Incidental Mutation 'R4465:Slc5a1'
| ID |
330299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a1
|
| Ensembl Gene |
ENSMUSG00000011034 |
| Gene Name |
solute carrier family 5 (sodium/glucose cotransporter), member 1 |
| Synonyms |
sodium glucose cotransporter 1, Sglt1 |
| MMRRC Submission |
041580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R4465 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
33261563-33320043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33303860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 225
(E225G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011178]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000011178
AA Change: E225G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: E225G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
58 |
492 |
2.6e-174 |
PFAM |
|
transmembrane domain
|
526 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
634 |
N/A |
INTRINSIC |
|
transmembrane domain
|
641 |
663 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202802
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| 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 sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Acsbg2 |
A |
G |
17: 57,168,580 (GRCm39) |
Y180H |
probably damaging |
Het |
| Adgrb3 |
G |
T |
1: 25,133,447 (GRCm39) |
T1213K |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,802,388 (GRCm39) |
T510A |
probably benign |
Het |
| Clasp1 |
C |
A |
1: 118,488,808 (GRCm39) |
T857N |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,580,192 (GRCm39) |
V1562F |
possibly damaging |
Het |
| Cyp4f40 |
T |
A |
17: 32,890,186 (GRCm39) |
D285E |
probably benign |
Het |
| Dis3 |
G |
A |
14: 99,321,550 (GRCm39) |
S599L |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,951,186 (GRCm39) |
T3041A |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,981,393 (GRCm39) |
N511D |
probably benign |
Het |
| F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
| Gm11541 |
A |
T |
11: 94,595,048 (GRCm39) |
C7S |
unknown |
Het |
| Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
| Lao1 |
C |
A |
4: 118,822,504 (GRCm39) |
S141R |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,632,023 (GRCm39) |
K1316E |
probably damaging |
Het |
| Map3k6 |
A |
G |
4: 132,973,644 (GRCm39) |
Y445C |
possibly damaging |
Het |
| Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
| Ndnf |
T |
A |
6: 65,681,180 (GRCm39) |
D486E |
probably benign |
Het |
| Or2a54 |
T |
C |
6: 43,092,852 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or8h7 |
A |
T |
2: 86,721,494 (GRCm39) |
N8K |
probably benign |
Het |
| Or8k37 |
A |
T |
2: 86,469,478 (GRCm39) |
N191K |
probably benign |
Het |
| Rab19 |
T |
C |
6: 39,365,060 (GRCm39) |
S107P |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,140,088 (GRCm39) |
L439* |
probably null |
Het |
| Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
| Snx25 |
A |
G |
8: 46,521,266 (GRCm39) |
S373P |
possibly damaging |
Het |
| Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Homo |
| Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Zdhhc22 |
G |
A |
12: 87,034,997 (GRCm39) |
L152F |
probably benign |
Het |
| Zfpm2 |
T |
G |
15: 40,959,557 (GRCm39) |
M80R |
probably benign |
Het |
|
| Other mutations in Slc5a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01573:Slc5a1
|
APN |
5 |
33,318,209 (GRCm39) |
missense |
probably benign |
|
|
IGL01872:Slc5a1
|
APN |
5 |
33,311,981 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01906:Slc5a1
|
APN |
5 |
33,311,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02614:Slc5a1
|
APN |
5 |
33,311,945 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03241:Slc5a1
|
APN |
5 |
33,290,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03336:Slc5a1
|
APN |
5 |
33,304,287 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0314:Slc5a1
|
UTSW |
5 |
33,303,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0421:Slc5a1
|
UTSW |
5 |
33,291,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0755:Slc5a1
|
UTSW |
5 |
33,290,733 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0791:Slc5a1
|
UTSW |
5 |
33,315,421 (GRCm39) |
splice site |
probably benign |
|
|
R1506:Slc5a1
|
UTSW |
5 |
33,312,052 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1801:Slc5a1
|
UTSW |
5 |
33,304,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Slc5a1
|
UTSW |
5 |
33,318,140 (GRCm39) |
missense |
probably benign |
|
|
R2190:Slc5a1
|
UTSW |
5 |
33,261,937 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3796:Slc5a1
|
UTSW |
5 |
33,309,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4423:Slc5a1
|
UTSW |
5 |
33,312,018 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4588:Slc5a1
|
UTSW |
5 |
33,302,632 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4722:Slc5a1
|
UTSW |
5 |
33,304,055 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4826:Slc5a1
|
UTSW |
5 |
33,316,494 (GRCm39) |
missense |
probably benign |
|
|
R4934:Slc5a1
|
UTSW |
5 |
33,261,858 (GRCm39) |
missense |
probably benign |
|
|
R4955:Slc5a1
|
UTSW |
5 |
33,318,246 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4963:Slc5a1
|
UTSW |
5 |
33,318,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5008:Slc5a1
|
UTSW |
5 |
33,309,917 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5094:Slc5a1
|
UTSW |
5 |
33,315,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5292:Slc5a1
|
UTSW |
5 |
33,315,585 (GRCm39) |
missense |
probably benign |
|
|
R5654:Slc5a1
|
UTSW |
5 |
33,303,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6784:Slc5a1
|
UTSW |
5 |
33,315,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7585:Slc5a1
|
UTSW |
5 |
33,318,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7734:Slc5a1
|
UTSW |
5 |
33,318,279 (GRCm39) |
missense |
probably benign |
|
|
R7751:Slc5a1
|
UTSW |
5 |
33,290,761 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7827:Slc5a1
|
UTSW |
5 |
33,304,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8755:Slc5a1
|
UTSW |
5 |
33,316,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9433:Slc5a1
|
UTSW |
5 |
33,310,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF020:Slc5a1
|
UTSW |
5 |
33,290,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Slc5a1
|
UTSW |
5 |
33,291,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGGCACTTCCACAAGTC -3'
(R):5'- CTGATCCGTACACCAGTACC -3'
Sequencing Primer
(F):5'- GGGCACTTCCACAAGTCATTGC -3'
(R):5'- GTACACCAGTACCACAGGGCG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation