Incidental Mutation 'IGL00960:Slc5a8'
| ID |
28386 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc5a8
|
| Ensembl Gene |
ENSMUSG00000020062 |
| Gene Name |
solute carrier family 5 (iodide transporter), member 8 |
| Synonyms |
SMCT |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00960
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
88721854-88765377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 88757627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 539
(I539S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020255]
|
| AlphaFold |
Q8BYF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020255
AA Change: I539S
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: I539S
| 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 |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
A |
17: 46,634,671 (GRCm39) |
R444L |
probably damaging |
Het |
| Baiap2 |
T |
A |
11: 119,890,118 (GRCm39) |
S460T |
possibly damaging |
Het |
| Cckar |
A |
G |
5: 53,858,634 (GRCm39) |
Y158H |
probably damaging |
Het |
| Cdk4 |
A |
G |
10: 126,900,166 (GRCm39) |
Y21C |
probably damaging |
Het |
| Entpd1 |
C |
T |
19: 40,699,714 (GRCm39) |
P42S |
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,679,150 (GRCm39) |
|
probably null |
Het |
| Fastkd1 |
A |
T |
2: 69,524,997 (GRCm39) |
|
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,013,494 (GRCm39) |
D951G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnj5 |
T |
A |
9: 32,233,719 (GRCm39) |
T199S |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,181,866 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,466,820 (GRCm39) |
H1314Q |
possibly damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,150,811 (GRCm39) |
S795T |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,335,947 (GRCm39) |
S1042P |
probably damaging |
Het |
| Nlgn1 |
C |
A |
3: 25,966,861 (GRCm39) |
L197F |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,446,846 (GRCm39) |
Y428C |
probably benign |
Het |
| Or10d5j |
A |
G |
9: 39,867,455 (GRCm39) |
Y259H |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,661,589 (GRCm39) |
D1453G |
probably benign |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,026 (GRCm39) |
I235F |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,725,234 (GRCm39) |
V1364A |
unknown |
Het |
| Polq |
T |
C |
16: 36,880,874 (GRCm39) |
S734P |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 66,954,864 (GRCm39) |
*290Q |
probably null |
Het |
| Slc22a3 |
A |
T |
17: 12,644,497 (GRCm39) |
I496N |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,270,376 (GRCm39) |
F1311L |
possibly damaging |
Het |
| Tex261 |
A |
T |
6: 83,752,650 (GRCm39) |
I19N |
possibly damaging |
Het |
| Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,582 (GRCm39) |
S799C |
probably damaging |
Het |
| Zar1 |
G |
A |
5: 72,734,628 (GRCm39) |
T197I |
probably damaging |
Het |
| Zfa-ps |
A |
G |
10: 52,420,043 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation