Incidental Mutation 'IGL01788:Slc2a6'
| ID |
155119 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc2a6
|
| Ensembl Gene |
ENSMUSG00000036067 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 6 |
| Synonyms |
Glut6, F630103L12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL01788
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26911375-26918010 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 26914227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 297
(Q297*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045702]
[ENSMUST00000102890]
[ENSMUST00000114003]
[ENSMUST00000114006]
[ENSMUST00000114007]
[ENSMUST00000153388]
|
| AlphaFold |
Q3UDF0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045702
AA Change: Q297*
|
| SMART Domains |
Protein: ENSMUSP00000049103
Gene: ENSMUSG00000036067
AA Change: Q297*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
37 |
439 |
4.1e-25 |
PFAM |
|
Pfam:Sugar_tr
|
39 |
488 |
8.4e-87 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102890
AA Change: Q297*
|
| SMART Domains |
Protein: ENSMUSP00000099954
Gene: ENSMUSG00000036067
AA Change: Q297*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
37 |
382 |
5.3e-22 |
PFAM |
|
Pfam:Sugar_tr
|
39 |
341 |
3.4e-61 |
PFAM |
|
Pfam:Sugar_tr
|
337 |
434 |
1.8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114003
|
| SMART Domains |
Protein: ENSMUSP00000109636
Gene: ENSMUSG00000015488
| Domain | Start | End | E-Value | Type |
|---|
|
Cg6151-P
|
1 |
80 |
6.19e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114006
|
| SMART Domains |
Protein: ENSMUSP00000109639
Gene: ENSMUSG00000015488
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
Cg6151-P
|
33 |
142 |
2.87e-61 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114007
|
| SMART Domains |
Protein: ENSMUSP00000109640
Gene: ENSMUSG00000015488
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
Cg6151-P
|
33 |
142 |
2.87e-61 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145742
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153388
|
| SMART Domains |
Protein: ENSMUSP00000122054
Gene: ENSMUSG00000036067
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM, Jul 2002]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230009I02Rik |
T |
G |
11: 50,982,542 (GRCm39) |
|
noncoding transcript |
Het |
| Acp6 |
A |
G |
3: 97,073,198 (GRCm39) |
T80A |
probably damaging |
Het |
| Adamtsl5 |
T |
C |
10: 80,180,757 (GRCm39) |
T102A |
probably benign |
Het |
| Adcy6 |
C |
A |
15: 98,494,400 (GRCm39) |
E812* |
probably null |
Het |
| Apol6 |
G |
A |
15: 76,935,216 (GRCm39) |
V162I |
possibly damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,220,206 (GRCm39) |
M396K |
possibly damaging |
Het |
| B3gnt8 |
A |
G |
7: 25,328,613 (GRCm39) |
T348A |
probably damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,562,672 (GRCm39) |
V869A |
probably benign |
Het |
| Dcaf5 |
A |
T |
12: 80,395,098 (GRCm39) |
I357N |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,749,903 (GRCm39) |
I165V |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,893,631 (GRCm39) |
I982K |
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,413,772 (GRCm39) |
H1891L |
probably benign |
Het |
| Fhad1 |
A |
C |
4: 141,660,113 (GRCm39) |
S65R |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,652,996 (GRCm39) |
I1331T |
probably damaging |
Het |
| Fto |
A |
T |
8: 92,136,359 (GRCm39) |
Y211F |
probably benign |
Het |
| Gm3278 |
A |
C |
14: 16,080,370 (GRCm39) |
R60S |
probably benign |
Het |
| Ifna9 |
A |
G |
4: 88,510,097 (GRCm39) |
S176P |
probably damaging |
Het |
| Klk1 |
T |
C |
7: 43,878,407 (GRCm39) |
I189T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,682,419 (GRCm39) |
G519R |
probably damaging |
Het |
| Mcph1 |
G |
A |
8: 18,682,420 (GRCm39) |
G519E |
probably damaging |
Het |
| N4bp1 |
A |
T |
8: 87,587,624 (GRCm39) |
V438E |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,828,423 (GRCm39) |
V58E |
probably damaging |
Het |
| Nid2 |
T |
A |
14: 19,858,047 (GRCm39) |
S1054T |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,153,492 (GRCm39) |
Y681F |
probably benign |
Het |
| Or4f57 |
T |
C |
2: 111,791,352 (GRCm39) |
D22G |
probably benign |
Het |
| Or4k15c |
A |
G |
14: 50,321,959 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or52e19b |
C |
A |
7: 103,032,770 (GRCm39) |
M146I |
probably benign |
Het |
| Or5b94 |
G |
A |
19: 12,652,442 (GRCm39) |
R291K |
probably damaging |
Het |
| Papln |
A |
T |
12: 83,822,236 (GRCm39) |
T364S |
probably benign |
Het |
| Pcdh18 |
C |
A |
3: 49,710,371 (GRCm39) |
E315* |
probably null |
Het |
| Pmel |
G |
A |
10: 128,553,701 (GRCm39) |
R445Q |
probably damaging |
Het |
| Ppp1r12b |
C |
T |
1: 134,821,245 (GRCm39) |
V182I |
possibly damaging |
Het |
| Ptprn2 |
A |
G |
12: 116,864,607 (GRCm39) |
T541A |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,005,576 (GRCm39) |
N813K |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,609,410 (GRCm39) |
R713L |
probably benign |
Het |
| Slc13a1 |
T |
G |
6: 24,134,371 (GRCm39) |
T171P |
probably damaging |
Het |
| Slc18b1 |
G |
T |
10: 23,701,899 (GRCm39) |
E407D |
probably damaging |
Het |
| Vmn1r209 |
T |
C |
13: 22,989,832 (GRCm39) |
H286R |
probably damaging |
Het |
| Vmn1r28 |
C |
A |
6: 58,242,522 (GRCm39) |
H122N |
probably benign |
Het |
| Wfs1 |
A |
G |
5: 37,125,980 (GRCm39) |
Y304H |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,230,556 (GRCm39) |
S445P |
possibly damaging |
Het |
|
| Other mutations in Slc2a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02892:Slc2a6
|
APN |
2 |
26,914,305 (GRCm39) |
missense |
probably benign |
0.08 |
|
English
|
UTSW |
2 |
26,913,143 (GRCm39) |
nonsense |
probably null |
|
|
R6368:Slc2a6
|
UTSW |
2 |
26,914,599 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6501:Slc2a6
|
UTSW |
2 |
26,913,143 (GRCm39) |
nonsense |
probably null |
|
|
R6902:Slc2a6
|
UTSW |
2 |
26,913,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6944:Slc2a6
|
UTSW |
2 |
26,916,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6993:Slc2a6
|
UTSW |
2 |
26,917,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Slc2a6
|
UTSW |
2 |
26,916,047 (GRCm39) |
frame shift |
probably null |
|
|
R7597:Slc2a6
|
UTSW |
2 |
26,917,195 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7629:Slc2a6
|
UTSW |
2 |
26,914,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8195:Slc2a6
|
UTSW |
2 |
26,917,838 (GRCm39) |
missense |
probably benign |
|
|
R8469:Slc2a6
|
UTSW |
2 |
26,914,347 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9139:Slc2a6
|
UTSW |
2 |
26,914,334 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1088:Slc2a6
|
UTSW |
2 |
26,911,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation