Incidental Mutation 'IGL02629:Foxg1'
ID 301209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxg1
Ensembl Gene ENSMUSG00000020950
Gene Name forkhead box G1
Synonyms BF-1, Hfhbf1, Hfh9, Bf1, 2900064B05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02629
Quality Score
Status
Chromosome 12
Chromosomal Location 49429666-49433650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49432331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 355 (S355G)
Ref Sequence ENSEMBL: ENSMUSP00000136372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021333] [ENSMUST00000179669]
AlphaFold Q60987
Predicted Effect probably benign
Transcript: ENSMUST00000021333
AA Change: S355G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000021333
Gene: ENSMUSG00000020950
AA Change: S355G

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: S125G
SMART Domains Protein: ENSMUSP00000106374
Gene: ENSMUSG00000089922
AA Change: S125G

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 benign
Transcript: ENSMUST00000179669
AA Change: S355G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000136372
Gene: ENSMUSG00000020950
AA Change: S355G

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
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,445,006 (GRCm39) probably benign Het
Aadacl3 A G 4: 144,190,199 (GRCm39) I34T possibly damaging Het
Acan T A 7: 78,761,727 (GRCm39) I1979N possibly damaging Het
Ankrd27 A G 7: 35,325,121 (GRCm39) D701G probably benign Het
Arhgap31 C T 16: 38,429,526 (GRCm39) G450S probably benign Het
Braf T C 6: 39,665,233 (GRCm39) E45G possibly damaging Het
Btnl6 C T 17: 34,733,442 (GRCm39) V178M probably damaging Het
Capg A T 6: 72,532,737 (GRCm39) Q67L probably benign Het
Carmil3 A G 14: 55,736,525 (GRCm39) N663S probably damaging Het
Casz1 T A 4: 149,028,848 (GRCm39) S1098T probably benign Het
Cd55b A T 1: 130,347,535 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cenpf A G 1: 189,384,531 (GRCm39) L2583P probably damaging Het
Clec4a1 A C 6: 122,909,106 (GRCm39) probably null Het
Corin T C 5: 72,490,016 (GRCm39) N653S probably damaging Het
Dhx36 T C 3: 62,414,155 (GRCm39) E69G probably benign Het
Dpy19l1 C A 9: 24,350,009 (GRCm39) probably benign Het
Fam184a T C 10: 53,574,907 (GRCm39) N234S possibly damaging Het
Fsd1l T C 4: 53,686,417 (GRCm39) S277P probably damaging Het
Hadh T A 3: 131,029,284 (GRCm39) D245V probably damaging Het
Jag2 G A 12: 112,878,134 (GRCm39) probably benign Het
Klhl18 A T 9: 110,259,006 (GRCm39) probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Mcoln2 A G 3: 145,875,799 (GRCm39) Y89C probably benign Het
Mug1 A T 6: 121,817,024 (GRCm39) Y31F possibly damaging Het
Ndufb5 A G 3: 32,791,348 (GRCm39) T32A probably benign Het
Nub1 C T 5: 24,908,462 (GRCm39) H404Y possibly damaging Het
Nudt6 A G 3: 37,459,320 (GRCm39) Y222H probably benign Het
Or4x6 A T 2: 89,949,201 (GRCm39) L247* probably null Het
Pla2g4c A T 7: 13,069,302 (GRCm39) R159* probably null Het
Pnpla7 A G 2: 24,940,957 (GRCm39) D1103G probably damaging Het
Pof1b T G X: 111,554,934 (GRCm39) probably benign Het
Prrg2 C T 7: 44,706,166 (GRCm39) probably null Het
Rab3gap1 A G 1: 127,837,600 (GRCm39) T221A probably benign Het
Rfx7 A G 9: 72,526,541 (GRCm39) N1244D probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rnf123 A T 9: 107,947,988 (GRCm39) probably benign Het
Rnf44 T G 13: 54,830,875 (GRCm39) Q207P possibly damaging Het
Serpina3g A G 12: 104,207,437 (GRCm39) D200G probably damaging Het
Slc5a4a T A 10: 75,983,413 (GRCm39) S17T unknown Het
Smc4 G T 3: 68,933,206 (GRCm39) C609F probably damaging Het
Sync T C 4: 129,187,744 (GRCm39) F259L probably damaging Het
Tas2r113 T C 6: 132,870,299 (GRCm39) L109P probably damaging Het
Tjp2 C A 19: 24,099,743 (GRCm39) probably benign Het
Tmem30a C A 9: 79,683,531 (GRCm39) probably benign Het
Unc80 T C 1: 66,522,476 (GRCm39) V226A possibly damaging Het
Upk2 A T 9: 44,365,436 (GRCm39) L44Q probably damaging Het
Usp42 T C 5: 143,708,909 (GRCm39) Y203C possibly damaging Het
Vmn1r28 A T 6: 58,242,801 (GRCm39) I215F probably benign Het
Zswim2 A G 2: 83,755,553 (GRCm39) V116A possibly damaging Het
Other mutations in Foxg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01712:Foxg1 APN 12 49,432,403 (GRCm39) missense possibly damaging 0.94
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
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
Posted On 2015-04-16