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)
|
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
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: R63Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000077061 Gene: ENSMUSG00000020932 AA Change: R63Q
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 |
- 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |