Incidental Mutation 'IGL01863:Slc2a13'
ID |
178421 |
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 # |
IGL01863
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
91151899-91457464 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91400695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 176
(I176V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109283]
|
AlphaFold |
Q3UHK1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109283
AA Change: I176V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000104906 Gene: ENSMUSG00000036298 AA Change: I176V
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
T |
A |
10: 42,215,907 (GRCm39) |
I326F |
possibly damaging |
Het |
Aimp1 |
T |
C |
3: 132,377,853 (GRCm39) |
T171A |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,892,813 (GRCm39) |
L1564* |
probably null |
Het |
Atp1a1 |
G |
T |
3: 101,499,205 (GRCm39) |
Y131* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,301,338 (GRCm39) |
E2686G |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 72,743,770 (GRCm39) |
V395A |
possibly damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,268,823 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,387,088 (GRCm39) |
Q713R |
probably benign |
Het |
Esf1 |
A |
T |
2: 139,962,599 (GRCm39) |
M824K |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,024,768 (GRCm39) |
|
probably benign |
Het |
Gem |
A |
G |
4: 11,705,980 (GRCm39) |
I23V |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,744 (GRCm39) |
E779G |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,552,993 (GRCm39) |
|
probably benign |
Het |
Lipi |
A |
C |
16: 75,347,114 (GRCm39) |
I435R |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,222,617 (GRCm39) |
T551A |
probably damaging |
Het |
Omg |
C |
T |
11: 79,393,050 (GRCm39) |
M269I |
probably benign |
Het |
Optn |
A |
T |
2: 5,026,298 (GRCm39) |
|
probably benign |
Het |
Or5ae2 |
T |
C |
7: 84,505,619 (GRCm39) |
L14P |
probably damaging |
Het |
Pex1 |
A |
G |
5: 3,656,066 (GRCm39) |
T298A |
probably benign |
Het |
Rab27b |
T |
A |
18: 70,122,625 (GRCm39) |
R111S |
probably damaging |
Het |
Rhbdf1 |
T |
G |
11: 32,163,484 (GRCm39) |
E329D |
probably benign |
Het |
Slc30a1 |
T |
A |
1: 191,641,196 (GRCm39) |
C281S |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,762,430 (GRCm38) |
C509S |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,872,151 (GRCm39) |
R862G |
probably benign |
Het |
Tbc1d2 |
A |
G |
4: 46,607,064 (GRCm39) |
I782T |
possibly damaging |
Het |
Tent5c |
C |
T |
3: 100,379,980 (GRCm39) |
D259N |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps33b |
T |
C |
7: 79,924,059 (GRCm39) |
|
probably null |
Het |
Wrap73 |
A |
G |
4: 154,229,790 (GRCm39) |
I54V |
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 |
|
IGL02149:Slc2a13
|
APN |
15 |
91,227,924 (GRCm39) |
missense |
probably benign |
|
IGL02670:Slc2a13
|
APN |
15 |
91,381,712 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2014-05-07 |