Incidental Mutation 'R1561:Slc2a1'
| ID |
170591 |
| 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 |
039600-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1561 (G1)
|
| Quality Score |
132 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118965942-118994527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118993606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 481
(E481G)
|
| 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: E481G
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030398
Gene: ENSMUSG00000028645
AA Change: E481G
| 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 |
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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,431 (GRCm39) |
N69D |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
| Ap1g2 |
T |
C |
14: 55,342,344 (GRCm39) |
E171G |
probably damaging |
Het |
| Atg7 |
T |
C |
6: 114,678,133 (GRCm39) |
V341A |
possibly damaging |
Het |
| Bace1 |
G |
T |
9: 45,750,492 (GRCm39) |
R56L |
probably benign |
Het |
| Cd200l1 |
A |
G |
16: 45,262,875 (GRCm39) |
V88A |
possibly damaging |
Het |
| Chfr |
A |
T |
5: 110,306,674 (GRCm39) |
D472V |
probably benign |
Het |
| Ckap2l |
G |
A |
2: 129,112,645 (GRCm39) |
T621I |
probably benign |
Het |
| Cmip |
A |
G |
8: 118,180,589 (GRCm39) |
T554A |
probably benign |
Het |
| Crocc |
C |
T |
4: 140,757,579 (GRCm39) |
E905K |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| F5 |
C |
A |
1: 164,014,472 (GRCm39) |
S581* |
probably null |
Het |
| Fam227a |
T |
A |
15: 79,520,963 (GRCm39) |
Y291F |
possibly damaging |
Het |
| Gpr151 |
A |
T |
18: 42,712,221 (GRCm39) |
S152R |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,820,505 (GRCm39) |
|
probably null |
Het |
| Kcna5 |
T |
C |
6: 126,511,546 (GRCm39) |
Y194C |
probably damaging |
Het |
| Khsrp |
A |
G |
17: 57,332,639 (GRCm39) |
S214P |
probably benign |
Het |
| Mrgprb1 |
C |
G |
7: 48,096,873 (GRCm39) |
|
probably null |
Het |
| Mrnip |
C |
T |
11: 50,067,676 (GRCm39) |
T30I |
probably damaging |
Het |
| Mtus2 |
A |
C |
5: 148,013,362 (GRCm39) |
K52Q |
probably benign |
Het |
| Naca |
G |
T |
10: 127,876,267 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
G |
11: 58,926,899 (GRCm39) |
T5539P |
probably damaging |
Het |
| Or13p3 |
T |
A |
4: 118,566,751 (GRCm39) |
I49N |
probably damaging |
Het |
| Or9m1 |
C |
T |
2: 87,733,505 (GRCm39) |
V172I |
probably benign |
Het |
| Ovca2 |
A |
G |
11: 75,068,805 (GRCm39) |
L198P |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,518 (GRCm39) |
V308A |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,341,445 (GRCm39) |
I99M |
unknown |
Het |
| Polr3b |
T |
A |
10: 84,470,776 (GRCm39) |
M139K |
probably damaging |
Het |
| Prkag2 |
T |
C |
5: 25,076,593 (GRCm39) |
Y191C |
probably damaging |
Het |
| Prss47 |
A |
T |
13: 65,194,062 (GRCm39) |
C278S |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,247,536 (GRCm39) |
T600A |
probably damaging |
Het |
| Ruvbl1 |
T |
C |
6: 88,456,136 (GRCm39) |
V70A |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,129,217 (GRCm39) |
V726A |
probably benign |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,516,451 (GRCm39) |
N603S |
probably benign |
Het |
| Slc35a5 |
A |
C |
16: 44,971,884 (GRCm39) |
S127A |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,199,694 (GRCm39) |
G2978* |
probably null |
Het |
| Srrt |
T |
A |
5: 137,298,281 (GRCm39) |
E297V |
probably benign |
Het |
| Srsf4 |
T |
A |
4: 131,625,006 (GRCm39) |
D134E |
probably damaging |
Het |
| Tdrd6 |
G |
A |
17: 43,936,515 (GRCm39) |
S1511L |
probably damaging |
Het |
| Tmem65 |
T |
A |
15: 58,694,707 (GRCm39) |
I91F |
probably benign |
Het |
| Top2b |
A |
G |
14: 16,398,993 (GRCm38) |
K538E |
possibly damaging |
Het |
| Trappc8 |
G |
A |
18: 20,974,680 (GRCm39) |
R883* |
probably null |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Vav3 |
T |
C |
3: 109,402,154 (GRCm39) |
|
probably null |
Het |
| Vmn1r42 |
C |
T |
6: 89,822,363 (GRCm39) |
G69S |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,379,100 (GRCm39) |
Y5333* |
probably null |
Het |
| Zfp994 |
A |
C |
17: 22,420,206 (GRCm39) |
F248V |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAAAGGTTCAGAGGTTCGTGTTG -3'
(R):5'- ACTTCACTGCTGGCTGAGGAAAGG -3'
Sequencing Primer
(F):5'- AGAGCATGGCAGGACCC -3'
(R):5'- AAGAGGTCTCATCTAGCTGCCT -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation