Incidental Mutation 'R5218:Slc2a9'
| ID |
403594 |
| 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 |
042791-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R5218 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38506616-38660486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38610524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 92
(S92P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144374
(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
AA Change: S77P
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000005238
Gene: ENSMUSG00000005107
AA Change: S77P
| 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: S77P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066872
Gene: ENSMUSG00000005107
AA Change: S77P
| 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: S92P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063352
Gene: ENSMUSG00000005107
AA Change: S92P
| 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 damaging
Transcript: ENSMUST00000122970
AA Change: S92P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117390
Gene: ENSMUSG00000005107
AA Change: S92P
| 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: S77P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122723
Gene: ENSMUSG00000005107
AA Change: S77P
| 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: ENSMUST00000143758
AA Change: S92P
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118430
Gene: ENSMUSG00000005107
AA Change: S92P
| 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: ENSMUST00000147664
AA Change: S77P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119586
Gene: ENSMUSG00000005107
AA Change: S77P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
25 |
143 |
9.8e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155634
AA Change: S77P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116354
Gene: ENSMUSG00000005107
AA Change: S77P
| 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: ENSMUST00000156272
AA Change: S92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144374
Gene: ENSMUSG00000005107
AA Change: S92P
| 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 |
0.9151 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (60/60) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,629,628 (GRCm39) |
N230K |
possibly damaging |
Het |
| 4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
| Albfm1 |
A |
G |
5: 90,729,777 (GRCm39) |
K400R |
probably benign |
Het |
| Amigo1 |
A |
G |
3: 108,095,086 (GRCm39) |
|
probably null |
Het |
| Arhgap30 |
A |
T |
1: 171,236,328 (GRCm39) |
T901S |
probably benign |
Het |
| Arpp21 |
T |
C |
9: 111,972,499 (GRCm39) |
D264G |
probably damaging |
Het |
| Ccbe1 |
C |
T |
18: 66,216,229 (GRCm39) |
G165S |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,816,585 (GRCm39) |
D1786G |
probably damaging |
Het |
| Cntn1 |
T |
C |
15: 92,237,430 (GRCm39) |
L1008P |
unknown |
Het |
| Dclk2 |
T |
A |
3: 86,712,985 (GRCm39) |
D489V |
probably damaging |
Het |
| Dip2b |
T |
A |
15: 100,052,177 (GRCm39) |
D259E |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,327,333 (GRCm39) |
S1184G |
possibly damaging |
Het |
| Dync1li2 |
C |
T |
8: 105,169,179 (GRCm39) |
W36* |
probably null |
Het |
| Ece2 |
A |
T |
16: 20,437,290 (GRCm39) |
M211L |
probably benign |
Het |
| Edn3 |
C |
T |
2: 174,603,345 (GRCm39) |
A31V |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,750,982 (GRCm39) |
Q266R |
possibly damaging |
Het |
| Fabp1 |
C |
A |
6: 71,176,944 (GRCm39) |
Q12K |
probably damaging |
Het |
| Flt1 |
G |
A |
5: 147,618,738 (GRCm39) |
T199M |
probably damaging |
Het |
| Galns |
T |
A |
8: 123,325,328 (GRCm39) |
I275F |
probably damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,618,488 (GRCm39) |
D295G |
probably benign |
Het |
| Gatb |
A |
G |
3: 85,511,751 (GRCm39) |
I169V |
probably benign |
Het |
| Gpd1 |
T |
A |
15: 99,618,011 (GRCm39) |
I109N |
probably damaging |
Het |
| Gps2 |
T |
C |
11: 69,807,121 (GRCm39) |
|
probably null |
Het |
| Hsd17b12 |
T |
C |
2: 93,913,608 (GRCm39) |
N99D |
probably benign |
Het |
| Itga3 |
A |
T |
11: 94,953,574 (GRCm39) |
V256E |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,513,253 (GRCm39) |
Y527F |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,384,488 (GRCm39) |
E3580D |
probably damaging |
Het |
| Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
| Medag |
A |
T |
5: 149,345,719 (GRCm39) |
|
probably benign |
Het |
| Ncdn |
C |
A |
4: 126,644,603 (GRCm39) |
R73L |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,170,034 (GRCm39) |
V339A |
probably benign |
Het |
| Ocln |
G |
T |
13: 100,642,822 (GRCm39) |
P420Q |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,270 (GRCm39) |
S265T |
probably benign |
Het |
| Pank4 |
C |
T |
4: 155,064,185 (GRCm39) |
T681I |
probably benign |
Het |
| Pcdhb6 |
T |
A |
18: 37,467,388 (GRCm39) |
V103E |
possibly damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,675,036 (GRCm39) |
F469S |
probably benign |
Het |
| Phrf1 |
A |
G |
7: 140,841,214 (GRCm39) |
N1353S |
possibly damaging |
Het |
| Pou6f2 |
A |
G |
13: 18,326,586 (GRCm39) |
I72T |
probably damaging |
Het |
| Ppig |
T |
C |
2: 69,563,127 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,600,919 (GRCm39) |
S153G |
probably benign |
Het |
| Rab11b |
T |
C |
17: 33,967,924 (GRCm39) |
N91S |
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Slit3 |
G |
A |
11: 35,575,002 (GRCm39) |
|
probably null |
Het |
| Sox5 |
T |
C |
6: 143,906,616 (GRCm39) |
I280V |
possibly damaging |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 112,029,909 (GRCm39) |
|
probably benign |
Het |
| Tmem273 |
T |
A |
14: 32,538,793 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
A |
T |
15: 43,730,640 (GRCm39) |
N134K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Txnl1 |
T |
G |
18: 63,812,538 (GRCm39) |
K85N |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,451,341 (GRCm39) |
M409K |
probably damaging |
Het |
| Wipf1 |
T |
C |
2: 73,274,812 (GRCm39) |
D53G |
probably damaging |
Het |
| Wnt10a |
G |
A |
1: 74,832,754 (GRCm39) |
V116I |
probably benign |
Het |
| Xpot |
T |
A |
10: 121,455,043 (GRCm39) |
D33V |
probably damaging |
Het |
| Znrf3 |
C |
T |
11: 5,231,519 (GRCm39) |
V665M |
possibly 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 |
|
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 |
|
R9167:Slc2a9
|
UTSW |
5 |
38,549,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATGCAGTGAAGTCTTTCCAG -3'
(R):5'- GGTGTCAAACATGCCAAGAG -3'
Sequencing Primer
(F):5'- CCAGTTAAACTGTATGAGCTCCTG -3'
(R):5'- ATGCCAAGAGTGCCCTGTACAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation