Incidental Mutation 'R6983:Slc2a9'
| ID |
542776 |
| 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 |
045090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38506616-38660486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 38549064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 243
(I243S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118430
(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: I228S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005238
Gene: ENSMUSG00000005107
AA Change: I228S
| 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 |
possibly damaging
Transcript: ENSMUST00000067872
AA Change: I335S
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066872
Gene: ENSMUSG00000005107
AA Change: I335S
| 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 |
possibly damaging
Transcript: ENSMUST00000067886
AA Change: I350S
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000063352
Gene: ENSMUSG00000005107
AA Change: I350S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000117390
Gene: ENSMUSG00000005107
| 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 |
possibly damaging
Transcript: ENSMUST00000129099
AA Change: I335S
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122723
Gene: ENSMUSG00000005107
AA Change: I335S
| 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: I243S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118430
Gene: ENSMUSG00000005107
AA Change: I243S
| 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 |
possibly damaging
Transcript: ENSMUST00000155634
AA Change: I335S
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116354
Gene: ENSMUSG00000005107
AA Change: I335S
| 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: I127S
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144374
Gene: ENSMUSG00000005107
AA Change: I127S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
40 |
111 |
4.5e-9 |
PFAM |
|
transmembrane domain
|
140 |
157 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (65/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,953,686 (GRCm39) |
V530A |
probably benign |
Het |
| Adgrg6 |
T |
C |
10: 14,307,439 (GRCm39) |
N816D |
probably damaging |
Het |
| Aebp2 |
T |
C |
6: 140,583,389 (GRCm39) |
F288L |
possibly damaging |
Het |
| Afdn |
T |
C |
17: 14,101,583 (GRCm39) |
S1024P |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 52,934,436 (GRCm39) |
K643Q |
probably damaging |
Het |
| Atg2a |
A |
T |
19: 6,310,070 (GRCm39) |
D1751V |
probably damaging |
Het |
| Best2 |
T |
A |
8: 85,736,405 (GRCm39) |
I253F |
probably benign |
Het |
| Bmp1 |
G |
T |
14: 70,745,647 (GRCm39) |
P55T |
probably damaging |
Het |
| C1s1 |
C |
A |
6: 124,517,855 (GRCm39) |
V42F |
possibly damaging |
Het |
| Ccdc115 |
A |
G |
1: 34,478,122 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
C |
T |
19: 6,371,698 (GRCm39) |
P1326S |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,092,379 (GRCm39) |
T744I |
probably benign |
Het |
| Cit |
T |
G |
5: 116,132,150 (GRCm39) |
L1745R |
probably damaging |
Het |
| Commd6 |
A |
T |
14: 101,874,488 (GRCm39) |
S39T |
probably damaging |
Het |
| Crot |
T |
G |
5: 9,028,280 (GRCm39) |
Y223S |
probably benign |
Het |
| Crybg1 |
G |
T |
10: 43,875,338 (GRCm39) |
A590D |
probably damaging |
Het |
| Cwf19l2 |
G |
A |
9: 3,477,817 (GRCm39) |
E841K |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,717,730 (GRCm39) |
Y576H |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 38,022,822 (GRCm39) |
V749E |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,021,698 (GRCm39) |
D1391V |
probably damaging |
Het |
| Foxf2 |
T |
A |
13: 31,811,180 (GRCm39) |
M373K |
probably benign |
Het |
| Fstl1 |
A |
T |
16: 37,651,980 (GRCm39) |
E287D |
probably benign |
Het |
| Gltpd2 |
T |
C |
11: 70,411,110 (GRCm39) |
Y134H |
probably damaging |
Het |
| Hemgn |
T |
A |
4: 46,395,997 (GRCm39) |
H413L |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Hykk |
T |
C |
9: 54,853,793 (GRCm39) |
S372P |
probably benign |
Het |
| Inava |
A |
G |
1: 136,147,894 (GRCm39) |
S353P |
possibly damaging |
Het |
| Ints10 |
T |
C |
8: 69,246,703 (GRCm39) |
V11A |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,614,635 (GRCm39) |
V306A |
probably benign |
Het |
| Lamtor2 |
G |
A |
3: 88,460,146 (GRCm39) |
Q9* |
probably null |
Het |
| Lonp2 |
T |
A |
8: 87,350,876 (GRCm39) |
V22E |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,179,739 (GRCm39) |
E383G |
probably damaging |
Het |
| Man2b1 |
T |
A |
8: 85,817,700 (GRCm39) |
|
probably null |
Het |
| Mtch1 |
T |
C |
17: 29,557,750 (GRCm39) |
I243V |
probably damaging |
Het |
| Myo18a |
T |
A |
11: 77,736,341 (GRCm39) |
M1546K |
probably benign |
Het |
| Ntf3 |
T |
C |
6: 126,078,808 (GRCm39) |
T233A |
probably damaging |
Het |
| Omg |
T |
C |
11: 79,392,764 (GRCm39) |
S365G |
probably benign |
Het |
| Or52ad1 |
C |
T |
7: 102,996,022 (GRCm39) |
V38I |
probably benign |
Het |
| Otol1 |
T |
A |
3: 69,935,374 (GRCm39) |
N455K |
probably damaging |
Het |
| Pakap |
T |
A |
4: 57,709,973 (GRCm39) |
V306D |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,625,552 (GRCm39) |
Y1349N |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,271,469 (GRCm39) |
L368P |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,330,030 (GRCm39) |
I194K |
possibly damaging |
Het |
| Podn |
T |
C |
4: 107,881,470 (GRCm39) |
|
probably null |
Het |
| Potefam1 |
A |
G |
2: 111,058,595 (GRCm39) |
|
probably null |
Het |
| Pramel6 |
A |
T |
2: 87,339,923 (GRCm39) |
E229V |
possibly damaging |
Het |
| Ptpro |
C |
T |
6: 137,426,915 (GRCm39) |
P262L |
probably damaging |
Het |
| Rnf122 |
A |
T |
8: 31,608,488 (GRCm39) |
T19S |
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,635,585 (GRCm39) |
Y320N |
possibly damaging |
Het |
| Slc5a6 |
A |
T |
5: 31,197,749 (GRCm39) |
M130K |
probably benign |
Het |
| Stx5a |
A |
G |
19: 8,732,533 (GRCm39) |
|
probably benign |
Het |
| Tbr1 |
G |
T |
2: 61,642,079 (GRCm39) |
G185V |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,565,207 (GRCm39) |
D1183G |
probably benign |
Het |
| Thbs1 |
A |
T |
2: 117,950,433 (GRCm39) |
I689F |
probably damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Trub2 |
A |
T |
2: 29,677,796 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,597,306 (GRCm39) |
V19869A |
probably damaging |
Het |
| Tufm |
T |
C |
7: 126,088,607 (GRCm39) |
V303A |
possibly damaging |
Het |
| Vezf1 |
T |
C |
11: 87,964,145 (GRCm39) |
I99T |
possibly damaging |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,118 (GRCm39) |
V19A |
probably benign |
Het |
| Xpc |
C |
T |
6: 91,481,005 (GRCm39) |
R289K |
probably damaging |
Het |
| Zfp811 |
T |
A |
17: 33,016,406 (GRCm39) |
K545* |
probably null |
Het |
| Zmiz2 |
G |
A |
11: 6,352,413 (GRCm39) |
D623N |
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 |
|
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 |
|
R9167:Slc2a9
|
UTSW |
5 |
38,549,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTGACCACACTGTCCAG -3'
(R):5'- ACCTTAGTCTATTGTGGGAAGGAG -3'
Sequencing Primer
(F):5'- TGTCCAGCATCACACAGCCAG -3'
(R):5'- AGCTGAGGTCTCTGGATGACC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation