Incidental Mutation 'R5130:Slc5a8'
| ID |
394962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a8
|
| Ensembl Gene |
ENSMUSG00000020062 |
| Gene Name |
solute carrier family 5 (iodide transporter), member 8 |
| Synonyms |
SMCT |
| MMRRC Submission |
042718-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5130 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88721854-88765377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88762077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 572
(N572K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020255]
|
| AlphaFold |
Q8BYF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020255
AA Change: N572K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: N572K
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
96% (51/53) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
T |
C |
1: 161,780,184 (GRCm39) |
N110S |
possibly damaging |
Het |
| Acss3 |
T |
C |
10: 106,840,586 (GRCm39) |
I392V |
possibly damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,633,321 (GRCm39) |
H696R |
possibly damaging |
Het |
| Baiap3 |
G |
T |
17: 25,464,316 (GRCm39) |
D847E |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,425,600 (GRCm39) |
K72R |
probably benign |
Het |
| Cry2 |
T |
C |
2: 92,254,944 (GRCm39) |
E137G |
probably benign |
Het |
| Dhodh |
A |
T |
8: 110,322,388 (GRCm39) |
L237Q |
possibly damaging |
Het |
| Dscam |
A |
T |
16: 96,620,979 (GRCm39) |
N576K |
probably benign |
Het |
| Eng |
A |
G |
2: 32,571,518 (GRCm39) |
N636S |
probably damaging |
Het |
| Ephx2 |
A |
T |
14: 66,345,511 (GRCm39) |
I151K |
probably damaging |
Het |
| Fahd1 |
A |
G |
17: 25,068,733 (GRCm39) |
C115R |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,891,386 (GRCm39) |
I143F |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,161 (GRCm39) |
N981K |
probably damaging |
Het |
| Kcna5 |
T |
C |
6: 126,511,496 (GRCm39) |
I211V |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,506,495 (GRCm39) |
V14E |
possibly damaging |
Het |
| Mlh1 |
A |
G |
9: 111,058,906 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
G |
16: 34,809,367 (GRCm39) |
K1775E |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,021,769 (GRCm39) |
D541G |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,146,887 (GRCm39) |
M1233K |
possibly damaging |
Het |
| Nf2 |
A |
T |
11: 4,779,862 (GRCm39) |
|
probably benign |
Het |
| Nova2 |
C |
T |
7: 18,660,069 (GRCm39) |
T22I |
unknown |
Het |
| Or3a1d |
A |
T |
11: 74,237,993 (GRCm39) |
M19K |
probably damaging |
Het |
| Or7g28 |
T |
A |
9: 19,272,369 (GRCm39) |
Y94F |
possibly damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,805 (GRCm39) |
I125N |
probably damaging |
Het |
| Pcdha2 |
A |
T |
18: 37,073,722 (GRCm39) |
N451I |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,568,877 (GRCm39) |
F8I |
probably benign |
Het |
| Pdzph1 |
A |
C |
17: 59,229,604 (GRCm39) |
L1018W |
probably damaging |
Het |
| Prdm9 |
T |
C |
17: 15,764,729 (GRCm39) |
R684G |
probably benign |
Het |
| Rabep1 |
T |
A |
11: 70,795,557 (GRCm39) |
V261E |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Samd9l |
A |
T |
6: 3,374,548 (GRCm39) |
D904E |
possibly damaging |
Het |
| Siah3 |
A |
T |
14: 75,763,381 (GRCm39) |
K211* |
probably null |
Het |
| Slfn8 |
A |
G |
11: 82,894,647 (GRCm39) |
F664S |
probably benign |
Het |
| Sowahb |
T |
A |
5: 93,190,630 (GRCm39) |
K696N |
possibly damaging |
Het |
| St7l |
A |
T |
3: 104,803,080 (GRCm39) |
H330L |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,629,176 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
G |
T |
5: 111,040,722 (GRCm39) |
V37F |
probably benign |
Het |
| Uaca |
C |
A |
9: 60,787,510 (GRCm39) |
Q1409K |
probably damaging |
Het |
| V1rd19 |
T |
A |
7: 23,702,537 (GRCm39) |
M1K |
probably null |
Het |
| Vmn1r225 |
A |
G |
17: 20,723,047 (GRCm39) |
R163G |
possibly damaging |
Het |
| Wdr87-ps |
T |
C |
7: 29,228,699 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h3 |
C |
A |
15: 75,651,139 (GRCm39) |
V694L |
probably damaging |
Het |
| Zfp442 |
G |
T |
2: 150,251,530 (GRCm39) |
T123K |
possibly damaging |
Het |
| Zmym1 |
A |
T |
4: 126,942,451 (GRCm39) |
S646T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATACCACGCTAGCTTCTGC -3'
(R):5'- CCAGTGTATAAAGTGAGCCAAATC -3'
Sequencing Primer
(F):5'- CTGCCTTGTGTATGTTTGCATTTCAC -3'
(R):5'- CTGATCTGATCCAACTATCCTAAAAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation