Incidental Mutation 'IGL03185:Slc5a11'
ID |
412438 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc5a11
|
Ensembl Gene |
ENSMUSG00000030769 |
Gene Name |
solute carrier family 5 (sodium/glucose cotransporter), member 11 |
Synonyms |
2010013B02Rik, Kst1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL03185
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
122814003-122872476 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122864412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 336
(D336G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121459
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033035]
[ENSMUST00000131933]
[ENSMUST00000167299]
|
AlphaFold |
Q8K0E3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033035
AA Change: D336G
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000033035 Gene: ENSMUSG00000030769 AA Change: D336G
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
Pfam:SSF
|
58 |
487 |
2.2e-143 |
PFAM |
transmembrane domain
|
521 |
543 |
N/A |
INTRINSIC |
transmembrane domain
|
653 |
672 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131933
AA Change: D336G
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000121459 Gene: ENSMUSG00000030769 AA Change: D336G
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
Pfam:SSF
|
58 |
402 |
1.2e-111 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167299
AA Change: D336G
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000127977 Gene: ENSMUSG00000030769 AA Change: D336G
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
Pfam:SSF
|
58 |
487 |
2.2e-143 |
PFAM |
transmembrane domain
|
521 |
543 |
N/A |
INTRINSIC |
transmembrane domain
|
653 |
672 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206180
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
T |
C |
3: 89,255,212 (GRCm39) |
D77G |
probably benign |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Babam2 |
T |
C |
5: 31,859,376 (GRCm39) |
I27T |
possibly damaging |
Het |
Ccdc150 |
A |
G |
1: 54,339,482 (GRCm39) |
E442G |
probably damaging |
Het |
Ccdc92 |
A |
G |
5: 124,913,014 (GRCm39) |
Y172H |
probably damaging |
Het |
Chl1 |
T |
A |
6: 103,642,824 (GRCm39) |
D187E |
probably damaging |
Het |
Col6a4 |
A |
T |
9: 105,896,653 (GRCm39) |
F1721I |
probably damaging |
Het |
Corin |
C |
T |
5: 72,490,124 (GRCm39) |
G542D |
probably damaging |
Het |
Dennd1c |
C |
T |
17: 57,373,803 (GRCm39) |
D587N |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,894,707 (GRCm39) |
Y3424C |
probably damaging |
Het |
Echdc1 |
T |
A |
10: 29,207,836 (GRCm39) |
F127I |
possibly damaging |
Het |
F13b |
T |
A |
1: 139,444,124 (GRCm39) |
V486E |
probably benign |
Het |
Fkbp15 |
C |
T |
4: 62,250,423 (GRCm39) |
|
probably null |
Het |
Glt8d2 |
T |
A |
10: 82,498,110 (GRCm39) |
I100F |
probably damaging |
Het |
Gmip |
C |
T |
8: 70,262,433 (GRCm39) |
P10L |
probably benign |
Het |
Grm7 |
T |
C |
6: 110,623,183 (GRCm39) |
S119P |
possibly damaging |
Het |
Klf4 |
T |
C |
4: 55,530,911 (GRCm39) |
T58A |
possibly damaging |
Het |
Mink1 |
T |
C |
11: 70,494,686 (GRCm39) |
I289T |
probably damaging |
Het |
Mptx2 |
A |
T |
1: 173,102,356 (GRCm39) |
V111D |
possibly damaging |
Het |
Muc5b |
A |
T |
7: 141,416,559 (GRCm39) |
E3168D |
possibly damaging |
Het |
Mylk3 |
C |
A |
8: 86,053,833 (GRCm39) |
V695F |
probably damaging |
Het |
Or11j4 |
C |
A |
14: 50,630,855 (GRCm39) |
T214K |
probably damaging |
Het |
Or7g21 |
T |
A |
9: 19,033,034 (GRCm39) |
V258E |
probably damaging |
Het |
Pcare |
A |
T |
17: 72,056,332 (GRCm39) |
I1115K |
probably damaging |
Het |
Pira13 |
A |
G |
7: 3,826,229 (GRCm39) |
Y255H |
probably damaging |
Het |
Poglut2 |
G |
A |
1: 44,156,359 (GRCm39) |
S76L |
probably benign |
Het |
Pprc1 |
C |
A |
19: 46,058,186 (GRCm39) |
|
probably benign |
Het |
Prkaa2 |
C |
T |
4: 104,896,918 (GRCm39) |
|
probably null |
Het |
Prss50 |
A |
G |
9: 110,687,279 (GRCm39) |
Y74C |
probably benign |
Het |
Rnf145 |
T |
C |
11: 44,422,157 (GRCm39) |
L80P |
probably damaging |
Het |
Serpinb3b |
T |
C |
1: 107,084,662 (GRCm39) |
I120V |
probably benign |
Het |
Sgca |
T |
C |
11: 94,861,610 (GRCm39) |
M212V |
probably benign |
Het |
Slc1a6 |
T |
A |
10: 78,637,741 (GRCm39) |
D422E |
probably damaging |
Het |
Slc30a9 |
A |
G |
5: 67,490,406 (GRCm39) |
R226G |
probably benign |
Het |
Slfn8 |
T |
C |
11: 82,908,333 (GRCm39) |
H70R |
probably benign |
Het |
Stoml2 |
T |
C |
4: 43,029,065 (GRCm39) |
N269S |
probably benign |
Het |
Synrg |
A |
G |
11: 83,872,305 (GRCm39) |
E142G |
probably damaging |
Het |
Thbs2 |
G |
A |
17: 14,901,672 (GRCm39) |
Q436* |
probably null |
Het |
Tyk2 |
T |
C |
9: 21,020,680 (GRCm39) |
N917S |
probably damaging |
Het |
Zfhx4 |
C |
A |
3: 5,468,974 (GRCm39) |
T3069K |
probably benign |
Het |
Zfp446 |
G |
T |
7: 12,712,925 (GRCm39) |
V88F |
probably null |
Het |
Zp3 |
A |
G |
5: 136,011,575 (GRCm39) |
N131S |
possibly damaging |
Het |
|
Other mutations in Slc5a11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00715:Slc5a11
|
APN |
7 |
122,849,397 (GRCm39) |
missense |
probably null |
0.72 |
IGL01670:Slc5a11
|
APN |
7 |
122,869,172 (GRCm39) |
missense |
probably benign |
|
IGL01960:Slc5a11
|
APN |
7 |
122,869,163 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02512:Slc5a11
|
APN |
7 |
122,864,478 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02637:Slc5a11
|
APN |
7 |
122,859,728 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02680:Slc5a11
|
APN |
7 |
122,864,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R0454:Slc5a11
|
UTSW |
7 |
122,864,458 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0894:Slc5a11
|
UTSW |
7 |
122,857,643 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1501:Slc5a11
|
UTSW |
7 |
122,859,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R1879:Slc5a11
|
UTSW |
7 |
122,838,671 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2185:Slc5a11
|
UTSW |
7 |
122,872,421 (GRCm39) |
missense |
probably damaging |
0.96 |
R2880:Slc5a11
|
UTSW |
7 |
122,838,595 (GRCm39) |
frame shift |
probably null |
|
R2882:Slc5a11
|
UTSW |
7 |
122,838,595 (GRCm39) |
frame shift |
probably null |
|
R2919:Slc5a11
|
UTSW |
7 |
122,838,595 (GRCm39) |
frame shift |
probably null |
|
R3012:Slc5a11
|
UTSW |
7 |
122,838,595 (GRCm39) |
frame shift |
probably null |
|
R4307:Slc5a11
|
UTSW |
7 |
122,869,093 (GRCm39) |
missense |
probably benign |
0.01 |
R4405:Slc5a11
|
UTSW |
7 |
122,857,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Slc5a11
|
UTSW |
7 |
122,834,858 (GRCm39) |
missense |
probably benign |
0.05 |
R4511:Slc5a11
|
UTSW |
7 |
122,834,858 (GRCm39) |
missense |
probably benign |
0.05 |
R4599:Slc5a11
|
UTSW |
7 |
122,857,601 (GRCm39) |
missense |
probably benign |
0.00 |
R4660:Slc5a11
|
UTSW |
7 |
122,864,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R5822:Slc5a11
|
UTSW |
7 |
122,851,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R6641:Slc5a11
|
UTSW |
7 |
122,837,378 (GRCm39) |
missense |
probably benign |
0.01 |
R6694:Slc5a11
|
UTSW |
7 |
122,867,012 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7078:Slc5a11
|
UTSW |
7 |
122,857,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R7580:Slc5a11
|
UTSW |
7 |
122,864,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R8088:Slc5a11
|
UTSW |
7 |
122,864,951 (GRCm39) |
missense |
probably benign |
0.14 |
R8139:Slc5a11
|
UTSW |
7 |
122,869,199 (GRCm39) |
missense |
probably benign |
0.00 |
R8302:Slc5a11
|
UTSW |
7 |
122,847,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R8680:Slc5a11
|
UTSW |
7 |
122,866,975 (GRCm39) |
missense |
probably benign |
0.19 |
R9156:Slc5a11
|
UTSW |
7 |
122,864,492 (GRCm39) |
nonsense |
probably null |
|
R9358:Slc5a11
|
UTSW |
7 |
122,857,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R9364:Slc5a11
|
UTSW |
7 |
122,868,324 (GRCm39) |
missense |
probably damaging |
0.96 |
R9370:Slc5a11
|
UTSW |
7 |
122,834,855 (GRCm39) |
missense |
probably benign |
|
Z1177:Slc5a11
|
UTSW |
7 |
122,838,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |