Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01934:Gfap'

180576

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gfap

Ensembl Gene

ENSMUSG00000020932

Gene Name

glial fibrillary acidic protein

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

102778162-102791368 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102785286 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

P03995

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,112 (GRCm39)	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 90,852,753 (GRCm39)	T128S	probably damaging	Het
Aars1	T	A	8: 111,774,650 (GRCm39)	I593N	probably damaging	Het
Abca6	A	T	11: 110,079,481 (GRCm39)	N1224K	probably benign	Het
Abcc5	A	T	16: 20,241,191 (GRCm39)		probably benign	Het
Adam7	A	G	14: 68,770,048 (GRCm39)	L35P	probably damaging	Het
Ahnak	T	A	19: 8,980,021 (GRCm39)	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,394,451 (GRCm39)	E620G	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,695 (GRCm39)	I568F	probably damaging	Het
Ap3d1	A	T	10: 80,545,092 (GRCm39)	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,028,481 (GRCm39)	I712F	possibly damaging	Het
Bco1	T	A	8: 117,822,784 (GRCm39)	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,285,729 (GRCm39)	S794C	probably damaging	Het
Camk2d	T	C	3: 126,628,304 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,181,998 (GRCm39)	T604A	probably damaging	Het
Cd180	A	T	13: 102,839,366 (GRCm39)	D83V	probably damaging	Het
Ces1a	C	A	8: 93,759,278 (GRCm39)	R286L	probably damaging	Het
Col6a6	A	G	9: 105,575,858 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,773,202 (GRCm39)	V148A	probably benign	Het
Epas1	A	T	17: 87,131,157 (GRCm39)	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,712,618 (GRCm39)	S148G	probably damaging	Het
Fig4	T	C	10: 41,104,108 (GRCm39)	T791A	probably benign	Het
Galnt9	A	T	5: 110,750,502 (GRCm39)	I340F	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm454	T	C	5: 138,205,424 (GRCm39)		noncoding transcript	Het
Il24	A	T	1: 130,811,614 (GRCm39)	L115Q	probably damaging	Het
Ipp	C	A	4: 116,367,852 (GRCm39)	N28K	probably damaging	Het
Kalrn	A	T	16: 34,018,882 (GRCm39)		probably null	Het
Klf10	C	T	15: 38,297,528 (GRCm39)	V171M	probably benign	Het
Man1b1	T	C	2: 25,235,523 (GRCm39)	S350P	probably benign	Het
Mfsd4a	T	C	1: 131,974,049 (GRCm39)	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,301,555 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,134,394 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,339,880 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,696 (GRCm39)		probably benign	Het
Or1o2	A	T	17: 37,542,439 (GRCm39)	V274D	probably damaging	Het
Or52z14	T	C	7: 103,253,182 (GRCm39)	F107S	probably damaging	Het
Or5p69	A	G	7: 107,967,368 (GRCm39)	I224V	probably damaging	Het
Parva	T	A	7: 112,187,760 (GRCm39)	C352*	probably null	Het
Ptf1a	T	A	2: 19,451,431 (GRCm39)	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,164,272 (GRCm39)	R1062L	probably benign	Het
Rnf44	A	G	13: 54,829,763 (GRCm39)	V407A	probably damaging	Het
Shank3	T	C	15: 89,434,049 (GRCm39)	L1598P	probably damaging	Het
Slit2	T	C	5: 48,395,747 (GRCm39)	S717P	possibly damaging	Het
Tdpoz4	A	G	3: 93,704,779 (GRCm39)	K359E	probably damaging	Het
Tmtc4	A	T	14: 123,165,047 (GRCm39)	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,376,078 (GRCm39)	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,752,747 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,575,019 (GRCm39)	L382M	probably benign	Het
Tut1	T	C	19: 8,931,355 (GRCm39)	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,708,424 (GRCm39)	S229P	probably benign	Het
Usp22	T	C	11: 61,046,114 (GRCm39)	E476G	probably damaging	Het
Vill	G	T	9: 118,895,877 (GRCm39)	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,593,362 (GRCm39)	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,717,833 (GRCm39)	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,296,768 (GRCm39)		probably null	Het
Zfp236	A	T	18: 82,651,245 (GRCm39)	V889E	probably damaging	Het
Zscan20	T	C	4: 128,486,277 (GRCm39)	D141G	possibly damaging	Het

Other mutations in Gfap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2014-05-07