Incidental Mutation 'R9639:Slc2a3'
| ID |
725873 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9639 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
122704768-122778599 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122714199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 110
(F110L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032476]
[ENSMUST00000165884]
[ENSMUST00000166135]
[ENSMUST00000168801]
[ENSMUST00000170724]
[ENSMUST00000171541]
|
| AlphaFold |
P32037 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032476
AA Change: F110L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000032476
Gene: ENSMUSG00000003153
AA Change: F110L
| 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: ENSMUST00000165884
AA Change: F112L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000129925
Gene: ENSMUSG00000003153
AA Change: F112L
| 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 |
possibly damaging
Transcript: ENSMUST00000166135
AA Change: I56T
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132586
Gene: ENSMUSG00000003153
AA Change: I56T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
13 |
63 |
9.8e-7 |
PFAM |
|
| 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 |
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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,893,345 (GRCm39) |
D1265G |
probably benign |
Het |
| Baz2b |
T |
A |
2: 59,731,828 (GRCm39) |
N2070I |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Chd9 |
A |
T |
8: 91,760,840 (GRCm39) |
E2195V |
probably null |
Het |
| Cracd |
T |
C |
5: 77,005,997 (GRCm39) |
V786A |
unknown |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Ddx11 |
A |
G |
17: 66,437,012 (GRCm39) |
D102G |
|
Het |
| Egf |
T |
C |
3: 129,513,949 (GRCm39) |
T421A |
possibly damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,316,107 (GRCm39) |
V365A |
|
Het |
| Gmps |
T |
A |
3: 63,922,938 (GRCm39) |
S634T |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Lyplal1 |
A |
T |
1: 185,849,409 (GRCm39) |
C13* |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,433,817 (GRCm39) |
W2255R |
probably damaging |
Het |
| Myo5c |
C |
A |
9: 75,165,477 (GRCm39) |
H428Q |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,333,948 (GRCm39) |
T1005A |
possibly damaging |
Het |
| Or2bd2 |
A |
T |
7: 6,443,290 (GRCm39) |
R130S |
probably benign |
Het |
| Pcdh12 |
C |
T |
18: 38,402,032 (GRCm39) |
M1123I |
probably damaging |
Het |
| Pdzrn3 |
A |
G |
6: 101,146,172 (GRCm39) |
S393P |
probably benign |
Het |
| Pgr |
A |
T |
9: 8,900,994 (GRCm39) |
S176C |
possibly damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,022,713 (GRCm39) |
N312S |
probably benign |
Het |
| Qrich2 |
G |
A |
11: 116,346,924 (GRCm39) |
P1300L |
probably benign |
Het |
| Sap130 |
T |
C |
18: 31,844,789 (GRCm39) |
|
probably null |
Het |
| Slc15a3 |
T |
A |
19: 10,820,717 (GRCm39) |
Y111* |
probably null |
Het |
| Slc26a9 |
A |
G |
1: 131,678,409 (GRCm39) |
E25G |
probably damaging |
Het |
| Spesp1 |
A |
T |
9: 62,180,238 (GRCm39) |
D223E |
possibly damaging |
Het |
| St18 |
T |
C |
1: 6,929,246 (GRCm39) |
I46T |
|
Het |
| Trmt6 |
T |
A |
2: 132,650,862 (GRCm39) |
K249* |
probably null |
Het |
| Ttll10 |
A |
T |
4: 156,119,503 (GRCm39) |
I632K |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,518 (GRCm39) |
N67S |
probably benign |
Het |
| Vmn1r28 |
C |
T |
6: 58,242,996 (GRCm39) |
Q280* |
probably null |
Het |
| Vmn2r38 |
T |
G |
7: 9,078,063 (GRCm39) |
D773A |
probably damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,372,352 (GRCm39) |
Y54C |
probably damaging |
Het |
| Ywhae |
G |
A |
11: 75,650,248 (GRCm39) |
G237S |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,836,714 (GRCm39) |
E666G |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACCTGAGCTACCAGAATCCC -3'
(R):5'- CCTAAGGTATAGCGAAGTGGTG -3'
Sequencing Primer
(F):5'- CAACAACGATGCCCAGCTGG -3'
(R):5'- GGGTCCCTCAAGTCCACAAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation