Incidental Mutation 'R5066:Slc2a7'
| ID |
388319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc2a7
|
| Ensembl Gene |
ENSMUSG00000062064 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 7 |
| Synonyms |
OTTMUSG00000010396 |
| MMRRC Submission |
042656-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R5066 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150233429-150252939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 150244573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 347
(M347K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059893]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059893
AA Change: M347K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000059106
Gene: ENSMUSG00000062064
AA Change: M347K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
319 |
2e-15 |
PFAM |
|
Pfam:Sugar_tr
|
26 |
494 |
7.6e-120 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133379
|
| Meta Mutation Damage Score |
0.4863 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
A |
T |
11: 70,507,417 (GRCm39) |
Y154F |
probably benign |
Het |
| Abca5 |
A |
T |
11: 110,200,176 (GRCm39) |
|
probably benign |
Het |
| Agtpbp1 |
T |
A |
13: 59,622,364 (GRCm39) |
D11V |
probably damaging |
Het |
| Aldh1a2 |
G |
A |
9: 71,188,982 (GRCm39) |
A299T |
possibly damaging |
Het |
| Apc |
T |
A |
18: 34,449,158 (GRCm39) |
V1984D |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Atp13a2 |
G |
A |
4: 140,732,449 (GRCm39) |
V905M |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,489,420 (GRCm39) |
G731R |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,836,113 (GRCm39) |
V1131A |
possibly damaging |
Het |
| Bcl2l13 |
T |
A |
6: 120,863,982 (GRCm39) |
V312E |
possibly damaging |
Het |
| Chic2 |
A |
G |
5: 75,187,817 (GRCm39) |
V81A |
possibly damaging |
Het |
| Drg1 |
A |
T |
11: 3,209,353 (GRCm39) |
I122N |
possibly damaging |
Het |
| Efcab3 |
A |
G |
11: 104,611,490 (GRCm39) |
D444G |
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,524,990 (GRCm39) |
N612S |
possibly damaging |
Het |
| Hadhb |
T |
C |
5: 30,369,094 (GRCm39) |
|
probably benign |
Het |
| Heg1 |
G |
T |
16: 33,559,041 (GRCm39) |
R856S |
probably benign |
Het |
| Ice2 |
A |
C |
9: 69,315,573 (GRCm39) |
N143T |
probably benign |
Het |
| Igkv8-21 |
G |
A |
6: 70,292,427 (GRCm39) |
Q4* |
probably null |
Het |
| Lrfn2 |
T |
C |
17: 49,403,448 (GRCm39) |
S524P |
probably damaging |
Het |
| Mndal |
C |
A |
1: 173,703,229 (GRCm39) |
A59S |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,513,002 (GRCm39) |
E33G |
possibly damaging |
Het |
| Msantd5l |
A |
G |
11: 51,145,251 (GRCm39) |
F112S |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,617,801 (GRCm39) |
D187E |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,991,868 (GRCm39) |
I519V |
probably benign |
Het |
| Or10p22 |
G |
A |
10: 128,826,660 (GRCm39) |
R293Q |
probably damaging |
Het |
| Or6c204 |
T |
C |
10: 129,022,433 (GRCm39) |
I286V |
possibly damaging |
Het |
| Padi1 |
T |
C |
4: 140,556,748 (GRCm39) |
N153S |
probably damaging |
Het |
| Parp10 |
A |
G |
15: 76,125,146 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,900,514 (GRCm39) |
M1051K |
probably damaging |
Het |
| Slc45a2 |
C |
A |
15: 11,012,693 (GRCm39) |
T232K |
probably benign |
Het |
| Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,987,538 (GRCm39) |
Y899H |
possibly damaging |
Het |
| Sult1c2 |
T |
A |
17: 54,281,026 (GRCm39) |
I26F |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,541,040 (GRCm39) |
C341R |
probably damaging |
Het |
| Syk |
T |
A |
13: 52,796,018 (GRCm39) |
S538T |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,013,325 (GRCm39) |
T2840A |
probably benign |
Het |
| Thsd4 |
A |
G |
9: 59,883,615 (GRCm39) |
C924R |
probably damaging |
Het |
| Tle1 |
A |
G |
4: 72,076,504 (GRCm39) |
S175P |
probably benign |
Het |
| Tmbim4 |
C |
T |
10: 120,053,537 (GRCm39) |
T112M |
probably benign |
Het |
| Tmprss11a |
A |
G |
5: 86,567,859 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
A |
4: 63,893,466 (GRCm39) |
D1698Y |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,927,539 (GRCm39) |
Y18H |
probably benign |
Het |
|
| Other mutations in Slc2a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01302:Slc2a7
|
APN |
4 |
150,242,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01990:Slc2a7
|
APN |
4 |
150,239,141 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02480:Slc2a7
|
APN |
4 |
150,244,569 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02607:Slc2a7
|
APN |
4 |
150,239,162 (GRCm39) |
missense |
probably benign |
|
|
IGL02716:Slc2a7
|
APN |
4 |
150,244,467 (GRCm39) |
splice site |
probably benign |
|
|
IGL02861:Slc2a7
|
APN |
4 |
150,252,836 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03343:Slc2a7
|
APN |
4 |
150,252,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
anhedonic
|
UTSW |
4 |
150,243,015 (GRCm39) |
nonsense |
probably null |
|
|
Anorectic
|
UTSW |
4 |
150,242,667 (GRCm39) |
splice site |
probably null |
|
|
paunch
|
UTSW |
4 |
150,242,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tablemuscle
|
UTSW |
4 |
150,252,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0116:Slc2a7
|
UTSW |
4 |
150,252,721 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0302:Slc2a7
|
UTSW |
4 |
150,233,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0309:Slc2a7
|
UTSW |
4 |
150,242,528 (GRCm39) |
splice site |
probably benign |
|
|
R0367:Slc2a7
|
UTSW |
4 |
150,250,823 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1485:Slc2a7
|
UTSW |
4 |
150,250,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1542:Slc2a7
|
UTSW |
4 |
150,252,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Slc2a7
|
UTSW |
4 |
150,239,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Slc2a7
|
UTSW |
4 |
150,242,667 (GRCm39) |
splice site |
probably null |
|
|
R4399:Slc2a7
|
UTSW |
4 |
150,243,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4467:Slc2a7
|
UTSW |
4 |
150,247,731 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4712:Slc2a7
|
UTSW |
4 |
150,252,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5510:Slc2a7
|
UTSW |
4 |
150,244,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5995:Slc2a7
|
UTSW |
4 |
150,252,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Slc2a7
|
UTSW |
4 |
150,249,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6062:Slc2a7
|
UTSW |
4 |
150,252,884 (GRCm39) |
missense |
probably benign |
|
|
R6185:Slc2a7
|
UTSW |
4 |
150,233,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6730:Slc2a7
|
UTSW |
4 |
150,242,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Slc2a7
|
UTSW |
4 |
150,239,141 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8145:Slc2a7
|
UTSW |
4 |
150,252,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8203:Slc2a7
|
UTSW |
4 |
150,243,015 (GRCm39) |
nonsense |
probably null |
|
|
R8512:Slc2a7
|
UTSW |
4 |
150,247,752 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9066:Slc2a7
|
UTSW |
4 |
150,250,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9074:Slc2a7
|
UTSW |
4 |
150,242,625 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9129:Slc2a7
|
UTSW |
4 |
150,243,001 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9773:Slc2a7
|
UTSW |
4 |
150,234,044 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCCACTGCTCACATTGA -3'
(R):5'- GCGCTTGCTTGTTCTTGAC -3'
Sequencing Primer
(F):5'- TCACATTGAGAAAGGGAATCCAGTG -3'
(R):5'- ACCCAGGAACTTGTGTATGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation