Incidental Mutation 'IGL01832:Slc16a5'
ID |
154792 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01832
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115353300-115365224 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115355827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 96
(V96A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092445]
[ENSMUST00000106532]
[ENSMUST00000153466]
|
AlphaFold |
G5E8K6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092445
AA Change: V96A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000090102 Gene: ENSMUSG00000045775 AA Change: V96A
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: ENSMUST00000146500
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153466
AA Change: V96A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117727 Gene: ENSMUSG00000045775 AA Change: V96A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140739
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144230
|
Coding Region Coverage |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap10 |
G |
A |
8: 77,985,758 (GRCm39) |
T681I |
probably benign |
Het |
Atg4b |
T |
C |
1: 93,713,626 (GRCm39) |
|
probably benign |
Het |
Atp10b |
T |
A |
11: 43,125,262 (GRCm39) |
M1076K |
probably damaging |
Het |
Atp23 |
A |
T |
10: 126,730,214 (GRCm39) |
N111K |
probably damaging |
Het |
Atxn2 |
C |
A |
5: 121,944,331 (GRCm39) |
Y72* |
probably null |
Het |
C1qtnf12 |
A |
G |
4: 156,050,323 (GRCm39) |
D220G |
probably damaging |
Het |
C2cd3 |
A |
T |
7: 100,076,421 (GRCm39) |
T1171S |
possibly damaging |
Het |
Ccdc15 |
G |
A |
9: 37,222,640 (GRCm39) |
R585W |
probably damaging |
Het |
Cep152 |
A |
C |
2: 125,460,414 (GRCm39) |
Y179* |
probably null |
Het |
Cpa2 |
T |
C |
6: 30,551,998 (GRCm39) |
S242P |
probably benign |
Het |
Ctps2 |
G |
T |
X: 161,719,699 (GRCm39) |
|
probably benign |
Het |
Cttnbp2nl |
A |
G |
3: 104,918,544 (GRCm39) |
S99P |
probably damaging |
Het |
Ddx20 |
A |
G |
3: 105,586,327 (GRCm39) |
S673P |
probably damaging |
Het |
Erbb4 |
T |
C |
1: 68,293,725 (GRCm39) |
K722R |
possibly damaging |
Het |
Ercc8 |
A |
G |
13: 108,305,993 (GRCm39) |
T123A |
probably damaging |
Het |
Ermard |
T |
C |
17: 15,280,111 (GRCm39) |
V87A |
probably damaging |
Het |
Fkbp8 |
A |
G |
8: 70,984,195 (GRCm39) |
H182R |
probably benign |
Het |
Gab2 |
T |
C |
7: 96,953,445 (GRCm39) |
L606P |
probably damaging |
Het |
Gls |
C |
T |
1: 52,207,568 (GRCm39) |
|
probably null |
Het |
Hook3 |
A |
T |
8: 26,562,393 (GRCm39) |
M224K |
possibly damaging |
Het |
Itga5 |
T |
A |
15: 103,264,376 (GRCm39) |
K298* |
probably null |
Het |
Itprid2 |
G |
A |
2: 79,481,762 (GRCm39) |
V481M |
possibly damaging |
Het |
Lrrc74a |
C |
A |
12: 86,808,488 (GRCm39) |
T422K |
probably benign |
Het |
Myh9 |
A |
C |
15: 77,675,953 (GRCm39) |
D244E |
probably benign |
Het |
Ndrg4 |
A |
G |
8: 96,439,947 (GRCm39) |
E349G |
probably damaging |
Het |
Or9m2 |
T |
A |
2: 87,820,513 (GRCm39) |
D19E |
probably benign |
Het |
Otop2 |
T |
C |
11: 115,217,769 (GRCm39) |
S202P |
probably benign |
Het |
Plppr2 |
C |
A |
9: 21,854,742 (GRCm39) |
R138S |
possibly damaging |
Het |
Prkaca |
A |
C |
8: 84,717,366 (GRCm39) |
K206N |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,370,666 (GRCm39) |
T589I |
possibly damaging |
Het |
Ptprq |
A |
G |
10: 107,401,700 (GRCm39) |
|
probably null |
Het |
Tcerg1 |
A |
G |
18: 42,707,620 (GRCm39) |
K1047E |
probably damaging |
Het |
Tinag |
T |
C |
9: 76,939,038 (GRCm39) |
K147E |
probably benign |
Het |
Urgcp |
T |
C |
11: 5,667,325 (GRCm39) |
T338A |
probably damaging |
Het |
Wdr74 |
C |
T |
19: 8,717,302 (GRCm39) |
R299C |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,765,892 (GRCm39) |
S1473L |
probably damaging |
Het |
|
Other mutations in Slc16a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R5548:Slc16a5
|
UTSW |
11 |
115,360,630 (GRCm39) |
missense |
probably benign |
0.32 |
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 |
|
Posted On |
2014-02-04 |