Incidental Mutation 'R0267:Foxg1'
ID 35016
Institutional Source Beutler Lab
Gene Symbol Foxg1
Ensembl Gene ENSMUSG00000020950
Gene Name forkhead box G1
Synonyms BF-1, Hfhbf1, Hfh9, Bf1, 2900064B05Rik
MMRRC Submission 038493-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0267 (G1)
Quality Score 176
Status Validated
Chromosome 12
Chromosomal Location 49429666-49433650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49432365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 366 (Y366C)
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: Y366C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021333
Gene: ENSMUSG00000020950
AA Change: Y366C

DomainStartEndE-ValueType
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: Y136C
SMART Domains Protein: ENSMUSP00000106374
Gene: ENSMUSG00000089922
AA Change: Y136C

DomainStartEndE-ValueType
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: Y366C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136372
Gene: ENSMUSG00000020950
AA Change: Y366C

DomainStartEndE-ValueType
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 0.1443 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.7%
  • 10x: 96.2%
  • 20x: 94.0%
Validation Efficiency 97% (64/66)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,046,105 (GRCm39) F1721S probably damaging Het
Adgrb1 G A 15: 74,401,238 (GRCm39) R78H probably damaging Het
Adgrd1 G A 5: 129,216,658 (GRCm39) A342T probably benign Het
Adrb1 A T 19: 56,711,923 (GRCm39) K374* probably null Het
Aldh18a1 C A 19: 40,562,233 (GRCm39) V264F probably benign Het
Aldh1l2 C T 10: 83,358,551 (GRCm39) probably benign Het
Alox15 T A 11: 70,236,979 (GRCm39) H393L probably damaging Het
Aox1 A G 1: 58,378,605 (GRCm39) probably benign Het
Appbp2 T C 11: 85,092,288 (GRCm39) Y297C probably damaging Het
Atxn2l T G 7: 126,092,379 (GRCm39) Q950P probably damaging Het
Bicd1 A T 6: 149,418,540 (GRCm39) D737V probably damaging Het
C9 T C 15: 6,496,939 (GRCm39) I212T probably benign Het
Ccdc63 A T 5: 122,255,107 (GRCm39) probably benign Het
Chst1 C A 2: 92,443,951 (GRCm39) P141Q probably damaging Het
Cped1 T A 6: 22,119,475 (GRCm39) F311L probably damaging Het
D6Wsu163e T A 6: 126,923,454 (GRCm39) H113Q probably benign Het
Dcn A T 10: 97,342,345 (GRCm39) probably benign Het
Dmbx1 C T 4: 115,775,309 (GRCm39) A324T probably benign Het
Dock10 G T 1: 80,490,171 (GRCm39) Q1618K probably damaging Het
Dpyd A G 3: 118,710,921 (GRCm39) E443G probably benign Het
Espl1 T C 15: 102,221,452 (GRCm39) V953A possibly damaging Het
Exosc10 T C 4: 148,647,213 (GRCm39) L174P probably damaging Het
Fxyd3 T C 7: 30,770,159 (GRCm39) probably benign Het
Gbp2 T C 3: 142,335,867 (GRCm39) V189A probably benign Het
Gins4 T C 8: 23,719,426 (GRCm39) probably benign Het
Gm12789 A G 4: 101,845,319 (GRCm39) T3A probably benign Het
Gnb1l T C 16: 18,366,839 (GRCm39) probably benign Het
Gtpbp3 T C 8: 71,944,141 (GRCm39) L295S probably damaging Het
Hrh4 C A 18: 13,155,455 (GRCm39) Y331* probably null Het
Hsd11b1 A T 1: 192,923,705 (GRCm39) Y52N probably damaging Het
Jam3 A G 9: 27,017,701 (GRCm39) I29T probably benign Het
Kctd16 T A 18: 40,663,930 (GRCm39) I353N probably benign Het
Lama4 G T 10: 38,904,635 (GRCm39) G246C probably damaging Het
Lhx3 T A 2: 26,093,040 (GRCm39) M137L probably benign Het
Morc2a T C 11: 3,628,567 (GRCm39) I340T probably benign Het
Myo7a A C 7: 97,703,831 (GRCm39) I1969S probably benign Het
Or14a258 T C 7: 86,035,475 (GRCm39) E131G possibly damaging Het
Or5b116 T A 19: 13,422,792 (GRCm39) C139S probably damaging Het
Or6n1 A G 1: 173,916,732 (GRCm39) N42S probably damaging Het
Pclo T C 5: 14,731,194 (GRCm39) L3232P unknown Het
Polr1a T G 6: 71,951,123 (GRCm39) I1407M probably damaging Het
Ppip5k2 A G 1: 97,656,722 (GRCm39) V817A probably damaging Het
Rbfox3 T C 11: 118,386,066 (GRCm39) T280A probably benign Het
Rfx3 T C 19: 27,771,188 (GRCm39) D521G probably benign Het
Scn5a C T 9: 119,372,201 (GRCm39) V223I probably damaging Het
Sgsm3 T G 15: 80,890,803 (GRCm39) M119R probably damaging Het
Slc6a7 T A 18: 61,129,783 (GRCm39) M608L probably benign Het
Slit2 A G 5: 48,339,673 (GRCm39) probably benign Het
Steap2 T A 5: 5,723,561 (GRCm39) I440F probably benign Het
Syn2 T G 6: 115,231,111 (GRCm39) probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tfb2m G A 1: 179,361,203 (GRCm39) H262Y probably benign Het
Trmt1l A G 1: 151,333,426 (GRCm39) probably benign Het
Trpm6 C A 19: 18,800,742 (GRCm39) P819T probably benign Het
Ttn G A 2: 76,574,033 (GRCm39) A25620V probably damaging Het
Ubn2 T C 6: 38,459,553 (GRCm39) probably null Het
Vars1 T C 17: 35,230,572 (GRCm39) probably benign Het
Vip A T 10: 5,594,004 (GRCm39) D119V possibly damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Vps33b T C 7: 79,935,802 (GRCm39) I405T possibly damaging Het
Zbtb21 T A 16: 97,753,300 (GRCm39) S356C probably damaging Het
Zdhhc6 A T 19: 55,297,362 (GRCm39) S237T probably benign Het
Zfp142 G A 1: 74,615,223 (GRCm39) A427V probably benign Het
Zfp692 T A 11: 58,205,140 (GRCm39) V463E possibly damaging Het
Zmynd8 A T 2: 165,670,322 (GRCm39) I384N probably damaging Het
Other mutations in Foxg1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCACTTTGAGTTACAACGGGACCAC -3'
(R):5'- TTAAAGACTCACAGGGCAGGGTCG -3'

Sequencing Primer
(F):5'- GGACCACGTCGGCCTAC -3'
(R):5'- CTCATGGACGTGCTGGTC -3'
Posted On 2013-05-09