Incidental Mutation 'R7507:Slc2a5'
ID |
581837 |
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 |
045580-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R7507 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
150203801-150228625 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 150210107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 31
(Y31H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030826
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030826]
|
AlphaFold |
Q9WV38 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030826
AA Change: Y31H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030826 Gene: ENSMUSG00000028976 AA Change: Y31H
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
16 |
397 |
1e-19 |
PFAM |
Pfam:Sugar_tr
|
19 |
474 |
2.1e-138 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (43/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,652,177 (GRCm39) |
T1359S |
probably benign |
Het |
Adam8 |
C |
T |
7: 139,567,091 (GRCm39) |
|
probably null |
Het |
Adnp2 |
A |
G |
18: 80,174,068 (GRCm39) |
S114P |
probably benign |
Het |
BC051019 |
T |
A |
7: 109,315,475 (GRCm39) |
D260V |
possibly damaging |
Het |
Btnl10 |
A |
G |
11: 58,811,384 (GRCm39) |
T236A |
probably benign |
Het |
Cacna1c |
A |
T |
6: 119,034,200 (GRCm39) |
L109Q |
|
Het |
Clint1 |
C |
A |
11: 45,799,776 (GRCm39) |
Q512K |
possibly damaging |
Het |
Dop1a |
A |
G |
9: 86,418,002 (GRCm39) |
N1957S |
probably benign |
Het |
Gosr1 |
A |
T |
11: 76,645,240 (GRCm39) |
N101K |
probably benign |
Het |
Gria1 |
A |
G |
11: 57,119,765 (GRCm39) |
T350A |
probably benign |
Het |
Hs3st5 |
T |
A |
10: 36,709,011 (GRCm39) |
V182D |
probably damaging |
Het |
Igkv4-80 |
G |
T |
6: 68,993,677 (GRCm39) |
S71R |
probably benign |
Het |
Kif2b |
A |
G |
11: 91,468,269 (GRCm39) |
F5L |
probably benign |
Het |
Med1 |
A |
G |
11: 98,048,852 (GRCm39) |
L648P |
probably damaging |
Het |
Mgat4a |
G |
A |
1: 37,491,608 (GRCm39) |
L375F |
probably damaging |
Het |
Mlph |
A |
T |
1: 90,855,429 (GRCm39) |
|
probably benign |
Het |
Nbeal1 |
T |
C |
1: 60,274,626 (GRCm39) |
S346P |
probably damaging |
Het |
Nhlrc2 |
G |
A |
19: 56,585,810 (GRCm39) |
V682I |
not run |
Het |
Nos3 |
T |
C |
5: 24,577,642 (GRCm39) |
M552T |
probably damaging |
Het |
Or4e2 |
A |
G |
14: 52,687,930 (GRCm39) |
N20S |
probably benign |
Het |
Or5w19 |
T |
C |
2: 87,698,713 (GRCm39) |
I126T |
probably damaging |
Het |
Or6c209 |
T |
A |
10: 129,483,366 (GRCm39) |
I123N |
probably damaging |
Het |
Pcdha5 |
A |
T |
18: 37,093,909 (GRCm39) |
R139S |
probably benign |
Het |
Pik3r1 |
G |
A |
13: 101,845,490 (GRCm39) |
S147L |
probably benign |
Het |
Plppr4 |
T |
A |
3: 117,115,754 (GRCm39) |
H701L |
possibly damaging |
Het |
Pnpla1 |
T |
C |
17: 29,095,791 (GRCm39) |
Y71H |
probably damaging |
Het |
Ppp1r12c |
G |
A |
7: 4,486,970 (GRCm39) |
A521V |
probably benign |
Het |
Rasgrp3 |
C |
A |
17: 75,804,055 (GRCm39) |
D119E |
probably damaging |
Het |
Rnf216 |
A |
T |
5: 143,075,557 (GRCm39) |
D342E |
probably damaging |
Het |
Rnpc3 |
A |
T |
3: 113,410,410 (GRCm39) |
S294T |
probably benign |
Het |
Sepsecs |
A |
G |
5: 52,801,397 (GRCm39) |
F422L |
probably damaging |
Het |
Sgcz |
T |
A |
8: 38,420,200 (GRCm39) |
E17D |
probably benign |
Het |
Spag9 |
A |
G |
11: 93,958,906 (GRCm39) |
E310G |
probably benign |
Het |
Stat4 |
A |
G |
1: 52,117,733 (GRCm39) |
Y288C |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,668,671 (GRCm39) |
|
probably null |
Het |
Trim62 |
A |
G |
4: 128,790,664 (GRCm39) |
T154A |
probably benign |
Het |
Tubb4a |
T |
C |
17: 57,388,642 (GRCm39) |
D128G |
probably damaging |
Het |
Ube3d |
G |
A |
9: 86,304,939 (GRCm39) |
A301V |
possibly damaging |
Het |
Utp6 |
A |
G |
11: 79,833,012 (GRCm39) |
S444P |
possibly damaging |
Het |
Vasn |
T |
C |
16: 4,467,345 (GRCm39) |
C431R |
probably damaging |
Het |
Zfp260 |
T |
C |
7: 29,804,291 (GRCm39) |
S64P |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,808,840 (GRCm39) |
M1007K |
probably damaging |
Het |
Zfp606 |
C |
A |
7: 12,226,868 (GRCm39) |
Q330K |
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 |
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 |
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'- TGAGAGCCTGTTGTCACCTC -3'
(R):5'- GCACGTCCATGAGAAGCTGAAG -3'
Sequencing Primer
(F):5'- AGAGCCTGTTGTCACCTCAATGG -3'
(R):5'- AGGACTTGGTCATTCACATGGC -3'
|
Posted On |
2019-10-17 |