Incidental Mutation 'IGL01943:Slc16a3'
ID |
180916 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc16a3
|
Ensembl Gene |
ENSMUSG00000025161 |
Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 3 |
Synonyms |
monocarboxylate transporter 4, MCT3, MCT4 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01943
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
120839310-120849826 bp(+) (GRCm39) |
Type of Mutation |
splice site (4866 bp from exon) |
DNA Base Change (assembly) |
T to C
at 120847709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018274]
[ENSMUST00000070575]
[ENSMUST00000070653]
[ENSMUST00000100130]
[ENSMUST00000129473]
[ENSMUST00000133029]
[ENSMUST00000168579]
[ENSMUST00000154187]
|
AlphaFold |
P57787 |
Predicted Effect |
probably null
Transcript: ENSMUST00000018274
|
SMART Domains |
Protein: ENSMUSP00000018274 Gene: ENSMUSG00000025162
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
9 |
273 |
3.7e-18 |
PFAM |
Pfam:Pkinase
|
9 |
277 |
1.8e-28 |
PFAM |
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000070575
|
SMART Domains |
Protein: ENSMUSP00000070721 Gene: ENSMUSG00000025162
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
9 |
273 |
1.6e-18 |
PFAM |
Pfam:Pkinase
|
9 |
280 |
2.8e-41 |
PFAM |
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070653
AA Change: V299A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000068854 Gene: ENSMUSG00000025161 AA Change: V299A
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
25 |
375 |
6.3e-32 |
PFAM |
transmembrane domain
|
390 |
412 |
N/A |
INTRINSIC |
low complexity region
|
420 |
432 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100130
AA Change: V299A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000097706 Gene: ENSMUSG00000025161 AA Change: V299A
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
25 |
375 |
6.3e-32 |
PFAM |
transmembrane domain
|
390 |
412 |
N/A |
INTRINSIC |
low complexity region
|
420 |
432 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129473
|
SMART Domains |
Protein: ENSMUSP00000117275 Gene: ENSMUSG00000025161
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
25 |
290 |
5.9e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133029
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168579
AA Change: V299A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000125846 Gene: ENSMUSG00000025161 AA Change: V299A
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
25 |
375 |
8.3e-32 |
PFAM |
transmembrane domain
|
390 |
412 |
N/A |
INTRINSIC |
low complexity region
|
420 |
432 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140467
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134540
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154187
|
SMART Domains |
Protein: ENSMUSP00000122784 Gene: ENSMUSG00000025161
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
25 |
253 |
3.7e-24 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lactic acid and pyruvate transport across plasma membranes is catalyzed by members of the proton-linked monocarboxylate transporter (MCT) family, which has been designated solute carrier family-16. Each MCT appears to have slightly different substrate and inhibitor specificities and transport kinetics, which are related to the metabolic requirements of the tissues in which it is found. The MCTs, which include MCT1 (SLC16A1; MIM 600682) and MCT2 (SLC16A7; MIM 603654), are characterized by 12 predicted transmembrane domains (Price et al., 1998 [PubMed 9425115]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16a |
A |
G |
17: 35,315,459 (GRCm39) |
K169E |
probably benign |
Het |
Ago4 |
A |
G |
4: 126,410,988 (GRCm39) |
V167A |
probably damaging |
Het |
Bcam |
C |
T |
7: 19,499,423 (GRCm39) |
R200H |
probably damaging |
Het |
Cblb |
G |
A |
16: 51,959,996 (GRCm39) |
|
probably null |
Het |
Cdc37 |
T |
C |
9: 21,054,409 (GRCm39) |
E72G |
probably benign |
Het |
Chek2 |
T |
A |
5: 110,989,093 (GRCm39) |
|
probably benign |
Het |
Col6a1 |
A |
T |
10: 76,554,957 (GRCm39) |
|
probably null |
Het |
Col7a1 |
A |
G |
9: 108,813,084 (GRCm39) |
|
probably null |
Het |
Ecpas |
A |
G |
4: 58,849,937 (GRCm39) |
F429L |
possibly damaging |
Het |
Fmo3 |
C |
T |
1: 162,794,575 (GRCm39) |
R165H |
probably benign |
Het |
Gm2663 |
C |
T |
6: 40,973,010 (GRCm39) |
G199D |
probably damaging |
Het |
Gm8108 |
T |
C |
14: 4,127,217 (GRCm38) |
S134P |
probably damaging |
Het |
Kif1b |
A |
T |
4: 149,299,362 (GRCm39) |
|
probably null |
Het |
Krt76 |
T |
A |
15: 101,797,480 (GRCm39) |
D293V |
probably null |
Het |
Lifr |
T |
A |
15: 7,217,630 (GRCm39) |
C853S |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,415,234 (GRCm39) |
I2727F |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,714,854 (GRCm39) |
K1606R |
possibly damaging |
Het |
Noxred1 |
G |
T |
12: 87,269,955 (GRCm39) |
Q259K |
probably benign |
Het |
Obox3 |
C |
T |
7: 15,360,777 (GRCm39) |
E121K |
probably benign |
Het |
Or14j1 |
G |
A |
17: 38,145,944 (GRCm39) |
R18H |
probably benign |
Het |
Or1j19 |
T |
C |
2: 36,677,095 (GRCm39) |
I186T |
probably benign |
Het |
Or2y16 |
T |
A |
11: 49,335,015 (GRCm39) |
C112* |
probably null |
Het |
Or5b24 |
T |
C |
19: 12,913,038 (GRCm39) |
L312S |
probably benign |
Het |
Phf11 |
A |
T |
14: 59,488,611 (GRCm39) |
V62E |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,550,089 (GRCm39) |
F245L |
probably damaging |
Het |
Pla2g6 |
T |
C |
15: 79,197,316 (GRCm39) |
Q86R |
probably null |
Het |
Polq |
T |
A |
16: 36,881,805 (GRCm39) |
I1044K |
possibly damaging |
Het |
Pomgnt2 |
G |
T |
9: 121,811,536 (GRCm39) |
T415N |
probably benign |
Het |
Pprc1 |
T |
A |
19: 46,052,983 (GRCm39) |
|
probably benign |
Het |
Prol1 |
T |
A |
5: 88,475,820 (GRCm39) |
M70K |
probably benign |
Het |
Ptpn22 |
T |
A |
3: 103,793,652 (GRCm39) |
V601E |
probably benign |
Het |
Slco1b2 |
A |
G |
6: 141,622,012 (GRCm39) |
D489G |
possibly damaging |
Het |
Sphk2 |
T |
C |
7: 45,360,148 (GRCm39) |
|
probably benign |
Het |
Stat4 |
C |
T |
1: 52,136,014 (GRCm39) |
T441I |
possibly damaging |
Het |
Tle1 |
A |
T |
4: 72,040,639 (GRCm39) |
V647E |
probably damaging |
Het |
Tnrc6b |
C |
A |
15: 80,811,896 (GRCm39) |
Y814* |
probably null |
Het |
Tubgcp3 |
A |
G |
8: 12,704,301 (GRCm39) |
F256S |
probably damaging |
Het |
Uqcrb |
A |
T |
13: 67,050,827 (GRCm39) |
|
probably null |
Het |
Vmn1r200 |
A |
T |
13: 22,580,097 (GRCm39) |
E300V |
possibly damaging |
Het |
Zfp324 |
C |
T |
7: 12,702,713 (GRCm39) |
|
probably benign |
Het |
Zxdc |
T |
C |
6: 90,349,520 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Slc16a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01662:Slc16a3
|
APN |
11 |
120,847,532 (GRCm39) |
nonsense |
probably null |
|
IGL01967:Slc16a3
|
APN |
11 |
120,847,864 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01970:Slc16a3
|
APN |
11 |
120,847,864 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02189:Slc16a3
|
APN |
11 |
120,847,597 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4131001:Slc16a3
|
UTSW |
11 |
120,846,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Slc16a3
|
UTSW |
11 |
120,847,531 (GRCm39) |
missense |
probably benign |
0.00 |
R0466:Slc16a3
|
UTSW |
11 |
120,848,878 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3967:Slc16a3
|
UTSW |
11 |
120,846,251 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4471:Slc16a3
|
UTSW |
11 |
120,846,774 (GRCm39) |
splice site |
probably benign |
|
R4913:Slc16a3
|
UTSW |
11 |
120,848,794 (GRCm39) |
missense |
probably benign |
|
R5826:Slc16a3
|
UTSW |
11 |
120,847,756 (GRCm39) |
missense |
probably benign |
|
R5863:Slc16a3
|
UTSW |
11 |
120,848,779 (GRCm39) |
missense |
probably benign |
|
R6019:Slc16a3
|
UTSW |
11 |
120,847,931 (GRCm39) |
splice site |
probably null |
|
R7503:Slc16a3
|
UTSW |
11 |
120,847,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R9679:Slc16a3
|
UTSW |
11 |
120,847,223 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Slc16a3
|
UTSW |
11 |
120,847,528 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2014-05-07 |