Incidental Mutation 'R3883:Slc5a8'
| ID |
308830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a8
|
| Ensembl Gene |
ENSMUSG00000020062 |
| Gene Name |
solute carrier family 5 (iodide transporter), member 8 |
| Synonyms |
SMCT |
| MMRRC Submission |
040796-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3883 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88885992-88929515 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88902463 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 196
(M196K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020255]
|
| AlphaFold |
Q8BYF6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020255
AA Change: M196K
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: M196K
| 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 |
0.6986 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (45/46) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
C |
T |
8: 46,527,191 (GRCm38) |
S423L |
probably benign |
Het |
| Ankmy1 |
T |
G |
1: 92,886,152 (GRCm38) |
E435A |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,566,304 (GRCm38) |
M343K |
probably damaging |
Het |
| Arsi |
G |
A |
18: 60,916,651 (GRCm38) |
G202E |
probably benign |
Het |
| C3 |
T |
C |
17: 57,217,173 (GRCm38) |
|
probably null |
Het |
| C530008M17Rik |
T |
A |
5: 76,856,574 (GRCm38) |
W261R |
unknown |
Het |
| Cdk17 |
T |
C |
10: 93,212,077 (GRCm38) |
|
probably null |
Het |
| Cntn2 |
A |
G |
1: 132,528,939 (GRCm38) |
V123A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,762,563 (GRCm38) |
Y1449H |
probably damaging |
Het |
| Ddx42 |
T |
A |
11: 106,247,692 (GRCm38) |
N772K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,978,453 (GRCm38) |
|
probably benign |
Het |
| Edn1 |
T |
A |
13: 42,301,906 (GRCm38) |
F4L |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,274,116 (GRCm38) |
R552* |
probably null |
Het |
| Epc1 |
T |
C |
18: 6,452,258 (GRCm38) |
D267G |
possibly damaging |
Het |
| Fbxo22 |
A |
T |
9: 55,223,262 (GRCm38) |
T169S |
probably benign |
Het |
| Fmnl1 |
A |
G |
11: 103,182,114 (GRCm38) |
N144D |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,775,656 (GRCm38) |
L35P |
possibly damaging |
Het |
| Gm10220 |
A |
C |
5: 26,116,910 (GRCm38) |
S255A |
possibly damaging |
Het |
| Gm15446 |
G |
T |
5: 109,940,447 (GRCm38) |
V9L |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,699,265 (GRCm38) |
L1011P |
probably damaging |
Het |
| Kif4-ps |
G |
T |
12: 101,146,214 (GRCm38) |
V201L |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 44,139,463 (GRCm38) |
V40A |
possibly damaging |
Het |
| Lgsn |
C |
A |
1: 31,176,459 (GRCm38) |
D3E |
probably benign |
Het |
| Mavs |
T |
C |
2: 131,245,298 (GRCm38) |
S239P |
probably benign |
Het |
| Mkl2 |
T |
A |
16: 13,401,458 (GRCm38) |
V667D |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,419,267 (GRCm38) |
Y403C |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,295,250 (GRCm38) |
L390V |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 85,663,265 (GRCm38) |
S190P |
probably damaging |
Het |
| Ngly1 |
A |
G |
14: 16,270,574 (GRCm38) |
I195V |
probably damaging |
Het |
| Olfr1339 |
T |
C |
4: 118,734,685 (GRCm38) |
I52T |
probably benign |
Het |
| Olfr961 |
A |
G |
9: 39,647,124 (GRCm38) |
I133V |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,713,188 (GRCm38) |
K1632E |
probably damaging |
Het |
| Pigk |
T |
C |
3: 152,714,195 (GRCm38) |
S21P |
probably benign |
Het |
| Rabggtb |
A |
G |
3: 153,910,780 (GRCm38) |
F82L |
probably damaging |
Het |
| Reep6 |
G |
A |
10: 80,335,535 (GRCm38) |
R415Q |
probably benign |
Het |
| Serpinb13 |
T |
C |
1: 106,998,572 (GRCm38) |
V159A |
probably benign |
Het |
| Sprr1a |
G |
A |
3: 92,484,520 (GRCm38) |
P58L |
probably damaging |
Het |
| Taf1a |
A |
T |
1: 183,390,948 (GRCm38) |
T10S |
possibly damaging |
Het |
| Tap1 |
T |
A |
17: 34,193,258 (GRCm38) |
V479E |
probably damaging |
Het |
| Trpm4 |
C |
T |
7: 45,321,998 (GRCm38) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 188,263,382 (GRCm38) |
Y117H |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,864,490 (GRCm38) |
L243* |
probably null |
Het |
| Zbtb32 |
A |
G |
7: 30,591,144 (GRCm38) |
I242T |
probably benign |
Het |
| Zbtb7a |
T |
C |
10: 81,148,025 (GRCm38) |
C434R |
probably damaging |
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 |
|
IGL00960:Slc5a8
|
APN |
10 |
88,921,765 (GRCm38) |
missense |
probably benign |
0.21 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGGGAACTTCTTGACCAAAC -3'
(R):5'- TGATCCAGTGGCATCAGGATG -3'
Sequencing Primer
(F):5'- GGGAACTTCTTGACCAAACTCCATG -3'
(R):5'- CAGACCACATCATTAGTGACTTATTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation