Incidental Mutation 'IGL02190:Slc16a5'
ID |
283841 |
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 # |
IGL02190
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115353300-115365224 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to G
at 115353435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092445]
[ENSMUST00000106532]
[ENSMUST00000153466]
|
AlphaFold |
G5E8K6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000092445
AA Change: M1V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000090102 Gene: ENSMUSG00000045775 AA Change: M1V
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 null
Transcript: ENSMUST00000106532
AA Change: M1V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102142 Gene: ENSMUSG00000045775 AA Change: M1V
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 |
probably null
Transcript: ENSMUST00000153466
AA Change: M1V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117727 Gene: ENSMUSG00000045775 AA Change: M1V
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: ENSMUST00000146500
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrd1 |
T |
C |
5: 129,217,788 (GRCm39) |
|
probably benign |
Het |
Ano1 |
T |
C |
7: 144,172,620 (GRCm39) |
E521G |
probably benign |
Het |
As3mt |
A |
T |
19: 46,708,384 (GRCm39) |
I224F |
probably benign |
Het |
Atp5mf |
C |
A |
5: 145,120,642 (GRCm39) |
|
probably benign |
Het |
Cacna1h |
A |
G |
17: 25,652,000 (GRCm39) |
V48A |
probably benign |
Het |
Ctu2 |
T |
C |
8: 123,208,397 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
T |
4: 58,800,190 (GRCm39) |
S1838R |
probably benign |
Het |
Efcab5 |
T |
C |
11: 77,012,140 (GRCm39) |
R841G |
probably benign |
Het |
Erbb3 |
A |
T |
10: 128,406,879 (GRCm39) |
|
probably null |
Het |
Fkbp15 |
G |
T |
4: 62,223,059 (GRCm39) |
P947T |
possibly damaging |
Het |
Gabpb1 |
A |
G |
2: 126,495,469 (GRCm39) |
|
probably benign |
Het |
Gcn1 |
G |
T |
5: 115,752,183 (GRCm39) |
V2100L |
probably damaging |
Het |
Gemin5 |
A |
C |
11: 58,025,668 (GRCm39) |
V977G |
probably damaging |
Het |
Gpr107 |
T |
A |
2: 31,068,332 (GRCm39) |
Y265N |
probably damaging |
Het |
Gpx8 |
T |
C |
13: 113,179,843 (GRCm39) |
|
probably benign |
Het |
H2-Eb2 |
A |
T |
17: 34,553,348 (GRCm39) |
N178I |
probably damaging |
Het |
Ift172 |
C |
T |
5: 31,411,802 (GRCm39) |
V1587I |
possibly damaging |
Het |
Lrrc45 |
A |
G |
11: 120,609,334 (GRCm39) |
T398A |
probably damaging |
Het |
Mmrn1 |
G |
T |
6: 60,964,177 (GRCm39) |
V1059L |
probably benign |
Het |
Morn5 |
A |
G |
2: 35,969,527 (GRCm39) |
D147G |
probably benign |
Het |
Mphosph9 |
T |
C |
5: 124,403,488 (GRCm39) |
R847G |
possibly damaging |
Het |
Nutm1 |
C |
T |
2: 112,079,751 (GRCm39) |
W721* |
probably null |
Het |
Or1j18 |
T |
C |
2: 36,624,591 (GRCm39) |
L86P |
probably benign |
Het |
Or2j6 |
T |
C |
7: 139,980,033 (GRCm39) |
|
probably benign |
Het |
Or5w13 |
A |
G |
2: 87,523,407 (GRCm39) |
M273T |
probably benign |
Het |
Rgl3 |
A |
G |
9: 21,893,004 (GRCm39) |
F227L |
probably benign |
Het |
Ropn1l |
G |
T |
15: 31,443,487 (GRCm39) |
L182I |
probably benign |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Scgb1a1 |
A |
T |
19: 9,065,231 (GRCm39) |
L12Q |
probably damaging |
Het |
Scp2 |
A |
G |
4: 107,944,325 (GRCm39) |
S237P |
probably benign |
Het |
Skint5 |
T |
C |
4: 113,797,962 (GRCm39) |
Q207R |
possibly damaging |
Het |
Tox2 |
G |
A |
2: 163,164,926 (GRCm39) |
R522H |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,743,791 (GRCm39) |
N505K |
probably damaging |
Het |
Tuba1c |
G |
A |
15: 98,935,870 (GRCm39) |
D444N |
unknown |
Het |
Vmn1r174 |
A |
G |
7: 23,454,252 (GRCm39) |
E306G |
unknown |
Het |
Vmn2r111 |
A |
T |
17: 22,789,754 (GRCm39) |
F417L |
probably benign |
Het |
Vmn2r15 |
A |
T |
5: 109,441,240 (GRCm39) |
M206K |
probably damaging |
Het |
Vmn2r95 |
G |
T |
17: 18,672,038 (GRCm39) |
A592S |
probably benign |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
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 |
2015-04-16 |