Incidental Mutation 'R2882:Slc5a11'
| ID |
260346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a11
|
| Ensembl Gene |
ENSMUSG00000030769 |
| Gene Name |
solute carrier family 5 (sodium/glucose cotransporter), member 11 |
| Synonyms |
2010013B02Rik, Kst1 |
| MMRRC Submission |
040470-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R2882 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
122814003-122872476 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GGTGC to G
at 122838595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033035]
[ENSMUST00000127655]
[ENSMUST00000131461]
[ENSMUST00000131933]
[ENSMUST00000167299]
|
| AlphaFold |
Q8K0E3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033035
|
| SMART Domains |
Protein: ENSMUSP00000033035
Gene: ENSMUSG00000030769
| 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 null
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: ENSMUST00000131461
|
| SMART Domains |
Protein: ENSMUSP00000123027
Gene: ENSMUSG00000030769
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131933
|
| SMART Domains |
Protein: ENSMUSP00000121459
Gene: ENSMUSG00000030769
| 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
|
| SMART Domains |
Protein: ENSMUSP00000127977
Gene: ENSMUSG00000030769
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,548,134 (GRCm39) |
Y7C |
probably damaging |
Het |
| Atxn3 |
C |
A |
12: 101,903,670 (GRCm39) |
L178F |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,410,038 (GRCm39) |
S211P |
possibly damaging |
Het |
| Csl |
A |
G |
10: 99,594,787 (GRCm39) |
F93L |
probably damaging |
Het |
| Cyp4f40 |
A |
G |
17: 32,887,047 (GRCm39) |
I173V |
probably benign |
Het |
| Dcaf17 |
A |
G |
2: 70,912,371 (GRCm39) |
I319V |
possibly damaging |
Het |
| Dock5 |
T |
C |
14: 68,077,069 (GRCm39) |
Y258C |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,372,932 (GRCm39) |
E236G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,858,679 (GRCm39) |
D631G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,202,131 (GRCm39) |
L314F |
probably damaging |
Het |
| Gsdmc |
T |
C |
15: 63,651,644 (GRCm39) |
I259V |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,293,555 (GRCm39) |
L3501F |
possibly damaging |
Het |
| Kdm2a |
A |
G |
19: 4,381,212 (GRCm39) |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,354,826 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Minar1 |
C |
T |
9: 89,484,855 (GRCm39) |
V181I |
possibly damaging |
Het |
| Mlh3 |
A |
T |
12: 85,314,340 (GRCm39) |
H615Q |
probably damaging |
Het |
| Mmp12 |
A |
G |
9: 7,358,236 (GRCm39) |
Y374C |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,459 (GRCm39) |
E97G |
probably benign |
Het |
| Oasl2 |
C |
T |
5: 115,049,084 (GRCm39) |
R175C |
probably damaging |
Het |
| Or1j19 |
A |
T |
2: 36,677,202 (GRCm39) |
I222F |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,865 (GRCm39) |
Q615L |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,777,239 (GRCm39) |
Y502N |
probably damaging |
Het |
| Spata31d1e |
C |
A |
13: 59,890,757 (GRCm39) |
Q354H |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,979,359 (GRCm39) |
V163A |
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,458 (GRCm39) |
T240M |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,415,365 (GRCm39) |
I785T |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCAGACACTTTCTCAAG -3'
(R):5'- GAAGCCTCCTGTTTGCTTAACG -3'
Sequencing Primer
(F):5'- GCAGACACTTTCTCAAGTTGTG -3'
(R):5'- GCCTCCTGTTTGCTTAACGAAAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation