Incidental Mutation 'R7883:Slc22a16'
ID 608901
Institutional Source Beutler Lab
Gene Symbol Slc22a16
Ensembl Gene ENSMUSG00000019834
Gene Name solute carrier family 22 (organic cation transporter), member 16
Synonyms OCT6, 4921504E14Rik, OKB1, FLIPT2, CT2
MMRRC Submission 045935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R7883 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 40446332-40480128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 40479660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 577 (D577E)
Ref Sequence ENSEMBL: ENSMUSP00000019978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019978] [ENSMUST00000078314]
AlphaFold Q497L8
Predicted Effect probably benign
Transcript: ENSMUST00000019978
AA Change: D577E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000019978
Gene: ENSMUSG00000019834
AA Change: D577E

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 benign
Transcript: ENSMUST00000078314
AA Change: D556E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000077428
Gene: ENSMUSG00000019834
AA Change: D556E

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (79/80)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110065P20Rik A T 4: 124,744,440 (GRCm39) W5R unknown Het
Abcb6 A T 1: 75,154,660 (GRCm39) S258R possibly damaging Het
Abcc10 A G 17: 46,618,027 (GRCm39) V1082A probably benign Het
Adrb2 A G 18: 62,312,447 (GRCm39) V126A probably damaging Het
Apol11a A G 15: 77,400,774 (GRCm39) E87G probably damaging Het
Arhgap45 T A 10: 79,863,423 (GRCm39) C755* probably null Het
Arl13b A T 16: 62,647,629 (GRCm39) I93K probably damaging Het
Aspm A G 1: 139,406,405 (GRCm39) K1764R possibly damaging Het
Atp8b5 A G 4: 43,342,471 (GRCm39) I381V probably damaging Het
Atxn2 A G 5: 121,940,180 (GRCm39) H985R possibly damaging Het
Bms1 G T 6: 118,365,735 (GRCm39) N1150K probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camta2 T C 11: 70,566,037 (GRCm39) D749G probably damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Cep152 G A 2: 125,454,978 (GRCm39) A274V possibly damaging Het
Chd7 A G 4: 8,826,504 (GRCm39) N956S probably damaging Het
Cpt1c A T 7: 44,613,438 (GRCm39) probably null Het
Cttn C T 7: 143,999,555 (GRCm39) V338I probably benign Het
Dab2ip G A 2: 35,610,218 (GRCm39) G811D possibly damaging Het
Dmtf1 T C 5: 9,190,397 (GRCm39) T106A probably benign Het
Dync2h1 T C 9: 7,005,566 (GRCm39) E3768G possibly damaging Het
Exoc1 T A 5: 76,709,229 (GRCm39) D612E probably damaging Het
Fat2 T C 11: 55,144,190 (GRCm39) probably null Het
Fat4 G A 3: 39,035,968 (GRCm39) E3207K probably damaging Het
Fbxw18 A G 9: 109,517,474 (GRCm39) Y410H probably damaging Het
Fgfr3 T A 5: 33,891,235 (GRCm39) S518T probably damaging Het
Fzr1 G A 10: 81,204,469 (GRCm39) T377M probably damaging Het
Gcnt3 T A 9: 69,941,453 (GRCm39) I372F probably damaging Het
Gm10577 A T 4: 100,877,719 (GRCm39) Y59N unknown Het
Gm826 A G 2: 160,169,213 (GRCm39) L32P unknown Het
Grid1 T G 14: 35,172,259 (GRCm39) probably null Het
Hid1 T A 11: 115,245,435 (GRCm39) T457S probably damaging Het
Hsd3b5 A G 3: 98,529,456 (GRCm39) V58A probably benign Het
Iqcj A G 3: 67,954,641 (GRCm39) K49E probably damaging Het
