Mutagenetix > Incidental Mutation

Incidental Mutation 'R8511:Foxg1'

655891

Institutional Source

Beutler Lab

Gene Symbol

Foxg1

Ensembl Gene

ENSMUSG00000020950

Gene Name

forkhead box G1

Synonyms

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

MMRRC Submission

067888-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8511 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49429666-49433650 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 49431868 bp (GRCm39)

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: 11,540,056 (GRCm39)	H186R	unknown	Het
6430548M08Rik	A	G	8: 120,879,301 (GRCm39)	N233S	probably benign	Het
Acan	A	G	7: 78,747,683 (GRCm39)	D818G	possibly damaging	Het
Adam22	G	A	5: 8,184,558 (GRCm39)	T478I	probably damaging	Het
Afg2a	A	G	3: 37,490,897 (GRCm39)	M481V	probably damaging	Het
Agmo	T	A	12: 37,294,396 (GRCm39)	*115R	probably null	Het
Ahnak	A	G	19: 8,989,719 (GRCm39)	K3668E	unknown	Het
Aldh6a1	G	A	12: 84,480,745 (GRCm39)	T430I	possibly damaging	Het
Ankrd11	T	C	8: 123,626,468 (GRCm39)	D17G		Het
Apol10b	T	C	15: 77,469,211 (GRCm39)	E322G	probably benign	Het
Apol10b	C	G	15: 77,469,210 (GRCm39)	E322D	probably benign	Het
Apol8	C	T	15: 77,634,273 (GRCm39)	G101E	probably benign	Het
Arhgef26	A	T	3: 62,336,350 (GRCm39)	M630L	probably damaging	Het
Aspm	T	C	1: 139,385,046 (GRCm39)	L230P	probably damaging	Het
Atg101	T	C	15: 101,188,503 (GRCm39)	S203P	probably damaging	Het
Baz2b	T	A	2: 59,732,158 (GRCm39)	T1996S	probably benign	Het
Brwd1	A	T	16: 95,859,938 (GRCm39)	M350K	probably damaging	Het
Cad	A	G	5: 31,233,165 (GRCm39)	K1869R	probably benign	Het
Caskin1	A	T	17: 24,724,910 (GRCm39)	I1233F	probably benign	Het
Ckap5	T	A	2: 91,445,492 (GRCm39)	L1770I	possibly damaging	Het
Clip1	T	C	5: 123,791,969 (GRCm39)	N67S	possibly damaging	Het
Csmd2	A	G	4: 128,262,692 (GRCm39)	N626S		Het
Cuedc2	C	A	19: 46,319,358 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,703,742 (GRCm39)	N1275Y	unknown	Het
Dnm3	A	G	1: 162,113,611 (GRCm39)	V483A	possibly damaging	Het
Dock9	A	T	14: 121,864,801 (GRCm39)	H718Q	probably benign	Het
Dock9	T	C	14: 121,918,847 (GRCm39)	D50G	probably damaging	Het
Egfr	T	G	11: 16,846,949 (GRCm39)	I782S	probably damaging	Het
Elmod1	A	T	9: 53,820,095 (GRCm39)	F298I	probably damaging	Het
Enthd1	T	C	15: 80,358,428 (GRCm39)	Q364R	probably damaging	Het
Fat2	T	A	11: 55,200,063 (GRCm39)	S1004C	probably damaging	Het
Fga	A	T	3: 82,939,064 (GRCm39)	K480*	probably null	Het
Fhod3	A	G	18: 25,265,994 (GRCm39)	T1561A	probably damaging	Het
Foxj2	C	T	6: 122,808,404 (GRCm39)	R115*	probably null	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gpsm2	A	G	3: 108,589,399 (GRCm39)	S580P	probably benign	Het
Hectd1	A	G	12: 51,834,654 (GRCm39)	S870P	probably benign	Het
Hic2	T	A	16: 17,075,874 (GRCm39)	N234K	possibly damaging	Het
Ica1	A	G	6: 8,754,726 (GRCm39)	F15L	probably benign	Het
Immp1l	G	A	2: 105,761,100 (GRCm39)	R3H	probably benign	Het
Iqca1l	T	A	5: 24,750,906 (GRCm39)	H559L	possibly damaging	Het
Jak3	T	A	8: 72,138,194 (GRCm39)	Y882N	probably damaging	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Luzp1	A	G	4: 136,268,650 (GRCm39)	D291G	probably damaging	Het
Map3k19	C	T	1: 127,775,155 (GRCm39)	E61K	possibly damaging	Het
Mical3	A	G	6: 121,015,513 (GRCm39)	I175T	possibly damaging	Het
Nectin3	G	A	16: 46,284,363 (GRCm39)	P107L	probably damaging	Het
Or10d5	A	G	9: 39,861,455 (GRCm39)	V204A	probably benign	Het
Pira1	A	G	7: 3,742,347 (GRCm39)	L60P	probably damaging	Het
Polr1a	C	A	6: 71,897,504 (GRCm39)	H207N	probably benign	Het
Prokr2	A	G	2: 132,223,422 (GRCm39)	V40A	probably benign	Het
Prtg	T	C	9: 72,798,156 (GRCm39)		probably null	Het
Ptprs	G	A	17: 56,754,440 (GRCm39)	T200I	probably damaging	Het
Ramp3	C	T	11: 6,626,709 (GRCm39)	R139C	probably benign	Het
Scfd2	A	G	5: 74,372,949 (GRCm39)	V642A	possibly damaging	Het
Scn11a	T	C	9: 119,618,981 (GRCm39)	K787R	probably damaging	Het
Slco3a1	A	G	7: 73,952,990 (GRCm39)	V523A	probably benign	Het
Smo	A	G	6: 29,755,531 (GRCm39)	Y401C	probably damaging	Het
Stmn2	A	G	3: 8,574,615 (GRCm39)		probably benign	Het
Stra6l	G	T	4: 45,885,347 (GRCm39)	G605V	probably benign	Het
Syne2	A	G	12: 76,055,647 (GRCm39)	I4170V	probably benign	Het
Tgm7	T	A	2: 120,924,141 (GRCm39)	I594F	probably damaging	Het
Tle2	T	C	10: 81,423,830 (GRCm39)	L648P	probably damaging	Het
Tmprss2	G	T	16: 97,369,662 (GRCm39)	L371I	possibly damaging	Het
Ttn	T	C	2: 76,579,866 (GRCm39)	R23676G	probably damaging	Het
Tvp23b	T	C	11: 62,774,563 (GRCm39)	I69T	possibly damaging	Het
Vmn2r66	A	T	7: 84,656,026 (GRCm39)	I330N	probably damaging	Het
Vmn2r99	A	T	17: 19,614,443 (GRCm39)	D721V	probably damaging	Het
Zan	A	T	5: 137,445,108 (GRCm39)	V1717E	unknown	Het
Zmiz2	C	T	11: 6,353,190 (GRCm39)	H658Y	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
R8156:Foxg1	UTSW	12	49,431,429 (GRCm39)	missense	unknown
R8193:Foxg1	UTSW	12	49,432,377 (GRCm39)	missense	possibly damaging	0.83
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'- AACTCAAAGTGCTGCTGGCG -3'

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

Posted On

2020-10-20