Incidental Mutation 'IGL01934:Gfap'
ID180576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfap
Ensembl Gene ENSMUSG00000020932
Gene Nameglial fibrillary acidic protein
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.161) question?
Stock #IGL01934
Quality Score
Status
Chromosome11
Chromosomal Location102887336-102900912 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 102894460 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 230 (A230V)
Ref Sequence ENSEMBL: ENSMUSP00000077061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067444] [ENSMUST00000077902]
Predicted Effect probably damaging
Transcript: ENSMUST00000067444
AA Change: A230V

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064691
Gene: ENSMUSG00000020932
AA Change: A230V

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: A230V

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077061
Gene: ENSMUSG00000020932
AA Change: A230V

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
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
4931414P19Rik T C 14: 54,585,655 K362E probably damaging Het
4932438H23Rik T A 16: 91,055,865 T128S probably damaging Het
Aars T A 8: 111,048,018 I593N probably damaging Het
Abca6 A T 11: 110,188,655 N1224K probably benign Het
Abcc5 A T 16: 20,422,441 probably benign Het
Adam7 A G 14: 68,532,599 L35P probably damaging Het
Ahnak T A 19: 9,002,657 L435Q probably damaging Het
Ankef1 A G 2: 136,552,531 E620G possibly damaging Het
Ap3d1 A T 10: 80,709,258 L1082* probably null Het
Atp6v0a4 T A 6: 38,051,546 I712F possibly damaging Het
Bco1 T A 8: 117,096,045 F5L possibly damaging Het
Cacna2d4 A T 6: 119,308,768 S794C probably damaging Het
Camk2d T C 3: 126,834,655 probably null Het
Capn15 T C 17: 25,963,024 T604A probably damaging Het
Cd180 A T 13: 102,702,858 D83V probably damaging Het
Ces1a C A 8: 93,032,650 R286L probably damaging Het
Col6a6 A G 9: 105,698,659 probably null Het
Crnkl1 A G 2: 145,931,282 V148A probably benign Het
Epas1 A T 17: 86,823,729 K312N probably damaging Het
Fbxw2 T C 2: 34,822,606 S148G probably damaging Het
Fig4 T C 10: 41,228,112 T791A probably benign Het
Galnt9 A T 5: 110,602,636 I340F possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm454 T C 5: 138,207,162 noncoding transcript Het
Il24 A T 1: 130,883,877 L115Q probably damaging Het
Ipp C A 4: 116,510,655 N28K probably damaging Het
Kalrn A T 16: 34,198,512 probably null Het
Klf10 C T 15: 38,297,284 V171M probably benign Het
Man1b1 T C 2: 25,345,511 S350P probably benign Het
Mfsd4a T C 1: 132,046,311 Y343C probably damaging Het
Mrpl58 C A 11: 115,410,729 probably benign Het
Myo7b A G 18: 32,001,341 probably null Het
Nbas T C 12: 13,289,879 probably benign Het
Nisch A G 14: 31,176,739 probably benign Het
Olfr494 A G 7: 108,368,161 I224V probably damaging Het
Olfr619 T C 7: 103,603,975 F107S probably damaging Het
Olfr97 A T 17: 37,231,548 V274D probably damaging Het
Parva T A 7: 112,588,553 C352* probably null Het
Ptf1a T A 2: 19,446,620 C254S possibly damaging Het
R3hdm1 G T 1: 128,236,535 R1062L probably benign Het
Rnf44 A G 13: 54,681,950 V407A probably damaging Het
Shank3 T C 15: 89,549,846 L1598P probably damaging Het
Slit2 T C 5: 48,238,405 S717P possibly damaging Het
Svs1 A T 6: 48,988,761 I568F probably damaging Het
Tdpoz4 A G 3: 93,797,472 K359E probably damaging Het
Tmtc4 A T 14: 122,927,635 L604* probably null Het
Tnfrsf21 A T 17: 43,065,187 N488I probably benign Het
Tnfsf8 A G 4: 63,834,510 probably benign Het
Tnpo3 A T 6: 29,575,020 L382M probably benign Het
Tut1 T C 19: 8,953,991 C18R probably damaging Het
Ugt8a A G 3: 125,914,775 S229P probably benign Het
Usp22 T C 11: 61,155,288 E476G probably damaging Het
Vill G T 9: 119,066,809 A146S probably damaging Het
Vmn1r178 T C 7: 23,893,937 Y137H probably damaging Het
Wdfy1 A T 1: 79,740,116 W51R probably damaging Het
Zc3hav1 A T 6: 38,319,833 probably null Het
Zfp236 A T 18: 82,633,120 V889E probably damaging Het
Zscan20 T C 4: 128,592,484 D141G possibly damaging Het
Other mutations in Gfap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Gfap APN 11 102888718 missense possibly damaging 0.88
IGL00815:Gfap APN 11 102888690 missense possibly damaging 0.91
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
X0053:Gfap UTSW 11 102888715 nonsense probably null
Posted On2014-05-07