Incidental Mutation 'R6330:Slc2a12'
| ID |
510863 |
| 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 |
044484-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6330 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
22520910-22580184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22540894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 250
(T250A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042261]
|
| AlphaFold |
Q8BFW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042261
AA Change: T250A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: T250A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159174
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
T |
A |
16: 88,423,939 (GRCm39) |
H184L |
probably benign |
Het |
| Ccar1 |
A |
G |
10: 62,600,312 (GRCm39) |
Y540H |
probably damaging |
Het |
| Celf2 |
A |
G |
2: 6,889,766 (GRCm39) |
F2L |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,426,593 (GRCm39) |
I1119V |
probably benign |
Het |
| Clec4f |
T |
C |
6: 83,629,850 (GRCm39) |
Q236R |
probably damaging |
Het |
| Cstdc2 |
G |
T |
2: 148,692,745 (GRCm39) |
A19D |
probably damaging |
Het |
| Cyp4a31 |
C |
T |
4: 115,421,074 (GRCm39) |
P54L |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,909,140 (GRCm39) |
V1251A |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,379,335 (GRCm39) |
V3690M |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,842,655 (GRCm39) |
M1K |
probably null |
Het |
| Emb |
T |
G |
13: 117,385,666 (GRCm39) |
|
probably null |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| F7 |
C |
T |
8: 13,085,140 (GRCm39) |
H389Y |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,564,266 (GRCm39) |
I49K |
probably damaging |
Het |
| Fam50b |
T |
G |
13: 34,930,652 (GRCm39) |
S43A |
probably benign |
Het |
| Gbp7 |
A |
T |
3: 142,252,259 (GRCm39) |
Y614F |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,899,317 (GRCm39) |
D901E |
probably damaging |
Het |
| Hhatl |
C |
T |
9: 121,617,291 (GRCm39) |
|
probably null |
Het |
| Idua |
T |
A |
5: 108,829,574 (GRCm39) |
L432H |
probably benign |
Het |
| Ighv10-3 |
T |
A |
12: 114,487,086 (GRCm39) |
T112S |
possibly damaging |
Het |
| Kcnj6 |
T |
A |
16: 94,563,460 (GRCm39) |
D346V |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,255,664 (GRCm39) |
D1002G |
probably benign |
Het |
| Lrrd1 |
T |
A |
5: 3,900,629 (GRCm39) |
S311R |
probably damaging |
Het |
| Mafk |
A |
G |
5: 139,784,948 (GRCm39) |
N4S |
probably benign |
Het |
| Mfsd14b |
T |
C |
13: 65,243,500 (GRCm39) |
Y48C |
probably damaging |
Het |
| Mindy3 |
C |
T |
2: 12,361,744 (GRCm39) |
A333T |
probably damaging |
Het |
| Mlxip |
G |
A |
5: 123,533,015 (GRCm39) |
C8Y |
probably benign |
Het |
| Mthfd1l |
A |
T |
10: 3,930,234 (GRCm39) |
M110L |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,685 (GRCm39) |
V76A |
possibly damaging |
Het |
| Or1af1 |
A |
T |
2: 37,110,136 (GRCm39) |
I212F |
probably benign |
Het |
| Orc2 |
C |
A |
1: 58,539,493 (GRCm39) |
V49L |
probably benign |
Het |
| Pfkp |
C |
T |
13: 6,635,286 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,373,541 (GRCm39) |
F1359S |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,064,455 (GRCm39) |
I222N |
probably damaging |
Het |
| Rrad |
T |
G |
8: 105,356,492 (GRCm39) |
E136A |
probably benign |
Het |
| Serpine3 |
T |
C |
14: 62,902,430 (GRCm39) |
S14P |
probably benign |
Het |
| Slc4a5 |
T |
G |
6: 83,203,356 (GRCm39) |
F85L |
probably benign |
Het |
| Stx18 |
T |
A |
5: 38,284,261 (GRCm39) |
|
probably null |
Het |
| Tbcd |
T |
C |
11: 121,387,912 (GRCm39) |
S348P |
probably benign |
Het |
| Usp9y |
T |
C |
Y: 1,340,123 (GRCm39) |
T1419A |
probably benign |
Homo |
| Vmn2r69 |
T |
C |
7: 85,060,835 (GRCm39) |
S250G |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,396 (GRCm39) |
V740A |
probably benign |
Het |
| Vwa5b2 |
T |
A |
16: 20,420,727 (GRCm39) |
I846N |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,637,412 (GRCm39) |
Y33N |
probably damaging |
Het |
| Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly 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 |
22,568,117 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- AATGAGCTGATGATTGTCACTGG -3'
(R):5'- CTCTGGAAGCCAACAGACTTC -3'
Sequencing Primer
(F):5'- CAAATTATGCATTTGCCAACATCTCC -3'
(R):5'- CAGACTTCAAGACAGTTGATGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation