Incidental Mutation 'IGL01509:Slc16a4'
| ID |
89155 |
| 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 # |
IGL01509
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
107198546-107219431 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to C
at 107218750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029502]
[ENSMUST00000029502]
[ENSMUST00000106723]
|
| AlphaFold |
Q8R0M8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029502
|
| SMART Domains |
Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
| 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 null
Transcript: ENSMUST00000029502
|
| SMART Domains |
Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
27 |
375 |
2.1e-28 |
PFAM |
|
Pfam:MFS_1
|
327 |
462 |
3.6e-11 |
PFAM |
|
| 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 |
|---|
| A4gnt |
T |
A |
9: 99,495,819 (GRCm39) |
I85N |
probably benign |
Het |
| Bbof1 |
T |
A |
12: 84,457,859 (GRCm39) |
N41K |
possibly damaging |
Het |
| Cdh10 |
A |
G |
15: 18,986,884 (GRCm39) |
K372E |
possibly damaging |
Het |
| Clmn |
T |
A |
12: 104,747,162 (GRCm39) |
Q795L |
probably benign |
Het |
| Dnai4 |
G |
A |
4: 102,929,884 (GRCm39) |
P369L |
possibly damaging |
Het |
| Enox1 |
T |
C |
14: 77,936,713 (GRCm39) |
S583P |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,485,382 (GRCm39) |
G4407S |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,313,142 (GRCm39) |
M109L |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,318,711 (GRCm39) |
M455T |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,617,332 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
A |
G |
7: 71,909,017 (GRCm39) |
S99P |
probably benign |
Het |
| Mrgprb2 |
G |
A |
7: 48,202,674 (GRCm39) |
T17M |
possibly damaging |
Het |
| Ogdhl |
T |
A |
14: 32,059,716 (GRCm39) |
M410K |
probably damaging |
Het |
| Pard3b |
A |
T |
1: 62,200,407 (GRCm39) |
R315S |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,117,645 (GRCm39) |
Q625R |
probably benign |
Het |
| Plxna3 |
A |
G |
X: 73,376,039 (GRCm39) |
Q355R |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,069,208 (GRCm39) |
F907I |
possibly damaging |
Het |
| Tasor |
T |
C |
14: 27,181,731 (GRCm39) |
|
probably benign |
Het |
| Vmn1r82 |
A |
T |
7: 12,039,096 (GRCm39) |
H123L |
probably damaging |
Het |
| Vmn2r1 |
T |
C |
3: 64,010,466 (GRCm39) |
I568T |
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,765,333 (GRCm39) |
V9M |
probably damaging |
Het |
| Zfp759 |
A |
G |
13: 67,287,658 (GRCm39) |
N403S |
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 |
|
IGL01780:Slc16a4
|
APN |
3 |
107,210,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02294:Slc16a4
|
APN |
3 |
107,208,384 (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 |
2013-12-03 |
Incidental Mutation