Incidental Mutation 'IGL01661:Slc2a3'
| ID |
103166 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc2a3
|
| Ensembl Gene |
ENSMUSG00000003153 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 3 |
| Synonyms |
Glut-3, Glut3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01661
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
122704768-122778599 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122706915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 486
(V486A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032476]
[ENSMUST00000166135]
|
| AlphaFold |
P32037 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032476
AA Change: V486A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032476
Gene: ENSMUSG00000003153
AA Change: V486A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
13 |
465 |
5.9e-165 |
PFAM |
|
Pfam:MFS_1
|
16 |
385 |
7.1e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166135
|
| SMART Domains |
Protein: ENSMUSP00000132586
Gene: ENSMUSG00000003153
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
13 |
63 |
9.8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169979
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mutations cause embryonic lethality. Heterozygotes for a null allele show partial perinatal lethality and impaired placental transport. Heterozygotes for a gene trap allele show abnormal brain wave patterns, increased startle reflex, reduced prepulse inhibition and increased anxiety. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
C |
2: 25,333,007 (GRCm39) |
F1569L |
probably benign |
Het |
| Acly |
A |
G |
11: 100,405,168 (GRCm39) |
|
probably benign |
Het |
| Adgre5 |
T |
A |
8: 84,454,564 (GRCm39) |
N313I |
probably damaging |
Het |
| Ccdc17 |
A |
G |
4: 116,455,063 (GRCm39) |
H206R |
probably benign |
Het |
| Cenpo |
C |
T |
12: 4,284,023 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
G |
T |
2: 57,889,494 (GRCm39) |
A365S |
probably benign |
Het |
| Josd1 |
G |
A |
15: 79,561,328 (GRCm39) |
P160L |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,097,319 (GRCm39) |
R1575L |
possibly damaging |
Het |
| Mrpl32 |
C |
T |
13: 14,785,178 (GRCm39) |
V153I |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,599,308 (GRCm39) |
K1452R |
possibly damaging |
Het |
| Nob1 |
T |
C |
8: 108,139,814 (GRCm39) |
Y315C |
probably damaging |
Het |
| Or4c58 |
T |
A |
2: 89,674,439 (GRCm39) |
M293L |
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,846 (GRCm39) |
I256M |
possibly damaging |
Het |
| Prex2 |
A |
G |
1: 11,278,838 (GRCm39) |
N1389S |
probably benign |
Het |
| Ptprd |
G |
A |
4: 75,872,320 (GRCm39) |
T1383M |
probably damaging |
Het |
| Ralbp1 |
A |
G |
17: 66,168,384 (GRCm39) |
L307P |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,895,036 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
T |
A |
10: 59,959,692 (GRCm39) |
H140Q |
probably damaging |
Het |
| Tmc4 |
A |
G |
7: 3,669,926 (GRCm39) |
I610T |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,888,544 (GRCm39) |
|
probably benign |
Het |
| Ttll8 |
T |
C |
15: 88,820,202 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc2a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02056:Slc2a3
|
APN |
6 |
122,712,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02267:Slc2a3
|
APN |
6 |
122,716,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02873:Slc2a3
|
APN |
6 |
122,717,373 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03275:Slc2a3
|
APN |
6 |
122,713,701 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1014:Slc2a3
|
UTSW |
6 |
122,708,525 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1464:Slc2a3
|
UTSW |
6 |
122,714,269 (GRCm39) |
splice site |
probably benign |
|
|
R1920:Slc2a3
|
UTSW |
6 |
122,713,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1990:Slc2a3
|
UTSW |
6 |
122,713,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3809:Slc2a3
|
UTSW |
6 |
122,709,388 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4094:Slc2a3
|
UTSW |
6 |
122,712,527 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4537:Slc2a3
|
UTSW |
6 |
122,714,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Slc2a3
|
UTSW |
6 |
122,714,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5186:Slc2a3
|
UTSW |
6 |
122,712,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5784:Slc2a3
|
UTSW |
6 |
122,712,376 (GRCm39) |
splice site |
probably null |
|
|
R9087:Slc2a3
|
UTSW |
6 |
122,717,408 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9403:Slc2a3
|
UTSW |
6 |
122,713,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9636:Slc2a3
|
UTSW |
6 |
122,709,362 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9639:Slc2a3
|
UTSW |
6 |
122,714,199 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-01-21 |
Incidental Mutation