Incidental Mutation 'R5548:Slc16a5'
ID |
435001 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc16a5
|
Ensembl Gene |
ENSMUSG00000045775 |
Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 5 |
Synonyms |
MCT5, A130015N09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R5548 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
115353300-115365224 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115360630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 271
(Y271F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092445]
[ENSMUST00000106532]
[ENSMUST00000153466]
|
AlphaFold |
G5E8K6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092445
AA Change: Y271F
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000090102 Gene: ENSMUSG00000045775 AA Change: Y271F
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
15 |
303 |
5.9e-31 |
PFAM |
Pfam:MFS_1
|
302 |
459 |
6.2e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106532
|
SMART Domains |
Protein: ENSMUSP00000102142 Gene: ENSMUSG00000045775
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125251
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133636
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139318
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140567
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140739
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146500
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153466
|
SMART Domains |
Protein: ENSMUSP00000117727 Gene: ENSMUSG00000045775
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
73 |
N/A |
INTRINSIC |
transmembrane domain
|
85 |
107 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporter of bumetanide. Transport by the encoded protein is inhibited by four loop diuretics, nateglinide, thiazides, probenecid, and glibenclamide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
T |
C |
10: 28,849,863 (GRCm39) |
D191G |
probably benign |
Het |
Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
Cdh12 |
C |
T |
15: 21,492,740 (GRCm39) |
T253I |
probably damaging |
Het |
Cox4i2 |
C |
T |
2: 152,599,011 (GRCm39) |
T56I |
possibly damaging |
Het |
Cpsf1 |
A |
C |
15: 76,481,527 (GRCm39) |
D1141E |
possibly damaging |
Het |
Dennd5b |
T |
C |
6: 148,920,847 (GRCm39) |
|
probably null |
Het |
Dnah6 |
A |
T |
6: 73,128,672 (GRCm39) |
D1194E |
probably damaging |
Het |
Dst |
C |
A |
1: 34,228,409 (GRCm39) |
H1676N |
probably benign |
Het |
Eif4a3l1 |
T |
C |
6: 136,306,568 (GRCm39) |
V343A |
probably damaging |
Het |
Fitm1 |
A |
G |
14: 55,813,154 (GRCm39) |
T6A |
probably benign |
Het |
Galnt5 |
T |
A |
2: 57,904,922 (GRCm39) |
V495E |
probably damaging |
Het |
Gtf2h2 |
C |
A |
13: 100,617,544 (GRCm39) |
R206L |
possibly damaging |
Het |
Heatr5a |
A |
T |
12: 52,005,734 (GRCm39) |
Y80* |
probably null |
Het |
Il17ra |
A |
G |
6: 120,455,434 (GRCm39) |
R348G |
probably benign |
Het |
Mmp28 |
A |
T |
11: 83,334,733 (GRCm39) |
Y340* |
probably null |
Het |
Mrgprb8 |
A |
T |
7: 48,038,778 (GRCm39) |
T150S |
probably benign |
Het |
Ms4a10 |
A |
T |
19: 10,945,484 (GRCm39) |
|
probably null |
Het |
Muc5b |
A |
T |
7: 141,417,679 (GRCm39) |
I3542F |
probably benign |
Het |
Mybbp1a |
T |
C |
11: 72,336,998 (GRCm39) |
L578P |
probably damaging |
Het |
N4bp2l1 |
G |
A |
5: 150,496,420 (GRCm39) |
R65* |
probably null |
Het |
Nhsl3 |
GGTG |
GGTGTG |
4: 129,117,773 (GRCm39) |
|
probably null |
Het |
Nup188 |
T |
A |
2: 30,216,505 (GRCm39) |
Y770N |
probably damaging |
Het |
Or8b3b |
T |
C |
9: 38,584,600 (GRCm39) |
I60V |
probably benign |
Het |
Or8s5 |
T |
A |
15: 98,238,253 (GRCm39) |
T206S |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,827,381 (GRCm39) |
C1257S |
probably damaging |
Het |
Pcdh8 |
T |
C |
14: 80,004,942 (GRCm39) |
T1028A |
probably damaging |
Het |
Pramel16 |
C |
T |
4: 143,676,550 (GRCm39) |
E185K |
probably benign |
Het |
Qars1 |
C |
T |
9: 108,390,117 (GRCm39) |
P348S |
possibly damaging |
Het |
Qrfpr |
T |
A |
3: 36,276,075 (GRCm39) |
Q105L |
possibly damaging |
Het |
Slc10a5 |
A |
T |
3: 10,399,377 (GRCm39) |
Y428N |
probably benign |
Het |
Slc1a4 |
T |
A |
11: 20,254,429 (GRCm39) |
Q479L |
possibly damaging |
Het |
Slc38a1 |
C |
T |
15: 96,488,355 (GRCm39) |
G143S |
probably damaging |
Het |
Susd1 |
G |
A |
4: 59,369,577 (GRCm39) |
T364M |
probably benign |
Het |
Tmem132c |
T |
A |
5: 127,628,587 (GRCm39) |
Y496* |
probably null |
Het |
Tmem63b |
A |
G |
17: 45,975,884 (GRCm39) |
I523T |
probably damaging |
Het |
Tnrc6c |
T |
C |
11: 117,651,669 (GRCm39) |
S1731P |
possibly damaging |
Het |
Ttll3 |
T |
A |
6: 113,370,078 (GRCm39) |
W139R |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,187,401 (GRCm39) |
T3823M |
probably damaging |
Het |
Vangl1 |
T |
A |
3: 102,091,762 (GRCm39) |
D108V |
possibly damaging |
Het |
Vmn1r120 |
T |
C |
7: 20,787,482 (GRCm39) |
I76M |
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,156,886 (GRCm39) |
Y17H |
probably damaging |
Het |
Xkr4 |
C |
T |
1: 3,287,153 (GRCm39) |
A346T |
probably damaging |
Het |
Zfp267 |
C |
G |
3: 36,219,640 (GRCm39) |
H554Q |
possibly damaging |
Het |
Zfp600 |
T |
A |
4: 146,133,019 (GRCm39) |
S562R |
possibly damaging |
Het |
|
Other mutations in Slc16a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01832:Slc16a5
|
APN |
11 |
115,355,827 (GRCm39) |
missense |
probably benign |
|
IGL02190:Slc16a5
|
APN |
11 |
115,353,435 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
IGL02852:Slc16a5
|
APN |
11 |
115,360,405 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02942:Slc16a5
|
APN |
11 |
115,360,176 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0090:Slc16a5
|
UTSW |
11 |
115,355,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R1928:Slc16a5
|
UTSW |
11 |
115,360,842 (GRCm39) |
missense |
probably damaging |
0.98 |
R1930:Slc16a5
|
UTSW |
11 |
115,360,194 (GRCm39) |
missense |
probably damaging |
0.99 |
R1931:Slc16a5
|
UTSW |
11 |
115,360,194 (GRCm39) |
missense |
probably damaging |
0.99 |
R5255:Slc16a5
|
UTSW |
11 |
115,353,501 (GRCm39) |
missense |
probably benign |
0.13 |
R5592:Slc16a5
|
UTSW |
11 |
115,363,608 (GRCm39) |
missense |
probably benign |
0.05 |
R5770:Slc16a5
|
UTSW |
11 |
115,363,604 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8381:Slc16a5
|
UTSW |
11 |
115,360,716 (GRCm39) |
missense |
probably benign |
|
R8560:Slc16a5
|
UTSW |
11 |
115,360,545 (GRCm39) |
missense |
probably benign |
0.00 |
R9487:Slc16a5
|
UTSW |
11 |
115,360,738 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1176:Slc16a5
|
UTSW |
11 |
115,360,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATACCTACACGCAGCTGC -3'
(R):5'- CACACATGGACAGGCTGTAC -3'
Sequencing Primer
(F):5'- CGCAGCTGCCTGGCAAC -3'
(R):5'- TGGACAGGCTGTACACCAG -3'
|
Posted On |
2016-10-24 |