Incidental Mutation 'IGL02670:Slc2a13'
| ID |
302889 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc2a13
|
| Ensembl Gene |
ENSMUSG00000036298 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 13 |
| Synonyms |
A630029G22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
91151899-91457464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91381712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 259
(G259E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109283]
|
| AlphaFold |
Q3UHK1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109283
AA Change: G259E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104906
Gene: ENSMUSG00000036298
AA Change: G259E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
73 |
412 |
2e-87 |
PFAM |
|
Pfam:MFS_1
|
77 |
411 |
6.6e-23 |
PFAM |
|
Pfam:Sugar_tr
|
487 |
598 |
8.1e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb1 |
T |
C |
1: 91,474,640 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,021,454 (GRCm39) |
Q2193* |
probably null |
Het |
| Cnot6 |
G |
A |
11: 49,575,941 (GRCm39) |
Q178* |
probably null |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Cyp27b1 |
T |
C |
10: 126,886,227 (GRCm39) |
S303P |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,409,442 (GRCm39) |
L3620P |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,854,523 (GRCm39) |
|
probably null |
Het |
| Fam161b |
T |
C |
12: 84,404,368 (GRCm39) |
D104G |
probably benign |
Het |
| Fam8a1 |
A |
G |
13: 46,827,080 (GRCm39) |
M284V |
possibly damaging |
Het |
| Fkbp3 |
T |
A |
12: 65,115,877 (GRCm39) |
K65* |
probably null |
Het |
| Gatb |
A |
G |
3: 85,520,858 (GRCm39) |
|
probably null |
Het |
| Gm572 |
A |
T |
4: 148,735,685 (GRCm39) |
H38L |
probably benign |
Het |
| Gm6576 |
A |
C |
15: 27,025,598 (GRCm39) |
|
noncoding transcript |
Het |
| L2hgdh |
G |
A |
12: 69,739,254 (GRCm39) |
R406W |
possibly damaging |
Het |
| Lmo7 |
A |
T |
14: 102,118,416 (GRCm39) |
T214S |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,411,981 (GRCm39) |
H361R |
probably benign |
Het |
| Mios |
T |
C |
6: 8,235,378 (GRCm39) |
|
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,093,741 (GRCm39) |
L315P |
probably damaging |
Het |
| Pask |
A |
C |
1: 93,238,540 (GRCm39) |
V1315G |
probably damaging |
Het |
| Pias4 |
A |
T |
10: 80,999,904 (GRCm39) |
C50S |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sgk1 |
T |
A |
10: 21,804,445 (GRCm39) |
C92S |
probably benign |
Het |
| Slc5a4b |
A |
G |
10: 75,910,934 (GRCm39) |
C301R |
probably damaging |
Het |
| Sstr4 |
G |
T |
2: 148,238,453 (GRCm39) |
G355* |
probably null |
Het |
| Tnrc6a |
T |
A |
7: 122,770,535 (GRCm39) |
L775Q |
possibly damaging |
Het |
| Vmn1r218 |
A |
G |
13: 23,321,174 (GRCm39) |
I94V |
probably benign |
Het |
| Xpa |
A |
G |
4: 46,185,682 (GRCm39) |
F99L |
probably benign |
Het |
|
| Other mutations in Slc2a13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:Slc2a13
|
APN |
15 |
91,381,602 (GRCm39) |
missense |
probably benign |
|
|
IGL01295:Slc2a13
|
APN |
15 |
91,234,335 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01863:Slc2a13
|
APN |
15 |
91,400,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02149:Slc2a13
|
APN |
15 |
91,227,924 (GRCm39) |
missense |
probably benign |
|
|
IGL02692:Slc2a13
|
APN |
15 |
91,205,861 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03307:Slc2a13
|
APN |
15 |
91,160,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0394:Slc2a13
|
UTSW |
15 |
91,400,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0624:Slc2a13
|
UTSW |
15 |
91,234,215 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0698:Slc2a13
|
UTSW |
15 |
91,205,870 (GRCm39) |
missense |
probably benign |
|
|
R0702:Slc2a13
|
UTSW |
15 |
91,205,870 (GRCm39) |
missense |
probably benign |
|
|
R1052:Slc2a13
|
UTSW |
15 |
91,296,363 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2090:Slc2a13
|
UTSW |
15 |
91,400,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2118:Slc2a13
|
UTSW |
15 |
91,400,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4445:Slc2a13
|
UTSW |
15 |
91,234,223 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4896:Slc2a13
|
UTSW |
15 |
91,296,415 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6028:Slc2a13
|
UTSW |
15 |
91,160,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6414:Slc2a13
|
UTSW |
15 |
91,228,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6836:Slc2a13
|
UTSW |
15 |
91,205,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6928:Slc2a13
|
UTSW |
15 |
91,160,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7353:Slc2a13
|
UTSW |
15 |
91,205,807 (GRCm39) |
missense |
probably benign |
|
|
R7423:Slc2a13
|
UTSW |
15 |
91,456,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7458:Slc2a13
|
UTSW |
15 |
91,296,390 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7641:Slc2a13
|
UTSW |
15 |
91,156,359 (GRCm39) |
makesense |
probably null |
|
|
R7993:Slc2a13
|
UTSW |
15 |
91,296,356 (GRCm39) |
nonsense |
probably null |
|
|
R8057:Slc2a13
|
UTSW |
15 |
91,400,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8164:Slc2a13
|
UTSW |
15 |
91,160,281 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8520:Slc2a13
|
UTSW |
15 |
91,457,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Slc2a13
|
UTSW |
15 |
91,234,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9061:Slc2a13
|
UTSW |
15 |
91,234,333 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9185:Slc2a13
|
UTSW |
15 |
91,227,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9396:Slc2a13
|
UTSW |
15 |
91,227,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation