Incidental Mutation 'IGL00420:Slc2a8'
| ID |
7231 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc2a8
|
| Ensembl Gene |
ENSMUSG00000026791 |
| Gene Name |
solute carrier family 2, (facilitated glucose transporter), member 8 |
| Synonyms |
GLUT8, GlutX1, D2Ertd44e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
IGL00420
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32863002-32872095 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 32863636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 469
(Q469K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028129]
[ENSMUST00000153484]
[ENSMUST00000193695]
[ENSMUST00000194066]
[ENSMUST00000195863]
|
| AlphaFold |
Q9JIF3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028129
AA Change: Q469K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028129
Gene: ENSMUSG00000026791
AA Change: Q469K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
26 |
425 |
2e-22 |
PFAM |
|
Pfam:Sugar_tr
|
29 |
474 |
2.7e-98 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130769
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153484
|
| SMART Domains |
Protein: ENSMUSP00000141959
Gene: ENSMUSG00000026791
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
26 |
296 |
1.4e-18 |
PFAM |
|
Pfam:Sugar_tr
|
29 |
295 |
1.5e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191777
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193695
|
| SMART Domains |
Protein: ENSMUSP00000142100
Gene: ENSMUSG00000026791
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
26 |
290 |
1.2e-18 |
PFAM |
|
Pfam:Sugar_tr
|
29 |
290 |
1.4e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194066
|
| SMART Domains |
Protein: ENSMUSP00000141969
Gene: ENSMUSG00000026791
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195863
|
| SMART Domains |
Protein: ENSMUSP00000141879
Gene: ENSMUSG00000026791
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
1 |
60 |
8.7e-17 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygotes for one null allele show reduced spermatozoan ATP levels, mitochondrial membrane potential and sperm motility, and a slight deviation from the expected Mendelian frequency. Homozygotes for another null allele show increased hippocampus cell proliferation and cardiac P-wave duration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
A |
T |
13: 41,931,078 (GRCm39) |
S170T |
probably benign |
Het |
| Cep55 |
C |
A |
19: 38,061,887 (GRCm39) |
Q443K |
probably damaging |
Het |
| Ces1c |
T |
C |
8: 93,833,301 (GRCm39) |
E388G |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,752,020 (GRCm39) |
S1753P |
possibly damaging |
Het |
| Cse1l |
T |
A |
2: 166,769,724 (GRCm39) |
I343N |
probably damaging |
Het |
| Ctif |
T |
G |
18: 75,570,247 (GRCm39) |
M551L |
possibly damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,310,143 (GRCm39) |
|
probably benign |
Het |
| Filip1 |
G |
A |
9: 79,725,226 (GRCm39) |
T1131I |
probably damaging |
Het |
| Gm13941 |
G |
A |
2: 110,922,193 (GRCm39) |
|
probably benign |
Het |
| Klc3 |
T |
C |
7: 19,130,220 (GRCm39) |
E319G |
possibly damaging |
Het |
| Lonrf1 |
T |
C |
8: 36,697,231 (GRCm39) |
|
probably benign |
Het |
| Lrba |
A |
G |
3: 86,267,089 (GRCm39) |
E1593G |
probably benign |
Het |
| Mroh5 |
G |
A |
15: 73,664,638 (GRCm39) |
|
probably benign |
Het |
| Mthfr |
T |
A |
4: 148,125,727 (GRCm39) |
M20K |
probably benign |
Het |
| Nsd2 |
C |
A |
5: 34,040,347 (GRCm39) |
N960K |
possibly damaging |
Het |
| Osgin1 |
T |
A |
8: 120,171,785 (GRCm39) |
V193E |
probably damaging |
Het |
| Pced1a |
A |
T |
2: 130,261,098 (GRCm39) |
C420S |
probably benign |
Het |
| Pkd2l1 |
C |
T |
19: 44,146,075 (GRCm39) |
|
probably null |
Het |
| Plekhg5 |
C |
A |
4: 152,186,498 (GRCm39) |
|
probably null |
Het |
| Prkg2 |
A |
G |
5: 99,172,400 (GRCm39) |
V105A |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,599 (GRCm39) |
I518T |
probably benign |
Het |
| Rapgef5 |
T |
A |
12: 117,677,917 (GRCm39) |
V150D |
probably damaging |
Het |
| Sema4c |
A |
G |
1: 36,593,001 (GRCm39) |
|
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,422,837 (GRCm39) |
E354G |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,722,114 (GRCm39) |
L257I |
probably benign |
Het |
| Slc44a1 |
T |
C |
4: 53,553,550 (GRCm39) |
V519A |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,359,955 (GRCm39) |
|
probably null |
Het |
| Strap |
T |
C |
6: 137,722,521 (GRCm39) |
S219P |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,950,967 (GRCm39) |
I1636V |
probably benign |
Het |
| Tle1 |
G |
A |
4: 72,087,355 (GRCm39) |
R126C |
possibly damaging |
Het |
| Traf3 |
T |
A |
12: 111,205,501 (GRCm39) |
I94N |
probably damaging |
Het |
| Trps1 |
G |
T |
15: 50,710,266 (GRCm39) |
T28K |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,643,985 (GRCm39) |
T1160S |
probably damaging |
Het |
| Vapb |
G |
A |
2: 173,619,964 (GRCm39) |
V228M |
probably benign |
Het |
| Wdr3 |
A |
T |
3: 100,055,424 (GRCm39) |
D506E |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,792 (GRCm39) |
C350* |
probably null |
Het |
| Zfp51 |
A |
T |
17: 21,683,714 (GRCm39) |
M110L |
probably benign |
Het |
| Zfp687 |
G |
A |
3: 94,919,727 (GRCm39) |
A15V |
probably damaging |
Het |
| Zkscan6 |
A |
G |
11: 65,719,287 (GRCm39) |
T436A |
possibly damaging |
Het |
|
| Other mutations in Slc2a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01341:Slc2a8
|
APN |
2 |
32,866,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Slc2a8
|
UTSW |
2 |
32,870,011 (GRCm39) |
splice site |
probably null |
|
|
R0063:Slc2a8
|
UTSW |
2 |
32,870,011 (GRCm39) |
splice site |
probably null |
|
|
R0243:Slc2a8
|
UTSW |
2 |
32,870,116 (GRCm39) |
intron |
probably benign |
|
|
R0530:Slc2a8
|
UTSW |
2 |
32,863,696 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0972:Slc2a8
|
UTSW |
2 |
32,865,379 (GRCm39) |
missense |
probably benign |
|
|
R1919:Slc2a8
|
UTSW |
2 |
32,870,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Slc2a8
|
UTSW |
2 |
32,871,392 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2893:Slc2a8
|
UTSW |
2 |
32,864,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5144:Slc2a8
|
UTSW |
2 |
32,871,785 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5685:Slc2a8
|
UTSW |
2 |
32,871,801 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5744:Slc2a8
|
UTSW |
2 |
32,866,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6717:Slc2a8
|
UTSW |
2 |
32,866,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7828:Slc2a8
|
UTSW |
2 |
32,870,080 (GRCm39) |
nonsense |
probably null |
|
|
R7834:Slc2a8
|
UTSW |
2 |
32,866,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Slc2a8
|
UTSW |
2 |
32,866,010 (GRCm39) |
missense |
probably benign |
|
|
R9091:Slc2a8
|
UTSW |
2 |
32,864,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9270:Slc2a8
|
UTSW |
2 |
32,864,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0061:Slc2a8
|
UTSW |
2 |
32,865,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation