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: ENSMUST00000140739
|
| 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: 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 |
Incidental Mutation