Incidental Mutation 'IGL01389:Slc22a16'
ID 79143
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a16
Ensembl Gene ENSMUSG00000019834
Gene Name solute carrier family 22 (organic cation transporter), member 16
Synonyms OCT6, 4921504E14Rik, OKB1, FLIPT2, CT2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL01389
Quality Score
Status
Chromosome 10
Chromosomal Location 40446332-40480128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40461131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 311 (M311K)
Ref Sequence ENSEMBL: ENSMUSP00000077428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019978] [ENSMUST00000078314]
AlphaFold Q497L8
Predicted Effect probably damaging
Transcript: ENSMUST00000019978
AA Change: M332K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019978
Gene: ENSMUSG00000019834
AA Change: M332K

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
Pfam:Sugar_tr 136 556 6.4e-25 PFAM
Pfam:MFS_1 177 514 3.1e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000078314
AA Change: M311K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077428
Gene: ENSMUSG00000019834
AA Change: M311K

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Sugar_tr 114 535 5.1e-26 PFAM
Pfam:MFS_1 156 493 4.7e-20 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 member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc163 T C 4: 116,568,503 (GRCm39) probably benign Het
Ceacam5 T G 7: 17,481,300 (GRCm39) V349G probably damaging Het
Ces2e T A 8: 105,656,197 (GRCm39) D169E probably benign Het
Cfh G T 1: 140,082,377 (GRCm39) T150K probably benign Het
Chrd A G 16: 20,559,975 (GRCm39) M859V possibly damaging Het
Clca3a2 C T 3: 144,783,629 (GRCm39) probably null Het
Crocc T C 4: 140,749,423 (GRCm39) E1536G probably damaging Het
Dhx57 A G 17: 80,588,652 (GRCm39) V67A probably benign Het
Dock11 T C X: 35,256,701 (GRCm39) V576A probably benign Het
Ighv1-85 A G 12: 115,963,671 (GRCm39) S110P probably damaging Het
Lyg1 G A 1: 37,989,011 (GRCm39) P70S probably damaging Het
Numbl T G 7: 26,980,472 (GRCm39) F485V possibly damaging Het
Or4x6 A T 2: 89,949,412 (GRCm39) C177S probably damaging Het
Pclo A G 5: 14,764,535 (GRCm39) E1051G probably damaging Het
Pdzd2 T C 15: 12,374,712 (GRCm39) S1808G possibly damaging Het
Rad51b T A 12: 79,349,327 (GRCm39) H54Q probably benign Het
Rbbp7 T C X: 161,552,939 (GRCm39) probably benign Het
Rhbdl2 G T 4: 123,723,450 (GRCm39) V285L probably benign Het
Slc22a21 A G 11: 53,870,407 (GRCm39) S93P probably damaging Het
Stt3b T C 9: 115,082,968 (GRCm39) E488G probably benign Het
Tas2r108 A G 6: 40,470,866 (GRCm39) H114R possibly damaging Het
Tcaim A G 9: 122,643,627 (GRCm39) E109G possibly damaging Het
Tsc22d2 A G 3: 58,323,659 (GRCm39) T184A probably damaging Het
Vmn2r2 G T 3: 64,024,430 (GRCm39) T717N probably damaging Het
Vps25 C T 11: 101,144,861 (GRCm39) Q20* probably null Het
Xiap T C X: 41,183,429 (GRCm39) F52L probably damaging Het
Other mutations in Slc22a16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Slc22a16 APN 10 40,471,278 (GRCm39) missense probably damaging 1.00
IGL00334:Slc22a16 APN 10 40,449,930 (GRCm39) missense probably benign 0.03
IGL00757:Slc22a16 APN 10 40,457,323 (GRCm39) missense probably damaging 1.00
IGL01082:Slc22a16 APN 10 40,449,860 (GRCm39) missense probably benign 0.40
IGL01337:Slc22a16 APN 10 40,471,310 (GRCm39) missense possibly damaging 0.51
IGL01405:Slc22a16 APN 10 40,461,191 (GRCm39) missense probably benign 0.36
IGL01667:Slc22a16 APN 10 40,461,014 (GRCm39) missense probably damaging 1.00
IGL01700:Slc22a16 APN 10 40,479,904 (GRCm39) missense unknown
IGL01792:Slc22a16 APN 10 40,449,928 (GRCm39) missense possibly damaging 0.51
IGL02948:Slc22a16 APN 10 40,449,958 (GRCm39) nonsense probably null
IGL03178:Slc22a16 APN 10 40,449,756 (GRCm39) missense probably benign 0.09
PIT4418001:Slc22a16 UTSW 10 40,479,821 (GRCm39) missense unknown
R0358:Slc22a16 UTSW 10 40,463,488 (GRCm39) splice site probably null
R0422:Slc22a16 UTSW 10 40,467,886 (GRCm39) missense probably damaging 1.00
R0497:Slc22a16 UTSW 10 40,460,963 (GRCm39) missense probably damaging 1.00
R1435:Slc22a16 UTSW 10 40,463,603 (GRCm39) missense probably damaging 1.00
R1577:Slc22a16 UTSW 10 40,479,811 (GRCm39) nonsense probably null
R1696:Slc22a16 UTSW 10 40,460,923 (GRCm39) missense possibly damaging 0.75
R2022:Slc22a16 UTSW 10 40,467,873 (GRCm39) missense probably damaging 1.00
R2065:Slc22a16 UTSW 10 40,461,016 (GRCm39) missense possibly damaging 0.63
R2082:Slc22a16 UTSW 10 40,461,335 (GRCm39) missense probably benign 0.02
R4083:Slc22a16 UTSW 10 40,450,065 (GRCm39) missense probably damaging 1.00
R4588:Slc22a16 UTSW 10 40,446,677 (GRCm39) intron probably benign
R4828:Slc22a16 UTSW 10 40,449,636 (GRCm39) missense probably damaging 1.00
R4853:Slc22a16 UTSW 10 40,450,047 (GRCm39) missense probably damaging 0.98
R5127:Slc22a16 UTSW 10 40,449,953 (GRCm39) missense probably benign 0.21
R5215:Slc22a16 UTSW 10 40,457,386 (GRCm39) missense probably damaging 1.00
R5590:Slc22a16 UTSW 10 40,457,337 (GRCm39) missense possibly damaging 0.94
R5626:Slc22a16 UTSW 10 40,460,849 (GRCm39) critical splice acceptor site probably null
R5810:Slc22a16 UTSW 10 40,471,314 (GRCm39) missense possibly damaging 0.86
R6675:Slc22a16 UTSW 10 40,449,836 (GRCm39) nonsense probably null
R6692:Slc22a16 UTSW 10 40,479,901 (GRCm39) missense unknown
R6738:Slc22a16 UTSW 10 40,461,298 (GRCm39) missense probably damaging 0.99
R7158:Slc22a16 UTSW 10 40,449,737 (GRCm39) missense possibly damaging 0.66
R7685:Slc22a16 UTSW 10 40,450,085 (GRCm39) missense possibly damaging 0.73
R7883:Slc22a16 UTSW 10 40,479,660 (GRCm39) missense probably benign 0.01
R8332:Slc22a16 UTSW 10 40,449,741 (GRCm39) missense possibly damaging 0.94
R8733:Slc22a16 UTSW 10 40,450,061 (GRCm39) missense probably benign 0.16
R9321:Slc22a16 UTSW 10 40,450,047 (GRCm39) missense probably damaging 0.98
R9548:Slc22a16 UTSW 10 40,460,865 (GRCm39) nonsense probably null
R9667:Slc22a16 UTSW 10 40,461,125 (GRCm39) missense probably benign 0.37
RF004:Slc22a16 UTSW 10 40,479,642 (GRCm39) missense possibly damaging 0.94
Z1177:Slc22a16 UTSW 10 40,461,152 (GRCm39) missense probably damaging 0.99
Posted On 2013-11-05