Incidental Mutation 'R6039:Slc5a8'
| ID |
486750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a8
|
| Ensembl Gene |
ENSMUSG00000020062 |
| Gene Name |
solute carrier family 5 (iodide transporter), member 8 |
| Synonyms |
SMCT |
| MMRRC Submission |
043259-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6039 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88721854-88765377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88722436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 90
(I90V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020255]
|
| AlphaFold |
Q8BYF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020255
AA Change: I90V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: I90V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
45 |
449 |
2.6e-38 |
PFAM |
|
low complexity region
|
462 |
478 |
N/A |
INTRINSIC |
|
transmembrane domain
|
519 |
541 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased lactate concentrations in the saliva and urine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
C |
T |
6: 92,885,527 (GRCm39) |
R416Q |
possibly damaging |
Het |
| Adgre1 |
C |
A |
17: 57,713,859 (GRCm39) |
D181E |
probably benign |
Het |
| Arhgap24 |
T |
C |
5: 103,028,652 (GRCm39) |
S183P |
probably damaging |
Het |
| Asb1 |
T |
C |
1: 91,474,748 (GRCm39) |
L90P |
probably damaging |
Het |
| Bmp3 |
T |
C |
5: 99,020,209 (GRCm39) |
F211L |
probably benign |
Het |
| C8a |
A |
G |
4: 104,703,139 (GRCm39) |
I306T |
probably benign |
Het |
| Cdkn3 |
G |
A |
14: 47,007,373 (GRCm39) |
G177R |
probably damaging |
Het |
| Chat |
A |
G |
14: 32,170,984 (GRCm39) |
S172P |
probably damaging |
Het |
| Chd5 |
CAAGAAGAAGAAGAAGAA |
CAAGAAGAAGAAGAA |
4: 152,438,078 (GRCm39) |
|
probably benign |
Het |
| Cyp4a12a |
T |
C |
4: 115,184,420 (GRCm39) |
I265T |
probably damaging |
Het |
| Dlst |
T |
A |
12: 85,165,664 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
A |
T |
9: 20,837,716 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
T |
2: 125,205,800 (GRCm39) |
E1066K |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fstl1 |
T |
A |
16: 37,641,538 (GRCm39) |
S105T |
probably benign |
Het |
| Gm19410 |
C |
G |
8: 36,276,518 (GRCm39) |
A1725G |
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,151,215 (GRCm39) |
N119S |
probably damaging |
Het |
| Il20 |
T |
A |
1: 130,838,478 (GRCm39) |
D73V |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,716,608 (GRCm39) |
I612T |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,359,105 (GRCm39) |
Y1107C |
probably benign |
Het |
| Klhl32 |
A |
G |
4: 24,792,615 (GRCm39) |
|
probably null |
Het |
| Krt77 |
C |
A |
15: 101,769,351 (GRCm39) |
R470L |
possibly damaging |
Het |
| Muc1 |
T |
C |
3: 89,139,336 (GRCm39) |
Y579H |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,966,132 (GRCm39) |
D396G |
probably damaging |
Het |
| Myom1 |
T |
G |
17: 71,417,746 (GRCm39) |
D1316E |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,912,538 (GRCm39) |
E1083G |
probably benign |
Het |
| Nek9 |
G |
A |
12: 85,359,859 (GRCm39) |
A531V |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,290,002 (GRCm39) |
I170N |
possibly damaging |
Het |
| Nup98 |
A |
G |
7: 101,784,002 (GRCm39) |
I1093T |
probably benign |
Het |
| Ovch2 |
G |
A |
7: 107,388,318 (GRCm39) |
L421F |
probably damaging |
Het |
| Paqr4 |
T |
C |
17: 23,958,968 (GRCm39) |
D11G |
probably damaging |
Het |
| Parp8 |
A |
G |
13: 117,014,134 (GRCm39) |
S561P |
probably damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,420,306 (GRCm39) |
F179L |
probably damaging |
Het |
| Pde4d |
A |
T |
13: 110,084,876 (GRCm39) |
Q422L |
probably damaging |
Het |
| Pigs |
T |
A |
11: 78,232,651 (GRCm39) |
V495E |
probably damaging |
Het |
| Polh |
C |
T |
17: 46,498,959 (GRCm39) |
R252H |
probably benign |
Het |
| Psg28 |
T |
C |
7: 18,160,107 (GRCm39) |
D363G |
possibly damaging |
Het |
| Ptgir |
A |
T |
7: 16,640,815 (GRCm39) |
I36F |
possibly damaging |
Het |
| Ptprr |
G |
A |
10: 116,072,668 (GRCm39) |
|
probably null |
Het |
| Rax |
C |
T |
18: 66,068,418 (GRCm39) |
G229D |
unknown |
Het |
| Secisbp2l |
T |
A |
2: 125,615,136 (GRCm39) |
H163L |
probably benign |
Het |
| Sf3a2 |
A |
G |
10: 80,637,297 (GRCm39) |
Y45C |
probably damaging |
Het |
| Sgo2a |
C |
T |
1: 58,055,775 (GRCm39) |
T653I |
possibly damaging |
Het |
| Slc38a9 |
A |
T |
13: 112,806,231 (GRCm39) |
I26F |
probably damaging |
Het |
| Slx4 |
G |
A |
16: 3,803,911 (GRCm39) |
H968Y |
possibly damaging |
Het |
| Stam2 |
T |
C |
2: 52,599,611 (GRCm39) |
T233A |
probably benign |
Het |
| Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
| Trav4-2 |
G |
A |
14: 53,655,866 (GRCm39) |
V8M |
possibly damaging |
Het |
| Ttll5 |
T |
A |
12: 85,878,729 (GRCm39) |
H45Q |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,714,762 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,051,217 (GRCm39) |
F234L |
possibly damaging |
Het |
| Vmn2r74 |
T |
A |
7: 85,607,526 (GRCm39) |
|
probably null |
Het |
| Wdr6 |
CTG |
C |
9: 108,450,994 (GRCm39) |
|
probably null |
Het |
| Zfp644 |
A |
G |
5: 106,783,291 (GRCm39) |
S997P |
possibly damaging |
Het |
| Zfp853 |
G |
A |
5: 143,274,529 (GRCm39) |
Q364* |
probably null |
Het |
|
| Other mutations in Slc5a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Slc5a8
|
APN |
10 |
88,743,902 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL00902:Slc5a8
|
APN |
10 |
88,755,323 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00960:Slc5a8
|
APN |
10 |
88,757,627 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01109:Slc5a8
|
APN |
10 |
88,742,254 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01365:Slc5a8
|
APN |
10 |
88,727,959 (GRCm39) |
splice site |
probably benign |
|
|
IGL01418:Slc5a8
|
APN |
10 |
88,740,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01823:Slc5a8
|
APN |
10 |
88,755,334 (GRCm39) |
nonsense |
probably null |
|
|
IGL02116:Slc5a8
|
APN |
10 |
88,755,362 (GRCm39) |
missense |
probably benign |
|
|
IGL03109:Slc5a8
|
APN |
10 |
88,742,278 (GRCm39) |
splice site |
probably benign |
|
|
PIT4585001:Slc5a8
|
UTSW |
10 |
88,722,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Slc5a8
|
UTSW |
10 |
88,722,452 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0418:Slc5a8
|
UTSW |
10 |
88,722,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1233:Slc5a8
|
UTSW |
10 |
88,754,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Slc5a8
|
UTSW |
10 |
88,761,648 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1769:Slc5a8
|
UTSW |
10 |
88,755,328 (GRCm39) |
nonsense |
probably null |
|
|
R1769:Slc5a8
|
UTSW |
10 |
88,755,326 (GRCm39) |
missense |
probably benign |
|
|
R2870:Slc5a8
|
UTSW |
10 |
88,740,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2870:Slc5a8
|
UTSW |
10 |
88,740,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2873:Slc5a8
|
UTSW |
10 |
88,740,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3883:Slc5a8
|
UTSW |
10 |
88,738,325 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4207:Slc5a8
|
UTSW |
10 |
88,747,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Slc5a8
|
UTSW |
10 |
88,761,649 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4880:Slc5a8
|
UTSW |
10 |
88,727,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4969:Slc5a8
|
UTSW |
10 |
88,740,774 (GRCm39) |
splice site |
probably null |
|
|
R4998:Slc5a8
|
UTSW |
10 |
88,743,919 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5009:Slc5a8
|
UTSW |
10 |
88,745,516 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5068:Slc5a8
|
UTSW |
10 |
88,722,460 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5069:Slc5a8
|
UTSW |
10 |
88,722,460 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5070:Slc5a8
|
UTSW |
10 |
88,722,460 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5130:Slc5a8
|
UTSW |
10 |
88,762,077 (GRCm39) |
missense |
probably benign |
|
|
R5141:Slc5a8
|
UTSW |
10 |
88,755,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5252:Slc5a8
|
UTSW |
10 |
88,742,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5659:Slc5a8
|
UTSW |
10 |
88,755,290 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5660:Slc5a8
|
UTSW |
10 |
88,755,290 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5661:Slc5a8
|
UTSW |
10 |
88,755,290 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6039:Slc5a8
|
UTSW |
10 |
88,722,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6378:Slc5a8
|
UTSW |
10 |
88,740,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Slc5a8
|
UTSW |
10 |
88,755,364 (GRCm39) |
missense |
probably benign |
|
|
R7255:Slc5a8
|
UTSW |
10 |
88,745,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7526:Slc5a8
|
UTSW |
10 |
88,738,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Slc5a8
|
UTSW |
10 |
88,740,822 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7688:Slc5a8
|
UTSW |
10 |
88,757,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7869:Slc5a8
|
UTSW |
10 |
88,757,567 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8219:Slc5a8
|
UTSW |
10 |
88,757,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Slc5a8
|
UTSW |
10 |
88,757,552 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8937:Slc5a8
|
UTSW |
10 |
88,740,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Slc5a8
|
UTSW |
10 |
88,722,035 (GRCm39) |
start gained |
probably benign |
|
|
R9000:Slc5a8
|
UTSW |
10 |
88,762,090 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9000:Slc5a8
|
UTSW |
10 |
88,762,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9792:Slc5a8
|
UTSW |
10 |
88,757,591 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9795:Slc5a8
|
UTSW |
10 |
88,757,591 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1177:Slc5a8
|
UTSW |
10 |
88,745,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCTATAGGCATCTATTACGC -3'
(R):5'- GGTAATCCGATATGCACCCAC -3'
Sequencing Primer
(F):5'- GGCATCTATTACGCCTTCGC -3'
(R):5'- CCCACAAGGAGAGATTTCCATATGG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation