Incidental Mutation 'R4307:Slc5a11'
| ID |
324059 |
| 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 |
041658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4307 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
122814003-122872476 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122869093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 560
(H560Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033035]
[ENSMUST00000131933]
[ENSMUST00000167299]
|
| AlphaFold |
Q8K0E3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033035
AA Change: H560Q
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000033035
Gene: ENSMUSG00000030769
AA Change: H560Q
| 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: 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 benign
Transcript: ENSMUST00000167299
AA Change: H560Q
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000127977
Gene: ENSMUSG00000030769
AA Change: H560Q
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (33/33) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500009L16Rik |
A |
C |
10: 83,573,792 (GRCm39) |
K22N |
probably damaging |
Het |
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,925,111 (GRCm39) |
L238P |
possibly damaging |
Het |
| Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,531,649 (GRCm39) |
Y430N |
possibly damaging |
Het |
| Egf |
T |
A |
3: 129,512,744 (GRCm39) |
Y473F |
probably damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,237 (GRCm39) |
E504G |
probably damaging |
Het |
| Fcsk |
G |
A |
8: 111,618,712 (GRCm39) |
Q349* |
probably null |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gm20939 |
A |
T |
17: 95,184,162 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Gpbp1 |
T |
C |
13: 111,585,517 (GRCm39) |
*68W |
probably null |
Het |
| Gpm6a |
T |
C |
8: 55,500,428 (GRCm39) |
|
probably null |
Het |
| Inpp5a |
T |
C |
7: 139,154,879 (GRCm39) |
S333P |
possibly damaging |
Het |
| Itgb5 |
T |
G |
16: 33,769,102 (GRCm39) |
Y481D |
possibly damaging |
Het |
| Kif27 |
C |
T |
13: 58,491,937 (GRCm39) |
V401I |
probably benign |
Het |
| Lca5l |
C |
T |
16: 95,960,756 (GRCm39) |
|
probably benign |
Het |
| Mrtfa |
G |
A |
15: 80,900,548 (GRCm39) |
L648F |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,140,444 (GRCm39) |
V1648A |
probably damaging |
Het |
| Polk |
C |
T |
13: 96,633,174 (GRCm39) |
E290K |
possibly damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,506,099 (GRCm39) |
S1597T |
possibly damaging |
Het |
| Top3b |
T |
C |
16: 16,707,481 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,600,649 (GRCm39) |
N1365S |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,423 (GRCm39) |
V403E |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,493,707 (GRCm39) |
F80I |
probably 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 |
|
|
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 |
|
|
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'- GTTCTGAGGAATCGGGGAAC -3'
(R):5'- AGATTGCGATCTGGCAGAATCC -3'
Sequencing Primer
(F):5'- AACCGATGCTGCTTGGAG -3'
(R):5'- CCAGAACACACAATGCTTCTTAAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation