Incidental Mutation 'R9795:Slc5a8'
ID |
734893 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc5a8
|
Ensembl Gene |
ENSMUSG00000020062 |
Gene Name |
solute carrier family 5 (iodide transporter), member 8 |
Synonyms |
SMCT |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9795 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
88721854-88765377 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88757591 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 527
(I527T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020255]
|
AlphaFold |
Q8BYF6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020255
AA Change: I527T
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000020255 Gene: ENSMUSG00000020062 AA Change: I527T
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: 99.4%
- 20x: 98.6%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
C |
T |
15: 94,301,180 (GRCm39) |
G115R |
possibly damaging |
Het |
Adgrl3 |
T |
C |
5: 81,837,421 (GRCm39) |
V701A |
probably damaging |
Het |
Afap1l1 |
T |
C |
18: 61,874,822 (GRCm39) |
D453G |
possibly damaging |
Het |
Ano1 |
A |
T |
7: 144,175,434 (GRCm39) |
W495R |
probably damaging |
Het |
Apc |
T |
A |
18: 34,447,628 (GRCm39) |
L1508Q |
probably damaging |
Het |
Bbs12 |
C |
T |
3: 37,374,224 (GRCm39) |
T224I |
possibly damaging |
Het |
Cald1 |
A |
T |
6: 34,723,071 (GRCm39) |
M52L |
|
Het |
Calhm6 |
T |
C |
10: 34,002,544 (GRCm39) |
I180V |
probably damaging |
Het |
Ccdc9b |
T |
C |
2: 118,587,784 (GRCm39) |
S517G |
unknown |
Het |
Cdk12 |
T |
A |
11: 98,102,051 (GRCm39) |
D636E |
unknown |
Het |
Cfap53 |
A |
G |
18: 74,438,741 (GRCm39) |
D306G |
probably benign |
Het |
Cntnap4 |
T |
C |
8: 113,608,357 (GRCm39) |
V1259A |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,409,192 (GRCm39) |
T477S |
probably benign |
Het |
Epha3 |
T |
C |
16: 63,372,910 (GRCm39) |
E931G |
probably benign |
Het |
Foxred1 |
CGGG |
CGG |
9: 35,122,152 (GRCm39) |
|
probably null |
Het |
Gstt1 |
T |
C |
10: 75,634,391 (GRCm39) |
|
probably benign |
Het |
Hao1 |
T |
A |
2: 134,372,552 (GRCm39) |
Y152F |
possibly damaging |
Het |
Hcn4 |
C |
T |
9: 58,760,762 (GRCm39) |
Q436* |
probably null |
Het |
Hmcn1 |
G |
A |
1: 150,608,689 (GRCm39) |
P1498S |
possibly damaging |
Het |
Igkv4-79 |
A |
G |
6: 69,020,169 (GRCm39) |
S49P |
probably damaging |
Het |
Krt73 |
C |
A |
15: 101,710,725 (GRCm39) |
R3L |
probably damaging |
Het |
Lrriq3 |
T |
C |
3: 154,893,313 (GRCm39) |
M338T |
probably benign |
Het |
Ltbp2 |
A |
T |
12: 84,876,128 (GRCm39) |
I493N |
probably damaging |
Het |
Ly6e |
G |
T |
15: 74,830,390 (GRCm39) |
C80F |
probably damaging |
Het |
Map1a |
T |
C |
2: 121,121,304 (GRCm39) |
|
probably null |
Het |
Mitf |
A |
G |
6: 97,970,143 (GRCm39) |
H137R |
probably benign |
Het |
Nr1h4 |
T |
G |
10: 89,314,651 (GRCm39) |
T286P |
probably benign |
Het |
Nsd2 |
A |
G |
5: 34,003,489 (GRCm39) |
D213G |
possibly damaging |
Het |
Nuggc |
T |
C |
14: 65,847,345 (GRCm39) |
S131P |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,964,232 (GRCm39) |
E1272G |
probably damaging |
Het |
Or2y1 |
A |
T |
11: 49,385,882 (GRCm39) |
N174I |
probably damaging |
Het |
Or4a78 |
T |
C |
2: 89,497,811 (GRCm39) |
I140V |
probably benign |
Het |
Or4f14c |
T |
C |
2: 111,941,330 (GRCm39) |
H89R |
probably benign |
Het |
Or5ac17 |
T |
A |
16: 59,036,938 (GRCm39) |
I13F |
possibly damaging |
Het |
Or5p79 |
A |
G |
7: 108,221,869 (GRCm39) |
I283M |
probably benign |
Het |
Or7e170 |
T |
A |
9: 19,795,347 (GRCm39) |
M85L |
probably benign |
Het |
Or7g32 |
T |
C |
9: 19,408,412 (GRCm39) |
Y123H |
probably damaging |
Het |
Or8h9 |
T |
A |
2: 86,789,119 (GRCm39) |
I228F |
probably damaging |
Het |
Pacsin3 |
C |
A |
2: 91,094,160 (GRCm39) |
A363D |
probably benign |
Het |
Pcdh17 |
C |
T |
14: 84,770,350 (GRCm39) |
R943* |
probably null |
Het |
Pkhd1l1 |
T |
C |
15: 44,406,983 (GRCm39) |
S2407P |
probably benign |
Het |
Ppip5k2 |
A |
T |
1: 97,671,822 (GRCm39) |
Y489* |
probably null |
Het |
Qrich1 |
T |
A |
9: 108,411,089 (GRCm39) |
S205T |
probably benign |
Het |
Rasgrp1 |
T |
C |
2: 117,118,429 (GRCm39) |
D520G |
probably benign |
Het |
Rbm20 |
C |
A |
19: 53,852,551 (GRCm39) |
T1177K |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Sel1l3 |
C |
A |
5: 53,329,924 (GRCm39) |
R477L |
probably benign |
Het |
Slc27a3 |
C |
T |
3: 90,296,875 (GRCm39) |
W32* |
probably null |
Het |
Slc6a7 |
C |
A |
18: 61,138,866 (GRCm39) |
R214L |
probably benign |
Het |
Stx7 |
T |
C |
10: 24,057,475 (GRCm39) |
L167P |
probably damaging |
Het |
Sult1d1 |
T |
A |
5: 87,712,655 (GRCm39) |
N63I |
probably damaging |
Het |
Ttc23l |
T |
A |
15: 10,537,731 (GRCm39) |
I180F |
probably benign |
Het |
Usp31 |
A |
G |
7: 121,247,499 (GRCm39) |
S1315P |
probably benign |
Het |
Usp9y |
T |
C |
Y: 1,364,679 (GRCm39) |
M1045V |
probably benign |
Het |
Vmn2r118 |
T |
C |
17: 55,899,496 (GRCm39) |
T803A |
probably damaging |
Het |
Vmn2r97 |
T |
A |
17: 19,167,561 (GRCm39) |
V605D |
probably damaging |
Het |
Wdr26 |
A |
G |
1: 181,036,812 (GRCm39) |
F143S |
probably damaging |
Het |
Zfp51 |
T |
G |
17: 21,682,051 (GRCm39) |
|
probably null |
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 |
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 |
Z1177:Slc5a8
|
UTSW |
10 |
88,745,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCGAGATCAGCGTCATTG -3'
(R):5'- CAGCTGAACTTTATCTTAGAGCAACC -3'
Sequencing Primer
(F):5'- CGAGATCAGCGTCATTGATTATG -3'
(R):5'- ACATAAGAGTGGTTATGTACCTGGCC -3'
|
Posted On |
2022-11-14 |