Mutagenetix > Incidental Mutation

Incidental Mutation 'R8405:Gfap'

652361

Institutional Source

Beutler Lab

Gene Symbol

Gfap

Ensembl Gene

ENSMUSG00000020932

Gene Name

glial fibrillary acidic protein

Synonyms

MMRRC Submission

067879-MU

Accession Numbers

Essential gene?

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

Stock #

R8405 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102778162-102791368 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102782255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 418 (Q418H)

Ref Sequence

ENSEMBL: ENSMUSP00000077061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067444] [ENSMUST00000077902] [ENSMUST00000100369]

AlphaFold

P03995

Predicted Effect

probably benign
Transcript: ENSMUST00000067444

SMART Domains

Protein: ENSMUSP00000064691
Gene: ENSMUSG00000020932

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 benign
Transcript: ENSMUST00000077902
AA Change: Q418H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077061
Gene: ENSMUSG00000020932
AA Change: Q418H

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (49/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	C	3: 153,635,165 (GRCm39)		probably benign	Het
Anxa3	C	A	5: 96,978,295 (GRCm39)	D226E	probably benign	Het
Anxa8	T	C	14: 33,819,881 (GRCm39)	L290P	probably damaging	Het
Brd4	C	A	17: 32,448,505 (GRCm39)	K57N	unknown	Het
Cpne8	T	A	15: 90,456,235 (GRCm39)	Q176L	possibly damaging	Het
Csf2rb2	T	C	15: 78,172,093 (GRCm39)	D439G	possibly damaging	Het
Csmd3	A	G	15: 47,619,379 (GRCm39)	S1832P	probably damaging	Het
Cux1	A	G	5: 136,304,241 (GRCm39)	S1320P	possibly damaging	Het
Cyp2t4	A	T	7: 26,856,894 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,349,289 (GRCm39)	L2449Q	probably damaging	Het
Dock1	A	G	7: 134,379,192 (GRCm39)	M640V	probably benign	Het
Efcab3	G	A	11: 104,612,024 (GRCm39)	S622N	probably benign	Het
Ergic1	T	A	17: 26,874,096 (GRCm39)	I274N	probably damaging	Het
Fat3	T	C	9: 15,907,167 (GRCm39)	D2945G	probably damaging	Het
Fscb	T	C	12: 64,520,278 (GRCm39)	E396G	possibly damaging	Het
Gab1	T	A	8: 81,501,594 (GRCm39)	R581*	probably null	Het
Gabarapl1	A	G	6: 129,514,497 (GRCm39)	D45G	probably null	Het
Hectd1	T	A	12: 51,874,178 (GRCm39)	M33L	probably benign	Het
Kcnh7	T	A	2: 62,533,446 (GRCm39)	K1144N	probably benign	Het
Lrit3	C	T	3: 129,582,301 (GRCm39)	G562D	probably benign	Het
Mab21l1	A	T	3: 55,690,659 (GRCm39)	Q82L	probably damaging	Het
Naip6	C	T	13: 100,436,784 (GRCm39)	A580T	possibly damaging	Het
Nav1	T	C	1: 135,382,508 (GRCm39)	K1258R	unknown	Het
Nbas	C	A	12: 13,329,394 (GRCm39)	A113E	probably damaging	Het
Nlrp1b	A	T	11: 71,073,356 (GRCm39)	D162E	possibly damaging	Het
Nr2c1	A	T	10: 94,031,155 (GRCm39)	H572L	probably benign	Het
Or52s1	A	T	7: 102,861,408 (GRCm39)	I114F	probably benign	Het
Or56b2j	T	A	7: 104,353,208 (GRCm39)	S145T	probably benign	Het
Pcdha12	T	A	18: 37,154,250 (GRCm39)	V323E	possibly damaging	Het
Pgm5	T	A	19: 24,705,106 (GRCm39)	H469L	probably benign	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pja2	T	C	17: 64,616,505 (GRCm39)	E130G	possibly damaging	Het
Ppp2r2b	G	C	18: 42,778,805 (GRCm39)	D443E	probably benign	Het
Prdm9	T	A	17: 15,764,456 (GRCm39)	T775S	probably benign	Het
Rbm6	A	G	9: 107,730,016 (GRCm39)	S211P	probably benign	Het
Rgl2	C	T	17: 34,152,698 (GRCm39)	Q408*	probably null	Het
Rgs14	C	T	13: 55,530,962 (GRCm39)	R389W	probably damaging	Het
Rtcb	T	C	10: 85,793,534 (GRCm39)	D13G	probably benign	Het
Slc23a4	C	T	6: 34,923,145 (GRCm39)	C280Y	probably benign	Het
Slc7a5	G	T	8: 122,613,661 (GRCm39)	T297K	possibly damaging	Het
Spef2	A	G	15: 9,612,643 (GRCm39)	V1229A	probably benign	Het
Stag3	A	C	5: 138,302,914 (GRCm39)	T1064P	probably damaging	Het
Tnnt1	A	G	7: 4,510,592 (GRCm39)	S211P	probably damaging	Het
Trim26	A	G	17: 37,167,095 (GRCm39)	D262G	possibly damaging	Het
Trim30a	A	T	7: 104,060,749 (GRCm39)	Y342*	probably null	Het
Trpm7	T	C	2: 126,658,755 (GRCm39)	I1134V	probably benign	Het
Tsc22d1	G	A	14: 76,655,734 (GRCm39)	G738S	probably damaging	Het
Usp39	A	G	6: 72,305,521 (GRCm39)	F421L	probably damaging	Het
Vmn2r97	G	A	17: 19,134,802 (GRCm39)		probably null	Het
Zfat	T	C	15: 68,018,410 (GRCm39)	Y968C	probably 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
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
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
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'- CCTCTATCTAAGGGAGAGCTGGAG -3'
(R):5'- ATGACCAAGCTCTGCCCTTC -3'

Sequencing Primer
(F):5'- TGGAGCACGCCTCTATCTAAG -3'
(R):5'- AAGCTCTGCCCTTCTGAGTG -3'

Posted On

2020-10-20