Incidental Mutation 'R6717:Slc2a8'
| ID |
529414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc2a8
|
| Ensembl Gene |
ENSMUSG00000026791 |
| Gene Name |
solute carrier family 2, (facilitated glucose transporter), member 8 |
| Synonyms |
GLUT8, GlutX1, D2Ertd44e |
| MMRRC Submission |
044835-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R6717 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32863002-32872095 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 32866189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 277
(M277R)
|
| 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: M277R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028129
Gene: ENSMUSG00000026791
AA Change: M277R
| 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 damaging
Transcript: ENSMUST00000153484
AA Change: M277R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141959
Gene: ENSMUSG00000026791
AA Change: M277R
| 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 damaging
Transcript: ENSMUST00000193695
AA Change: M277R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142100
Gene: ENSMUSG00000026791
AA Change: M277R
| 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 damaging
Transcript: ENSMUST00000195863
AA Change: M13R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141879
Gene: ENSMUSG00000026791
AA Change: M13R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
1 |
60 |
8.7e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
98% (47/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
C |
T |
5: 4,114,086 (GRCm39) |
L3122F |
probably damaging |
Het |
| Atp6v1b1 |
A |
T |
6: 83,730,632 (GRCm39) |
|
probably null |
Het |
| Ccdc178 |
A |
T |
18: 22,153,946 (GRCm39) |
V621E |
probably damaging |
Het |
| Cfap126 |
T |
C |
1: 170,941,671 (GRCm39) |
|
probably null |
Het |
| Cog2 |
T |
C |
8: 125,252,488 (GRCm39) |
I64T |
probably damaging |
Het |
| Dhx9 |
A |
C |
1: 153,349,210 (GRCm39) |
|
probably null |
Het |
| Efcab7 |
A |
G |
4: 99,761,931 (GRCm39) |
D407G |
possibly damaging |
Het |
| Eif2b5 |
G |
T |
16: 20,324,033 (GRCm39) |
G459C |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,793,765 (GRCm39) |
E1168G |
probably damaging |
Het |
| Flnc |
AGCTGTCAAGTATGCTG |
AGCTG |
6: 29,450,901 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
G |
5: 150,419,777 (GRCm39) |
T980A |
probably benign |
Het |
| Gabbr2 |
A |
G |
4: 46,787,574 (GRCm39) |
V363A |
possibly damaging |
Het |
| Ggt6 |
T |
A |
11: 72,328,346 (GRCm39) |
L244* |
probably null |
Het |
| Gprc6a |
T |
A |
10: 51,491,233 (GRCm39) |
I768F |
probably damaging |
Het |
| Grk1 |
G |
A |
8: 13,466,237 (GRCm39) |
M560I |
probably benign |
Het |
| Hapln4 |
G |
A |
8: 70,537,740 (GRCm39) |
E145K |
probably damaging |
Het |
| Hoxd9 |
C |
T |
2: 74,528,733 (GRCm39) |
P112S |
probably benign |
Het |
| Ly6g6f |
T |
A |
17: 35,304,550 (GRCm39) |
M1L |
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,644,383 (GRCm39) |
T849A |
probably benign |
Het |
| Mob4 |
A |
T |
1: 55,175,872 (GRCm39) |
M39L |
possibly damaging |
Het |
| Mrgpre |
A |
T |
7: 143,335,260 (GRCm39) |
L81Q |
probably damaging |
Het |
| Mst1 |
T |
C |
9: 107,957,774 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
T |
7: 141,411,559 (GRCm39) |
R1502* |
probably null |
Het |
| Or4b13 |
T |
A |
2: 90,082,868 (GRCm39) |
I155L |
probably benign |
Het |
| Or5ap2 |
T |
A |
2: 85,680,567 (GRCm39) |
I257N |
probably damaging |
Het |
| Or9e1 |
T |
C |
11: 58,732,113 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pdc |
A |
G |
1: 150,208,769 (GRCm39) |
D84G |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,114,523 (GRCm39) |
N443D |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,341,401 (GRCm39) |
W85R |
unknown |
Het |
| Pramel31 |
G |
T |
4: 144,089,227 (GRCm39) |
V182L |
probably benign |
Het |
| Rfc1 |
G |
A |
5: 65,459,347 (GRCm39) |
Q190* |
probably null |
Het |
| Rfc1 |
A |
G |
5: 65,470,304 (GRCm39) |
S68P |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,452,317 (GRCm39) |
V432A |
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,273,018 (GRCm39) |
S204P |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,162,631 (GRCm39) |
E205G |
probably damaging |
Het |
| Slc4a1 |
T |
C |
11: 102,245,249 (GRCm39) |
Y566C |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,331,262 (GRCm39) |
N185S |
probably benign |
Het |
| Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,157,482 (GRCm39) |
|
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,926,823 (GRCm39) |
T279S |
possibly damaging |
Het |
| Taok3 |
A |
G |
5: 117,379,015 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,599,561 (GRCm39) |
T516A |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,641,093 (GRCm39) |
L1088Q |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,485 (GRCm39) |
M879L |
probably benign |
Het |
| Tnk2 |
A |
G |
16: 32,489,687 (GRCm39) |
E322G |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,433,302 (GRCm39) |
V2081A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,624,753 (GRCm39) |
|
probably null |
Het |
| Zfp105 |
T |
C |
9: 122,759,373 (GRCm39) |
V348A |
possibly damaging |
Het |
| Zswim2 |
T |
C |
2: 83,745,753 (GRCm39) |
R562G |
probably benign |
Het |
|
| Other mutations in Slc2a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Slc2a8
|
APN |
2 |
32,863,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTATGCCCACAGTGACCGAG -3'
(R):5'- GCAGAATCCTTTACCCAGATGCTG -3'
Sequencing Primer
(F):5'- ACAGTGACCGAGGCCAG -3'
(R):5'- GGCCTATCTGCACACTCAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation