Incidental Mutation 'R7845:Slc2a1'
ID |
606551 |
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 |
045899-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7845 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
118965942-118994527 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118993125 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 425
(V425A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030398]
[ENSMUST00000134105]
[ENSMUST00000144329]
[ENSMUST00000174372]
[ENSMUST00000208090]
|
AlphaFold |
P17809 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030398
AA Change: V425A
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000030398 Gene: ENSMUSG00000028645 AA Change: V425A
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 |
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (43/45) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,314,229 (GRCm39) |
H483R |
probably damaging |
Het |
Acot2 |
G |
T |
12: 84,039,762 (GRCm39) |
G424* |
probably null |
Het |
Adat2 |
G |
T |
10: 13,428,741 (GRCm39) |
|
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,436,959 (GRCm39) |
Y250H |
probably damaging |
Het |
Bcl2l2 |
A |
G |
14: 55,122,308 (GRCm39) |
Y157C |
unknown |
Het |
Bglap2 |
T |
A |
3: 88,286,001 (GRCm39) |
|
probably benign |
Het |
Ccdc14 |
T |
C |
16: 34,535,734 (GRCm39) |
L495P |
probably damaging |
Het |
Cobl |
T |
C |
11: 12,315,139 (GRCm39) |
D275G |
probably benign |
Het |
Cpne2 |
A |
G |
8: 95,277,832 (GRCm39) |
N72S |
probably benign |
Het |
D7Ertd443e |
A |
G |
7: 133,871,977 (GRCm39) |
F628S |
probably damaging |
Het |
Dars2 |
A |
T |
1: 160,869,318 (GRCm39) |
S644T |
probably benign |
Het |
Depdc5 |
A |
G |
5: 33,061,259 (GRCm39) |
|
probably null |
Het |
Dip2c |
A |
G |
13: 9,659,080 (GRCm39) |
S860G |
probably damaging |
Het |
Dnajc21 |
T |
G |
15: 10,447,227 (GRCm39) |
H507P |
probably damaging |
Het |
Eif2ak2 |
G |
T |
17: 79,171,327 (GRCm39) |
Q359K |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,663,712 (GRCm39) |
E448G |
probably benign |
Het |
Exoc3l |
G |
C |
8: 106,016,782 (GRCm39) |
S677R |
probably damaging |
Het |
Fads1 |
T |
A |
19: 10,171,405 (GRCm39) |
H345Q |
probably damaging |
Het |
Fam118a |
T |
A |
15: 84,930,052 (GRCm39) |
D93E |
possibly damaging |
Het |
Fam135a |
T |
C |
1: 24,068,738 (GRCm39) |
I710M |
probably benign |
Het |
Fbxw14 |
T |
A |
9: 109,116,671 (GRCm39) |
I13F |
probably damaging |
Het |
Gemin6 |
A |
G |
17: 80,533,090 (GRCm39) |
S8G |
probably benign |
Het |
Ints2 |
A |
T |
11: 86,129,089 (GRCm39) |
M498K |
possibly damaging |
Het |
Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
Mast1 |
C |
A |
8: 85,651,954 (GRCm39) |
E343* |
probably null |
Het |
Micu1 |
T |
C |
10: 59,675,607 (GRCm39) |
|
probably null |
Het |
Mis18bp1 |
A |
G |
12: 65,196,102 (GRCm39) |
I554T |
probably benign |
Het |
Mrps28 |
T |
A |
3: 8,988,775 (GRCm39) |
N28Y |
possibly damaging |
Het |
Mtpap |
T |
A |
18: 4,387,134 (GRCm39) |
S395T |
possibly damaging |
Het |
Muc16 |
A |
T |
9: 18,552,069 (GRCm39) |
H4741Q |
probably benign |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or13p8 |
T |
C |
4: 118,584,158 (GRCm39) |
M238T |
probably benign |
Het |
Or4k44 |
C |
A |
2: 111,368,512 (GRCm39) |
G41* |
probably null |
Het |
Or51f23 |
G |
A |
7: 102,453,492 (GRCm39) |
R269Q |
not run |
Het |
Ptx4 |
T |
C |
17: 25,343,928 (GRCm39) |
Y393H |
possibly damaging |
Het |
Ranbp2 |
G |
A |
10: 58,282,844 (GRCm39) |
V15M |
probably damaging |
Het |
Rbp3 |
G |
T |
14: 33,678,421 (GRCm39) |
A790S |
probably benign |
Het |
Rfx6 |
T |
A |
10: 51,554,122 (GRCm39) |
S73T |
probably benign |
Het |
Sec14l3 |
T |
A |
11: 4,017,972 (GRCm39) |
M84K |
probably benign |
Het |
Sec23b |
T |
A |
2: 144,401,316 (GRCm39) |
V59E |
possibly damaging |
Het |
Stab2 |
A |
T |
10: 86,832,758 (GRCm39) |
V89D |
probably benign |
Het |
Stra8 |
A |
G |
6: 34,907,899 (GRCm39) |
D117G |
probably benign |
Het |
Syt17 |
A |
T |
7: 118,009,194 (GRCm39) |
I338N |
possibly damaging |
Het |
Tas2r136 |
T |
A |
6: 132,754,833 (GRCm39) |
Y98F |
probably benign |
Het |
Tsks |
C |
A |
7: 44,603,168 (GRCm39) |
|
probably null |
Het |
Wdr62 |
A |
G |
7: 29,964,667 (GRCm39) |
V359A |
possibly damaging |
Het |
Xrcc6 |
T |
C |
15: 81,900,678 (GRCm39) |
|
probably null |
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 |
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 |
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'- CTATCTCCCTCAACAGGAACGG -3'
(R):5'- CTGTGACAGGCTCCAGAAAC -3'
Sequencing Primer
(F):5'- ATGTCCTATCTGAGCATCGTGGC -3'
(R):5'- CAGGCTCCAGAAACGGCATG -3'
|
Posted On |
2019-12-20 |