Incidental Mutation 'R5123:Slc2a5'
ID |
393393 |
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 |
042711-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R5123 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
150203801-150228625 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 150224262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 290
(S290*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030826
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030826]
|
AlphaFold |
Q9WV38 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030826
AA Change: S290*
|
SMART Domains |
Protein: ENSMUSP00000030826 Gene: ENSMUSG00000028976 AA Change: S290*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
98% (53/54) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
G |
A |
17: 24,603,434 (GRCm39) |
G542D |
possibly damaging |
Het |
Adh6b |
A |
G |
3: 138,063,450 (GRCm39) |
Y343C |
probably damaging |
Het |
Adsl |
T |
A |
15: 80,836,495 (GRCm39) |
|
probably null |
Het |
Apob |
T |
A |
12: 8,057,630 (GRCm39) |
|
probably null |
Het |
Atp6ap1l |
T |
A |
13: 91,047,017 (GRCm39) |
|
probably benign |
Het |
Cacnb3 |
A |
G |
15: 98,537,750 (GRCm39) |
D74G |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,411,696 (GRCm39) |
|
probably benign |
Het |
Clca3a2 |
T |
A |
3: 144,512,104 (GRCm39) |
D544V |
probably damaging |
Het |
Col3a1 |
G |
A |
1: 45,372,756 (GRCm39) |
|
probably benign |
Het |
D7Ertd443e |
A |
G |
7: 133,951,397 (GRCm39) |
|
probably null |
Het |
Dscam |
T |
C |
16: 96,573,637 (GRCm39) |
D775G |
probably damaging |
Het |
Eif2b3 |
T |
A |
4: 116,879,408 (GRCm39) |
M16K |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,840,771 (GRCm39) |
Y281C |
probably damaging |
Het |
Epha2 |
T |
A |
4: 141,036,176 (GRCm39) |
L204Q |
possibly damaging |
Het |
Filip1l |
A |
C |
16: 57,391,025 (GRCm39) |
I538L |
possibly damaging |
Het |
Gcnt2 |
T |
A |
13: 41,071,831 (GRCm39) |
V158D |
probably damaging |
Het |
Gnaq |
A |
G |
19: 16,309,449 (GRCm39) |
N162S |
probably benign |
Het |
Haus5 |
A |
T |
7: 30,353,651 (GRCm39) |
N575K |
probably benign |
Het |
Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
Igsf5 |
A |
G |
16: 96,174,279 (GRCm39) |
D103G |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,726,569 (GRCm39) |
D297G |
possibly damaging |
Het |
Net1 |
C |
T |
13: 3,936,623 (GRCm39) |
R314H |
probably damaging |
Het |
Or4b1c |
C |
A |
2: 90,126,512 (GRCm39) |
R231L |
probably benign |
Het |
Or4k51 |
T |
A |
2: 111,584,897 (GRCm39) |
V101D |
probably damaging |
Het |
Pcsk4 |
C |
A |
10: 80,157,979 (GRCm39) |
Q586H |
probably null |
Het |
Pramel11 |
A |
T |
4: 143,623,706 (GRCm39) |
M156K |
probably benign |
Het |
Prss1 |
A |
G |
6: 41,440,131 (GRCm39) |
D156G |
possibly damaging |
Het |
Rnf133 |
A |
T |
6: 23,649,259 (GRCm39) |
N266K |
probably damaging |
Het |
Setd2 |
G |
T |
9: 110,446,595 (GRCm39) |
A2482S |
possibly damaging |
Het |
Sgo2a |
A |
T |
1: 58,055,726 (GRCm39) |
S637C |
probably damaging |
Het |
Spata6 |
T |
G |
4: 111,625,992 (GRCm39) |
H120Q |
possibly damaging |
Het |
Stk11 |
G |
A |
10: 79,963,775 (GRCm39) |
V194I |
probably damaging |
Het |
Tkt |
T |
C |
14: 30,287,603 (GRCm39) |
V199A |
probably benign |
Het |
Traf3 |
G |
A |
12: 111,209,952 (GRCm39) |
V183M |
possibly damaging |
Het |
Trappc11 |
T |
C |
8: 47,966,437 (GRCm39) |
Y483C |
probably damaging |
Het |
Trappc9 |
T |
C |
15: 72,785,215 (GRCm39) |
|
probably benign |
Het |
Trim59 |
T |
C |
3: 68,945,067 (GRCm39) |
H91R |
probably benign |
Het |
Ttc21a |
A |
G |
9: 119,781,278 (GRCm39) |
S484G |
probably benign |
Het |
Usp13 |
A |
T |
3: 32,969,947 (GRCm39) |
H691L |
probably benign |
Het |
Vmn1r238 |
T |
C |
18: 3,123,243 (GRCm39) |
Y57C |
probably benign |
Het |
Vmn2r111 |
T |
A |
17: 22,790,124 (GRCm39) |
Q294L |
possibly damaging |
Het |
Vmn2r17 |
A |
G |
5: 109,575,774 (GRCm39) |
D215G |
possibly damaging |
Het |
Zfp280b |
A |
G |
10: 75,875,183 (GRCm39) |
D354G |
probably benign |
Het |
Zfp607a |
A |
G |
7: 27,578,523 (GRCm39) |
H531R |
probably damaging |
Het |
Zfp74 |
A |
T |
7: 29,634,158 (GRCm39) |
C517S |
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 |
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 |
|
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'- GCTACCTGCTGATCCAGAAG -3'
(R):5'- TGTCACATACTGGACGTCGTC -3'
Sequencing Primer
(F):5'- GGAGCTCTTCGCCTCTGAG -3'
(R):5'- GGACGTCGTCGCTTTTCACG -3'
|
Posted On |
2016-06-15 |