Incidental Mutation 'IGL01377:Slc16a12'
ID78780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc16a12
Ensembl Gene ENSMUSG00000009378
Gene Namesolute carrier family 16 (monocarboxylic acid transporters), member 12
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL01377
Quality Score
Status
Chromosome19
Chromosomal Location34668403-34747289 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 34672684 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 317 (N317I)
Ref Sequence ENSEMBL: ENSMUSP00000009522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009522]
Predicted Effect possibly damaging
Transcript: ENSMUST00000009522
AA Change: N317I

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000009522
Gene: ENSMUSG00000009378
AA Change: N317I

DomainStartEndE-ValueType
Pfam:MFS_1 25 232 5.6e-23 PFAM
Pfam:MFS_1 253 465 1.5e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,973,452 probably null Het
A530064D06Rik A T 17: 48,152,940 V196D probably damaging Het
Ago1 C T 4: 126,459,817 V279M probably damaging Het
Ccdc170 A G 10: 4,560,966 D675G probably damaging Het
Cdc42bpa T A 1: 180,065,143 Y291N probably damaging Het
Cdca5 T C 19: 6,090,282 S158P probably damaging Het
Cdh8 A G 8: 99,033,389 I576T probably damaging Het
Cpsf2 T A 12: 101,987,381 probably null Het
Cyc1 C T 15: 76,344,962 R143* probably null Het
Dcaf6 A T 1: 165,388,724 S437T probably benign Het
Eif5b A G 1: 38,036,098 D552G probably benign Het
Epor T C 9: 21,959,297 D429G probably damaging Het
Farp2 A G 1: 93,603,459 I560V possibly damaging Het
Fbxw21 T A 9: 109,146,645 R228* probably null Het
Fyb T C 15: 6,580,320 S125P probably benign Het
Gfm1 A T 3: 67,474,753 Y720F probably damaging Het
Hspbap1 T A 16: 35,825,311 D455E possibly damaging Het
Katnal2 T C 18: 77,002,457 R285G probably damaging Het
Kif12 G A 4: 63,170,725 T153I probably damaging Het
Klhl31 T C 9: 77,650,731 F243S probably benign Het
Large2 A G 2: 92,369,331 Y208H probably damaging Het
Lrp1b A G 2: 40,601,538 V239A probably damaging Het
Mblac2 G A 13: 81,750,147 R214H probably damaging Het
Mlf2 A G 6: 124,934,691 N168D probably damaging Het
Mtmr6 T A 14: 60,282,034 Y134* probably null Het
Mtus1 T C 8: 41,083,135 K515E possibly damaging Het
Nek1 A G 8: 61,089,456 T718A probably benign Het
Nfx1 A G 4: 40,977,241 N305S probably benign Het
Nrxn3 T A 12: 89,533,012 probably null Het
Nsf T C 11: 103,872,647 D377G probably damaging Het
Pde4b A G 4: 102,487,402 E102G probably damaging Het
Pdlim4 G T 11: 54,056,304 S56R probably benign Het
Poc5 T C 13: 96,401,631 V268A probably benign Het
Sec23b A C 2: 144,559,237 E6A probably damaging Het
Sgsm1 A T 5: 113,276,182 probably benign Het
Slc1a7 A T 4: 107,992,965 D91V probably damaging Het
Slc30a9 T G 5: 67,315,830 S86A probably benign Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tacr1 T C 6: 82,403,655 S16P probably benign Het
Tmtc1 A C 6: 148,245,787 V804G possibly damaging Het
Ttc7b A G 12: 100,355,112 F587L probably benign Het
Vmn2r86 A T 10: 130,452,986 D215E probably damaging Het
Other mutations in Slc16a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:Slc16a12 APN 19 34690671 missense possibly damaging 0.71
PIT1430001:Slc16a12 UTSW 19 34677359 missense possibly damaging 0.50
R0017:Slc16a12 UTSW 19 34672698 splice site probably benign
R0122:Slc16a12 UTSW 19 34674864 missense probably benign 0.03
R0140:Slc16a12 UTSW 19 34672704 splice site probably benign
R1669:Slc16a12 UTSW 19 34680381 missense probably benign 0.33
R1824:Slc16a12 UTSW 19 34670878 missense possibly damaging 0.89
R4033:Slc16a12 UTSW 19 34675167 missense probably damaging 1.00
R4669:Slc16a12 UTSW 19 34672565 missense probably damaging 1.00
R4703:Slc16a12 UTSW 19 34674891 missense possibly damaging 0.94
R4832:Slc16a12 UTSW 19 34680380 missense possibly damaging 0.84
R4937:Slc16a12 UTSW 19 34675243 missense probably damaging 1.00
R4997:Slc16a12 UTSW 19 34674958 missense probably benign 0.00
R5613:Slc16a12 UTSW 19 34674958 missense probably benign 0.43
R5725:Slc16a12 UTSW 19 34674827 missense probably damaging 1.00
R6139:Slc16a12 UTSW 19 34670895 critical splice acceptor site probably null
R6417:Slc16a12 UTSW 19 34672697 critical splice acceptor site probably null
R6420:Slc16a12 UTSW 19 34672697 critical splice acceptor site probably null
R6947:Slc16a12 UTSW 19 34672607 missense probably benign 0.03
R7694:Slc16a12 UTSW 19 34670635 missense probably damaging 1.00
R7819:Slc16a12 UTSW 19 34675179 missense probably damaging 1.00
R7860:Slc16a12 UTSW 19 34675330 missense probably benign 0.00
R7943:Slc16a12 UTSW 19 34675330 missense probably benign 0.00
Posted On2013-11-05