Incidental Mutation 'IGL01071:Slc2a5'
| ID |
50854 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc2a5
|
| Ensembl Gene |
ENSMUSG00000028976 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 5 |
| Synonyms |
GLUT5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL01071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
150203801-150228625 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to G
at 150205190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030826]
|
| AlphaFold |
Q9WV38 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030826
|
| SMART Domains |
Protein: ENSMUSP00000030826
Gene: ENSMUSG00000028976
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
16 |
397 |
1e-19 |
PFAM |
|
Pfam:Sugar_tr
|
19 |
474 |
2.1e-138 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126212
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a fructose transporter responsible for fructose uptake by the small intestine. The encoded protein also is necessary for the increase in blood pressure due to high dietary fructose consumption. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal cochlear morphology and physiology with no detectable alterations in outer hair cell morphology, electromotility or nonlinear capacitance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
A |
C |
6: 65,930,137 (GRCm39) |
D124A |
probably damaging |
Het |
| Arhgef17 |
C |
A |
7: 100,534,907 (GRCm39) |
V1137L |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,873,127 (GRCm39) |
D462G |
possibly damaging |
Het |
| Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
| Cadps |
C |
T |
14: 12,509,091 (GRCm38) |
|
probably null |
Het |
| Camk2a |
T |
C |
18: 61,113,228 (GRCm39) |
|
probably null |
Het |
| Capn10 |
T |
A |
1: 92,872,797 (GRCm39) |
W508R |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,397,212 (GRCm39) |
|
probably null |
Het |
| Crisp4 |
A |
G |
1: 18,207,231 (GRCm39) |
V19A |
probably benign |
Het |
| Depdc1b |
A |
T |
13: 108,493,975 (GRCm39) |
Y121F |
probably benign |
Het |
| Dsg1b |
T |
A |
18: 20,542,272 (GRCm39) |
S926R |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
| Gm26938 |
A |
C |
5: 139,794,228 (GRCm39) |
V117G |
possibly damaging |
Het |
| Keg1 |
T |
A |
19: 12,696,364 (GRCm39) |
Y183N |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,457,875 (GRCm39) |
I109N |
probably damaging |
Het |
| Or12j3 |
C |
T |
7: 139,953,098 (GRCm39) |
A142T |
probably benign |
Het |
| Or13a20 |
C |
T |
7: 140,232,827 (GRCm39) |
H312Y |
possibly damaging |
Het |
| Or14a259 |
T |
C |
7: 86,012,768 (GRCm39) |
K259R |
possibly damaging |
Het |
| Or4c112 |
A |
G |
2: 88,853,519 (GRCm39) |
V276A |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,738 (GRCm39) |
E88G |
possibly damaging |
Het |
| Pde6b |
G |
A |
5: 108,567,581 (GRCm39) |
W290* |
probably null |
Het |
| Phf20 |
T |
A |
2: 156,136,008 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,798,921 (GRCm39) |
H1830Q |
probably benign |
Het |
| Proc |
T |
C |
18: 32,256,770 (GRCm39) |
D299G |
probably damaging |
Het |
| Psmd14 |
A |
G |
2: 61,630,407 (GRCm39) |
T306A |
probably benign |
Het |
| Rab32 |
G |
A |
10: 10,433,591 (GRCm39) |
A81V |
probably damaging |
Het |
| Samd14 |
G |
A |
11: 94,912,294 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,678,993 (GRCm39) |
C12S |
probably damaging |
Het |
| Sipa1l3 |
C |
T |
7: 29,023,645 (GRCm39) |
V663M |
possibly damaging |
Het |
| Tasor |
T |
A |
14: 27,164,579 (GRCm39) |
|
probably null |
Het |
| Tbkbp1 |
T |
C |
11: 97,040,388 (GRCm39) |
I9V |
probably damaging |
Het |
| Trip10 |
C |
A |
17: 57,561,332 (GRCm39) |
R196S |
possibly damaging |
Het |
| Vav1 |
T |
C |
17: 57,606,176 (GRCm39) |
Y267H |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,687,410 (GRCm39) |
K207R |
probably benign |
Het |
|
| Other mutations in Slc2a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Slc2a5
|
APN |
4 |
150,210,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01977:Slc2a5
|
APN |
4 |
150,226,675 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03271:Slc2a5
|
APN |
4 |
150,220,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Slc2a5
|
UTSW |
4 |
150,223,942 (GRCm39) |
missense |
probably benign |
0.39 |
|
BB016:Slc2a5
|
UTSW |
4 |
150,223,942 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0760:Slc2a5
|
UTSW |
4 |
150,224,124 (GRCm39) |
missense |
probably benign |
|
|
R0906:Slc2a5
|
UTSW |
4 |
150,227,287 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1099:Slc2a5
|
UTSW |
4 |
150,226,636 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1809:Slc2a5
|
UTSW |
4 |
150,227,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2099:Slc2a5
|
UTSW |
4 |
150,227,634 (GRCm39) |
nonsense |
probably null |
|
|
R2152:Slc2a5
|
UTSW |
4 |
150,210,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2253:Slc2a5
|
UTSW |
4 |
150,224,447 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2696:Slc2a5
|
UTSW |
4 |
150,205,203 (GRCm39) |
missense |
probably benign |
|
|
R4835:Slc2a5
|
UTSW |
4 |
150,224,462 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4926:Slc2a5
|
UTSW |
4 |
150,205,199 (GRCm39) |
nonsense |
probably null |
|
|
R5123:Slc2a5
|
UTSW |
4 |
150,224,262 (GRCm39) |
nonsense |
probably null |
|
|
R5397:Slc2a5
|
UTSW |
4 |
150,224,280 (GRCm39) |
splice site |
probably null |
|
|
R6209:Slc2a5
|
UTSW |
4 |
150,227,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6342:Slc2a5
|
UTSW |
4 |
150,223,983 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6547:Slc2a5
|
UTSW |
4 |
150,220,076 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7340:Slc2a5
|
UTSW |
4 |
150,224,439 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7507:Slc2a5
|
UTSW |
4 |
150,210,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7537:Slc2a5
|
UTSW |
4 |
150,213,526 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7572:Slc2a5
|
UTSW |
4 |
150,226,642 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7751:Slc2a5
|
UTSW |
4 |
150,227,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7929:Slc2a5
|
UTSW |
4 |
150,223,942 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8058:Slc2a5
|
UTSW |
4 |
150,227,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8318:Slc2a5
|
UTSW |
4 |
150,224,115 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8477:Slc2a5
|
UTSW |
4 |
150,210,119 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8498:Slc2a5
|
UTSW |
4 |
150,210,590 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8975:Slc2a5
|
UTSW |
4 |
150,224,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation