Incidental Mutation 'IGL03001:Slc16a4'
ID407352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc16a4
Ensembl Gene ENSMUSG00000027896
Gene Namesolute carrier family 16 (monocarboxylic acid transporters), member 4
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03001
Quality Score
Status
Chromosome3
Chromosomal Location107291230-107312115 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107311542 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 486 (R486S)
Ref Sequence ENSEMBL: ENSMUSP00000029502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029502] [ENSMUST00000106723]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029502
AA Change: R486S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: R486S

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
SMART Domains Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896

DomainStartEndE-ValueType
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik T C 5: 107,497,842 I9T probably damaging Het
Acan A C 7: 79,111,294 D1918A probably damaging Het
Ahcy C A 2: 155,064,828 D182Y probably damaging Het
Aldob T G 4: 49,542,844 D110A probably damaging Het
Alkbh8 A T 9: 3,344,602 M53L probably benign Het
Aqr T C 2: 114,146,919 D363G probably benign Het
Asxl3 A G 18: 22,517,398 R815G probably damaging Het
Atf4 T A 15: 80,256,657 W83R probably damaging Het
Baz1a A T 12: 54,923,111 M587K possibly damaging Het
Cactin T A 10: 81,325,734 I700N probably damaging Het
Catsperg2 T C 7: 29,725,079 S95G probably benign Het
Cbwd1 T C 19: 24,922,638 K301E probably benign Het
Cd1d1 C T 3: 86,998,161 S175N probably benign Het
Chd4 C A 6: 125,101,566 A217E possibly damaging Het
Cnbd2 T C 2: 156,333,634 probably null Het
Cntnap5c G A 17: 58,055,639 C329Y probably damaging Het
Col12a1 C T 9: 79,633,673 G2391R probably damaging Het
Col5a3 T A 9: 20,807,744 D238V unknown Het
Cuedc1 T C 11: 88,182,489 V160A probably benign Het
Depdc5 T C 5: 32,945,090 V342A possibly damaging Het
Dnah6 T C 6: 73,149,140 D1338G probably benign Het
Dpyd T C 3: 118,917,242 V433A probably benign Het
Epb41l5 T C 1: 119,617,644 H179R probably damaging Het
Fbf1 T C 11: 116,165,886 probably benign Het
Flnb T C 14: 7,934,680 S2251P probably damaging Het
Fsip2 A T 2: 82,990,624 probably benign Het
Grin2b C T 6: 135,739,115 V735M probably damaging Het
Itpr3 T G 17: 27,089,612 probably benign Het
Lingo4 C T 3: 94,402,396 R214C probably damaging Het
Lrp1b C T 2: 40,927,889 R2329H probably damaging Het
Lrrc47 T C 4: 154,015,993 L342P probably damaging Het
Mmp15 T C 8: 95,368,217 S240P probably damaging Het
Ndufaf4 T A 4: 24,901,747 N95K probably benign Het
Nms C T 1: 38,941,912 P60S probably benign Het
Npas3 A T 12: 53,501,192 Y77F probably damaging Het
Olfr1158 T A 2: 87,990,149 Y13N probably benign Het
Olfr1173 T A 2: 88,274,845 D68V probably damaging Het
Olfr1412 T A 1: 92,588,551 S74T probably damaging Het
Olfr320 T G 11: 58,683,876 M1R probably null Het
Olfr561 G T 7: 102,775,253 C243F probably damaging Het
Olfr926 A G 9: 38,878,078 M301V probably benign Het
Picalm T C 7: 90,182,246 V429A probably benign Het
Pkhd1l1 T A 15: 44,558,004 I3056N probably damaging Het
Pomt1 G T 2: 32,244,326 M286I probably benign Het
Popdc2 A T 16: 38,369,519 Y176F probably benign Het
Psg21 A T 7: 18,652,485 M192K probably benign Het
Psma1 C A 7: 114,266,439 A219S probably benign Het
Rad21l T G 2: 151,668,469 H22P probably damaging Het
Rnf213 A G 11: 119,479,941 T4791A probably damaging Het
Sdk2 A G 11: 113,821,626 V1609A probably benign Het
Sema3e T A 5: 14,241,043 S606T probably benign Het
Slc17a3 T C 13: 23,856,784 L331P probably damaging Het
Slc38a11 A T 2: 65,353,815 V164D probably damaging Het
Slc38a6 A G 12: 73,337,053 I173V probably benign Het
Synpo2 T C 3: 123,079,955 T1121A probably benign Het
Tfcp2 T C 15: 100,528,421 D83G possibly damaging Het
Thnsl1 A G 2: 21,211,644 T70A probably damaging Het
Tnfrsf21 A G 17: 43,087,895 I631V probably damaging Het
Tor2a C A 2: 32,757,317 H6Q possibly damaging Het
Ttn T C 2: 76,734,923 N19993S probably benign Het
Vps53 T C 11: 76,138,324 E119G probably damaging Het
Zkscan6 T C 11: 65,814,669 W69R probably damaging Het
Zswim8 T C 14: 20,714,391 S610P 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
IGL02873:Slc16a4 APN 3 107300795 missense probably benign 0.00
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
X0018:Slc16a4 UTSW 3 107300815 missense probably benign 0.01
Posted On2016-08-02