Incidental Mutation 'R3967:Slc16a3'
| ID |
312408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc16a3
|
| Ensembl Gene |
ENSMUSG00000025161 |
| Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 3 |
| Synonyms |
monocarboxylate transporter 4, MCT3, MCT4 |
| MMRRC Submission |
040838-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3967 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120839310-120849826 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120846251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 60
(T60M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070653]
[ENSMUST00000100130]
[ENSMUST00000129473]
[ENSMUST00000133029]
[ENSMUST00000154187]
[ENSMUST00000168579]
|
| AlphaFold |
P57787 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070653
AA Change: T60M
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000068854
Gene: ENSMUSG00000025161
AA Change: T60M
| 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 |
possibly damaging
Transcript: ENSMUST00000100130
AA Change: T60M
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097706
Gene: ENSMUSG00000025161
AA Change: T60M
| 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
AA Change: T60M
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117275
Gene: ENSMUSG00000025161
AA Change: T60M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
25 |
290 |
5.9e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140467
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154187
AA Change: T60M
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122784
Gene: ENSMUSG00000025161
AA Change: T60M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
25 |
253 |
3.7e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168579
AA Change: T60M
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125846
Gene: ENSMUSG00000025161
AA Change: T60M
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (44/44) |
| 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 |
|---|
| 1700018B08Rik |
G |
T |
8: 122,266,719 (GRCm39) |
Q56K |
possibly damaging |
Het |
| Adam18 |
C |
A |
8: 25,119,726 (GRCm39) |
V518L |
probably benign |
Het |
| Akap6 |
A |
T |
12: 53,188,236 (GRCm39) |
K1883N |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Ctnnd2 |
C |
A |
15: 30,647,075 (GRCm39) |
A257E |
possibly damaging |
Het |
| Depdc5 |
T |
A |
5: 33,101,459 (GRCm39) |
C322* |
probably null |
Het |
| Enpp7 |
T |
C |
11: 118,881,827 (GRCm39) |
I324T |
probably damaging |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| Gm6871 |
A |
T |
7: 41,196,148 (GRCm39) |
H196Q |
probably damaging |
Het |
| Gm9964 |
T |
C |
11: 79,187,202 (GRCm39) |
T82A |
unknown |
Het |
| Gria2 |
T |
A |
3: 80,618,084 (GRCm39) |
Q317L |
possibly damaging |
Het |
| Grtp1 |
G |
A |
8: 13,239,705 (GRCm39) |
T134I |
probably benign |
Het |
| Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
| Kbtbd12 |
A |
G |
6: 88,595,488 (GRCm39) |
V114A |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Myof |
C |
T |
19: 37,889,711 (GRCm39) |
V1287M |
probably damaging |
Het |
| Myof |
T |
G |
19: 38,011,058 (GRCm39) |
D60A |
possibly damaging |
Het |
| Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Or10a3m |
A |
G |
7: 108,313,060 (GRCm39) |
M155V |
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,018,995 (GRCm39) |
F829L |
possibly damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Pkn2 |
A |
G |
3: 142,515,438 (GRCm39) |
C658R |
probably damaging |
Het |
| Psd |
C |
T |
19: 46,312,845 (GRCm39) |
R175H |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
| Rnf39 |
C |
A |
17: 37,254,035 (GRCm39) |
T19K |
probably damaging |
Het |
| Slc26a4 |
G |
T |
12: 31,578,686 (GRCm39) |
H656N |
probably damaging |
Het |
| Slc27a1 |
A |
G |
8: 72,032,431 (GRCm39) |
E184G |
probably damaging |
Het |
| Smc6 |
T |
C |
12: 11,348,327 (GRCm39) |
V742A |
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,968,787 (GRCm39) |
V186D |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,057,315 (GRCm39) |
V491A |
probably damaging |
Het |
| Uri1 |
A |
G |
7: 37,664,927 (GRCm39) |
V253A |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,327,154 (GRCm39) |
N587K |
probably benign |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,647 (GRCm39) |
Y120F |
probably benign |
Het |
| Wwox |
G |
A |
8: 115,215,673 (GRCm39) |
A149T |
probably damaging |
Het |
| Zfp536 |
T |
C |
7: 37,173,255 (GRCm39) |
*282W |
probably null |
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 |
|
|
IGL01943:Slc16a3
|
APN |
11 |
120,847,709 (GRCm39) |
splice site |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCTCTCAGGTGAAAGCAGC -3'
(R):5'- ACTGCTTGTGGAACCTGAC -3'
Sequencing Primer
(F):5'- TCAGGTGAAAGCAGCCCTCC -3'
(R):5'- GATTTAACCCATTCGCCCA -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation