Incidental Mutation 'R5203:Slc2a12'
| ID |
398263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc2a12
|
| Ensembl Gene |
ENSMUSG00000037490 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 12 |
| Synonyms |
Glut12, GLUT-12 |
| MMRRC Submission |
042778-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5203 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
22520910-22580184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 22568117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 515
(V515L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042261]
|
| AlphaFold |
Q8BFW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042261
AA Change: V515L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: V515L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
42 |
390 |
5.3e-27 |
PFAM |
|
Pfam:Sugar_tr
|
47 |
381 |
9.1e-76 |
PFAM |
|
Pfam:Sugar_tr
|
451 |
569 |
4e-28 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
G |
16: 4,653,462 (GRCm39) |
S4A |
unknown |
Het |
| Adgrv1 |
A |
T |
13: 81,659,024 (GRCm39) |
N2053K |
possibly damaging |
Het |
| Akr1c13 |
C |
T |
13: 4,247,896 (GRCm39) |
R223* |
probably null |
Het |
| Arhgef11 |
A |
G |
3: 87,642,664 (GRCm39) |
Y1370C |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,409,314 (GRCm39) |
E1731G |
unknown |
Het |
| Cyp2c54 |
A |
T |
19: 40,060,918 (GRCm39) |
V75E |
probably damaging |
Het |
| Fa2h |
A |
G |
8: 112,075,996 (GRCm39) |
M209T |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,224,582 (GRCm39) |
I311T |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 16,289,438 (GRCm39) |
L28F |
possibly damaging |
Het |
| Fntb |
C |
A |
12: 76,884,346 (GRCm39) |
P22Q |
probably benign |
Het |
| Gmeb1 |
T |
C |
4: 131,959,320 (GRCm39) |
|
probably null |
Het |
| Gpr22 |
A |
G |
12: 31,759,787 (GRCm39) |
S112P |
probably damaging |
Het |
| Htr7 |
A |
G |
19: 35,941,792 (GRCm39) |
S464P |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Krt79 |
A |
G |
15: 101,838,175 (GRCm39) |
S527P |
unknown |
Het |
| Lnpep |
A |
T |
17: 17,757,325 (GRCm39) |
D858E |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,427,347 (GRCm39) |
V403F |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,232,646 (GRCm39) |
Q363R |
probably benign |
Het |
| Mtmr10 |
G |
A |
7: 63,967,909 (GRCm39) |
V273I |
probably benign |
Het |
| Mup2 |
T |
A |
4: 60,139,728 (GRCm39) |
E20V |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,410,995 (GRCm39) |
N151S |
probably damaging |
Het |
| Nod2 |
A |
C |
8: 89,391,079 (GRCm39) |
D462A |
probably damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,878,247 (GRCm39) |
Y497H |
probably damaging |
Het |
| Or12d2 |
A |
T |
17: 37,625,092 (GRCm39) |
L61Q |
probably damaging |
Het |
| Or4k44 |
A |
C |
2: 111,367,981 (GRCm39) |
Y218D |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhac1 |
A |
T |
18: 37,224,243 (GRCm39) |
D352V |
probably damaging |
Het |
| Psap |
A |
G |
10: 60,130,755 (GRCm39) |
D195G |
probably damaging |
Het |
| Scyl1 |
G |
A |
19: 5,821,395 (GRCm39) |
|
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,025,720 (GRCm39) |
|
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,209,061 (GRCm39) |
Y131C |
probably damaging |
Het |
| Ttc27 |
A |
G |
17: 75,084,649 (GRCm39) |
D419G |
probably damaging |
Het |
| Ubxn8 |
T |
C |
8: 34,123,639 (GRCm39) |
E100G |
probably damaging |
Het |
| Zpbp |
T |
C |
11: 11,358,451 (GRCm39) |
E272G |
probably damaging |
Het |
|
| Other mutations in Slc2a12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01392:Slc2a12
|
APN |
10 |
22,540,583 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02472:Slc2a12
|
APN |
10 |
22,541,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03387:Slc2a12
|
APN |
10 |
22,541,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03412:Slc2a12
|
APN |
10 |
22,540,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0537:Slc2a12
|
UTSW |
10 |
22,540,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Slc2a12
|
UTSW |
10 |
22,568,129 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0744:Slc2a12
|
UTSW |
10 |
22,577,915 (GRCm39) |
unclassified |
probably benign |
|
|
R0833:Slc2a12
|
UTSW |
10 |
22,577,915 (GRCm39) |
unclassified |
probably benign |
|
|
R1056:Slc2a12
|
UTSW |
10 |
22,541,350 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1926:Slc2a12
|
UTSW |
10 |
22,541,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2188:Slc2a12
|
UTSW |
10 |
22,540,736 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2471:Slc2a12
|
UTSW |
10 |
22,540,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4212:Slc2a12
|
UTSW |
10 |
22,577,993 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4213:Slc2a12
|
UTSW |
10 |
22,577,993 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4543:Slc2a12
|
UTSW |
10 |
22,540,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5203:Slc2a12
|
UTSW |
10 |
22,521,213 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5223:Slc2a12
|
UTSW |
10 |
22,577,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5500:Slc2a12
|
UTSW |
10 |
22,541,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6119:Slc2a12
|
UTSW |
10 |
22,541,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Slc2a12
|
UTSW |
10 |
22,540,401 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6281:Slc2a12
|
UTSW |
10 |
22,541,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6330:Slc2a12
|
UTSW |
10 |
22,540,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6385:Slc2a12
|
UTSW |
10 |
22,569,929 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6623:Slc2a12
|
UTSW |
10 |
22,540,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6895:Slc2a12
|
UTSW |
10 |
22,568,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7080:Slc2a12
|
UTSW |
10 |
22,541,216 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7152:Slc2a12
|
UTSW |
10 |
22,541,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7592:Slc2a12
|
UTSW |
10 |
22,540,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7641:Slc2a12
|
UTSW |
10 |
22,569,893 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7674:Slc2a12
|
UTSW |
10 |
22,569,893 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7736:Slc2a12
|
UTSW |
10 |
22,540,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7822:Slc2a12
|
UTSW |
10 |
22,540,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8519:Slc2a12
|
UTSW |
10 |
22,540,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8754:Slc2a12
|
UTSW |
10 |
22,521,116 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8799:Slc2a12
|
UTSW |
10 |
22,568,105 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9099:Slc2a12
|
UTSW |
10 |
22,569,923 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9224:Slc2a12
|
UTSW |
10 |
22,541,261 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9283:Slc2a12
|
UTSW |
10 |
22,540,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9294:Slc2a12
|
UTSW |
10 |
22,540,994 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9576:Slc2a12
|
UTSW |
10 |
22,578,004 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Z1177:Slc2a12
|
UTSW |
10 |
22,521,140 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAAGCCAGGCAGGACTTG -3'
(R):5'- CCAGATATCCATGCTGAAATTCCATG -3'
Sequencing Primer
(F):5'- CAGGACTTGGAGAGAGACCATG -3'
(R):5'- GCATTAAGATTGAAGGCTGCTTAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation