Incidental Mutation 'R2185:Slc5a11'
ID |
237826 |
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 |
040187-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R2185 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
122814003-122872476 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 122872421 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 673
(A673S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033035]
[ENSMUST00000167299]
|
AlphaFold |
Q8K0E3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033035
AA Change: A673S
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000033035 Gene: ENSMUSG00000030769 AA Change: A673S
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 damaging
Transcript: ENSMUST00000167299
AA Change: A673S
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127977 Gene: ENSMUSG00000030769 AA Change: A673S
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 |
|
Meta Mutation Damage Score |
0.1276 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (48/48) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
C |
5: 138,561,829 (GRCm39) |
D119G |
probably damaging |
Het |
Abca1 |
A |
G |
4: 53,089,830 (GRCm39) |
M427T |
probably benign |
Het |
Ankra2 |
T |
C |
13: 98,402,912 (GRCm39) |
F53S |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,605,390 (GRCm39) |
E272G |
probably benign |
Het |
Aqr |
C |
T |
2: 113,961,015 (GRCm39) |
|
probably null |
Het |
Ccdc168 |
G |
A |
1: 44,100,541 (GRCm39) |
H186Y |
probably benign |
Het |
Cibar1 |
A |
T |
4: 12,169,041 (GRCm39) |
|
probably benign |
Het |
Clca4b |
T |
C |
3: 144,634,317 (GRCm39) |
Y92C |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,902,002 (GRCm39) |
N2374K |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,794,256 (GRCm39) |
I664L |
probably benign |
Het |
Ctnnd1 |
A |
T |
2: 84,442,892 (GRCm39) |
D626E |
probably damaging |
Het |
Dnai3 |
A |
G |
3: 145,772,619 (GRCm39) |
S476P |
possibly damaging |
Het |
Eml2 |
A |
G |
7: 18,927,953 (GRCm39) |
Y254C |
probably damaging |
Het |
Gabrr3 |
T |
C |
16: 59,255,031 (GRCm39) |
S239P |
probably damaging |
Het |
Gen1 |
T |
C |
12: 11,311,041 (GRCm39) |
T64A |
probably null |
Het |
Gm14399 |
C |
A |
2: 174,973,188 (GRCm39) |
C189F |
probably damaging |
Het |
Gm9476 |
T |
G |
10: 100,143,040 (GRCm39) |
|
noncoding transcript |
Het |
Kcnh5 |
A |
T |
12: 75,177,705 (GRCm39) |
F134I |
possibly damaging |
Het |
Kdm4b |
G |
C |
17: 56,700,750 (GRCm39) |
A474P |
probably benign |
Het |
Kif2b |
TTCTCTCTCT |
TTCTCTCT |
11: 91,467,797 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrrc28 |
C |
T |
7: 67,195,201 (GRCm39) |
R203Q |
possibly damaging |
Het |
Lrrc8e |
G |
T |
8: 4,284,986 (GRCm39) |
E404* |
probably null |
Het |
Macf1 |
A |
T |
4: 123,369,349 (GRCm39) |
M239K |
probably damaging |
Het |
Mamdc4 |
A |
G |
2: 25,459,704 (GRCm39) |
|
probably null |
Het |
Matr3 |
A |
G |
18: 35,714,278 (GRCm39) |
Y75C |
probably damaging |
Het |
Myo19 |
T |
C |
11: 84,783,047 (GRCm39) |
V187A |
probably benign |
Het |
Ncbp2 |
A |
G |
16: 31,775,195 (GRCm39) |
D116G |
probably damaging |
Het |
Or1d2 |
A |
T |
11: 74,255,572 (GRCm39) |
I26F |
probably benign |
Het |
Or4p8 |
A |
C |
2: 88,727,047 (GRCm39) |
V298G |
probably damaging |
Het |
Or56a3 |
T |
A |
7: 104,735,509 (GRCm39) |
D195E |
possibly damaging |
Het |
Or9g3 |
T |
C |
2: 85,590,363 (GRCm39) |
Y119C |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,359,827 (GRCm39) |
M894K |
possibly damaging |
Het |
Prpf8 |
C |
T |
11: 75,377,939 (GRCm39) |
R8* |
probably null |
Het |
Prss12 |
T |
A |
3: 123,280,793 (GRCm39) |
S493T |
probably benign |
Het |
Ptov1 |
T |
G |
7: 44,516,707 (GRCm39) |
|
probably benign |
Het |
Rfpl4 |
A |
T |
7: 5,118,499 (GRCm39) |
L24M |
probably damaging |
Het |
Rundc1 |
C |
A |
11: 101,316,157 (GRCm39) |
D76E |
probably benign |
Het |
Smg5 |
T |
C |
3: 88,258,868 (GRCm39) |
M613T |
probably benign |
Het |
Swt1 |
T |
A |
1: 151,260,219 (GRCm39) |
H677L |
probably damaging |
Het |
Tas2r107 |
T |
C |
6: 131,636,566 (GRCm39) |
N161S |
probably damaging |
Het |
Trp73 |
A |
T |
4: 154,189,274 (GRCm39) |
|
probably null |
Het |
Tsr1 |
A |
G |
11: 74,792,906 (GRCm39) |
I405V |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,718,988 (GRCm39) |
T280A |
possibly damaging |
Het |
Ube2q2 |
A |
G |
9: 55,102,366 (GRCm39) |
|
probably null |
Het |
Usp5 |
T |
C |
6: 124,794,373 (GRCm39) |
E769G |
probably damaging |
Het |
Vmn2r68 |
T |
A |
7: 84,882,901 (GRCm39) |
K284* |
probably null |
Het |
Zfp963 |
C |
A |
8: 70,195,561 (GRCm39) |
K297N |
probably benign |
Het |
Zfp975 |
C |
A |
7: 42,311,105 (GRCm39) |
A503S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCAAGGTGGTGAGGGCTATC -3'
(R):5'- GCCCCTGATTTTCACAGTGG -3'
Sequencing Primer
(F):5'- AGGGCTATCCTGTGGCTC -3'
(R):5'- CCTGATTTTCACAGTGGGAGCG -3'
|
Posted On |
2014-10-02 |