Incidental Mutation 'R9167:Slc2a9'
| ID |
696121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc2a9
|
| Ensembl Gene |
ENSMUSG00000005107 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 9 |
| Synonyms |
Glut9, SLC2A9B, SLC2a9A |
| MMRRC Submission |
068946-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R9167 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38506616-38660486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38549092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 341
(T341S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005238]
[ENSMUST00000067872]
[ENSMUST00000067886]
[ENSMUST00000122970]
[ENSMUST00000129099]
[ENSMUST00000143758]
[ENSMUST00000155634]
[ENSMUST00000156272]
|
| AlphaFold |
Q3T9X0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005238
AA Change: T219S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005238
Gene: ENSMUSG00000005107
AA Change: T219S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
20 |
208 |
3.5e-10 |
PFAM |
|
Pfam:Sugar_tr
|
25 |
188 |
1.1e-35 |
PFAM |
|
Pfam:Sugar_tr
|
191 |
373 |
5.3e-39 |
PFAM |
|
Pfam:MFS_1
|
196 |
397 |
1.2e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067872
AA Change: T326S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066872
Gene: ENSMUSG00000005107
AA Change: T326S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
329 |
2.2e-16 |
PFAM |
|
Pfam:Sugar_tr
|
25 |
480 |
2.5e-103 |
PFAM |
|
Pfam:MFS_1
|
321 |
502 |
3.3e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067886
AA Change: T341S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063352
Gene: ENSMUSG00000005107
AA Change: T341S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
37 |
344 |
1.7e-16 |
PFAM |
|
Pfam:Sugar_tr
|
40 |
495 |
9.8e-107 |
PFAM |
|
Pfam:MFS_1
|
328 |
518 |
1.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122970
AA Change: H278L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000117390
Gene: ENSMUSG00000005107
AA Change: H278L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
28 |
269 |
7.5e-14 |
PFAM |
|
Pfam:Sugar_tr
|
40 |
260 |
2e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129099
AA Change: T326S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122723
Gene: ENSMUSG00000005107
AA Change: T326S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
329 |
2.2e-16 |
PFAM |
|
Pfam:Sugar_tr
|
25 |
480 |
2.5e-103 |
PFAM |
|
Pfam:MFS_1
|
321 |
502 |
3.3e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143758
AA Change: T234S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118430
Gene: ENSMUSG00000005107
AA Change: T234S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
37 |
223 |
4.2e-10 |
PFAM |
|
Pfam:Sugar_tr
|
40 |
203 |
1.2e-35 |
PFAM |
|
Pfam:Sugar_tr
|
206 |
388 |
5.8e-39 |
PFAM |
|
Pfam:MFS_1
|
209 |
411 |
2.2e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155634
AA Change: T326S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116354
Gene: ENSMUSG00000005107
AA Change: T326S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
329 |
2.2e-16 |
PFAM |
|
Pfam:Sugar_tr
|
25 |
480 |
2.5e-103 |
PFAM |
|
Pfam:MFS_1
|
321 |
502 |
3.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156272
AA Change: T118S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000144374
Gene: ENSMUSG00000005107
AA Change: T118S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
40 |
111 |
4.5e-9 |
PFAM |
|
transmembrane domain
|
140 |
157 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show partial prenatal lethality, polydipsia, hyperuricemia, hyperuricosuria and polyuria, and develop urate nephropathy, characterized by obstructive lithiasis, tubulointerstitial inflammation, cortical fibrosis, renal insufficiency and reduced male weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
A |
11: 119,901,952 (GRCm39) |
V815F |
possibly damaging |
Het |
| Abcb4 |
T |
A |
5: 8,986,849 (GRCm39) |
L756* |
probably null |
Het |
| Acrbp |
T |
C |
6: 125,039,942 (GRCm39) |
L515P |
probably damaging |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Atic |
T |
A |
1: 71,604,040 (GRCm39) |
I201N |
probably benign |
Het |
| Avpr1b |
T |
C |
1: 131,537,151 (GRCm39) |
S312P |
probably damaging |
Het |
| Cables1 |
T |
C |
18: 12,039,029 (GRCm39) |
V314A |
possibly damaging |
Het |
| Cd22 |
G |
A |
7: 30,575,430 (GRCm39) |
T204I |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,828,920 (GRCm39) |
N95D |
|
Het |
| Ctla4 |
C |
T |
1: 60,951,695 (GRCm39) |
R75W |
probably damaging |
Het |
| Cul7 |
A |
G |
17: 46,966,623 (GRCm39) |
M649V |
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,802,915 (GRCm39) |
V479E |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,657,370 (GRCm39) |
N802S |
probably benign |
Het |
| Fmn2 |
G |
T |
1: 174,331,056 (GRCm39) |
R482L |
unknown |
Het |
| Fyn |
T |
G |
10: 39,402,811 (GRCm39) |
D194E |
probably benign |
Het |
| Hdac4 |
G |
A |
1: 91,875,256 (GRCm39) |
T905M |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,411,900 (GRCm39) |
I4707V |
possibly damaging |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,430 (GRCm39) |
I277T |
possibly damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,096,741 (GRCm39) |
D121G |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,506,200 (GRCm39) |
E899G |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,542,840 (GRCm39) |
L152* |
probably null |
Het |
| Krt73 |
A |
G |
15: 101,702,405 (GRCm39) |
V486A |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,347,658 (GRCm39) |
K3012N |
unknown |
Het |
| Musk |
A |
T |
4: 58,296,687 (GRCm39) |
I96F |
probably benign |
Het |
| Myrfl |
A |
G |
10: 116,667,450 (GRCm39) |
V330A |
probably damaging |
Het |
| Nanp |
A |
T |
2: 150,872,728 (GRCm39) |
C67S |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,039,951 (GRCm39) |
N758S |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 89,154,068 (GRCm39) |
V345D |
probably damaging |
Het |
| Nsun7 |
G |
A |
5: 66,435,994 (GRCm39) |
V289I |
possibly damaging |
Het |
| Or52d1 |
A |
G |
7: 103,756,426 (GRCm39) |
*313W |
probably null |
Het |
| Pde4a |
T |
C |
9: 21,102,798 (GRCm39) |
S161P |
probably benign |
Het |
| Pom121l2 |
C |
T |
13: 22,167,160 (GRCm39) |
A477V |
probably damaging |
Het |
| Rest |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
5: 77,429,651 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,664,398 (GRCm39) |
I1651N |
probably damaging |
Het |
| Serpinb6e |
A |
G |
13: 34,023,009 (GRCm39) |
F125L |
possibly damaging |
Het |
| Taf3 |
A |
G |
2: 9,945,804 (GRCm39) |
V600A |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,624,724 (GRCm39) |
V1742A |
probably benign |
Het |
| Tlx2 |
T |
A |
6: 83,046,042 (GRCm39) |
K211* |
probably null |
Het |
| Tmem266 |
A |
G |
9: 55,322,231 (GRCm39) |
D174G |
probably damaging |
Het |
| Tpm3 |
T |
A |
3: 89,994,824 (GRCm39) |
I147N |
probably benign |
Het |
| Unc93a |
T |
C |
17: 13,335,108 (GRCm39) |
K313E |
possibly damaging |
Het |
| Vmn1r9 |
A |
C |
6: 57,048,138 (GRCm39) |
E71A |
probably benign |
Het |
| Vwa2 |
T |
A |
19: 56,899,063 (GRCm39) |
D754E |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,613,460 (GRCm39) |
V18A |
probably damaging |
Het |
|
| Other mutations in Slc2a9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02232:Slc2a9
|
APN |
5 |
38,594,013 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02505:Slc2a9
|
APN |
5 |
38,594,002 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03096:Slc2a9
|
APN |
5 |
38,508,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
transporter9
|
UTSW |
5 |
38,539,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Slc2a9
|
UTSW |
5 |
38,556,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0395:Slc2a9
|
UTSW |
5 |
38,610,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0599:Slc2a9
|
UTSW |
5 |
38,637,487 (GRCm39) |
start gained |
probably benign |
|
|
R0610:Slc2a9
|
UTSW |
5 |
38,537,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0993:Slc2a9
|
UTSW |
5 |
38,539,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1166:Slc2a9
|
UTSW |
5 |
38,539,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1710:Slc2a9
|
UTSW |
5 |
38,539,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Slc2a9
|
UTSW |
5 |
38,610,542 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2257:Slc2a9
|
UTSW |
5 |
38,610,542 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4066:Slc2a9
|
UTSW |
5 |
38,640,692 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4193:Slc2a9
|
UTSW |
5 |
38,556,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4502:Slc2a9
|
UTSW |
5 |
38,556,154 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4734:Slc2a9
|
UTSW |
5 |
38,539,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Slc2a9
|
UTSW |
5 |
38,574,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5218:Slc2a9
|
UTSW |
5 |
38,610,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5885:Slc2a9
|
UTSW |
5 |
38,598,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Slc2a9
|
UTSW |
5 |
38,610,464 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6983:Slc2a9
|
UTSW |
5 |
38,549,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7173:Slc2a9
|
UTSW |
5 |
38,610,214 (GRCm39) |
splice site |
probably null |
|
|
R7286:Slc2a9
|
UTSW |
5 |
38,610,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7405:Slc2a9
|
UTSW |
5 |
38,549,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Slc2a9
|
UTSW |
5 |
38,574,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7594:Slc2a9
|
UTSW |
5 |
38,508,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8212:Slc2a9
|
UTSW |
5 |
38,637,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8508:Slc2a9
|
UTSW |
5 |
38,539,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTCCATAGAGCACAAGC -3'
(R):5'- CCCAAGAATGCAGGAGTCTG -3'
Sequencing Primer
(F):5'- GTCCATAGAGCACAAGCCCCTC -3'
(R):5'- AGCTCACCTGTGACTCTGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation