Incidental Mutation 'R1014:Slc2a3'
| ID |
96000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc2a3
|
| Ensembl Gene |
ENSMUSG00000003153 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 3 |
| Synonyms |
Glut-3, Glut3 |
| MMRRC Submission |
039118-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1014 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
122704768-122778599 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122708525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 367
(I367V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032476]
[ENSMUST00000166135]
|
| AlphaFold |
P32037 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032476
AA Change: I367V
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032476
Gene: ENSMUSG00000003153
AA Change: I367V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
13 |
465 |
5.9e-165 |
PFAM |
|
Pfam:MFS_1
|
16 |
385 |
7.1e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166135
|
| SMART Domains |
Protein: ENSMUSP00000132586
Gene: ENSMUSG00000003153
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
13 |
63 |
9.8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169979
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mutations cause embryonic lethality. Heterozygotes for a null allele show partial perinatal lethality and impaired placental transport. Heterozygotes for a gene trap allele show abnormal brain wave patterns, increased startle reflex, reduced prepulse inhibition and increased anxiety. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
T |
C |
4: 126,400,578 (GRCm39) |
R712G |
probably damaging |
Het |
| Arg1 |
C |
A |
10: 24,792,758 (GRCm39) |
V159L |
probably benign |
Het |
| Caap1 |
C |
T |
4: 94,437,383 (GRCm39) |
C193Y |
probably benign |
Het |
| Cdh12 |
A |
T |
15: 21,492,706 (GRCm39) |
M242L |
probably damaging |
Het |
| Col19a1 |
A |
T |
1: 24,340,354 (GRCm39) |
|
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,674 (GRCm39) |
T101A |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,638 (GRCm39) |
C407R |
probably damaging |
Het |
| Ebf4 |
T |
C |
2: 130,207,388 (GRCm39) |
S484P |
probably benign |
Het |
| Gm10300 |
A |
G |
4: 131,802,023 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,808,645 (GRCm39) |
I105T |
possibly damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,132,306 (GRCm39) |
|
probably null |
Het |
| Musk |
T |
C |
4: 58,354,156 (GRCm39) |
L403P |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,054,274 (GRCm39) |
K363R |
possibly damaging |
Het |
| Nadk2 |
T |
C |
15: 9,091,334 (GRCm39) |
F202L |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,077,355 (GRCm39) |
T897M |
possibly damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,383 (GRCm39) |
W86R |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,684,928 (GRCm39) |
D465G |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,556,422 (GRCm39) |
L584Q |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,303 (GRCm39) |
L561P |
probably damaging |
Het |
| Pck2 |
A |
G |
14: 55,779,867 (GRCm39) |
S12G |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,353 (GRCm39) |
D726G |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,542,194 (GRCm39) |
A799E |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,662,739 (GRCm39) |
Y117C |
probably benign |
Het |
| Poldip2 |
T |
A |
11: 78,405,988 (GRCm39) |
D106E |
probably damaging |
Het |
| Ppm1d |
C |
A |
11: 85,227,980 (GRCm39) |
H299N |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,643 (GRCm39) |
Y911C |
probably damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rtf1 |
T |
G |
2: 119,550,727 (GRCm39) |
S329A |
possibly damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,054,882 (GRCm39) |
I841T |
probably benign |
Het |
| Slc30a8 |
A |
G |
15: 52,194,993 (GRCm39) |
T251A |
probably damaging |
Het |
| Spryd3 |
T |
A |
15: 102,041,966 (GRCm39) |
N19Y |
probably damaging |
Het |
| Tll2 |
A |
T |
19: 41,092,290 (GRCm39) |
Y516N |
probably damaging |
Het |
| Tlr5 |
G |
A |
1: 182,803,242 (GRCm39) |
G849R |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,583,192 (GRCm39) |
E376G |
probably damaging |
Het |
| Zfp318 |
GAA |
GAANAA |
17: 46,723,462 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc2a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01661:Slc2a3
|
APN |
6 |
122,706,915 (GRCm39) |
missense |
probably benign |
|
|
IGL02056:Slc2a3
|
APN |
6 |
122,712,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02267:Slc2a3
|
APN |
6 |
122,716,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02873:Slc2a3
|
APN |
6 |
122,717,373 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03275:Slc2a3
|
APN |
6 |
122,713,701 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1464:Slc2a3
|
UTSW |
6 |
122,714,269 (GRCm39) |
splice site |
probably benign |
|
|
R1920:Slc2a3
|
UTSW |
6 |
122,713,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1990:Slc2a3
|
UTSW |
6 |
122,713,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3809:Slc2a3
|
UTSW |
6 |
122,709,388 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4094:Slc2a3
|
UTSW |
6 |
122,712,527 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4537:Slc2a3
|
UTSW |
6 |
122,714,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Slc2a3
|
UTSW |
6 |
122,714,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5186:Slc2a3
|
UTSW |
6 |
122,712,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5784:Slc2a3
|
UTSW |
6 |
122,712,376 (GRCm39) |
splice site |
probably null |
|
|
R9087:Slc2a3
|
UTSW |
6 |
122,717,408 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9403:Slc2a3
|
UTSW |
6 |
122,713,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9636:Slc2a3
|
UTSW |
6 |
122,709,362 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9639:Slc2a3
|
UTSW |
6 |
122,714,199 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTTAGCACAATCATTTCCCCTAAGG -3'
(R):5'- AGACATTGGCTGTGACAGAAATCACTC -3'
Sequencing Primer
(F):5'- CAATCATTTCCCCTAAGGTGAATC -3'
(R):5'- GACAGCAGCTCTGAAAATGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation