Incidental Mutation 'R5252:Slc5a8'
| ID |
399119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a8
|
| Ensembl Gene |
ENSMUSG00000020062 |
| Gene Name |
solute carrier family 5 (iodide transporter), member 8 |
| Synonyms |
SMCT |
| MMRRC Submission |
042823-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88721854-88765377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88742209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 302
(Y302H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020255]
|
| AlphaFold |
Q8BYF6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020255
AA Change: Y302H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: Y302H
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
G |
T |
11: 69,056,762 (GRCm39) |
R386L |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,935,261 (GRCm39) |
Y346N |
probably damaging |
Het |
| Cabp4 |
T |
C |
19: 4,186,067 (GRCm39) |
|
probably benign |
Het |
| Canx |
A |
T |
11: 50,199,621 (GRCm39) |
I148N |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,962,593 (GRCm39) |
V117A |
probably benign |
Het |
| Cdk12 |
A |
T |
11: 98,134,335 (GRCm39) |
N1078Y |
unknown |
Het |
| Cdk7 |
T |
A |
13: 100,866,968 (GRCm39) |
K42* |
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,817,489 (GRCm39) |
D274G |
unknown |
Het |
| Cux1 |
T |
C |
5: 136,337,151 (GRCm39) |
E696G |
probably damaging |
Het |
| Cxxc1 |
C |
T |
18: 74,353,022 (GRCm39) |
A444V |
probably benign |
Het |
| Dll1 |
T |
C |
17: 15,588,951 (GRCm39) |
K575E |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,089,676 (GRCm39) |
F1130S |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,420,295 (GRCm39) |
F140L |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,163,450 (GRCm39) |
V1625A |
probably damaging |
Het |
| Evi5 |
T |
C |
5: 107,943,618 (GRCm39) |
T592A |
probably benign |
Het |
| Fas |
T |
C |
19: 34,294,043 (GRCm39) |
S133P |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,744,427 (GRCm39) |
S53P |
probably benign |
Het |
| H2-Q4 |
T |
C |
17: 35,599,411 (GRCm39) |
F165L |
probably benign |
Het |
| Ighv9-2 |
A |
G |
12: 114,072,838 (GRCm39) |
V45A |
probably benign |
Het |
| Inpp1 |
T |
G |
1: 52,833,706 (GRCm39) |
D130A |
probably benign |
Het |
| Lin54 |
C |
T |
5: 100,628,063 (GRCm39) |
V47I |
probably benign |
Het |
| Nav3 |
TGAAGAAGAAGAAGA |
TGAAGAAGAAGA |
10: 109,550,152 (GRCm39) |
|
probably benign |
Het |
| Nexn |
T |
C |
3: 151,943,590 (GRCm39) |
T438A |
probably benign |
Het |
| Or4c112 |
A |
T |
2: 88,853,598 (GRCm39) |
F250I |
probably damaging |
Het |
| Or8g4 |
T |
G |
9: 39,661,784 (GRCm39) |
I34S |
probably damaging |
Het |
| Pilrb1 |
T |
A |
5: 137,853,315 (GRCm39) |
M163L |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,420,635 (GRCm39) |
|
probably null |
Het |
| Ppard |
G |
A |
17: 28,517,822 (GRCm39) |
V297I |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,365,369 (GRCm39) |
V214A |
probably benign |
Het |
| Serpinc1 |
T |
C |
1: 160,817,191 (GRCm39) |
F95S |
probably damaging |
Het |
| Slco4a1 |
G |
A |
2: 180,106,252 (GRCm39) |
A145T |
possibly damaging |
Het |
| Spata31g1 |
T |
A |
4: 42,971,706 (GRCm39) |
F346L |
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,382,829 (GRCm39) |
M425K |
possibly damaging |
Het |
| Tent5c |
A |
G |
3: 100,380,024 (GRCm39) |
L244P |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,074,464 (GRCm39) |
S429P |
probably benign |
Het |
| Unc13a |
T |
A |
8: 72,105,208 (GRCm39) |
T723S |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,553,914 (GRCm39) |
I3468F |
possibly damaging |
Het |
| Utp20 |
A |
T |
10: 88,586,532 (GRCm39) |
D2547E |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,159,574 (GRCm39) |
D593G |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,315,756 (GRCm39) |
L1240P |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAGGTCTATTCTCTGAGAAAC -3'
(R):5'- TAGTTGCACTGTGCCCACTTG -3'
Sequencing Primer
(F):5'- CTACCAGAAGAGTTTATAGATGCATC -3'
(R):5'- TGCTGGGTCTCTATGAGAATGAAAAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation