Incidental Mutation 'R4166:Slc2a1'
| ID |
320571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc2a1
|
| Ensembl Gene |
ENSMUSG00000028645 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 1 |
| Synonyms |
Glut-1, Glut1, M100200, Rgsc200 |
| MMRRC Submission |
041639-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4166 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118965942-118994527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 118990313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 179
(I179S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030398]
[ENSMUST00000134105]
[ENSMUST00000144329]
[ENSMUST00000174372]
[ENSMUST00000208090]
|
| AlphaFold |
P17809 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030398
AA Change: I179S
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030398
Gene: ENSMUSG00000028645
AA Change: I179S
| 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
|
| Meta Mutation Damage Score |
0.6088 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
100% (56/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,912 (GRCm39) |
T1018A |
possibly damaging |
Het |
| Aak1 |
T |
A |
6: 86,827,044 (GRCm39) |
F4I |
probably damaging |
Het |
| Adamts8 |
G |
T |
9: 30,862,684 (GRCm39) |
E296D |
probably benign |
Het |
| Ankrd35 |
T |
A |
3: 96,586,471 (GRCm39) |
|
probably null |
Het |
| Arhgap20 |
G |
A |
9: 51,738,135 (GRCm39) |
|
probably null |
Het |
| Bhmt |
T |
A |
13: 93,762,007 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
C |
A |
2: 24,567,923 (GRCm39) |
R1055L |
probably benign |
Het |
| Cdk5r1 |
A |
G |
11: 80,369,035 (GRCm39) |
Y234C |
probably damaging |
Het |
| Cdx2 |
G |
T |
5: 147,243,539 (GRCm39) |
A85D |
possibly damaging |
Het |
| Cenpe |
G |
A |
3: 134,949,479 (GRCm39) |
G88D |
probably damaging |
Het |
| Cfap300 |
A |
T |
9: 8,026,071 (GRCm39) |
L167Q |
probably damaging |
Het |
| Dennd5a |
A |
C |
7: 109,526,032 (GRCm39) |
|
probably null |
Het |
| Erich6 |
G |
A |
3: 58,526,229 (GRCm39) |
A591V |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,723,618 (GRCm39) |
V374A |
probably damaging |
Het |
| Fmn1 |
G |
A |
2: 113,467,080 (GRCm39) |
S1327N |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,369,442 (GRCm39) |
V1081E |
probably damaging |
Het |
| Gm5174 |
A |
G |
10: 86,492,797 (GRCm39) |
|
noncoding transcript |
Het |
| Gpaa1 |
A |
C |
15: 76,216,667 (GRCm39) |
|
probably benign |
Het |
| Grina |
T |
A |
15: 76,133,529 (GRCm39) |
L334Q |
probably damaging |
Het |
| Gulp1 |
T |
A |
1: 44,747,829 (GRCm39) |
Y27* |
probably null |
Het |
| Kdm3b |
A |
T |
18: 34,928,797 (GRCm39) |
I183F |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,460,025 (GRCm39) |
I758F |
probably damaging |
Het |
| Msi2 |
T |
C |
11: 88,237,914 (GRCm39) |
H346R |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,452,657 (GRCm39) |
I135F |
probably benign |
Het |
| Npr3 |
T |
G |
15: 11,848,599 (GRCm39) |
E202A |
probably benign |
Het |
| Nsun4 |
A |
T |
4: 115,891,248 (GRCm39) |
L377Q |
probably damaging |
Het |
| Oog2 |
A |
C |
4: 143,921,411 (GRCm39) |
H107P |
probably damaging |
Het |
| Or14c40 |
C |
A |
7: 86,313,602 (GRCm39) |
T244N |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,539,762 (GRCm39) |
L1032P |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 94,124,956 (GRCm39) |
R405* |
probably null |
Het |
| Pcdhb19 |
T |
A |
18: 37,632,243 (GRCm39) |
N679K |
probably benign |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Prol1 |
A |
T |
5: 88,476,530 (GRCm39) |
I307F |
unknown |
Het |
| Pycr1 |
T |
C |
11: 120,532,949 (GRCm39) |
I104V |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,335,887 (GRCm39) |
|
probably benign |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Skint3 |
A |
G |
4: 112,112,832 (GRCm39) |
I147M |
possibly damaging |
Het |
| Slc22a14 |
T |
G |
9: 119,007,498 (GRCm39) |
M304L |
probably benign |
Het |
| Slc22a14 |
T |
C |
9: 119,008,934 (GRCm39) |
N178S |
possibly damaging |
Het |
| Slco2b1 |
G |
T |
7: 99,309,333 (GRCm39) |
T666N |
probably benign |
Het |
| Smap1 |
T |
C |
1: 23,887,506 (GRCm39) |
M258V |
probably benign |
Het |
| Smr3a |
A |
T |
5: 88,156,013 (GRCm39) |
|
probably benign |
Het |
| Stt3b |
T |
A |
9: 115,083,969 (GRCm39) |
E402D |
probably damaging |
Het |
| Sync |
T |
C |
4: 129,200,535 (GRCm39) |
|
probably benign |
Het |
| Tbx20 |
T |
A |
9: 24,681,040 (GRCm39) |
I151F |
probably damaging |
Het |
| Tomm22 |
C |
A |
15: 79,555,206 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
C |
A |
9: 111,202,592 (GRCm39) |
Y1652* |
probably null |
Het |
| Trim34a |
T |
A |
7: 103,910,223 (GRCm39) |
C342S |
probably benign |
Het |
| Txnl4a |
T |
A |
18: 80,265,471 (GRCm39) |
M112K |
probably benign |
Het |
| Zfp146 |
A |
G |
7: 29,861,865 (GRCm39) |
V59A |
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 |
|
IGL01876:Slc2a1
|
APN |
4 |
118,990,575 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTATATGTGGCGTTGTCCC -3'
(R):5'- TTCTTCAGCACTGGTGGGAC -3'
Sequencing Primer
(F):5'- CTTGCTTGTCCTTTATAGTTTGAGC -3'
(R):5'- AAAGGCCCGAGCTCAGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation