Incidental Mutation 'R5611:Gfap'
ID 438039
Institutional Source Beutler Lab
Gene Symbol Gfap
Ensembl Gene ENSMUSG00000020932
Gene Name glial fibrillary acidic protein
MMRRC Submission 043273-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R5611 (G1)
Quality Score 202
Status Not validated
Chromosome 11
Chromosomal Location 102778162-102791368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102787895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 17 (T17S)
Ref Sequence ENSEMBL: ENSMUSP00000077061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067444] [ENSMUST00000077902]
AlphaFold P03995
Predicted Effect probably benign
Transcript: ENSMUST00000067444
AA Change: T17S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064691
Gene: ENSMUSG00000020932
AA Change: T17S

Pfam:Filament_head 2 64 1.7e-8 PFAM
Filament 65 373 2.34e-136 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077902
AA Change: T17S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000077061
Gene: ENSMUSG00000020932
AA Change: T17S

Pfam:Filament_head 1 64 1.6e-7 PFAM
Pfam:Filament 65 373 1e-112 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181125
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for targeted null mutations show reduced astrocyte-associated intermediate filaments, enhanced long-term potentiation and impaired eye-blink conditioning. Aged mutants may show hydrocephaly, reduced myelination and impaired blood-brain barrier. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 G C 11: 48,910,828 (GRCm39) T535R possibly damaging Het
Adam34 A T 8: 44,104,749 (GRCm39) F299I probably benign Het
Adamts20 A G 15: 94,171,161 (GRCm39) M1854T possibly damaging Het
Adrm1b G A 3: 92,335,758 (GRCm39) P315S probably damaging Het
Apbb1 A G 7: 105,208,690 (GRCm39) V581A probably damaging Het
Apol6 T A 15: 76,935,240 (GRCm39) probably null Het
Arhgef37 T C 18: 61,640,334 (GRCm39) T242A probably benign Het
Asxl2 T C 12: 3,534,598 (GRCm39) V265A probably damaging Het
Bicd1 A T 6: 149,414,954 (GRCm39) R556* probably null Het
C2 A G 17: 35,091,360 (GRCm39) I101T probably damaging Het
Cd22 T A 7: 30,577,575 (GRCm39) probably benign Het
Cd33 T C 7: 43,181,542 (GRCm39) H206R probably damaging Het
Cd5l G A 3: 87,275,082 (GRCm39) G207D possibly damaging Het
Chrd A T 16: 20,557,724 (GRCm39) D774V probably damaging Het
Csn1s1 A T 5: 87,825,503 (GRCm39) probably null Het
Dpyd G A 3: 118,987,942 (GRCm39) V704I probably benign Het
Dscc1 C A 15: 54,945,569 (GRCm39) Q312H probably benign Het
Dysf A T 6: 84,041,860 (GRCm39) T154S probably damaging Het
Foxi2 T C 7: 135,013,433 (GRCm39) V221A probably benign Het
Gabbr2 A T 4: 46,804,105 (GRCm39) I250N probably damaging Het
Hcrtr2 A G 9: 76,230,596 (GRCm39) V64A probably damaging Het
Igkv4-86 A G 6: 68,887,659 (GRCm39) S27P probably damaging Het
Kalrn G T 16: 33,996,150 (GRCm39) F903L probably damaging Het
Lrrc31 A G 3: 30,745,304 (GRCm39) probably null Het
Mlh3 T C 12: 85,314,219 (GRCm39) T656A probably benign Het
Mss51 G T 14: 20,533,174 (GRCm39) S432R possibly damaging Het
Mzf1 A G 7: 12,778,554 (GRCm39) probably benign Het
Nop58 T A 1: 59,749,672 (GRCm39) probably benign Het
Or10al5 A T 17: 38,062,975 (GRCm39) I77F possibly damaging Het
Otogl T C 10: 107,622,630 (GRCm39) E1652G probably damaging Het
Pikfyve C A 1: 65,295,247 (GRCm39) N1459K probably damaging Het
Pkn3 G A 2: 29,969,673 (GRCm39) G61D probably damaging Het
Plekha4 T C 7: 45,203,065 (GRCm39) S581P probably benign Het
Ppm1g A G 5: 31,363,441 (GRCm39) F256L probably damaging Het
Proser1 A G 3: 53,386,296 (GRCm39) N726S probably benign Het
Rapgef1 A G 2: 29,592,448 (GRCm39) D480G probably damaging Het
Reln G A 5: 22,244,663 (GRCm39) Q772* probably null Het
Sh3gl2 T C 4: 85,273,568 (GRCm39) V40A probably benign Het
Slc22a23 G A 13: 34,489,222 (GRCm39) T221I probably benign Het
Slc22a28 T A 19: 8,040,698 (GRCm39) T518S probably damaging Het
Slc4a1ap A G 5: 31,711,173 (GRCm39) probably benign Het
St8sia4 T C 1: 95,555,409 (GRCm39) D207G probably damaging Het
Syde1 T A 10: 78,421,725 (GRCm39) T609S probably benign Het
Tbc1d5 A G 17: 51,042,995 (GRCm39) I831T probably damaging Het
Tle4 T C 19: 14,427,159 (GRCm39) D754G probably damaging Het
Ttn C T 2: 76,562,869 (GRCm39) W26949* probably null Het
Vmn1r222 A C 13: 23,416,743 (GRCm39) S157A probably damaging Het
Vmn1r51 T A 6: 90,106,692 (GRCm39) L203M probably benign Het
Vmn1r6 T C 6: 56,979,362 (GRCm39) L8P probably damaging Het
Vmn2r103 A G 17: 20,013,904 (GRCm39) D232G probably damaging Het
Vmn2r17 T A 5: 109,576,030 (GRCm39) D300E probably damaging Het
Vmn2r66 T A 7: 84,654,951 (GRCm39) K453* probably null Het
Vps13a A T 19: 16,702,936 (GRCm39) D672E probably damaging Het
Vps54 A G 11: 21,261,130 (GRCm39) N599S possibly damaging Het
Zc3h13 A T 14: 75,568,348 (GRCm39) N1214Y probably benign Het
Zc3h18 T G 8: 123,135,109 (GRCm39) probably null Het
Zfp51 A G 17: 21,684,354 (GRCm39) E323G probably damaging Het
Other mutations in Gfap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Gfap APN 11 102,779,544 (GRCm39) missense possibly damaging 0.88
IGL00815:Gfap APN 11 102,779,516 (GRCm39) missense possibly damaging 0.91
IGL01934:Gfap APN 11 102,785,286 (GRCm39) missense probably damaging 0.97
IGL02556:Gfap APN 11 102,787,780 (GRCm39) missense probably damaging 1.00
IGL03393:Gfap APN 11 102,784,083 (GRCm39) critical splice acceptor site probably null
R4397:Gfap UTSW 11 102,787,810 (GRCm39) missense probably benign 0.08
R4840:Gfap UTSW 11 102,785,214 (GRCm39) missense probably damaging 1.00
R5263:Gfap UTSW 11 102,787,756 (GRCm39) missense probably damaging 1.00
R5306:Gfap UTSW 11 102,786,574 (GRCm39) critical splice donor site probably null
R5646:Gfap UTSW 11 102,782,282 (GRCm39) missense probably benign 0.21
R6964:Gfap UTSW 11 102,787,783 (GRCm39) missense possibly damaging 0.49
R7409:Gfap UTSW 11 102,785,358 (GRCm39) missense probably benign 0.03
R7410:Gfap UTSW 11 102,783,963 (GRCm39) missense probably damaging 1.00
R8112:Gfap UTSW 11 102,787,928 (GRCm39) missense probably benign
R8405:Gfap UTSW 11 102,782,256 (GRCm39) missense probably benign 0.01
R8405:Gfap UTSW 11 102,782,255 (GRCm39) missense probably benign
R8869:Gfap UTSW 11 102,787,810 (GRCm39) missense probably benign 0.00
R8872:Gfap UTSW 11 102,786,620 (GRCm39) missense possibly damaging 0.66
R9004:Gfap UTSW 11 102,782,268 (GRCm39) missense probably benign 0.09
R9236:Gfap UTSW 11 102,786,327 (GRCm39) missense probably damaging 1.00
X0053:Gfap UTSW 11 102,779,541 (GRCm39) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-26