Incidental Mutation 'R1099:Slc2a5'
ID |
97867 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc2a5
|
Ensembl Gene |
ENSMUSG00000028976 |
Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 5 |
Synonyms |
GLUT5 |
MMRRC Submission |
039173-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R1099 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
150203801-150228625 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 150226636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 366
(N366S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030826
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030826]
|
AlphaFold |
Q9WV38 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030826
AA Change: N366S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000030826 Gene: ENSMUSG00000028976 AA Change: N366S
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: ENSMUST00000132426
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136610
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151504
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.1%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
Abca7 |
G |
T |
10: 79,849,577 (GRCm39) |
E1921* |
probably null |
Het |
Acnat2 |
G |
A |
4: 49,380,484 (GRCm39) |
T298I |
probably benign |
Het |
Agbl4 |
T |
C |
4: 110,812,860 (GRCm39) |
|
probably null |
Het |
Angpt2 |
T |
A |
8: 18,749,149 (GRCm39) |
T323S |
probably damaging |
Het |
Ano2 |
A |
G |
6: 125,784,810 (GRCm39) |
K299R |
probably damaging |
Het |
Armc2 |
G |
T |
10: 41,793,183 (GRCm39) |
Q814K |
probably benign |
Het |
Atp9b |
A |
C |
18: 80,901,841 (GRCm39) |
I263S |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,599,478 (GRCm39) |
I276T |
probably damaging |
Het |
Casp12 |
T |
A |
9: 5,352,204 (GRCm39) |
H135Q |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,914,225 (GRCm39) |
I621V |
probably benign |
Het |
Cd160 |
G |
A |
3: 96,713,156 (GRCm39) |
A36V |
probably damaging |
Het |
Ctcfl |
A |
T |
2: 172,954,153 (GRCm39) |
C315S |
probably damaging |
Het |
Egflam |
A |
G |
15: 7,281,903 (GRCm39) |
V411A |
probably benign |
Het |
Ezh1 |
T |
C |
11: 101,084,634 (GRCm39) |
|
probably null |
Het |
Fam171a1 |
T |
A |
2: 3,226,354 (GRCm39) |
S371T |
probably benign |
Het |
Hspbap1 |
T |
G |
16: 35,645,314 (GRCm39) |
F333C |
probably damaging |
Het |
Ky |
G |
C |
9: 102,414,923 (GRCm39) |
W278C |
probably damaging |
Het |
Lrig3 |
T |
A |
10: 125,842,883 (GRCm39) |
|
probably null |
Het |
Map3k6 |
A |
T |
4: 132,974,439 (GRCm39) |
S580C |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,254,790 (GRCm39) |
T219A |
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,148,156 (GRCm39) |
I789V |
probably benign |
Het |
Myo18a |
T |
A |
11: 77,709,727 (GRCm39) |
|
probably null |
Het |
Nos1 |
A |
G |
5: 118,061,460 (GRCm39) |
T929A |
probably damaging |
Het |
Or2a20 |
T |
C |
6: 43,194,558 (GRCm39) |
F237S |
probably damaging |
Het |
Or2z9 |
T |
A |
8: 72,854,503 (GRCm39) |
S300T |
probably benign |
Het |
Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
Palmd |
T |
C |
3: 116,716,874 (GRCm39) |
N541S |
possibly damaging |
Het |
Pdzd2 |
A |
G |
15: 12,373,173 (GRCm39) |
S2321P |
probably damaging |
Het |
Prdm8 |
T |
G |
5: 98,331,361 (GRCm39) |
I71S |
probably damaging |
Het |
Prkg1 |
A |
C |
19: 30,549,012 (GRCm39) |
S654R |
probably benign |
Het |
Psmf1 |
A |
T |
2: 151,560,590 (GRCm39) |
H260Q |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,422,513 (GRCm39) |
I179N |
possibly damaging |
Het |
Rreb1 |
A |
G |
13: 38,132,867 (GRCm39) |
K1681E |
probably benign |
Het |
Rtn1 |
A |
T |
12: 72,351,241 (GRCm39) |
|
probably null |
Het |
Scaf4 |
T |
A |
16: 90,059,986 (GRCm39) |
I37F |
unknown |
Het |
Sema4c |
A |
G |
1: 36,591,191 (GRCm39) |
S383P |
probably damaging |
Het |
Shc4 |
G |
T |
2: 125,564,764 (GRCm39) |
D178E |
probably benign |
Het |
Slc6a3 |
A |
G |
13: 73,715,760 (GRCm39) |
N465S |
probably benign |
Het |
Tbc1d9b |
C |
A |
11: 50,037,135 (GRCm39) |
D261E |
probably benign |
Het |
Tdrd3 |
A |
T |
14: 87,724,675 (GRCm39) |
T359S |
probably damaging |
Het |
Thap3 |
T |
C |
4: 152,067,788 (GRCm39) |
M97V |
probably benign |
Het |
Thg1l |
T |
A |
11: 45,844,988 (GRCm39) |
Q88L |
possibly damaging |
Het |
Tjp3 |
T |
C |
10: 81,109,657 (GRCm39) |
T849A |
probably benign |
Het |
Tomm70a |
G |
T |
16: 56,963,180 (GRCm39) |
D400Y |
probably damaging |
Het |
Trak2 |
T |
C |
1: 58,961,000 (GRCm39) |
I177V |
probably benign |
Het |
Trim66 |
T |
C |
7: 109,074,661 (GRCm39) |
I533M |
probably benign |
Het |
Ush2a |
T |
A |
1: 188,380,545 (GRCm39) |
Y2285N |
probably benign |
Het |
Ush2a |
C |
T |
1: 188,596,836 (GRCm39) |
P3859S |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTAGTAAAGGGACCAGGCACCAGC -3'
(R):5'- CCTCCCATCCTGTGCCAAAAGGAGC -3'
Sequencing Primer
(F):5'- GACCAGGCACCAGCATGAG -3'
(R):5'- GAGATGCCACTTGGGGTC -3'
|
Posted On |
2014-01-05 |