Incidental Mutation 'IGL00715:Slc5a11'
| ID |
14110 |
| 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: 0.085)
|
| Stock # |
IGL00715
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
122814003-122872476 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 122849397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 194
(A194V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033035]
[ENSMUST00000127655]
[ENSMUST00000131933]
[ENSMUST00000167299]
|
| AlphaFold |
Q8K0E3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033035
AA Change: A194V
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000033035
Gene: ENSMUSG00000030769
AA Change: A194V
| 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 |
probably benign
Transcript: ENSMUST00000127655
|
| SMART Domains |
Protein: ENSMUSP00000117956
Gene: ENSMUSG00000030769
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
58 |
152 |
2.4e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131209
|
| SMART Domains |
Protein: ENSMUSP00000120678
Gene: ENSMUSG00000030769
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
7 |
72 |
8.5e-18 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131933
AA Change: A194V
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121459
Gene: ENSMUSG00000030769
AA Change: A194V
| 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 null
Transcript: ENSMUST00000167299
AA Change: A194V
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127977
Gene: ENSMUSG00000030769
AA Change: A194V
| 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 |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
C |
T |
1: 125,322,813 (GRCm39) |
A385T |
probably damaging |
Het |
| Cdh17 |
A |
T |
4: 11,797,780 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
C |
T |
11: 101,074,031 (GRCm39) |
|
probably benign |
Het |
| Dhrs7 |
T |
A |
12: 72,699,164 (GRCm39) |
M296L |
probably damaging |
Het |
| Fmo2 |
T |
A |
1: 162,716,282 (GRCm39) |
K102* |
probably null |
Het |
| Foxn3 |
T |
C |
12: 99,162,866 (GRCm39) |
E345G |
possibly damaging |
Het |
| Gabrg1 |
A |
G |
5: 70,973,298 (GRCm39) |
|
probably null |
Het |
| Gp1ba |
A |
C |
11: 70,530,744 (GRCm39) |
|
probably benign |
Het |
| Grwd1 |
A |
G |
7: 45,480,037 (GRCm39) |
Y57H |
probably damaging |
Het |
| Hars2 |
G |
A |
18: 36,918,989 (GRCm39) |
C83Y |
probably damaging |
Het |
| Il5ra |
C |
T |
6: 106,689,435 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,302,603 (GRCm39) |
V87A |
probably benign |
Het |
| Lrig2 |
A |
G |
3: 104,371,264 (GRCm39) |
V455A |
probably damaging |
Het |
| P2ry10 |
T |
A |
X: 106,146,189 (GRCm39) |
S41R |
probably damaging |
Het |
| Plcb2 |
C |
T |
2: 118,544,215 (GRCm39) |
|
probably null |
Het |
| Plod2 |
G |
A |
9: 92,480,667 (GRCm39) |
R420H |
probably damaging |
Het |
| Prkcd |
T |
C |
14: 30,317,960 (GRCm39) |
N656S |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,115,495 (GRCm39) |
F42S |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,841,457 (GRCm39) |
I786T |
probably damaging |
Het |
| Spo11 |
T |
C |
2: 172,830,825 (GRCm39) |
|
probably null |
Het |
| Trap1a |
A |
G |
X: 138,234,983 (GRCm39) |
D94G |
unknown |
Het |
| Urb1 |
A |
G |
16: 90,550,209 (GRCm39) |
|
probably null |
Het |
| Usp1 |
T |
C |
4: 98,822,818 (GRCm39) |
|
probably null |
Het |
| Zfp300 |
T |
C |
X: 20,950,493 (GRCm39) |
D34G |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,494,137 (GRCm39) |
E302G |
possibly damaging |
Het |
|
| Other mutations in Slc5a11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03185:Slc5a11
|
APN |
7 |
122,864,412 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
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 |
2012-12-06 |
Incidental Mutation