Incidental Mutation 'R8219:Slc5a8'
| ID |
636566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a8
|
| Ensembl Gene |
ENSMUSG00000020062 |
| Gene Name |
solute carrier family 5 (iodide transporter), member 8 |
| Synonyms |
SMCT |
| MMRRC Submission |
067659-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8219 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88721854-88765377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88757561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 517
(Y517C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020255]
|
| AlphaFold |
Q8BYF6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020255
AA Change: Y517C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: Y517C
| 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: 99.8%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
100% (62/62) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
T |
11: 50,833,363 (GRCm39) |
S80T |
unknown |
Het |
| Acnat1 |
T |
A |
4: 49,447,748 (GRCm39) |
I278F |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,760,750 (GRCm39) |
Q815L |
probably benign |
Het |
| Aff1 |
T |
A |
5: 103,994,199 (GRCm39) |
Y1022N |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,950,335 (GRCm39) |
K1034E |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,933,357 (GRCm39) |
L645Q |
unknown |
Het |
| Atg9b |
A |
G |
5: 24,591,330 (GRCm39) |
L756P |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,770,811 (GRCm39) |
I411N |
probably damaging |
Het |
| Bmp6 |
T |
A |
13: 38,529,963 (GRCm39) |
C19S |
unknown |
Het |
| Borcs5 |
A |
G |
6: 134,621,313 (GRCm39) |
H27R |
probably benign |
Het |
| Cachd1 |
C |
A |
4: 100,848,159 (GRCm39) |
D1091E |
probably benign |
Het |
| Ccdc186 |
T |
A |
19: 56,781,777 (GRCm39) |
M801L |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,376,000 (GRCm39) |
M658K |
probably damaging |
Het |
| Col1a1 |
C |
T |
11: 94,834,184 (GRCm39) |
R500C |
probably damaging |
Het |
| Cul4a |
T |
A |
8: 13,196,540 (GRCm39) |
D731E |
possibly damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| E2f7 |
T |
A |
10: 110,595,704 (GRCm39) |
V133E |
probably damaging |
Het |
| Fam161b |
T |
C |
12: 84,393,648 (GRCm39) |
E575G |
probably benign |
Het |
| Fubp1 |
T |
A |
3: 151,926,103 (GRCm39) |
V275D |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,931,643 (GRCm39) |
R367* |
probably null |
Het |
| Gm6902 |
G |
A |
7: 22,973,143 (GRCm39) |
A128V |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,269,654 (GRCm39) |
T786A |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,196,492 (GRCm39) |
N981D |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,456,113 (GRCm39) |
I437L |
probably benign |
Het |
| Gulp1 |
A |
G |
1: 44,793,501 (GRCm39) |
|
probably null |
Het |
| Kcnn1 |
T |
C |
8: 71,305,499 (GRCm39) |
Y237C |
probably damaging |
Het |
| Klhl28 |
A |
T |
12: 64,998,431 (GRCm39) |
N354K |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,572,417 (GRCm39) |
Y541H |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,123,073 (GRCm39) |
Y706H |
probably damaging |
Het |
| Lima1 |
G |
T |
15: 99,678,671 (GRCm39) |
T590K |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Mrgprb8 |
G |
A |
7: 48,038,649 (GRCm39) |
V107M |
possibly damaging |
Het |
| Mrpl3 |
T |
A |
9: 104,934,271 (GRCm39) |
N139K |
possibly damaging |
Het |
| Nhsl3 |
T |
A |
4: 129,141,946 (GRCm39) |
D65V |
possibly damaging |
Het |
| Nudt16 |
T |
A |
9: 105,007,636 (GRCm39) |
N161I |
probably damaging |
Het |
| Obscn |
G |
A |
11: 59,013,574 (GRCm39) |
S1091L |
probably benign |
Het |
| Oog4 |
T |
C |
4: 143,166,508 (GRCm39) |
M99V |
probably benign |
Het |
| Or5b105 |
A |
C |
19: 13,080,284 (GRCm39) |
L122R |
probably damaging |
Het |
| Or8c16 |
A |
C |
9: 38,130,668 (GRCm39) |
D183A |
probably damaging |
Het |
| Osbpl6 |
A |
T |
2: 76,386,247 (GRCm39) |
D303V |
probably damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,647,708 (GRCm39) |
F279S |
probably damaging |
Het |
| Peg3 |
G |
A |
7: 6,711,364 (GRCm39) |
T1286I |
probably benign |
Het |
| Phax |
A |
G |
18: 56,708,754 (GRCm39) |
N106S |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,705,493 (GRCm39) |
Y148H |
probably damaging |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Ptprn2 |
C |
A |
12: 117,148,357 (GRCm39) |
Q706K |
probably benign |
Het |
| Rdh11 |
T |
G |
12: 79,235,880 (GRCm39) |
K23Q |
probably benign |
Het |
| Rit2 |
T |
A |
18: 31,108,547 (GRCm39) |
E146V |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,436,472 (GRCm39) |
|
probably benign |
Het |
| Sars1 |
T |
A |
3: 108,352,378 (GRCm39) |
E24V |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,144,932 (GRCm39) |
I1129V |
probably benign |
Het |
| Slc10a5 |
G |
T |
3: 10,400,384 (GRCm39) |
P92Q |
probably benign |
Het |
| Slc24a5 |
A |
T |
2: 124,927,575 (GRCm39) |
|
probably null |
Het |
| Slc6a5 |
A |
G |
7: 49,561,911 (GRCm39) |
M148V |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,952,857 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
T |
9: 122,874,117 (GRCm39) |
Y119F |
probably benign |
Het |
| Tgm6 |
A |
G |
2: 129,993,200 (GRCm39) |
K562R |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,851,016 (GRCm39) |
E627G |
possibly damaging |
Het |
| Tmprss11f |
A |
G |
5: 86,677,878 (GRCm39) |
L297P |
probably damaging |
Het |
| Tpbgl |
T |
C |
7: 99,274,978 (GRCm39) |
H293R |
probably benign |
Het |
| Trank1 |
A |
C |
9: 111,193,977 (GRCm39) |
K667T |
probably damaging |
Het |
| Trpm1 |
A |
T |
7: 63,851,699 (GRCm39) |
Q139L |
probably benign |
Het |
| Ttf2 |
T |
G |
3: 100,869,879 (GRCm39) |
K398T |
possibly damaging |
Het |
| Xpa |
A |
T |
4: 46,183,150 (GRCm39) |
M213K |
probably benign |
Het |
| Zmym2 |
T |
A |
14: 57,163,316 (GRCm39) |
S623T |
probably benign |
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 |
|
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 |
|
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'- ACAACAGTTCGAGATCAGCG -3'
(R):5'- GAACTTTATCTTAGAGCAACCTGTC -3'
Sequencing Primer
(F):5'- CAACAGTTCGAGATCAGCGTCATTG -3'
(R):5'- ACATAAGAGTGGTTATGTACCTGGCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation