Incidental Mutation 'IGL02350:Slc16a4'
ID 289752
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) question?
Stock # IGL02350
Quality Score
Status
Chromosome 3
Chromosomal Location 107198546-107219431 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107210415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 362 (I362V)
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: I362V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: I362V

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: I362V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: I362V

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A G 8: 71,914,121 (GRCm39) V169A probably benign Het
Adamts16 T A 13: 70,886,704 (GRCm39) T1029S probably benign Het
Adgrv1 C A 13: 81,418,974 (GRCm39) C6007F probably benign Het
Ak8 A T 2: 28,590,225 (GRCm39) H8L probably benign Het
Apol7b A G 15: 77,307,832 (GRCm39) V221A probably benign Het
BC005624 G A 2: 30,863,779 (GRCm39) P235S probably benign Het
Cd96 A G 16: 45,890,139 (GRCm39) probably benign Het
Celf1 A T 2: 90,828,933 (GRCm39) K27I probably damaging Het
Cfap65 A T 1: 74,967,507 (GRCm39) C190* probably null Het
Cib2 A T 9: 54,457,170 (GRCm39) H31Q probably damaging Het
Cyp3a59 T C 5: 146,016,152 (GRCm39) L3P probably damaging Het
Dnajc13 T C 9: 104,039,558 (GRCm39) M2104V possibly damaging Het
Dph3b-ps A G 13: 106,683,453 (GRCm39) noncoding transcript Het
Emb A G 13: 117,386,007 (GRCm39) probably benign Het
Fbn2 G T 18: 58,237,067 (GRCm39) N645K possibly damaging Het
Fes T C 7: 80,033,578 (GRCm39) probably null Het
Flnc A T 6: 29,438,492 (GRCm39) K129* probably null Het
Gckr C A 5: 31,465,134 (GRCm39) H368N possibly damaging Het
Gm5145 A T 17: 20,790,702 (GRCm39) I27F probably damaging Het
Hecw1 A G 13: 14,422,923 (GRCm39) probably null Het
Hivep3 T G 4: 119,980,222 (GRCm39) C1753W probably damaging Het
Hook2 C T 8: 85,721,614 (GRCm39) Q291* probably null Het
Jakmip2 T C 18: 43,680,192 (GRCm39) T722A possibly damaging Het
Kcnt2 A G 1: 140,279,007 (GRCm39) I53V probably benign Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Mrc2 A G 11: 105,216,547 (GRCm39) D112G probably damaging Het
Mroh2b A G 15: 4,941,482 (GRCm39) N338S probably benign Het
Mrpl23 T A 7: 142,089,802 (GRCm39) probably benign Het
Myo18a A G 11: 77,741,073 (GRCm39) N1442S probably benign Het
Ngdn T A 14: 55,259,393 (GRCm39) V179E probably damaging Het
Nxn A G 11: 76,165,480 (GRCm39) probably benign Het
Or10am5 T A 7: 6,518,225 (GRCm39) M68L probably damaging Het
Or2b7 A G 13: 21,739,772 (GRCm39) L140P probably damaging Het
Osmr A T 15: 6,858,144 (GRCm39) N441K probably benign Het
Plcb3 A C 19: 6,935,546 (GRCm39) L789R probably damaging Het
Plek C T 11: 16,931,846 (GRCm39) R335H probably damaging Het
Pmp22 G T 11: 63,049,134 (GRCm39) V126F probably benign Het
Prom1 A G 5: 44,186,946 (GRCm39) probably benign Het
Prss1 C A 6: 41,440,139 (GRCm39) Q159K probably damaging Het
Psd3 G T 8: 68,416,521 (GRCm39) H459N probably benign Het
Rusc2 T G 4: 43,425,351 (GRCm39) V1152G possibly damaging Het
Slc22a22 A G 15: 57,110,844 (GRCm39) V461A probably benign Het
Slc35e4 C T 11: 3,862,640 (GRCm39) R183Q probably benign Het
Spen T C 4: 141,204,890 (GRCm39) T1246A unknown Het
Syt16 T C 12: 74,313,616 (GRCm39) V514A probably benign Het
Tdpoz2 A G 3: 93,559,735 (GRCm39) V79A possibly damaging Het
Ttn A G 2: 76,539,963 (GRCm39) V34341A probably benign Het
Vxn T C 1: 9,683,544 (GRCm39) I44T possibly damaging Het
Wwox T C 8: 115,438,882 (GRCm39) V316A possibly damaging Het
Other mutations in Slc16a4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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