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 |
88885992-88929515 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 88921765 bp (GRCm38)
|
| 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: 46,323,745 (GRCm38) |
R444L |
probably damaging |
Het |
| Baiap2 |
T |
A |
11: 119,999,292 (GRCm38) |
S460T |
possibly damaging |
Het |
| Cckar |
A |
G |
5: 53,701,292 (GRCm38) |
Y158H |
probably damaging |
Het |
| Cdk4 |
A |
G |
10: 127,064,297 (GRCm38) |
Y21C |
probably damaging |
Het |
| Entpd1 |
C |
T |
19: 40,711,270 (GRCm38) |
P42S |
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,951,839 (GRCm38) |
|
probably null |
Het |
| Fastkd1 |
A |
T |
2: 69,694,653 (GRCm38) |
|
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,123,482 (GRCm38) |
D951G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,649,902 (GRCm38) |
R517L |
probably damaging |
Het |
| Kcnj5 |
T |
A |
9: 32,322,423 (GRCm38) |
T199S |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,291,040 (GRCm38) |
|
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,229,384 (GRCm38) |
H1314Q |
possibly damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,173,848 (GRCm38) |
S795T |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,445,121 (GRCm38) |
S1042P |
probably damaging |
Het |
| Nlgn1 |
C |
A |
3: 25,912,697 (GRCm38) |
L197F |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,289,503 (GRCm38) |
Y428C |
probably benign |
Het |
| Olfr976 |
A |
G |
9: 39,956,159 (GRCm38) |
Y259H |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,841,219 (GRCm38) |
D1453G |
probably benign |
Het |
| Pcdhb8 |
A |
T |
18: 37,355,973 (GRCm38) |
I235F |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,675,220 (GRCm38) |
V1364A |
unknown |
Het |
| Polq |
T |
C |
16: 37,060,512 (GRCm38) |
S734P |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 67,064,038 (GRCm38) |
*290Q |
probably null |
Het |
| Slc22a3 |
A |
T |
17: 12,425,610 (GRCm38) |
I496N |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,359,080 (GRCm38) |
F1311L |
possibly damaging |
Het |
| Tex261 |
A |
T |
6: 83,775,668 (GRCm38) |
I19N |
possibly damaging |
Het |
| Tfr2 |
T |
C |
5: 137,571,692 (GRCm38) |
V120A |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,624,374 (GRCm38) |
S799C |
probably damaging |
Het |
| Zar1 |
G |
A |
5: 72,577,285 (GRCm38) |
T197I |
probably damaging |
Het |
| Zfa-ps |
A |
G |
10: 52,543,947 (GRCm38) |
|
noncoding transcript |
Het |
|
| Other mutations in Slc5a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Slc5a8
|
APN |
10 |
88,908,040 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL00902:Slc5a8
|
APN |
10 |
88,919,461 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01109:Slc5a8
|
APN |
10 |
88,906,392 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01365:Slc5a8
|
APN |
10 |
88,892,097 (GRCm38) |
splice site |
probably benign |
|
|
IGL01418:Slc5a8
|
APN |
10 |
88,905,033 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01823:Slc5a8
|
APN |
10 |
88,919,472 (GRCm38) |
nonsense |
probably null |
|
|
IGL02116:Slc5a8
|
APN |
10 |
88,919,500 (GRCm38) |
missense |
probably benign |
|
|
IGL03109:Slc5a8
|
APN |
10 |
88,906,416 (GRCm38) |
splice site |
probably benign |
|
|
PIT4585001:Slc5a8
|
UTSW |
10 |
88,886,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0010:Slc5a8
|
UTSW |
10 |
88,886,590 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0418:Slc5a8
|
UTSW |
10 |
88,886,558 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1233:Slc5a8
|
UTSW |
10 |
88,918,442 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1656:Slc5a8
|
UTSW |
10 |
88,925,786 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1769:Slc5a8
|
UTSW |
10 |
88,919,466 (GRCm38) |
nonsense |
probably null |
|
|
R1769:Slc5a8
|
UTSW |
10 |
88,919,464 (GRCm38) |
missense |
probably benign |
|
|
R2870:Slc5a8
|
UTSW |
10 |
88,904,963 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2870:Slc5a8
|
UTSW |
10 |
88,904,963 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2873:Slc5a8
|
UTSW |
10 |
88,904,963 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3883:Slc5a8
|
UTSW |
10 |
88,902,463 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4207:Slc5a8
|
UTSW |
10 |
88,911,413 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4731:Slc5a8
|
UTSW |
10 |
88,925,787 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4880:Slc5a8
|
UTSW |
10 |
88,892,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4969:Slc5a8
|
UTSW |
10 |
88,904,912 (GRCm38) |
splice site |
probably null |
|
|
R4998:Slc5a8
|
UTSW |
10 |
88,908,057 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5009:Slc5a8
|
UTSW |
10 |
88,909,654 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5068:Slc5a8
|
UTSW |
10 |
88,886,598 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5069:Slc5a8
|
UTSW |
10 |
88,886,598 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5070:Slc5a8
|
UTSW |
10 |
88,886,598 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5130:Slc5a8
|
UTSW |
10 |
88,926,215 (GRCm38) |
missense |
probably benign |
|
|
R5141:Slc5a8
|
UTSW |
10 |
88,919,560 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5252:Slc5a8
|
UTSW |
10 |
88,906,347 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5659:Slc5a8
|
UTSW |
10 |
88,919,428 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5660:Slc5a8
|
UTSW |
10 |
88,919,428 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5661:Slc5a8
|
UTSW |
10 |
88,919,428 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6039:Slc5a8
|
UTSW |
10 |
88,886,574 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6039:Slc5a8
|
UTSW |
10 |
88,886,574 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6378:Slc5a8
|
UTSW |
10 |
88,905,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7214:Slc5a8
|
UTSW |
10 |
88,919,502 (GRCm38) |
missense |
probably benign |
|
|
R7255:Slc5a8
|
UTSW |
10 |
88,909,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7526:Slc5a8
|
UTSW |
10 |
88,902,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7604:Slc5a8
|
UTSW |
10 |
88,904,960 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R7688:Slc5a8
|
UTSW |
10 |
88,921,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7869:Slc5a8
|
UTSW |
10 |
88,921,705 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8219:Slc5a8
|
UTSW |
10 |
88,921,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8474:Slc5a8
|
UTSW |
10 |
88,921,690 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R8937:Slc5a8
|
UTSW |
10 |
88,905,023 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8960:Slc5a8
|
UTSW |
10 |
88,886,173 (GRCm38) |
start gained |
probably benign |
|
|
R9000:Slc5a8
|
UTSW |
10 |
88,926,228 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9000:Slc5a8
|
UTSW |
10 |
88,926,227 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9792:Slc5a8
|
UTSW |
10 |
88,921,729 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R9795:Slc5a8
|
UTSW |
10 |
88,921,729 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
Z1177:Slc5a8
|
UTSW |
10 |
88,909,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation