Incidental Mutation 'IGL00819:Slc2a5'
ID |
14080 |
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 # |
IGL00819
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
150203801-150228625 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 150210113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 33
(Y33H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030826
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030826]
|
AlphaFold |
Q9WV38 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030826
AA Change: Y33H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030826 Gene: ENSMUSG00000028976 AA Change: Y33H
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: ENSMUST00000136610
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd35 |
A |
T |
3: 96,590,350 (GRCm39) |
|
probably null |
Het |
Apaf1 |
G |
T |
10: 90,833,202 (GRCm39) |
|
probably null |
Het |
Ash1l |
T |
A |
3: 88,915,043 (GRCm39) |
V1891E |
possibly damaging |
Het |
Atm |
A |
G |
9: 53,429,831 (GRCm39) |
S402P |
probably damaging |
Het |
Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
Ccdc150 |
T |
A |
1: 54,302,732 (GRCm39) |
N117K |
probably damaging |
Het |
Ccl7 |
A |
G |
11: 81,937,401 (GRCm39) |
N45S |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,364,176 (GRCm39) |
|
probably null |
Het |
Efcab6 |
A |
G |
15: 83,902,843 (GRCm39) |
I169T |
probably benign |
Het |
Exo1 |
T |
C |
1: 175,723,803 (GRCm39) |
V383A |
probably benign |
Het |
Fbxl2 |
A |
G |
9: 113,813,047 (GRCm39) |
|
probably benign |
Het |
Fryl |
A |
T |
5: 73,305,451 (GRCm39) |
V106D |
possibly damaging |
Het |
Fsip1 |
C |
A |
2: 118,080,393 (GRCm39) |
R121L |
possibly damaging |
Het |
Igsf9 |
T |
C |
1: 172,324,203 (GRCm39) |
S789P |
probably benign |
Het |
Klf7 |
T |
C |
1: 64,081,476 (GRCm39) |
D284G |
possibly damaging |
Het |
Mbtd1 |
A |
G |
11: 93,822,637 (GRCm39) |
|
probably null |
Het |
Mef2c |
A |
T |
13: 83,773,499 (GRCm39) |
D125V |
probably damaging |
Het |
Nectin4 |
T |
C |
1: 171,212,254 (GRCm39) |
L284S |
probably damaging |
Het |
Numa1 |
G |
T |
7: 101,641,917 (GRCm39) |
G122W |
possibly damaging |
Het |
Pcbd1 |
A |
C |
10: 60,927,919 (GRCm39) |
E27A |
probably benign |
Het |
Pclo |
A |
G |
5: 14,908,860 (GRCm39) |
N5056S |
unknown |
Het |
Pelp1 |
G |
A |
11: 70,285,444 (GRCm39) |
P808L |
unknown |
Het |
Ppp1r12a |
T |
C |
10: 108,076,682 (GRCm39) |
S304P |
probably damaging |
Het |
Ppp1r7 |
T |
A |
1: 93,273,978 (GRCm39) |
D51E |
probably benign |
Het |
Rassf6 |
T |
C |
5: 90,751,930 (GRCm39) |
K308E |
probably benign |
Het |
Rel |
A |
T |
11: 23,693,029 (GRCm39) |
F335I |
probably benign |
Het |
Scnn1g |
A |
G |
7: 121,339,660 (GRCm39) |
E153G |
probably benign |
Het |
Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
Tpra1 |
T |
A |
6: 88,886,318 (GRCm39) |
Y65* |
probably null |
Het |
Trip12 |
C |
T |
1: 84,731,993 (GRCm39) |
G994S |
probably damaging |
Het |
Trnt1 |
T |
A |
6: 106,753,183 (GRCm39) |
Y195* |
probably null |
Het |
Ttn |
A |
G |
2: 76,573,394 (GRCm39) |
I17506T |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,203,593 (GRCm39) |
T4761I |
possibly damaging |
Het |
Vmn1r204 |
T |
A |
13: 22,741,117 (GRCm39) |
Y249* |
probably null |
Het |
Zfp212 |
C |
T |
6: 47,908,256 (GRCm39) |
P412S |
probably damaging |
Het |
Zhx1 |
A |
G |
15: 57,918,090 (GRCm39) |
V52A |
probably benign |
Het |
Zpbp2 |
A |
T |
11: 98,448,418 (GRCm39) |
H245L |
probably damaging |
Het |
|
Other mutations in Slc2a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01071:Slc2a5
|
APN |
4 |
150,205,190 (GRCm39) |
utr 5 prime |
probably benign |
|
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 |
2012-12-06 |