Incidental Mutation 'R7692:Slc2a1'
| ID |
593439 |
| 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 |
045756-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7692 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118965942-118994527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118993462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 433
(V433A)
|
| 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: V433A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030398
Gene: ENSMUSG00000028645
AA Change: V433A
| 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: 99.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
G |
A |
8: 43,973,832 (GRCm39) |
T390I |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,287,456 (GRCm39) |
|
probably null |
Het |
| Ado |
G |
T |
10: 67,384,265 (GRCm39) |
Y113* |
probably null |
Het |
| Angptl1 |
A |
G |
1: 156,672,885 (GRCm39) |
E237G |
probably damaging |
Het |
| Arid2 |
T |
A |
15: 96,254,578 (GRCm39) |
Y141* |
probably null |
Het |
| Clvs1 |
T |
C |
4: 9,350,739 (GRCm39) |
I183T |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,014,295 (GRCm39) |
K1817E |
probably benign |
Het |
| Eif3e |
C |
A |
15: 43,126,642 (GRCm39) |
R271L |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,703,085 (GRCm39) |
V1611A |
probably damaging |
Het |
| Enpp3 |
G |
T |
10: 24,660,739 (GRCm39) |
Y634* |
probably null |
Het |
| Evi5l |
C |
T |
8: 4,250,886 (GRCm39) |
R394W |
probably damaging |
Het |
| Fcgr3 |
A |
C |
1: 170,881,661 (GRCm39) |
F156V |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,661,402 (GRCm39) |
T294S |
probably benign |
Het |
| Gabrb3 |
A |
G |
7: 57,466,203 (GRCm39) |
Q339R |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,292,167 (GRCm39) |
T606S |
probably benign |
Het |
| Gfod1 |
T |
C |
13: 43,354,528 (GRCm39) |
Q149R |
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,788,071 (GRCm39) |
V276A |
probably benign |
Het |
| Hc |
C |
A |
2: 34,914,161 (GRCm39) |
V849F |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,459,627 (GRCm39) |
I832T |
possibly damaging |
Het |
| Hspa14 |
T |
C |
2: 3,497,643 (GRCm39) |
D283G |
probably damaging |
Het |
| Lztfl1 |
C |
T |
9: 123,541,536 (GRCm39) |
W94* |
probably null |
Het |
| Lzts3 |
T |
C |
2: 130,477,306 (GRCm39) |
S381G |
probably benign |
Het |
| Mgat2 |
A |
G |
12: 69,231,444 (GRCm39) |
Y6C |
probably damaging |
Het |
| Mrpl30 |
T |
C |
1: 37,934,439 (GRCm39) |
I27T |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,406,966 (GRCm39) |
T1045S |
unknown |
Het |
| Nlrp4a |
G |
A |
7: 26,148,690 (GRCm39) |
R99Q |
probably benign |
Het |
| Or10g1 |
T |
C |
14: 52,647,945 (GRCm39) |
Y128C |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,006 (GRCm39) |
T18A |
possibly damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,209,132 (GRCm39) |
L495P |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,109,776 (GRCm39) |
D178G |
possibly damaging |
Het |
| Prl5a1 |
C |
G |
13: 28,333,997 (GRCm39) |
L167V |
probably damaging |
Het |
| Sardh |
A |
G |
2: 27,087,651 (GRCm39) |
V740A |
probably benign |
Het |
| Sbno1 |
T |
G |
5: 124,543,709 (GRCm39) |
T277P |
probably benign |
Het |
| Slc4a10 |
T |
C |
2: 62,134,308 (GRCm39) |
V1008A |
possibly damaging |
Het |
| Smarcal1 |
T |
G |
1: 72,625,179 (GRCm39) |
S109A |
probably benign |
Het |
| Speg |
A |
G |
1: 75,377,834 (GRCm39) |
D864G |
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,026,976 (GRCm39) |
I313T |
probably benign |
Het |
| Tab2 |
A |
T |
10: 7,786,869 (GRCm39) |
D614E |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,544,610 (GRCm39) |
K2246E |
probably damaging |
Het |
| Timm23 |
A |
G |
14: 31,902,520 (GRCm39) |
S208P |
probably damaging |
Het |
| Tmem229a |
C |
A |
6: 24,955,211 (GRCm39) |
C181F |
probably benign |
Het |
| Ugdh |
T |
C |
5: 65,574,958 (GRCm39) |
Y356C |
probably damaging |
Het |
| Ugt2a1 |
A |
G |
5: 87,634,586 (GRCm39) |
L7P |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,619,905 (GRCm39) |
D272G |
possibly damaging |
Het |
| Vmn1r206 |
T |
A |
13: 22,804,827 (GRCm39) |
I127F |
probably damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,505,490 (GRCm39) |
Y68C |
possibly damaging |
Het |
| Zfand6 |
G |
A |
7: 84,283,141 (GRCm39) |
P72L |
not run |
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 |
|
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'- GTTTCTGGAGCCTGTCACAG -3'
(R):5'- TGTGCTCCAGAGAGATCCTTGG -3'
Sequencing Primer
(F):5'- GTCACAGGACAGGTTTTCATAGCAC -3'
(R):5'- AGAGATCCTTGGGCTGCAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation