Incidental Mutation 'IGL01065:Slc16a4'
ID50691
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 #IGL01065
Quality Score
Status
Chromosome3
Chromosomal Location107291230-107312115 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107303100 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 362 (I362T)
Ref Sequence ENSEMBL: ENSMUSP00000102334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029502] [ENSMUST00000106723]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029502
AA Change: I362T

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: I362T

DomainStartEndE-ValueType
Pfam:MFS_1 27 373 8.2e-26 PFAM
Pfam:MFS_1 305 499 2e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106723
AA Change: I362T

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: I362T

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Apob A G 12: 8,003,299 Y1247C probably damaging Het
Atg16l1 A T 1: 87,785,931 N401I probably damaging Het
Bcam T C 7: 19,756,799 H591R probably benign Het
Bcat1 T C 6: 145,000,289 S446G possibly damaging Het
C2cd5 A G 6: 143,078,279 S262P probably damaging Het
Clrn1 T C 3: 58,885,025 K6E probably damaging Het
D17H6S53E A T 17: 35,127,283 K57* probably null Het
Dennd1a T A 2: 37,844,905 I17F probably benign Het
Depdc7 A C 2: 104,722,081 Y460* probably null Het
Disp3 T C 4: 148,261,183 Y400C probably damaging Het
Edem3 T C 1: 151,777,551 Y203H probably damaging Het
Fam71a T C 1: 191,163,027 D473G probably benign Het
Fbxl5 A G 5: 43,745,334 C679R probably damaging Het
Fhad1 T C 4: 141,905,612 T1194A probably benign Het
Gipc2 A G 3: 152,102,657 L253P possibly damaging Het
Gpr26 T C 7: 131,967,501 Y192H probably damaging Het
Hoxb6 A G 11: 96,300,809 T186A probably damaging Het
Kif24 A G 4: 41,423,639 probably benign Het
Lonp1 T C 17: 56,615,500 probably benign Het
Lrp1 A G 10: 127,575,038 I1427T probably benign Het
Lrp2 C T 2: 69,469,436 E3091K possibly damaging Het
Lzts1 T C 8: 69,136,092 N404S probably benign Het
Map3k4 A T 17: 12,232,990 D1470E probably damaging Het
Med30 A T 15: 52,721,060 N125Y probably benign Het
Mgam G A 6: 40,662,710 probably null Het
Mrps33 G A 6: 39,802,513 R83* probably null Het
Notch3 A T 17: 32,146,416 Y1107* probably null Het
Rc3h2 T A 2: 37,377,844 probably benign Het
Rev1 T C 1: 38,099,009 E65G possibly damaging Het
Rgl1 T C 1: 152,519,142 N760S probably damaging Het
Slc25a24 G A 3: 109,158,651 probably benign Het
Slc2a4 G T 11: 69,945,956 probably benign Het
Slc39a13 T A 2: 91,063,706 I256F probably damaging Het
Spdya A T 17: 71,556,325 N23I possibly damaging Het
Srpr T A 9: 35,213,438 W112R probably damaging Het
Tbc1d4 A C 14: 101,449,193 probably benign Het
Ttc39d G A 17: 80,216,274 G121R probably damaging Het
Tuba3a C T 6: 125,282,957 V9M possibly damaging Het
Upf2 A G 2: 5,961,300 K244E unknown Het
Usp39 T C 6: 72,339,975 Y141C probably damaging Het
Other mutations in Slc16a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
X0018:Slc16a4 UTSW 3 107300815 missense probably benign 0.01
Posted On2013-06-21