Incidental Mutation 'IGL02294:Slc16a4'
| ID |
290132 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc16a4
|
| Ensembl Gene |
ENSMUSG00000027896 |
| Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02294
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
107198546-107219431 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107208384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 298
(I298T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029502]
[ENSMUST00000106723]
|
| AlphaFold |
Q8R0M8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029502
AA Change: I298T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: I298T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
27 |
373 |
8.2e-26 |
PFAM |
|
Pfam:MFS_1
|
305 |
499 |
2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106723
AA Change: I298T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: I298T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
27 |
375 |
2.1e-28 |
PFAM |
|
Pfam:MFS_1
|
327 |
462 |
3.6e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153322
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
G |
18: 65,439,146 (GRCm39) |
V749A |
possibly damaging |
Het |
| Col6a4 |
T |
C |
9: 105,943,931 (GRCm39) |
D1181G |
probably benign |
Het |
| Crb1 |
A |
G |
1: 139,162,520 (GRCm39) |
S1213P |
possibly damaging |
Het |
| D430041D05Rik |
A |
T |
2: 104,085,351 (GRCm39) |
M1066K |
probably benign |
Het |
| Fasn |
G |
T |
11: 120,701,102 (GRCm39) |
T1999N |
probably damaging |
Het |
| Flg2 |
C |
T |
3: 93,111,053 (GRCm39) |
A1027V |
unknown |
Het |
| Gbp5 |
T |
A |
3: 142,209,588 (GRCm39) |
V178E |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,909,929 (GRCm39) |
D445G |
probably benign |
Het |
| Hps3 |
T |
C |
3: 20,068,212 (GRCm39) |
E482G |
probably damaging |
Het |
| Impdh1 |
G |
A |
6: 29,205,201 (GRCm39) |
A200V |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,099,537 (GRCm39) |
Y134C |
probably damaging |
Het |
| Ly6g |
T |
A |
15: 75,030,413 (GRCm39) |
I77N |
possibly damaging |
Het |
| Oprk1 |
T |
G |
1: 5,672,610 (GRCm39) |
M249R |
probably damaging |
Het |
| Or5ac21 |
T |
C |
16: 59,123,975 (GRCm39) |
L153P |
probably damaging |
Het |
| Or5h17 |
T |
C |
16: 58,820,428 (GRCm39) |
C127R |
probably damaging |
Het |
| Otud4 |
A |
G |
8: 80,391,606 (GRCm39) |
|
probably benign |
Het |
| Sox21 |
A |
G |
14: 118,472,950 (GRCm39) |
M33T |
probably benign |
Het |
| Speer4a1 |
T |
A |
5: 26,243,240 (GRCm39) |
T82S |
probably benign |
Het |
| Stard13 |
T |
C |
5: 150,986,580 (GRCm39) |
D310G |
probably benign |
Het |
| Trpm6 |
C |
A |
19: 18,831,427 (GRCm39) |
Q1431K |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,259,281 (GRCm39) |
K446* |
probably null |
Het |
| Vmn2r19 |
A |
G |
6: 123,306,937 (GRCm39) |
T482A |
probably benign |
Het |
|
| Other mutations in Slc16a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01065:Slc16a4
|
APN |
3 |
107,210,416 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01311:Slc16a4
|
APN |
3 |
107,199,821 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01509:Slc16a4
|
APN |
3 |
107,218,750 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01780:Slc16a4
|
APN |
3 |
107,210,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02350:Slc16a4
|
APN |
3 |
107,210,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02357:Slc16a4
|
APN |
3 |
107,210,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02792:Slc16a4
|
APN |
3 |
107,206,193 (GRCm39) |
missense |
probably benign |
|
|
IGL02873:Slc16a4
|
APN |
3 |
107,208,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03001:Slc16a4
|
APN |
3 |
107,218,858 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03002:Slc16a4
|
APN |
3 |
107,208,102 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0370:Slc16a4
|
UTSW |
3 |
107,208,413 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0525:Slc16a4
|
UTSW |
3 |
107,205,255 (GRCm39) |
splice site |
probably benign |
|
|
R1192:Slc16a4
|
UTSW |
3 |
107,206,189 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1458:Slc16a4
|
UTSW |
3 |
107,208,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1939:Slc16a4
|
UTSW |
3 |
107,208,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2061:Slc16a4
|
UTSW |
3 |
107,208,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2098:Slc16a4
|
UTSW |
3 |
107,208,163 (GRCm39) |
nonsense |
probably null |
|
|
R2102:Slc16a4
|
UTSW |
3 |
107,211,819 (GRCm39) |
splice site |
probably null |
|
|
R3411:Slc16a4
|
UTSW |
3 |
107,208,188 (GRCm39) |
missense |
probably benign |
|
|
R4983:Slc16a4
|
UTSW |
3 |
107,208,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5394:Slc16a4
|
UTSW |
3 |
107,199,758 (GRCm39) |
missense |
probably benign |
|
|
R5804:Slc16a4
|
UTSW |
3 |
107,206,280 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6077:Slc16a4
|
UTSW |
3 |
107,208,381 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6626:Slc16a4
|
UTSW |
3 |
107,208,512 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6693:Slc16a4
|
UTSW |
3 |
107,210,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6811:Slc16a4
|
UTSW |
3 |
107,206,233 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6823:Slc16a4
|
UTSW |
3 |
107,218,814 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6982:Slc16a4
|
UTSW |
3 |
107,206,589 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7050:Slc16a4
|
UTSW |
3 |
107,208,148 (GRCm39) |
missense |
probably benign |
|
|
R7103:Slc16a4
|
UTSW |
3 |
107,218,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7608:Slc16a4
|
UTSW |
3 |
107,210,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7623:Slc16a4
|
UTSW |
3 |
107,205,297 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8013:Slc16a4
|
UTSW |
3 |
107,218,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8014:Slc16a4
|
UTSW |
3 |
107,218,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8713:Slc16a4
|
UTSW |
3 |
107,218,901 (GRCm39) |
makesense |
probably null |
|
|
R8876:Slc16a4
|
UTSW |
3 |
107,208,101 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9266:Slc16a4
|
UTSW |
3 |
107,199,788 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9661:Slc16a4
|
UTSW |
3 |
107,213,359 (GRCm39) |
missense |
probably benign |
|
|
X0018:Slc16a4
|
UTSW |
3 |
107,208,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation