Incidental Mutation 'IGL01311:Slc16a4'
ID73674
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 #IGL01311
Quality Score
Status
Chromosome3
Chromosomal Location107291230-107312115 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 107292505 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 23 (V23F)
Ref Sequence ENSEMBL: ENSMUSP00000102334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029502] [ENSMUST00000106723]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029502
AA Change: V23F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: V23F

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: V23F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: V23F

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik C T 19: 29,754,020 V531I probably benign Het
Arap1 A T 7: 101,388,136 K457* probably null Het
Arhgef10 C A 8: 14,991,054 probably null Het
Becn1 C T 11: 101,291,516 G281S probably damaging Het
Borcs8 A G 8: 70,165,168 S59G probably damaging Het
Capn5 C A 7: 98,161,923 R53L probably damaging Het
Cdk5 C T 5: 24,419,595 probably null Het
Cnksr1 A G 4: 134,230,466 L434P probably damaging Het
Col22a1 C T 15: 71,973,637 probably benign Het
Fam208b A G 13: 3,575,885 V1355A possibly damaging Het
Fn1 T C 1: 71,628,140 D811G probably damaging Het
Gm884 T A 11: 103,534,676 R1450S unknown Het
Haus3 G A 5: 34,167,644 Q224* probably null Het
Jakmip2 A G 18: 43,557,324 probably benign Het
Jam3 T G 9: 27,098,723 T296P probably damaging Het
Kcnrg T C 14: 61,611,825 L245P probably damaging Het
Kif1b A G 4: 149,220,602 L909P probably damaging Het
Klrc3 T C 6: 129,641,412 D136G probably damaging Het
Ltf T C 9: 111,031,012 probably benign Het
Meig1 A T 2: 3,409,208 V85D possibly damaging Het
Mrgprb2 T A 7: 48,551,998 E326D probably benign Het
Nlrp2 T A 7: 5,319,239 D65V possibly damaging Het
Olfr1186 T C 2: 88,525,760 F59S possibly damaging Het
Olfr652 T C 7: 104,564,829 Y203H probably damaging Het
Padi2 G A 4: 140,917,637 V61I probably benign Het
Pkd1l1 T C 11: 8,901,174 S753G possibly damaging Het
Ppp4r3b T C 11: 29,194,591 S314P probably benign Het
Serpina3i T C 12: 104,267,687 S305P probably damaging Het
Slc25a34 G A 4: 141,621,436 T239I possibly damaging Het
Srebf2 T C 15: 82,192,203 probably benign Het
Tcf12 A T 9: 71,858,656 probably benign Het
Tnpo3 T C 6: 29,586,078 E171G possibly damaging Het
Ubr4 A G 4: 139,479,045 H4864R possibly damaging Het
Vmn2r108 A T 17: 20,462,677 L755* probably null Het
Zfp292 C T 4: 34,807,961 M1699I probably benign Het
Zmynd8 T C 2: 165,805,209 D880G probably damaging Het
Other mutations in Slc16a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Slc16a4 APN 3 107303100 missense possibly damaging 0.67
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
X0018:Slc16a4 UTSW 3 107300815 missense probably benign 0.01
Posted On2013-10-07