Incidental Mutation 'IGL01876:Slc2a1'
| ID |
178896 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc2a1
|
| Ensembl Gene |
ENSMUSG00000028645 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 1 |
| Synonyms |
Glut-1, Glut1, M100200, Rgsc200 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01876
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
118965942-118994527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118990575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 236
(D236N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030398]
[ENSMUST00000134105]
[ENSMUST00000144329]
[ENSMUST00000174372]
[ENSMUST00000208090]
|
| AlphaFold |
P17809 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030398
AA Change: D236N
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030398
Gene: ENSMUSG00000028645
AA Change: D236N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
16 |
467 |
1e-164 |
PFAM |
|
Pfam:MFS_1
|
24 |
418 |
1.6e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134105
|
| SMART Domains |
Protein: ENSMUSP00000118641
Gene: ENSMUSG00000028645
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
12 |
128 |
7.7e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143801
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144329
|
| SMART Domains |
Protein: ENSMUSP00000134126
Gene: ENSMUSG00000028645
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
4 |
123 |
1.5e-35 |
PFAM |
|
Pfam:MFS_1
|
5 |
123 |
3.4e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151216
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157927
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174372
|
| SMART Domains |
Protein: ENSMUSP00000134714
Gene: ENSMUSG00000028645
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
16 |
173 |
9.3e-53 |
PFAM |
|
Pfam:MFS_1
|
18 |
172 |
1.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208090
|
| 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 a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous null embryos are small, lack visibly detectable eyes, show a diminutive rostral embryonic pole and an overall developmental delay, and die at E10-E14. Heterozygotes show spontaneous seizures, impaired motor performance, hypoglycorrhachia, microencephaly, and reduced brain glucose uptake. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l3 |
A |
T |
6: 48,966,970 (GRCm39) |
R639S |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,338,336 (GRCm39) |
S570P |
probably damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,123,602 (GRCm39) |
|
probably null |
Het |
| Api5 |
A |
G |
2: 94,249,299 (GRCm39) |
|
probably benign |
Het |
| Arhgap1 |
A |
G |
2: 91,480,564 (GRCm39) |
|
probably null |
Het |
| Cip2a |
T |
C |
16: 48,822,041 (GRCm39) |
V223A |
probably damaging |
Het |
| Cldn6 |
G |
T |
17: 23,900,158 (GRCm39) |
V41F |
probably damaging |
Het |
| Dctn1 |
G |
T |
6: 83,174,903 (GRCm39) |
V1032L |
probably damaging |
Het |
| Eef2 |
T |
A |
10: 81,016,104 (GRCm39) |
F488L |
probably benign |
Het |
| Fars2 |
A |
G |
13: 36,721,285 (GRCm39) |
T410A |
probably benign |
Het |
| Hnrnpc |
T |
C |
14: 52,319,330 (GRCm39) |
N91S |
probably null |
Het |
| Magel2 |
T |
C |
7: 62,028,575 (GRCm39) |
V493A |
possibly damaging |
Het |
| Odr4 |
G |
T |
1: 150,258,089 (GRCm39) |
T182N |
probably benign |
Het |
| Or4c117 |
A |
T |
2: 88,956,081 (GRCm39) |
|
probably null |
Het |
| Or5ac17 |
A |
G |
16: 59,036,382 (GRCm39) |
V198A |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,592,770 (GRCm39) |
S731R |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,267,577 (GRCm39) |
L798P |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,413,131 (GRCm39) |
E680G |
probably damaging |
Het |
| Rabggta |
T |
C |
14: 55,956,128 (GRCm39) |
T140A |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
C |
A |
13: 53,528,048 (GRCm39) |
V39F |
probably benign |
Het |
| Vmn1r6 |
A |
G |
6: 56,979,446 (GRCm39) |
K36R |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdpcp |
T |
A |
11: 21,763,383 (GRCm39) |
D581E |
possibly damaging |
Het |
|
| Other mutations in Slc2a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01404:Slc2a1
|
APN |
4 |
118,989,435 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02355:Slc2a1
|
APN |
4 |
118,993,612 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02362:Slc2a1
|
APN |
4 |
118,993,612 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1076:Slc2a1
|
UTSW |
4 |
118,991,645 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1561:Slc2a1
|
UTSW |
4 |
118,993,606 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1616:Slc2a1
|
UTSW |
4 |
118,993,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3015:Slc2a1
|
UTSW |
4 |
118,989,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4166:Slc2a1
|
UTSW |
4 |
118,990,313 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4795:Slc2a1
|
UTSW |
4 |
118,989,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4796:Slc2a1
|
UTSW |
4 |
118,989,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6025:Slc2a1
|
UTSW |
4 |
118,993,539 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7403:Slc2a1
|
UTSW |
4 |
118,989,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7429:Slc2a1
|
UTSW |
4 |
118,993,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Slc2a1
|
UTSW |
4 |
118,993,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Slc2a1
|
UTSW |
4 |
118,989,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7692:Slc2a1
|
UTSW |
4 |
118,993,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Slc2a1
|
UTSW |
4 |
118,989,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7845:Slc2a1
|
UTSW |
4 |
118,993,125 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8236:Slc2a1
|
UTSW |
4 |
118,990,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9037:Slc2a1
|
UTSW |
4 |
118,993,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9275:Slc2a1
|
UTSW |
4 |
118,990,607 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9278:Slc2a1
|
UTSW |
4 |
118,990,607 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2014-05-07 |
Incidental Mutation