Incidental Mutation 'R4537:Slc2a3'
| ID |
333370 |
| 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 |
041774-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4537 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
122704768-122778599 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 122714063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 157
(G157V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032476]
[ENSMUST00000165884]
[ENSMUST00000166135]
[ENSMUST00000168801]
[ENSMUST00000170724]
[ENSMUST00000171541]
|
| AlphaFold |
P32037 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032476
AA Change: G155V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032476
Gene: ENSMUSG00000003153
AA Change: G155V
| 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 damaging
Transcript: ENSMUST00000165884
AA Change: G157V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129925
Gene: ENSMUSG00000003153
AA Change: G157V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
13 |
163 |
3.6e-12 |
PFAM |
|
Pfam:Sugar_tr
|
15 |
163 |
6.9e-49 |
PFAM |
|
Pfam:MFS_2
|
43 |
148 |
1.8e-8 |
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 |
probably benign
Transcript: ENSMUST00000168801
|
| SMART Domains |
Protein: ENSMUSP00000129604
Gene: ENSMUSG00000003153
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
13 |
70 |
1.8e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170724
|
| SMART Domains |
Protein: ENSMUSP00000128076
Gene: ENSMUSG00000003153
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
13 |
89 |
5.5e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171541
|
| Meta Mutation Damage Score |
0.9637 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
T |
A |
13: 14,294,746 (GRCm39) |
Y9* |
probably null |
Het |
| Aspm |
T |
C |
1: 139,402,041 (GRCm39) |
I1235T |
probably benign |
Het |
| Defb30 |
T |
C |
14: 63,273,525 (GRCm39) |
I29M |
probably damaging |
Het |
| Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
| Dpy19l3 |
T |
C |
7: 35,411,326 (GRCm39) |
T428A |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,399,424 (GRCm39) |
T560A |
probably benign |
Het |
| Fnip2 |
A |
G |
3: 79,373,021 (GRCm39) |
V1019A |
probably damaging |
Het |
| Fus |
A |
G |
7: 127,575,087 (GRCm39) |
D268G |
probably damaging |
Het |
| Gm14412 |
T |
A |
2: 177,006,352 (GRCm39) |
K514N |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,540,788 (GRCm39) |
L265P |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,562,083 (GRCm39) |
M589T |
probably benign |
Het |
| Hoxa1 |
G |
T |
6: 52,134,973 (GRCm39) |
Q77K |
probably benign |
Het |
| Ighv14-2 |
A |
G |
12: 113,958,512 (GRCm39) |
C3R |
probably benign |
Het |
| Itgb2 |
G |
A |
10: 77,397,050 (GRCm39) |
|
probably null |
Het |
| Mrpl24 |
A |
C |
3: 87,829,719 (GRCm39) |
K102Q |
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,252,591 (GRCm39) |
|
probably benign |
Het |
| Olig2 |
A |
G |
16: 91,023,732 (GRCm39) |
I149V |
probably damaging |
Het |
| Or10g9 |
T |
A |
9: 39,911,616 (GRCm39) |
K302N |
probably benign |
Het |
| Or56a3b |
T |
A |
7: 104,776,227 (GRCm39) |
I84F |
probably damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,526 (GRCm39) |
I194N |
possibly damaging |
Het |
| Oxr1 |
A |
G |
15: 41,683,915 (GRCm39) |
Q515R |
possibly damaging |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Slc25a12 |
T |
A |
2: 71,105,450 (GRCm39) |
|
probably benign |
Het |
| Slc5a4a |
C |
T |
10: 76,013,929 (GRCm39) |
R379* |
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sprr2f |
A |
T |
3: 92,273,366 (GRCm39) |
Q55L |
unknown |
Het |
| Srd5a3 |
G |
A |
5: 76,297,798 (GRCm39) |
|
probably null |
Het |
| Tmtc1 |
C |
T |
6: 148,164,280 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
| Uspl1 |
A |
G |
5: 149,124,588 (GRCm39) |
T2A |
possibly damaging |
Het |
| Vmn2r87 |
T |
G |
10: 130,308,054 (GRCm39) |
H728P |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,194 (GRCm39) |
M284K |
possibly damaging |
Het |
| Zfp101 |
T |
A |
17: 33,601,466 (GRCm39) |
M59L |
possibly damaging |
Het |
| Zfp558 |
T |
C |
9: 18,368,798 (GRCm39) |
E146G |
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 |
|
|
R1014:Slc2a3
|
UTSW |
6 |
122,708,525 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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 |
|
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'- GCCTGTATCATTAGGTACCGTATG -3'
(R):5'- CTAGTCAACTTGCTGGCCATC -3'
Sequencing Primer
(F):5'- TCATTAGGTACCGTATGAACTACAG -3'
(R):5'- AACTTGCTGGCCATCATTGCG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation