Incidental Mutation 'R5263:Gfap'
ID 401561
Institutional Source Beutler Lab
Gene Symbol Gfap
Ensembl Gene ENSMUSG00000020932
Gene Name glial fibrillary acidic protein
Synonyms
MMRRC Submission 042831-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R5263 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 102778162-102791368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102787756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 63 (R63Q)
Ref Sequence ENSEMBL: ENSMUSP00000077061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067444] [ENSMUST00000077902]
AlphaFold P03995
Predicted Effect probably damaging
Transcript: ENSMUST00000067444
AA Change: R63Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000064691
Gene: ENSMUSG00000020932
AA Change: R63Q

DomainStartEndE-ValueType
Pfam:Filament_head 2 64 1.7e-8 PFAM
Filament 65 373 2.34e-136 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000077902
AA Change: R63Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077061
Gene: ENSMUSG00000020932
AA Change: R63Q

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 G T 3: 138,133,816 (GRCm39) V309L probably benign Het
Agmo T C 12: 37,407,680 (GRCm39) V188A probably benign Het
Aqr A G 2: 113,947,059 (GRCm39) M1041T probably damaging Het
Arhgef4 T A 1: 34,764,078 (GRCm39) S1111R possibly damaging Het
Ascc3 A C 10: 50,592,757 (GRCm39) E1144D probably benign Het
Cct3 T C 3: 88,228,672 (GRCm39) probably null Het
Cd209f T C 8: 4,154,506 (GRCm39) T114A probably benign Het
Cgnl1 G A 9: 71,539,936 (GRCm39) Q1103* probably null Het
Cop1 G A 1: 159,152,507 (GRCm39) D586N probably damaging Het
Dcaf5 A G 12: 80,395,120 (GRCm39) S350P probably damaging Het
Dhx29 T C 13: 113,084,755 (GRCm39) C658R probably damaging Het
Dync1i1 G A 6: 5,969,446 (GRCm39) V424I possibly damaging Het
Gm10563 CTTT CTTTATTT 4: 155,698,940 (GRCm39) probably null Het
Gprc6a C A 10: 51,502,900 (GRCm39) G321V probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Izumo1r A G 9: 14,812,976 (GRCm39) C99R probably damaging Het
Lrp1b T C 2: 41,850,691 (GRCm39) D102G probably damaging Het
Mettl4 G A 17: 95,047,937 (GRCm39) Q235* probably null Het
Mmrn2 A G 14: 34,121,541 (GRCm39) T804A probably benign Het
Mrgprb5 A G 7: 47,817,937 (GRCm39) V266A probably damaging Het
Ntng1 T C 3: 109,842,188 (GRCm39) D195G probably damaging Het
Pld4 T C 12: 112,731,465 (GRCm39) L206P probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prkd1 A G 12: 50,435,089 (GRCm39) L546P probably damaging Het
Rhob A T 12: 8,549,232 (GRCm39) M134K probably benign Het
Ryr3 A G 2: 112,548,347 (GRCm39) S3087P possibly damaging Het
Sema6c T C 3: 95,080,463 (GRCm39) L887P probably benign Het
Sltm T C 9: 70,492,081 (GRCm39) S648P unknown Het
Sucnr1 A G 3: 59,994,190 (GRCm39) I239M possibly damaging Het
Tgtp2 T A 11: 48,950,090 (GRCm39) M161L probably damaging Het
Trpm7 A G 2: 126,663,137 (GRCm39) V1037A probably benign Het
Vmn2r13 A T 5: 109,321,841 (GRCm39) H285Q probably benign Het
Zfp971 T A 2: 177,675,555 (GRCm39) C385S probably damaging Het
Zfpm2 T A 15: 40,962,791 (GRCm39) V283E probably benign Het
Zranb1 CTGATGATGATG CTGATGATGATGATG 7: 132,584,556 (GRCm39) probably benign 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
R5306:Gfap UTSW 11 102,786,574 (GRCm39) critical splice donor site probably null
R5611:Gfap UTSW 11 102,787,895 (GRCm39) missense probably benign 0.00
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
(F):5'- TGTGCAAAGTTGTCCCTCTC -3'
(R):5'- TCCTCCATAAAGGCCCTGAC -3'

Sequencing Primer
(F):5'- CACTGTTGGCCGTAAGCTG -3'
(R):5'- TGACATCCCAGGAGCCAG -3'
Posted On 2016-07-06