Incidental Mutation 'R4423:Slc5a1'
| ID |
327196 |
| 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 |
041143-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R4423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
33261563-33320043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33312018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 470
(V470A)
|
| 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: V470A
PolyPhen 2
Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: V470A
| 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 |
|
| Meta Mutation Damage Score |
0.3240 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (57/57) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
C |
A |
10: 100,441,495 (GRCm39) |
P100Q |
probably damaging |
Het |
| A630010A05Rik |
A |
G |
16: 14,436,577 (GRCm39) |
Y210C |
probably benign |
Het |
| Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
| Arhgef9 |
T |
G |
X: 94,144,670 (GRCm39) |
I131L |
possibly damaging |
Het |
| Asgr2 |
G |
A |
11: 69,996,211 (GRCm39) |
V218I |
probably benign |
Het |
| Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
| Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
| Cfap144 |
A |
T |
11: 58,687,357 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
T |
A |
9: 114,446,988 (GRCm39) |
I363F |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,644,932 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
C |
T |
14: 31,006,718 (GRCm39) |
G2199D |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,799,465 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,227,474 (GRCm39) |
I1689T |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,269,547 (GRCm39) |
F762S |
probably benign |
Het |
| Eif2b5 |
A |
G |
16: 20,320,469 (GRCm39) |
D195G |
probably benign |
Het |
| Elmo1 |
C |
G |
13: 20,784,382 (GRCm39) |
Y646* |
probably null |
Het |
| Far1 |
T |
A |
7: 113,139,805 (GRCm39) |
S84R |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
| Galnt15 |
A |
T |
14: 31,780,226 (GRCm39) |
I508F |
possibly damaging |
Het |
| Grik1 |
T |
C |
16: 87,720,088 (GRCm39) |
T745A |
probably benign |
Het |
| Hira |
A |
G |
16: 18,774,952 (GRCm39) |
D959G |
possibly damaging |
Het |
| Hsf5 |
T |
C |
11: 87,522,460 (GRCm39) |
L351P |
probably damaging |
Het |
| Icosl |
C |
T |
10: 77,907,707 (GRCm39) |
T89I |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,216,503 (GRCm39) |
N414K |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,298,562 (GRCm39) |
S1035P |
probably damaging |
Het |
| Lcp2 |
G |
T |
11: 34,028,226 (GRCm39) |
|
probably benign |
Het |
| Map4 |
C |
T |
9: 109,896,662 (GRCm39) |
T631I |
probably damaging |
Het |
| Nepn |
T |
A |
10: 52,267,911 (GRCm39) |
I59N |
probably damaging |
Het |
| Nin |
T |
A |
12: 70,089,752 (GRCm39) |
K1221M |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,150,948 (GRCm39) |
T333A |
probably damaging |
Het |
| Or10d4c |
A |
G |
9: 39,558,412 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,552 (GRCm39) |
V142A |
probably benign |
Het |
| Or8b43 |
A |
G |
9: 38,360,662 (GRCm39) |
T165A |
probably benign |
Het |
| Plod2 |
T |
C |
9: 92,484,042 (GRCm39) |
L502S |
probably benign |
Het |
| Pnpt1 |
A |
G |
11: 29,103,375 (GRCm39) |
|
probably null |
Het |
| Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
| Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
| Prkcq |
T |
C |
2: 11,260,980 (GRCm39) |
I344T |
possibly damaging |
Het |
| Rbl1 |
A |
G |
2: 157,010,875 (GRCm39) |
|
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Sec62 |
T |
C |
3: 30,868,431 (GRCm39) |
M220T |
unknown |
Het |
| Shprh |
T |
G |
10: 11,062,262 (GRCm39) |
V1219G |
possibly damaging |
Het |
| Slc25a46 |
T |
C |
18: 31,742,651 (GRCm39) |
T72A |
probably benign |
Het |
| Slc4a2 |
G |
A |
5: 24,644,846 (GRCm39) |
W1040* |
probably null |
Het |
| Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Tex47 |
G |
T |
5: 7,355,364 (GRCm39) |
A182S |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,892,231 (GRCm39) |
I1077T |
probably benign |
Het |
| Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
| Trpm2 |
T |
C |
10: 77,770,902 (GRCm39) |
D678G |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,969,863 (GRCm39) |
K11E |
probably damaging |
Het |
| Ube3a |
T |
C |
7: 58,925,861 (GRCm39) |
I234T |
probably benign |
Het |
| Vmn2r57 |
T |
C |
7: 41,076,064 (GRCm39) |
K483E |
probably damaging |
Het |
| Wnk1 |
T |
A |
6: 119,903,387 (GRCm39) |
S2111C |
probably damaging |
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 |
|
R4465:Slc5a1
|
UTSW |
5 |
33,303,860 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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'- GGAAGCCTCAAGAATGAATCTG -3'
(R):5'- ATGATTCCTTGAGGCGTACCC -3'
Sequencing Primer
(F):5'- ACATATGCGTGTGACATCTGC -3'
(R):5'- TTGAGGCGTACCCACCTAAAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation