Incidental Mutation 'IGL02948:Slc22a16'
ID 364827
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 # IGL02948
Quality Score
Status
Chromosome 10
Chromosomal Location 40446332-40480128 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 40449958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 131 (Y131*)
Ref Sequence ENSEMBL: ENSMUSP00000077428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019978] [ENSMUST00000078314]
AlphaFold Q497L8
Predicted Effect probably null
Transcript: ENSMUST00000019978
AA Change: Y152*
SMART Domains Protein: ENSMUSP00000019978
Gene: ENSMUSG00000019834
AA Change: Y152*

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 null
Transcript: ENSMUST00000078314
AA Change: Y131*
SMART Domains Protein: ENSMUSP00000077428
Gene: ENSMUSG00000019834
AA Change: Y131*

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,318 (GRCm39) probably benign Het
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cntn1 A G 15: 92,143,891 (GRCm39) T285A probably benign Het
Dusp4 G T 8: 35,285,726 (GRCm39) G329V probably damaging Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Fbxw2 T C 2: 34,695,723 (GRCm39) *455W probably null Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Homer2 C A 7: 81,299,393 (GRCm39) W24L probably damaging Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Naprt C T 15: 75,764,206 (GRCm39) R336Q probably damaging Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Rnf130 T C 11: 49,943,598 (GRCm39) probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Rtn2 T C 7: 19,027,036 (GRCm39) S17P probably damaging Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc28a2 T A 2: 122,288,458 (GRCm39) M583K possibly damaging Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Strip1 T C 3: 107,520,582 (GRCm39) R823G probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim55 T A 3: 19,725,116 (GRCm39) L211Q probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T probably benign 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
IGL01389:Slc22a16 APN 10 40,461,131 (GRCm39) missense probably damaging 1.00
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
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 2015-12-18