C	11: 62,883,737	I69T	possibly damaging	Het
Vmn2r66	A	T	7: 85,006,818	I330N	probably damaging	Het
Vmn2r99	A	T	17: 19,394,181	D721V	probably damaging	Het
Zan	A	T	5: 137,446,846	V1717E	unknown	Het
Zmiz2	C	T	11: 6,403,190	H658Y	probably damaging	Het

Other mutations in Foxg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Foxg1	APN	12	49385620	missense	possibly damaging	0.94
IGL02629:Foxg1	APN	12	49385548	missense	probably benign	0.02
R0267:Foxg1	UTSW	12	49385582	missense	probably damaging	1.00
R0486:Foxg1	UTSW	12	49384531	unclassified	probably benign
R0646:Foxg1	UTSW	12	49384567	unclassified	probably benign
R2110:Foxg1	UTSW	12	49384925	unclassified	probably benign
R3784:Foxg1	UTSW	12	49385599	missense	probably benign	0.04
R4198:Foxg1	UTSW	12	49385299	missense	possibly damaging	0.81
R4199:Foxg1	UTSW	12	49385299	missense	possibly damaging	0.81
R4200:Foxg1	UTSW	12	49385299	missense	possibly damaging	0.81
R4360:Foxg1	UTSW	12	49384692	small deletion	probably benign
R5044:Foxg1	UTSW	12	49385186	missense	probably damaging	1.00
R6053:Foxg1	UTSW	12	49385378	missense	possibly damaging	0.62
R6277:Foxg1	UTSW	12	49385516	missense	probably benign	0.06
R6485:Foxg1	UTSW	12	49385080	missense	probably damaging	1.00
R6979:Foxg1	UTSW	12	49384784	unclassified	probably benign
R7033:Foxg1	UTSW	12	49384720	unclassified	probably benign
R8156:Foxg1	UTSW	12	49384646	missense	unknown
R8193:Foxg1	UTSW	12	49385594	missense	possibly damaging	0.83
R8789:Foxg1	UTSW	12	49385360	missense	probably benign	0.43
R8909:Foxg1	UTSW	12	49384692	small deletion	probably benign
R8958:Foxg1	UTSW	12	49385161	missense	probably damaging	1.00
R9228:Foxg1	UTSW	12	49384537	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGACGCACTTGGAGCCAAAG -3'
(R):5'- AACTCAAAGTGCTGCTGGCG -3'

Sequencing Primer
(F):5'- TCGGGCCGGACGAGAAG -3'
(R):5'- GCGCTTAAAGGCCAGCTTG -3'

Posted On

2020-10-20