Incidental Mutation 'R0906:Slc2a5'
| ID |
83318 |
| 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 |
039064-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R0906 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150119283-150144169 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150142830 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 401
(I401T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030826]
|
| AlphaFold |
Q9WV38 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030826
AA Change: I401T
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030826
Gene: ENSMUSG00000028976
AA Change: I401T
| 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
|
| Meta Mutation Damage Score |
0.6386 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
T |
A |
1: 130,737,693 (GRCm38) |
|
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,027,826 (GRCm38) |
H332R |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,356,941 (GRCm38) |
P47L |
possibly damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,510,871 (GRCm38) |
M1V |
probably null |
Het |
| Dcbld2 |
A |
G |
16: 58,455,247 (GRCm38) |
E442G |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 182,000,515 (GRCm38) |
T660A |
probably damaging |
Het |
| Gm4945 |
A |
C |
17: 47,042,870 (GRCm38) |
|
noncoding transcript |
Het |
| Gm6729 |
T |
C |
10: 86,540,592 (GRCm38) |
|
noncoding transcript |
Het |
| Golga1 |
G |
A |
2: 39,047,643 (GRCm38) |
R204W |
probably damaging |
Het |
| Guf1 |
T |
C |
5: 69,566,386 (GRCm38) |
I348T |
probably damaging |
Het |
| Htra4 |
T |
A |
8: 25,037,144 (GRCm38) |
I212L |
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,249,188 (GRCm38) |
R750Q |
probably benign |
Het |
| Lgalsl2 |
T |
C |
7: 5,359,829 (GRCm38) |
I153T |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,994,010 (GRCm38) |
A199T |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,161,854 (GRCm38) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,161,860 (GRCm38) |
G556D |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,277,590 (GRCm38) |
V1520A |
probably benign |
Het |
| Nuak1 |
C |
T |
10: 84,375,280 (GRCm38) |
V315I |
probably damaging |
Het |
| Nup205 |
G |
T |
6: 35,236,892 (GRCm38) |
G1740C |
probably damaging |
Het |
| Or1r1 |
G |
C |
11: 73,983,859 (GRCm38) |
L250V |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,676,686 (GRCm38) |
|
probably benign |
Het |
| Pik3r6 |
T |
C |
11: 68,536,101 (GRCm38) |
|
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,253,397 (GRCm38) |
F1336I |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,514,947 (GRCm38) |
I355T |
possibly damaging |
Het |
| Rgs22 |
A |
T |
15: 36,103,902 (GRCm38) |
|
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,801,928 (GRCm38) |
M312K |
probably damaging |
Het |
| Slc9a8 |
G |
T |
2: 167,434,867 (GRCm38) |
|
probably benign |
Het |
| Stab1 |
T |
C |
14: 31,145,249 (GRCm38) |
E1718G |
probably benign |
Het |
| Terb1 |
A |
T |
8: 104,452,636 (GRCm38) |
I640N |
probably damaging |
Het |
| Tmem217 |
A |
G |
17: 29,526,516 (GRCm38) |
L80P |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,328,593 (GRCm38) |
P810L |
probably benign |
Het |
| Ttbk2 |
G |
A |
2: 120,783,781 (GRCm38) |
R151C |
probably damaging |
Het |
| Vmn2r88 |
T |
G |
14: 51,418,209 (GRCm38) |
L626R |
probably damaging |
Het |
|
| Other mutations in Slc2a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Slc2a5
|
APN |
4 |
150,125,656 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01071:Slc2a5
|
APN |
4 |
150,120,733 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL01977:Slc2a5
|
APN |
4 |
150,142,218 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03271:Slc2a5
|
APN |
4 |
150,135,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB006:Slc2a5
|
UTSW |
4 |
150,139,485 (GRCm38) |
missense |
probably benign |
0.39 |
|
BB016:Slc2a5
|
UTSW |
4 |
150,139,485 (GRCm38) |
missense |
probably benign |
0.39 |
|
R0760:Slc2a5
|
UTSW |
4 |
150,139,667 (GRCm38) |
missense |
probably benign |
|
|
R1099:Slc2a5
|
UTSW |
4 |
150,142,179 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1809:Slc2a5
|
UTSW |
4 |
150,143,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2099:Slc2a5
|
UTSW |
4 |
150,143,177 (GRCm38) |
nonsense |
probably null |
|
|
R2152:Slc2a5
|
UTSW |
4 |
150,125,638 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2253:Slc2a5
|
UTSW |
4 |
150,139,990 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R2696:Slc2a5
|
UTSW |
4 |
150,120,746 (GRCm38) |
missense |
probably benign |
|
|
R4835:Slc2a5
|
UTSW |
4 |
150,140,005 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4926:Slc2a5
|
UTSW |
4 |
150,120,742 (GRCm38) |
nonsense |
probably null |
|
|
R5123:Slc2a5
|
UTSW |
4 |
150,139,805 (GRCm38) |
nonsense |
probably null |
|
|
R5397:Slc2a5
|
UTSW |
4 |
150,139,823 (GRCm38) |
splice site |
probably null |
|
|
R6209:Slc2a5
|
UTSW |
4 |
150,143,100 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6342:Slc2a5
|
UTSW |
4 |
150,139,526 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6547:Slc2a5
|
UTSW |
4 |
150,135,619 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7340:Slc2a5
|
UTSW |
4 |
150,139,982 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7507:Slc2a5
|
UTSW |
4 |
150,125,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7537:Slc2a5
|
UTSW |
4 |
150,129,069 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7572:Slc2a5
|
UTSW |
4 |
150,142,185 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7751:Slc2a5
|
UTSW |
4 |
150,143,134 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7929:Slc2a5
|
UTSW |
4 |
150,139,485 (GRCm38) |
missense |
probably benign |
0.39 |
|
R8058:Slc2a5
|
UTSW |
4 |
150,143,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8318:Slc2a5
|
UTSW |
4 |
150,139,658 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8477:Slc2a5
|
UTSW |
4 |
150,125,662 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8498:Slc2a5
|
UTSW |
4 |
150,126,133 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8975:Slc2a5
|
UTSW |
4 |
150,139,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGTAAGCCACTGTGCCGTCC -3'
(R):5'- CAATGAATGTCCTGCCCTTGGTCTC -3'
Sequencing Primer
(F):5'- ACTGTGCCGTCCAGGAAAG -3'
(R):5'- TCTCTGGGACGACCATGAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation