Incidental Mutation 'R9000:Slc5a8'
| ID |
684928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a8
|
| Ensembl Gene |
ENSMUSG00000020062 |
| Gene Name |
solute carrier family 5 (iodide transporter), member 8 |
| Synonyms |
SMCT |
| MMRRC Submission |
068831-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9000 (G1)
|
| Quality Score |
219.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88721854-88765377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 88762089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 576
(N576K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020255]
|
| AlphaFold |
Q8BYF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020255
AA Change: N576K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: N576K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
90% (55/61) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,353,195 (GRCm39) |
N749S |
probably damaging |
Het |
| Acsl5 |
T |
C |
19: 55,283,943 (GRCm39) |
*684Q |
probably null |
Het |
| Actr5 |
A |
T |
2: 158,478,610 (GRCm39) |
T487S |
probably benign |
Het |
| Adam18 |
T |
A |
8: 25,127,162 (GRCm39) |
H478L |
probably benign |
Het |
| Adam5 |
A |
T |
8: 25,294,372 (GRCm39) |
|
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,854,570 (GRCm39) |
N475S |
probably benign |
Het |
| Akap9 |
G |
A |
5: 4,105,650 (GRCm39) |
R2907H |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,476,628 (GRCm39) |
V1330A |
probably damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,637,333 (GRCm39) |
M443K |
possibly damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,254,725 (GRCm39) |
H753Q |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,065,281 (GRCm39) |
H311R |
|
Het |
| Cdh23 |
A |
G |
10: 60,140,277 (GRCm39) |
Y3222H |
possibly damaging |
Het |
| Ces2f |
A |
G |
8: 105,677,661 (GRCm39) |
D222G |
probably benign |
Het |
| Cnot9 |
C |
T |
1: 74,561,544 (GRCm39) |
R130C |
probably benign |
Het |
| Cntnap2 |
G |
A |
6: 46,461,139 (GRCm39) |
|
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,769,197 (GRCm39) |
L932P |
probably damaging |
Het |
| Dgki |
T |
C |
6: 37,074,643 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
A |
C |
12: 110,606,397 (GRCm39) |
Q2489P |
probably benign |
Het |
| Elovl2 |
A |
G |
13: 41,338,810 (GRCm39) |
L280S |
probably benign |
Het |
| Fat1 |
C |
A |
8: 45,497,587 (GRCm39) |
Y4357* |
probably null |
Het |
| Fat3 |
T |
A |
9: 15,871,816 (GRCm39) |
Q3525L |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,918,095 (GRCm39) |
I1443V |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,806,211 (GRCm39) |
I457T |
probably damaging |
Het |
| Kcnq5 |
G |
T |
1: 21,557,483 (GRCm39) |
F332L |
probably damaging |
Het |
| Meiob |
A |
G |
17: 25,047,916 (GRCm39) |
|
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,769 (GRCm39) |
L53P |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,901,740 (GRCm39) |
V832I |
unknown |
Het |
| Nckap5l |
G |
A |
15: 99,321,310 (GRCm39) |
P1186S |
probably damaging |
Het |
| Ndufa4l2 |
A |
T |
10: 127,350,898 (GRCm39) |
R16S |
probably benign |
Het |
| Nrg2 |
T |
C |
18: 36,151,682 (GRCm39) |
Y620C |
probably damaging |
Het |
| Or4p4b-ps1 |
T |
A |
2: 88,454,525 (GRCm39) |
*293R |
probably null |
Het |
| Or52a24 |
T |
C |
7: 103,381,672 (GRCm39) |
S180P |
probably damaging |
Het |
| Pip4k2a |
T |
G |
2: 18,877,240 (GRCm39) |
Y165S |
possibly damaging |
Het |
| Plcd4 |
T |
A |
1: 74,601,024 (GRCm39) |
C500* |
probably null |
Het |
| Plcl1 |
C |
T |
1: 55,736,990 (GRCm39) |
P777L |
probably damaging |
Het |
| Pnliprp2 |
T |
C |
19: 58,762,555 (GRCm39) |
Y387H |
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,595,470 (GRCm39) |
D1119E |
probably benign |
Het |
| Prss51 |
T |
C |
14: 64,332,420 (GRCm39) |
S36P |
possibly damaging |
Het |
| Prune1 |
A |
G |
3: 95,162,635 (GRCm39) |
V346A |
probably benign |
Het |
| Saxo5 |
T |
C |
8: 3,526,083 (GRCm39) |
S79P |
possibly damaging |
Het |
| Scn5a |
T |
C |
9: 119,321,171 (GRCm39) |
T1464A |
possibly damaging |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GGGG |
GGGGCCCAGCTCAGCCACAGGG |
7: 126,066,743 (GRCm39) |
|
probably benign |
Het |
| Sim1 |
T |
G |
10: 50,860,316 (GRCm39) |
I726S |
probably benign |
Het |
| Sim1 |
T |
G |
10: 50,860,317 (GRCm39) |
I726M |
possibly damaging |
Het |
| Slc38a4 |
G |
A |
15: 96,897,475 (GRCm39) |
P447S |
possibly damaging |
Het |
| Slc5a12 |
A |
G |
2: 110,454,525 (GRCm39) |
E362G |
probably damaging |
Het |
| Snn |
A |
G |
16: 10,890,322 (GRCm39) |
E47G |
probably damaging |
Het |
| Snx19 |
T |
C |
9: 30,375,619 (GRCm39) |
V207A |
unknown |
Het |
| Srcap |
G |
A |
7: 127,130,943 (GRCm39) |
V720I |
possibly damaging |
Het |
| Syn3 |
T |
A |
10: 85,893,489 (GRCm39) |
R451S |
unknown |
Het |
| Tdrp |
A |
G |
8: 14,003,989 (GRCm39) |
V116A |
probably benign |
Het |
| Tef |
G |
A |
15: 81,695,773 (GRCm39) |
M1I |
probably null |
Het |
| Vmn1r232 |
T |
C |
17: 21,134,111 (GRCm39) |
K163R |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,986,711 (GRCm39) |
E164G |
probably damaging |
Het |
| Zcchc14 |
T |
G |
8: 122,336,880 (GRCm39) |
H178P |
unknown |
Het |
| Zfp37 |
T |
G |
4: 62,126,651 (GRCm39) |
K69T |
unknown |
Het |
| Zfp947 |
A |
G |
17: 22,365,161 (GRCm39) |
L171P |
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 |
|
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 |
|
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'- ATACCACGCTAGCTTCTGC -3'
(R):5'- CCAGTGTATAAAGTGAGCCAAATCG -3'
Sequencing Primer
(F):5'- CTGCCTTGTGTATGTTTGCATTTCAC -3'
(R):5'- CTGATCTGATCCAACTATCCTAAAAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation