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
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02873
Quality Score
Status
Chromosome 3
Chromosomal Location 107291230-107312115 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107300795 bp (GRCm38)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,327,040 L528P probably damaging Het
4933405O20Rik A T 7: 50,599,683 H155L probably damaging Het
5830462I19Rik G A 9: 110,374,378 probably benign Het
Ankib1 T A 5: 3,772,619 Q29L probably damaging Het
Arid5b A T 10: 68,101,950 M449K probably benign Het
Atp1a1 A G 3: 101,576,578 V1017A probably benign Het
Cfap52 G T 11: 67,931,782 T421K probably damaging Het
Chd8 A T 14: 52,222,513 I780N probably damaging Het
Cubn T C 2: 13,294,370 D3164G probably benign Het
Cyp4f37 A T 17: 32,625,168 Q82L probably benign Het
Eml6 T A 11: 29,880,700 D265V probably benign Het
Gm14393 T C 2: 175,061,802 D104G possibly damaging Het
Gpat2 T C 2: 127,431,755 V271A probably benign Het
Ifna4 T C 4: 88,842,186 F109S probably damaging Het
Il27ra T C 8: 84,031,535 S529G probably benign Het
Jag2 A G 12: 112,910,502 L1011P probably benign Het
Kif7 A G 7: 79,706,759 L728P probably damaging Het
Klhl21 T C 4: 152,015,360 V509A probably benign Het
Map2k4 T A 11: 65,719,574 N92I probably damaging Het
Myo15 A T 11: 60,483,482 D1288V probably damaging Het
Olfr1002 C A 2: 85,647,752 A190S possibly damaging Het
Olfr1281 T C 2: 111,328,872 V151A probably benign Het
Paip1 T A 13: 119,445,812 F275L possibly damaging Het
Plxnd1 T C 6: 115,959,976 D1624G probably damaging Het
Ppwd1 C A 13: 104,209,753 D465Y probably damaging Het
Rftn1 A C 17: 50,169,152 probably benign Het
Scn1b T A 7: 31,117,757 Y180F probably damaging Het
Slc2a3 T C 6: 122,740,414 T28A probably damaging Het
Slc47a1 G A 11: 61,362,817 probably benign Het
Spata1 A T 3: 146,487,367 V123D possibly damaging Het
Stard9 T C 2: 120,713,807 V4469A probably damaging Het
Trmu T A 15: 85,896,832 probably null Het
Trrap T A 5: 144,841,079 probably benign Het
Ttn T C 2: 76,896,131 probably benign Het
Tubgcp6 T C 15: 89,103,824 D974G probably benign Het
Tyw1 C T 5: 130,335,330 R621C probably benign Het
Usp7 A T 16: 8,695,194 probably benign Het
Zfp39 T C 11: 58,891,022 K305E probably benign Het
Zfp692 C T 11: 58,308,939 T118M probably damaging Het
Other mutations in Slc16a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Slc16a4 APN 3 107303100 missense possibly damaging 0.67
IGL01311:Slc16a4 APN 3 107292505 missense possibly damaging 0.83
IGL01509:Slc16a4 APN 3 107311434 critical splice acceptor site probably null
IGL01780:Slc16a4 APN 3 107303099 missense probably benign 0.00
IGL02294:Slc16a4 APN 3 107301068 missense probably benign 0.00
IGL02350:Slc16a4 APN 3 107303099 missense probably benign 0.00
IGL02357:Slc16a4 APN 3 107303099 missense probably benign 0.00
IGL02792:Slc16a4 APN 3 107298877 missense probably benign
IGL03001:Slc16a4 APN 3 107311542 missense possibly damaging 0.91
IGL03002:Slc16a4 APN 3 107300786 missense probably benign 0.07
R0370:Slc16a4 UTSW 3 107301097 missense possibly damaging 0.66
R0525:Slc16a4 UTSW 3 107297939 splice site probably benign
R1192:Slc16a4 UTSW 3 107298873 missense probably benign 0.07
R1458:Slc16a4 UTSW 3 107300932 missense probably benign 0.00
R1939:Slc16a4 UTSW 3 107301001 missense probably benign 0.00
R2061:Slc16a4 UTSW 3 107300711 missense probably benign 0.00
R2098:Slc16a4 UTSW 3 107300847 nonsense probably null
R2102:Slc16a4 UTSW 3 107304503 splice site probably null
R3411:Slc16a4 UTSW 3 107300872 missense probably benign
R4983:Slc16a4 UTSW 3 107300860 missense probably benign 0.00
R5394:Slc16a4 UTSW 3 107292442 missense probably benign
R5804:Slc16a4 UTSW 3 107298964 missense probably benign 0.04
R6077:Slc16a4 UTSW 3 107301065 missense possibly damaging 0.91
R6626:Slc16a4 UTSW 3 107301196 missense possibly damaging 0.95
R6693:Slc16a4 UTSW 3 107303064 missense probably damaging 1.00
R6811:Slc16a4 UTSW 3 107298917 missense probably benign 0.06
R6823:Slc16a4 UTSW 3 107311498 missense probably benign 0.02
R6982:Slc16a4 UTSW 3 107299273 missense probably benign 0.01
R7050:Slc16a4 UTSW 3 107300832 missense probably benign
R7103:Slc16a4 UTSW 3 107311471 missense probably damaging 1.00
R7608:Slc16a4 UTSW 3 107303127 missense probably damaging 1.00
R7623:Slc16a4 UTSW 3 107297981 missense possibly damaging 0.71
R8013:Slc16a4 UTSW 3 107311478 missense probably damaging 1.00
R8014:Slc16a4 UTSW 3 107311478 missense probably damaging 1.00
R8713:Slc16a4 UTSW 3 107311585 makesense probably null
R8876:Slc16a4 UTSW 3 107300785 missense probably benign 0.12
R9266:Slc16a4 UTSW 3 107292472 missense probably benign 0.10
X0018:Slc16a4 UTSW 3 107300815 missense probably benign 0.01
Posted On 2015-12-18