Incidental Mutation 'IGL02873:Slc16a4'
| ID |
362600 |
| 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 # |
IGL02873
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
107198546-107219431 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107208111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 207
(D207G)
|
| 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: D207G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: D207G
| 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: D207G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: D207G
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
A |
T |
7: 50,249,431 (GRCm39) |
H155L |
probably damaging |
Het |
| 5830462I19Rik |
G |
A |
9: 110,203,446 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
T |
A |
5: 3,822,619 (GRCm39) |
Q29L |
probably damaging |
Het |
| Arid5b |
A |
T |
10: 67,937,780 (GRCm39) |
M449K |
probably benign |
Het |
| Atp1a1 |
A |
G |
3: 101,483,894 (GRCm39) |
V1017A |
probably benign |
Het |
| Cfap52 |
G |
T |
11: 67,822,608 (GRCm39) |
T421K |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,459,970 (GRCm39) |
I780N |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,299,181 (GRCm39) |
D3164G |
probably benign |
Het |
| Cyp4f37 |
A |
T |
17: 32,844,142 (GRCm39) |
Q82L |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,830,700 (GRCm39) |
D265V |
probably benign |
Het |
| Gm14393 |
T |
C |
2: 174,903,595 (GRCm39) |
D104G |
possibly damaging |
Het |
| Gpat2 |
T |
C |
2: 127,273,675 (GRCm39) |
V271A |
probably benign |
Het |
| Ifna4 |
T |
C |
4: 88,760,423 (GRCm39) |
F109S |
probably damaging |
Het |
| Il27ra |
T |
C |
8: 84,758,164 (GRCm39) |
S529G |
probably benign |
Het |
| Jag2 |
A |
G |
12: 112,874,122 (GRCm39) |
L1011P |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,356,507 (GRCm39) |
L728P |
probably damaging |
Het |
| Klhl21 |
T |
C |
4: 152,099,817 (GRCm39) |
V509A |
probably benign |
Het |
| Map2k4 |
T |
A |
11: 65,610,400 (GRCm39) |
N92I |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,374,308 (GRCm39) |
D1288V |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,159,217 (GRCm39) |
V151A |
probably benign |
Het |
| Or5g25 |
C |
A |
2: 85,478,096 (GRCm39) |
A190S |
possibly damaging |
Het |
| Paip1 |
T |
A |
13: 119,582,348 (GRCm39) |
F275L |
possibly damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,936,937 (GRCm39) |
D1624G |
probably damaging |
Het |
| Ppwd1 |
C |
A |
13: 104,346,261 (GRCm39) |
D465Y |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,228,538 (GRCm39) |
L528P |
probably damaging |
Het |
| Rftn1 |
A |
C |
17: 50,476,180 (GRCm39) |
|
probably benign |
Het |
| Scn1b |
T |
A |
7: 30,817,182 (GRCm39) |
Y180F |
probably damaging |
Het |
| Slc2a3 |
T |
C |
6: 122,717,373 (GRCm39) |
T28A |
probably damaging |
Het |
| Slc47a1 |
G |
A |
11: 61,253,643 (GRCm39) |
|
probably benign |
Het |
| Spata1 |
A |
T |
3: 146,193,122 (GRCm39) |
V123D |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,544,288 (GRCm39) |
V4469A |
probably damaging |
Het |
| Trmu |
T |
A |
15: 85,781,033 (GRCm39) |
|
probably null |
Het |
| Trrap |
T |
A |
5: 144,777,889 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,726,475 (GRCm39) |
|
probably benign |
Het |
| Tubgcp6 |
T |
C |
15: 88,988,027 (GRCm39) |
D974G |
probably benign |
Het |
| Tyw1 |
C |
T |
5: 130,364,171 (GRCm39) |
R621C |
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,513,058 (GRCm39) |
|
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,781,848 (GRCm39) |
K305E |
probably benign |
Het |
| Zfp692 |
C |
T |
11: 58,199,765 (GRCm39) |
T118M |
probably damaging |
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 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation