Incidental Mutation 'R8212:Slc2a9'
| ID |
636204 |
| 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 |
067635-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R8212 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38506616-38660486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 38637402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 25
(H25N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005238]
[ENSMUST00000067872]
[ENSMUST00000067886]
[ENSMUST00000122970]
[ENSMUST00000129099]
[ENSMUST00000143758]
[ENSMUST00000147664]
[ENSMUST00000155634]
[ENSMUST00000156272]
|
| AlphaFold |
Q3T9X0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005238
|
| SMART Domains |
Protein: ENSMUSP00000005238
Gene: ENSMUSG00000005107
| 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 benign
Transcript: ENSMUST00000067872
|
| SMART Domains |
Protein: ENSMUSP00000066872
Gene: ENSMUSG00000005107
| 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: ENSMUST00000067886
AA Change: H25N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000063352
Gene: ENSMUSG00000005107
AA Change: H25N
| 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: H25N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117390
Gene: ENSMUSG00000005107
AA Change: H25N
| 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 benign
Transcript: ENSMUST00000129099
|
| SMART Domains |
Protein: ENSMUSP00000122723
Gene: ENSMUSG00000005107
| 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 |
unknown
Transcript: ENSMUST00000143758
AA Change: H25N
|
| SMART Domains |
Protein: ENSMUSP00000118430
Gene: ENSMUSG00000005107
AA Change: H25N
| 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 benign
Transcript: ENSMUST00000147664
|
| SMART Domains |
Protein: ENSMUSP00000119586
Gene: ENSMUSG00000005107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
25 |
143 |
9.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155634
|
| SMART Domains |
Protein: ENSMUSP00000116354
Gene: ENSMUSG00000005107
| 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: H25N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000144374
Gene: ENSMUSG00000005107
AA Change: H25N
| 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: 99.9%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
97% (37/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,670,240 (GRCm39) |
I2369V |
probably benign |
Het |
| Ager |
G |
A |
17: 34,819,586 (GRCm39) |
R368H |
possibly damaging |
Het |
| Arl2 |
G |
T |
19: 6,187,596 (GRCm39) |
T84K |
probably damaging |
Het |
| Cfap126 |
A |
T |
1: 170,953,630 (GRCm39) |
T67S |
probably damaging |
Het |
| Cfap45 |
A |
G |
1: 172,369,067 (GRCm39) |
|
probably null |
Het |
| Cfdp1 |
A |
T |
8: 112,571,815 (GRCm39) |
N31K |
probably damaging |
Het |
| Clpx |
A |
G |
9: 65,228,173 (GRCm39) |
T408A |
possibly damaging |
Het |
| Cobll1 |
T |
C |
2: 64,932,424 (GRCm39) |
N526S |
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,920,134 (GRCm39) |
D215G |
probably damaging |
Het |
| Cstf1 |
T |
C |
2: 172,219,872 (GRCm39) |
S328P |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,637,205 (GRCm39) |
E193G |
possibly damaging |
Het |
| Fam83c |
A |
G |
2: 155,671,207 (GRCm39) |
F743L |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,682,064 (GRCm39) |
I364T |
probably benign |
Het |
| Foxo3 |
T |
C |
10: 42,072,991 (GRCm39) |
M509V |
possibly damaging |
Het |
| Galnt6 |
T |
C |
15: 100,591,308 (GRCm39) |
T599A |
probably benign |
Het |
| Gm5114 |
A |
G |
7: 39,060,676 (GRCm39) |
S58P |
probably benign |
Het |
| Gria4 |
G |
A |
9: 4,480,242 (GRCm39) |
A402V |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,946,012 (GRCm39) |
A1200S |
probably benign |
Het |
| Nlrp5 |
A |
T |
7: 23,116,762 (GRCm39) |
D162V |
probably benign |
Het |
| Or14j6 |
T |
C |
17: 38,215,148 (GRCm39) |
V237A |
probably benign |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pcf11 |
G |
A |
7: 92,308,706 (GRCm39) |
R589C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,362,696 (GRCm39) |
D574G |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,422,250 (GRCm39) |
S68P |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,460,188 (GRCm39) |
M95V |
probably damaging |
Het |
| Polr2h |
T |
C |
16: 20,536,746 (GRCm39) |
|
probably null |
Het |
| Ppef2 |
T |
A |
5: 92,376,524 (GRCm39) |
I668L |
possibly damaging |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rwdd1 |
A |
G |
10: 33,878,523 (GRCm39) |
V104A |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,015,907 (GRCm39) |
I416F |
probably damaging |
Het |
| Sppl2b |
T |
A |
10: 80,701,193 (GRCm39) |
V356D |
probably damaging |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,555,918 (GRCm39) |
T99A |
probably damaging |
Het |
| Tm9sf3 |
A |
T |
19: 41,229,074 (GRCm39) |
M243K |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,746,832 (GRCm39) |
Y6H |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,612,626 (GRCm39) |
H17151L |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,439,624 (GRCm39) |
V182A |
possibly damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,310,373 (GRCm39) |
D724E |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,569 (GRCm39) |
V946D |
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 |
|
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'- TCATTCTCAGTGCCCTGATG -3'
(R):5'- TGATCACAGAGCCACGCTTC -3'
Sequencing Primer
(F):5'- CCTGATGGGATGGCAGAGGTG -3'
(R):5'- AGAGCCACGCTTCCTGCTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation