Incidental Mutation 'R6116:Slc2a10'
| ID |
485107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc2a10
|
| Ensembl Gene |
ENSMUSG00000027661 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 10 |
| Synonyms |
Glut10 |
| MMRRC Submission |
044265-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R6116 (G1)
|
| Quality Score |
220.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
165345817-165361837 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 165359623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 496
(T496P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029196]
|
| AlphaFold |
Q8VHD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029196
AA Change: T496P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029196
Gene: ENSMUSG00000027661
AA Change: T496P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
10 |
333 |
1.7e-51 |
PFAM |
|
Pfam:MFS_1
|
14 |
337 |
1.1e-28 |
PFAM |
|
Pfam:Sugar_tr
|
387 |
508 |
3.9e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148463
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a class III facilitative glucose transporter. Mutations in the related gene in human are associated with arterial tortuosity syndrome. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice carrying ENU-induced mutations in this gene display thickening and aberrant vessel wall shape of large and medium size arteries, with significantly increased elastic fiber number and size. Cerebral arteries appear normal with no evidence of tortuosity, stenosis/dilatation or aneurysm. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,990,327 (GRCm39) |
|
probably benign |
Het |
| Apc |
A |
T |
18: 34,449,508 (GRCm39) |
I2101F |
probably damaging |
Het |
| Bpifa3 |
G |
A |
2: 153,975,633 (GRCm39) |
V68I |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,261,864 (GRCm39) |
I878F |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,605,879 (GRCm39) |
M339K |
probably damaging |
Het |
| Dock3 |
A |
G |
9: 106,809,161 (GRCm39) |
Y1321H |
probably damaging |
Het |
| Dsc1 |
G |
T |
18: 20,230,356 (GRCm39) |
D316E |
probably benign |
Het |
| Eno3 |
C |
T |
11: 70,552,401 (GRCm39) |
T351M |
possibly damaging |
Het |
| Erbb2 |
T |
A |
11: 98,318,225 (GRCm39) |
F487Y |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,657,810 (GRCm39) |
L652P |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,705,206 (GRCm39) |
M470K |
probably damaging |
Het |
| Gm15446 |
T |
A |
5: 110,090,902 (GRCm39) |
C385S |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,716,271 (GRCm39) |
E581G |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,898,205 (GRCm39) |
D787G |
probably benign |
Het |
| Igkv12-44 |
T |
C |
6: 69,791,838 (GRCm39) |
T42A |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,679,939 (GRCm39) |
|
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,726,460 (GRCm39) |
E84G |
probably damaging |
Het |
| Lpar3 |
T |
A |
3: 145,946,352 (GRCm39) |
M10K |
possibly damaging |
Het |
| Lpin2 |
A |
G |
17: 71,550,925 (GRCm39) |
D695G |
probably damaging |
Het |
| Mosmo |
T |
A |
7: 120,325,418 (GRCm39) |
L7H |
probably damaging |
Het |
| Ms4a8a |
C |
T |
19: 11,058,436 (GRCm39) |
A9T |
unknown |
Het |
| Myb |
T |
C |
10: 21,030,653 (GRCm39) |
D48G |
probably damaging |
Het |
| Neurod6 |
T |
C |
6: 55,655,776 (GRCm39) |
Y287C |
probably damaging |
Het |
| Olr1 |
T |
A |
6: 129,476,947 (GRCm39) |
D106V |
probably damaging |
Het |
| Or11a4 |
A |
G |
17: 37,536,459 (GRCm39) |
T148A |
probably benign |
Het |
| Or8b4 |
A |
G |
9: 37,829,955 (GRCm39) |
M1V |
probably null |
Het |
| Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,004,127 (GRCm39) |
Y505C |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,745,190 (GRCm39) |
I702F |
probably damaging |
Het |
| Slc16a11 |
T |
C |
11: 70,106,262 (GRCm39) |
F119L |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,353,206 (GRCm39) |
Y181H |
probably damaging |
Het |
| Spata31e5 |
G |
A |
1: 28,817,780 (GRCm39) |
A84V |
probably benign |
Het |
| Stab2 |
G |
T |
10: 86,743,054 (GRCm39) |
P1185Q |
probably damaging |
Het |
| Tcf7l2 |
T |
A |
19: 55,907,446 (GRCm39) |
S335R |
probably damaging |
Het |
| Ttc41 |
G |
A |
10: 86,594,952 (GRCm39) |
|
probably null |
Het |
| Vmn2r32 |
A |
T |
7: 7,467,092 (GRCm39) |
I812N |
probably damaging |
Het |
| Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
|
| Other mutations in Slc2a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Slc2a10
|
APN |
2 |
165,356,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01465:Slc2a10
|
APN |
2 |
165,359,597 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02565:Slc2a10
|
APN |
2 |
165,357,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02902:Slc2a10
|
APN |
2 |
165,360,142 (GRCm39) |
missense |
probably benign |
0.08 |
|
PIT4362001:Slc2a10
|
UTSW |
2 |
165,358,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1453:Slc2a10
|
UTSW |
2 |
165,359,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Slc2a10
|
UTSW |
2 |
165,357,361 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1850:Slc2a10
|
UTSW |
2 |
165,357,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1920:Slc2a10
|
UTSW |
2 |
165,356,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2269:Slc2a10
|
UTSW |
2 |
165,356,701 (GRCm39) |
nonsense |
probably null |
|
|
R3921:Slc2a10
|
UTSW |
2 |
165,357,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4407:Slc2a10
|
UTSW |
2 |
165,356,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4575:Slc2a10
|
UTSW |
2 |
165,358,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4864:Slc2a10
|
UTSW |
2 |
165,356,541 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4923:Slc2a10
|
UTSW |
2 |
165,356,676 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4935:Slc2a10
|
UTSW |
2 |
165,359,578 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4954:Slc2a10
|
UTSW |
2 |
165,356,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5681:Slc2a10
|
UTSW |
2 |
165,356,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5782:Slc2a10
|
UTSW |
2 |
165,356,758 (GRCm39) |
nonsense |
probably null |
|
|
R6713:Slc2a10
|
UTSW |
2 |
165,357,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Slc2a10
|
UTSW |
2 |
165,357,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:Slc2a10
|
UTSW |
2 |
165,357,197 (GRCm39) |
missense |
probably benign |
|
|
R7568:Slc2a10
|
UTSW |
2 |
165,356,802 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8323:Slc2a10
|
UTSW |
2 |
165,356,671 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8407:Slc2a10
|
UTSW |
2 |
165,356,787 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9147:Slc2a10
|
UTSW |
2 |
165,357,543 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9148:Slc2a10
|
UTSW |
2 |
165,357,543 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9632:Slc2a10
|
UTSW |
2 |
165,358,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACTGCTGGCTCTACACC -3'
(R):5'- AGCCACCGTCTAATGATACAAGATAG -3'
Sequencing Primer
(F):5'- TCTACACCCAGGAGCTGCTTG -3'
(R):5'- CGTCTAATGATACAAGATAGCTGAAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation