Mutagenetix > Incidental Mutations

Incidental Mutation 'R5044:Foxg1'

394270

Institutional Source

Beutler Lab

Gene Symbol

Foxg1

Ensembl Gene

ENSMUSG00000020950

Gene Name

forkhead box G1

Synonyms

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

MMRRC Submission

042634-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49382660-49386861 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49385186 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 234 (V234A)

Ref Sequence

ENSEMBL: ENSMUSP00000136372 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021333
AA Change: V234A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021333
Gene: ENSMUSG00000020950
AA Change: V234A

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

unknown
Transcript: ENSMUST00000110746
AA Change: V4A

SMART Domains

Protein: ENSMUSP00000106374
Gene: ENSMUSG00000089922
AA Change: V4A

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: V234A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136372
Gene: ENSMUSG00000020950
AA Change: V234A

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

Meta Mutation Damage Score

0.7959

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (73/76)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,323	F3387I	possibly damaging	Het
Acacb	T	A	5: 114,166,027	S170R	probably benign	Het
Adamtsl4	A	G	3: 95,681,650		probably null	Het
Adgrv1	A	G	13: 81,488,931	C3464R	probably benign	Het
Apbb1	A	T	7: 105,565,682		probably benign	Het
Cad	A	G	5: 31,055,021	T23A	probably benign	Het
Cdca7	A	G	2: 72,483,415	R183G	probably benign	Het
Cdpf1	T	C	15: 85,809,312	T5A	probably benign	Het
Cep85	T	C	4: 134,156,179	D133G	probably damaging	Het
Chrna9	T	C	5: 65,971,016	L189P	probably damaging	Het
Clca1	A	C	3: 145,007,928		probably null	Het
Cntn1	G	T	15: 92,242,995	V201F	probably damaging	Het
Col4a3	A	G	1: 82,666,546	E352G	unknown	Het
Ddhd2	T	C	8: 25,752,137	Y237C	probably damaging	Het
Dnah6	A	C	6: 73,037,622	F3609V	probably benign	Het
Epha3	T	C	16: 63,602,287	K580R	possibly damaging	Het
Fam135b	T	C	15: 71,462,711	N878S	probably benign	Het
Fam71e2	T	C	7: 4,758,661	N351D	probably benign	Het
Fbn1	T	G	2: 125,329,102	T1938P	probably damaging	Het
Glt1d1	A	T	5: 127,644,414	N55I	probably benign	Het
Gm17641	C	A	3: 68,869,474		probably benign	Het
Gm7665	A	G	18: 16,274,731		noncoding transcript	Het
Hgf	A	C	5: 16,614,894	N541T	probably benign	Het
Hipk2	G	A	6: 38,818,879	P152S	probably benign	Het
Jarid2	C	T	13: 44,906,565	L720F	probably damaging	Het
Kifc5b	A	G	17: 26,924,787	E511G	probably damaging	Het
Ldlr	G	A	9: 21,735,242	A235T	probably benign	Het
Lmln	A	G	16: 33,074,180	D231G	possibly damaging	Het
Lrp1	A	G	10: 127,567,495	C2070R	probably damaging	Het
Mbl1	A	G	14: 41,158,724	T190A	possibly damaging	Het
Mpdz	A	T	4: 81,381,697	S355T	probably benign	Het
Muc19	C	T	15: 91,888,138		noncoding transcript	Het
Mycbp2	A	C	14: 103,139,235		probably null	Het
Naa20	T	C	2: 145,915,842	S164P	probably damaging	Het
Nme4	A	T	17: 26,093,833		probably benign	Het
Npas2	A	T	1: 39,347,506	R619*	probably null	Het
Nudt19	G	A	7: 35,555,746	T20I	possibly damaging	Het
Olfr1224-ps1	T	A	2: 89,156,939	K79*	probably null	Het
Olfr1447	A	G	19: 12,901,001	Y260H	probably damaging	Het
Pitpnc1	A	G	11: 107,296,228	Y90H	possibly damaging	Het
Rcor2	A	G	19: 7,269,785	T6A	probably benign	Het
Rif1	T	A	2: 52,109,928	S1131R	probably damaging	Het
Rtkn	T	A	6: 83,150,991	D377E	probably benign	Het
Rtn4rl2	T	A	2: 84,872,502	N242I	probably damaging	Het
Sbno2	G	A	10: 80,062,188	L719F	probably benign	Het
Scn11a	G	T	9: 119,819,831	D55E	probably damaging	Het
Setd1b	T	A	5: 123,151,866	I632N	unknown	Het
Spaca6	A	G	17: 17,831,196	T45A	probably benign	Het
Srpk2	A	T	5: 23,524,392	D416E	possibly damaging	Het
Sspo	A	T	6: 48,466,955		probably null	Het
Sycp1	A	T	3: 102,845,054	I804N	probably benign	Het
Tdp2	G	A	13: 24,831,826	R32Q	probably benign	Het
Tgfbr3	A	G	5: 107,136,929	V618A	possibly damaging	Het
Tmc3	C	T	7: 83,609,118	P439S	probably benign	Het
Tnxb	A	T	17: 34,717,483	D2740V	probably damaging	Het
Tspyl4	A	G	10: 34,297,937	T142A	probably benign	Het
Ttn	T	C	2: 76,880,441		probably benign	Het
Tubgcp4	T	C	2: 121,173,580	L34P	probably damaging	Het
Tubgcp6	G	T	15: 89,099,545		probably benign	Het
Unc79	T	A	12: 103,112,703	V1690E	probably benign	Het
Vps4b	T	C	1: 106,796,418		probably null	Het
Wtap	A	G	17: 12,967,638	S341P	possibly damaging	Het
Wwc1	T	C	11: 35,883,345	T363A	probably benign	Het
Zbtb8a	G	A	4: 129,360,500	T67M	probably damaging	Het
Zfp865	T	C	7: 5,034,669		probably benign	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
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

Predicted Primers

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

Sequencing Primer
(F):5'- GCGCTCATCATGATGGCCATC -3'
(R):5'- CGCGGTCCATGAAGGTGAG -3'

Posted On

2016-06-15