Mutagenetix > Incidental Mutation

Incidental Mutation 'R4853:Slc22a16'

373725

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40446332-40480128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40450047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 161 (I161N)

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: I182N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019978
Gene: ENSMUSG00000019834
AA Change: I182N

Domain	Start	End	E-Value	Type
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: I161N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077428
Gene: ENSMUSG00000019834
AA Change: I161N

Domain	Start	End	E-Value	Type
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

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Abr	T	C	11: 76,355,087 (GRCm39)	T244A	probably damaging	Het
Adcy10	T	A	1: 165,375,782 (GRCm39)	N803K	probably benign	Het
Afm	T	C	5: 90,699,326 (GRCm39)	F590S	probably damaging	Het
Agk	T	C	6: 40,360,753 (GRCm39)		probably null	Het
Agrn	C	T	4: 156,270,007 (GRCm39)		probably null	Het
Apon	A	G	10: 128,090,951 (GRCm39)	S210G	probably benign	Het
Atad5	A	G	11: 79,986,098 (GRCm39)	E395G	probably damaging	Het
AU018091	A	T	7: 3,205,861 (GRCm39)	L671H	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Ccdc154	A	T	17: 25,389,941 (GRCm39)	I524F	probably damaging	Het
Clspn	T	A	4: 126,460,348 (GRCm39)	I525K	probably damaging	Het
Cpne5	A	T	17: 29,380,172 (GRCm39)	V448E	probably benign	Het
Cps1	A	G	1: 67,195,361 (GRCm39)	I261V	possibly damaging	Het
Crybb2	T	C	5: 113,211,054 (GRCm39)	E78G	probably damaging	Het
Ctps1	G	T	4: 120,411,207 (GRCm39)	L270I	probably damaging	Het
Cyp19a1	T	C	9: 54,074,060 (GRCm39)	D431G	probably benign	Het
Cyp3a57	T	G	5: 145,302,489 (GRCm39)	V95G	probably damaging	Het
Ddx54	A	G	5: 120,761,694 (GRCm39)	D490G	probably benign	Het
Dnai2	A	T	11: 114,635,917 (GRCm39)	I301F	probably benign	Het
Dsg1b	A	G	18: 20,541,793 (GRCm39)	S767G	probably benign	Het
Dsg1b	A	T	18: 20,523,189 (GRCm39)		probably null	Het
Ermap	G	A	4: 119,044,451 (GRCm39)	P115L	probably damaging	Het
Esrra	T	G	19: 6,897,440 (GRCm39)	T106P	probably damaging	Het
Exoc5	GTATT	GT	14: 49,289,826 (GRCm39)		probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gnl3	T	C	14: 30,737,270 (GRCm39)	K203E	probably damaging	Het
H2ac13	A	G	13: 21,900,866 (GRCm39)	E92G	probably damaging	Het
Habp2	G	A	19: 56,299,623 (GRCm39)		probably null	Het
Kcnh3	A	C	15: 99,139,970 (GRCm39)	D952A	possibly damaging	Het
Kif27	T	C	13: 58,459,072 (GRCm39)	K920E	probably benign	Het
Kmt2e	C	T	5: 23,707,339 (GRCm39)	P1634L	probably damaging	Het
Lamc1	A	T	1: 153,104,846 (GRCm39)	M1312K	possibly damaging	Het
Myh14	T	A	7: 44,257,872 (GRCm39)	Q1921L	probably damaging	Het
Ncor2	A	G	5: 125,102,169 (GRCm39)	V68A	probably damaging	Het
Ncor2	A	G	5: 125,158,247 (GRCm39)	F444L	unknown	Het
Nedd9	A	G	13: 41,469,837 (GRCm39)	Y439H	probably benign	Het
Nsd1	T	A	13: 55,416,317 (GRCm39)	H1454Q	probably benign	Het
Or10v9	T	A	19: 11,832,645 (GRCm39)	D224V	probably benign	Het
Or51v8	G	T	7: 103,320,010 (GRCm39)	T76K	probably damaging	Het
Or5i1	T	G	2: 87,613,526 (GRCm39)	F214C	probably benign	Het
Or9m1b	A	G	2: 87,836,448 (GRCm39)	S216P	probably damaging	Het
P4ha2	G	A	11: 54,010,996 (GRCm39)	S337N	probably benign	Het
Pck1	T	A	2: 172,996,507 (GRCm39)	Y140*	probably null	Het
Phldb2	T	C	16: 45,623,079 (GRCm39)	M656V	probably damaging	Het
Pif1	T	C	9: 65,500,858 (GRCm39)	W559R	probably damaging	Het
Pllp	T	C	8: 95,406,022 (GRCm39)	Y87C	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,046 (GRCm39)	N623D	probably benign	Het
Prkcg	C	T	7: 3,367,469 (GRCm39)	R345C	probably damaging	Het
Rgl1	T	C	1: 152,433,325 (GRCm39)	I147V	probably benign	Het
Sdk1	T	A	5: 142,132,018 (GRCm39)	L1649Q	probably damaging	Het
Sema3b	C	T	9: 107,479,266 (GRCm39)		probably null	Het
Sh3rf3	G	A	10: 58,919,341 (GRCm39)	R486H	probably damaging	Het
Shoc1	T	C	4: 59,072,345 (GRCm39)	K624E	possibly damaging	Het
Slain2	A	G	5: 73,105,941 (GRCm39)	N192S	probably benign	Het
Strip1	T	C	3: 107,524,232 (GRCm39)	K562E	possibly damaging	Het
Sumf1	A	G	6: 108,162,456 (GRCm39)	L21S	probably benign	Het
Sytl3	T	A	17: 7,005,164 (GRCm39)	S380T	probably damaging	Het
Tgfb1i1	T	A	7: 127,847,840 (GRCm39)	C74*	probably null	Het
Tmprss15	T	G	16: 78,757,479 (GRCm39)	I939L	probably benign	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,585,536 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,215,639 (GRCm39)	V139E	probably damaging	Het
Wdr27	A	G	17: 15,137,475 (GRCm39)		probably null	Het
Zkscan14	A	G	5: 145,132,001 (GRCm39)	V510A	probably benign	Het

Other mutations in Slc22a16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CTGGGAACTCACGAGATGTAGC -3'
(R):5'- ACTGTGTTACTCTGCGTGCC -3'

Sequencing Primer
(F):5'- CTCACGAGATGTAGCAGGACTTG -3'
(R):5'- CTGCGTGCCTAACTGATGGATC -3'

Posted On

2016-03-01