Incidental Mutation 'IGL00815:Gfap'
ID 10950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfap
Ensembl Gene ENSMUSG00000020932
Gene Name glial fibrillary acidic protein
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # IGL00815
Quality Score
Chromosome 11
Chromosomal Location 102887336-102900912 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102888690 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 427 (D427G)
Ref Sequence ENSEMBL: ENSMUSP00000064691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021307] [ENSMUST00000067444] [ENSMUST00000077902] [ENSMUST00000100369] [ENSMUST00000159834]
AlphaFold P03995
Predicted Effect probably benign
Transcript: ENSMUST00000021307
SMART Domains Protein: ENSMUSP00000021307
Gene: ENSMUSG00000020930

Pfam:Dynein_attach_N 7 74 3.3e-32 PFAM
Pfam:RPAP3_C 98 188 1.2e-19 PFAM
low complexity region 219 233 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000067444
AA Change: D427G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064691
Gene: ENSMUSG00000020932
AA Change: D427G

Pfam:Filament_head 2 64 1.7e-8 PFAM
Filament 65 373 2.34e-136 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077902
SMART Domains Protein: ENSMUSP00000077061
Gene: ENSMUSG00000020932

Pfam:Filament_head 1 64 1.6e-7 PFAM
Pfam:Filament 65 373 1e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100369
SMART Domains Protein: ENSMUSP00000097938
Gene: ENSMUSG00000075510

signal peptide 1 18 N/A INTRINSIC
IG 39 142 3.73e0 SMART
IG_like 275 361 1.61e1 SMART
transmembrane domain 377 399 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159834
SMART Domains Protein: ENSMUSP00000125214
Gene: ENSMUSG00000020930

coiled coil region 8 33 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181125
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adal A G 2: 121,151,218 probably benign Het
Arhgap20 A G 9: 51,849,413 N819D probably benign Het
Cenpe A G 3: 135,259,351 I2061V probably benign Het
Chrna4 T C 2: 181,029,391 I191V probably benign Het
Crim1 A G 17: 78,370,091 E907G probably damaging Het
Cyp2d9 T A 15: 82,456,375 D175E possibly damaging Het
Eml4 A G 17: 83,450,790 probably benign Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fam3c A T 6: 22,318,948 D151E probably damaging Het
Far1 G A 7: 113,540,689 V115I probably benign Het
Hdac5 A G 11: 102,197,342 F934S probably damaging Het
Hyou1 A G 9: 44,385,146 E456G probably benign Het
Kl G A 5: 150,980,850 E356K possibly damaging Het
Morc1 T C 16: 48,460,692 I198T possibly damaging Het
Mroh9 C T 1: 163,039,131 V679M probably damaging Het
Pigr T A 1: 130,834,430 M1K probably null Het
Pkn3 C A 2: 30,081,200 P260T possibly damaging Het
Pld5 T G 1: 176,140,019 D28A probably damaging Het
Plekhg2 G A 7: 28,360,869 Q1012* probably null Het
Ppp1ca A G 19: 4,193,144 I104V probably benign Het
Rad21l A G 2: 151,667,989 V64A probably damaging Het
Rbm20 A G 19: 53,815,517 D427G probably damaging Het
Rev3l A G 10: 39,859,153 I2792V possibly damaging Het
Sec23a C T 12: 58,992,282 C248Y possibly damaging Het
Sf3b1 A T 1: 54,996,931 probably benign Het
Slc30a1 A G 1: 191,909,079 N279S probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Spic T C 10: 88,675,867 N176D probably damaging Het
Tlk2 C T 11: 105,246,795 Q184* probably null Het
Tpm4 T C 8: 72,143,503 I107T probably benign Het
Ttll11 A T 2: 35,902,720 C186* probably null Het
Txlnb A T 10: 17,842,963 H514L probably damaging Het
Zfpm2 T A 15: 41,099,491 M183K probably benign Het
Other mutations in Gfap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Gfap APN 11 102888718 missense possibly damaging 0.88
IGL01934:Gfap APN 11 102894460 missense probably damaging 0.97
IGL02556:Gfap APN 11 102896954 missense probably damaging 1.00
IGL03393:Gfap APN 11 102893257 critical splice acceptor site probably null
R4397:Gfap UTSW 11 102896984 missense probably benign 0.08
R4840:Gfap UTSW 11 102894388 missense probably damaging 1.00
R5263:Gfap UTSW 11 102896930 missense probably damaging 1.00
R5306:Gfap UTSW 11 102895748 critical splice donor site probably null
R5611:Gfap UTSW 11 102897069 missense probably benign 0.00
R5646:Gfap UTSW 11 102891456 missense probably benign 0.21
R6964:Gfap UTSW 11 102896957 missense possibly damaging 0.49
R7409:Gfap UTSW 11 102894532 missense probably benign 0.03
R7410:Gfap UTSW 11 102893137 missense probably damaging 1.00
R8112:Gfap UTSW 11 102897102 missense probably benign
R8405:Gfap UTSW 11 102891429 missense probably benign
R8405:Gfap UTSW 11 102891430 missense probably benign 0.01
R8869:Gfap UTSW 11 102896984 missense probably benign 0.00
R8872:Gfap UTSW 11 102895794 missense possibly damaging 0.66
R9004:Gfap UTSW 11 102891442 missense probably benign 0.09
R9236:Gfap UTSW 11 102895501 missense probably damaging 1.00
X0053:Gfap UTSW 11 102888715 nonsense probably null
Posted On 2012-12-06