Itpk1 A G 12: 102,572,434 (GRCm39) V93A probably benign Het
Kcnt2 A G 1: 140,450,888 (GRCm39) I722M probably damaging Het
Klhl36 T C 8: 120,601,217 (GRCm39) V412A possibly damaging Het
Krt18 G A 15: 101,936,885 (GRCm39) V58M possibly damaging Het
Lats2 T C 14: 57,934,657 (GRCm39) Y691C probably damaging Het
Lrp1b A T 2: 40,555,141 (GRCm39) I4095N Het
Map1a A G 2: 121,135,853 (GRCm39) E2223G probably damaging Het
Med25 A G 7: 44,541,232 (GRCm39) F94L possibly damaging Het
Mertk A G 2: 128,618,265 (GRCm39) I499V probably benign Het
Mrps12 A G 7: 28,439,568 (GRCm39) L49P probably benign Het
Nwd1 T A 8: 73,393,754 (GRCm39) V339D probably damaging Het
Obscn G A 11: 58,960,835 (GRCm39) Q3159* probably null Het
Patj G A 4: 98,499,372 (GRCm39) V1349I probably benign Het
Pcdha8 T A 18: 37,126,196 (GRCm39) V226D probably damaging Het
Pdgfd T A 9: 6,293,939 (GRCm39) probably null Het
Pdzd7 A C 19: 45,018,679 (GRCm39) I600S probably damaging Het
Pgpep1l G A 7: 67,888,897 (GRCm39) R45* probably null Het
Pik3c3 T C 18: 30,407,416 (GRCm39) S55P probably benign Het
Pkhd1l1 A T 15: 44,392,522 (GRCm39) D1619V probably damaging Het
Pkp1 A G 1: 135,812,641 (GRCm39) probably null Het
Ppan T A 9: 20,802,777 (GRCm39) I311N probably benign Het
Ppih C A 4: 119,167,987 (GRCm39) G175W probably damaging Het
Ppp1r8 G T 4: 132,562,026 (GRCm39) Q65K probably damaging Het
Psmd5 T A 2: 34,746,524 (GRCm39) K351M possibly damaging Het
Pth1r T C 9: 110,560,626 (GRCm39) K53R probably benign Het
Ptprn A T 1: 75,239,007 (GRCm39) F9L probably damaging Het
Rgl3 T C 9: 21,892,723 (GRCm39) I288V probably benign Het
Sds A G 5: 120,617,278 (GRCm39) I45V possibly damaging Het
Sfxn4 A T 19: 60,847,187 (GRCm39) probably null Het
Sis A T 3: 72,828,329 (GRCm39) C1220S possibly damaging Het
Slc25a10 T A 11: 120,385,340 (GRCm39) M43K possibly damaging Het
Smpd1 T C 7: 105,206,192 (GRCm39) I440T probably damaging Het
Spata6l A C 19: 28,906,013 (GRCm39) S297A probably benign Het
St6galnac6 A G 2: 32,504,941 (GRCm39) N151S probably benign Het
Taf4 G T 2: 179,571,088 (GRCm39) L742M probably damaging Het
Tctn1 A G 5: 122,402,375 (GRCm39) S20P possibly damaging Het
Tkfc A T 19: 10,572,394 (GRCm39) probably null Het
Tmem270 A G 5: 134,931,681 (GRCm39) V87A possibly damaging Het
Tpo T C 12: 30,153,169 (GRCm39) H395R probably damaging Het
Tufm T C 7: 126,088,114 (GRCm39) F206L possibly damaging Het
Tulp2 A G 7: 45,166,188 (GRCm39) probably null Het
Tulp3 G A 6: 128,303,807 (GRCm39) T264M probably damaging Het
Uqcrc2 A G 7: 120,244,440 (GRCm39) D194G possibly damaging Het
Vill C A 9: 118,894,589 (GRCm39) C415* probably null Het
Zfp799 A G 17: 33,039,256 (GRCm39) C337R probably damaging Het
Zhx2 A G 15: 57,685,270 (GRCm39) E213G possibly 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
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
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
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
Predicted Primers PCR Primer
(F):5'- GTCTGAATCAGGTCCGGTAC -3'
(R):5'- CAAGAGAAGCTCTGCCTGAAGC -3'

Sequencing Primer
(F):5'- GAATCAGGTCCGGTACTTCTTATTC -3'
(R):5'- TGAAGCACCCCTCTCAGTC -3'
Posted On 2019-12-20