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 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
IGL00815
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102778162-102791368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102779516 bp (GRCm39)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| 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
|
| SMART Domains |
Protein: ENSMUSP00000077061
Gene: ENSMUSG00000020932
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159834
|
| SMART Domains |
Protein: ENSMUSP00000125214
Gene: ENSMUSG00000020930
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
G |
2: 120,981,699 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
A |
G |
9: 51,760,713 (GRCm39) |
N819D |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,965,112 (GRCm39) |
I2061V |
probably benign |
Het |
| Chrna4 |
T |
C |
2: 180,671,184 (GRCm39) |
I191V |
probably benign |
Het |
| Crim1 |
A |
G |
17: 78,677,520 (GRCm39) |
E907G |
probably damaging |
Het |
| Cyp2d9 |
T |
A |
15: 82,340,576 (GRCm39) |
D175E |
possibly damaging |
Het |
| Eml4 |
A |
G |
17: 83,758,219 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fam3c |
A |
T |
6: 22,318,947 (GRCm39) |
D151E |
probably damaging |
Het |
| Far1 |
G |
A |
7: 113,139,896 (GRCm39) |
V115I |
probably benign |
Het |
| Hdac5 |
A |
G |
11: 102,088,168 (GRCm39) |
F934S |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,296,443 (GRCm39) |
E456G |
probably benign |
Het |
| Kl |
G |
A |
5: 150,904,315 (GRCm39) |
E356K |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,281,055 (GRCm39) |
I198T |
possibly damaging |
Het |
| Mroh9 |
C |
T |
1: 162,866,700 (GRCm39) |
V679M |
probably damaging |
Het |
| Pigr |
T |
A |
1: 130,762,167 (GRCm39) |
M1K |
probably null |
Het |
| Pkn3 |
C |
A |
2: 29,971,212 (GRCm39) |
P260T |
possibly damaging |
Het |
| Pld5 |
T |
G |
1: 175,967,585 (GRCm39) |
D28A |
probably damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,060,294 (GRCm39) |
Q1012* |
probably null |
Het |
| Ppp1ca |
A |
G |
19: 4,243,143 (GRCm39) |
I104V |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,509,909 (GRCm39) |
V64A |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,803,948 (GRCm39) |
D427G |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,735,149 (GRCm39) |
I2792V |
possibly damaging |
Het |
| Sec23a |
C |
T |
12: 59,039,068 (GRCm39) |
C248Y |
possibly damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,036,090 (GRCm39) |
|
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,641,191 (GRCm39) |
N279S |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spic |
T |
C |
10: 88,511,729 (GRCm39) |
N176D |
probably damaging |
Het |
| Tlk2 |
C |
T |
11: 105,137,621 (GRCm39) |
Q184* |
probably null |
Het |
| Tpm4 |
T |
C |
8: 72,897,347 (GRCm39) |
I107T |
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,792,732 (GRCm39) |
C186* |
probably null |
Het |
| Txlnb |
A |
T |
10: 17,718,711 (GRCm39) |
H514L |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,962,887 (GRCm39) |
M183K |
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 |
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation