Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01082:Slc22a16'

52071

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

OKB1, FLIPT2, OCT6, CT2, 4921504E14Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

IGL01082

Quality Score

Status

Chromosome

Chromosomal Location

40570336-40604132 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40573864 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 120 (T120A)

Ref Sequence

ENSEMBL: ENSMUSP00000019978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019978] [ENSMUST00000078314]

Predicted Effect

probably benign
Transcript: ENSMUST00000019978
AA Change: T120A

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000019978
Gene: ENSMUSG00000019834
AA Change: T120A

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 benign
Transcript: ENSMUST00000078314
AA Change: T99A

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077428
Gene: ENSMUSG00000019834
AA Change: T99A

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,314,114	S723F	probably damaging	Het
Cacng5	C	T	11: 107,881,705	V106I	probably benign	Het
Ccdc116	A	G	16: 17,141,992	S278P	probably damaging	Het
Cep152	A	T	2: 125,569,545		probably benign	Het
Cftr	T	C	6: 18,226,103	V350A	probably damaging	Het
Dsc2	A	T	18: 20,043,792	N399K	probably damaging	Het
Eif3d	T	C	15: 77,959,743	T468A	probably damaging	Het
Fam110b	C	T	4: 5,799,461	A293V	possibly damaging	Het
Flrt1	T	C	19: 7,095,974	T403A	probably benign	Het
Hist1h3e	A	G	13: 23,562,374		probably benign	Het
Ift140	T	A	17: 25,048,455	V609E	possibly damaging	Het
Klb	G	A	5: 65,375,940	V531I	possibly damaging	Het
Krt73	T	C	15: 101,798,937		probably null	Het
Mcm2	A	G	6: 88,887,877	V539A	probably benign	Het
Myb	A	G	10: 21,152,944	V85A	probably damaging	Het
Ndufs1	T	C	1: 63,164,817	E102G	probably damaging	Het
Nr5a2	C	A	1: 136,845,468	A499S	probably benign	Het
Olfr1201	T	C	2: 88,795,293	F304L	probably benign	Het
Olfr1256	A	T	2: 89,844,063		probably benign	Het
Olfr126	T	A	17: 37,850,623	S10R	probably benign	Het
Opa1	A	T	16: 29,618,115		probably benign	Het
Pcnx	G	A	12: 81,990,598	E1877K	possibly damaging	Het
Sel1l	A	G	12: 91,811,908	V711A	probably benign	Het
Slc26a1	G	T	5: 108,671,878	T485N	possibly damaging	Het
Sp100	T	C	1: 85,670,020	V201A	possibly damaging	Het
Spz1	T	G	13: 92,575,521	K149T	probably damaging	Het
Stxbp5l	A	G	16: 37,204,578	S553P	possibly damaging	Het
Szt2	A	G	4: 118,397,624	S290P	probably damaging	Het
Tbc1d10c	A	G	19: 4,189,027	Y165H	probably damaging	Het
Tnxb	C	A	17: 34,714,610	Q2335K	probably damaging	Het
Trim33	T	C	3: 103,326,859	I471T	possibly damaging	Het
Vsig10	A	G	5: 117,334,905	I188V	probably benign	Het
Zfp109	A	T	7: 24,234,359	L45Q	probably damaging	Het

Other mutations in Slc22a16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Slc22a16	APN	10	40595282	missense	probably damaging	1.00
IGL00334:Slc22a16	APN	10	40573934	missense	probably benign	0.03
IGL00757:Slc22a16	APN	10	40581327	missense	probably damaging	1.00
IGL01337:Slc22a16	APN	10	40595314	missense	possibly damaging	0.51
IGL01389:Slc22a16	APN	10	40585135	missense	probably damaging	1.00
IGL01405:Slc22a16	APN	10	40585195	missense	probably benign	0.36
IGL01667:Slc22a16	APN	10	40585018	missense	probably damaging	1.00
IGL01700:Slc22a16	APN	10	40603908	missense	unknown
IGL01792:Slc22a16	APN	10	40573932	missense	possibly damaging	0.51
IGL02948:Slc22a16	APN	10	40573962	nonsense	probably null
IGL03178:Slc22a16	APN	10	40573760	missense	probably benign	0.09
PIT4418001:Slc22a16	UTSW	10	40603825	missense	unknown
R0358:Slc22a16	UTSW	10	40587492	splice site	probably null
R0422:Slc22a16	UTSW	10	40591890	missense	probably damaging	1.00
R0497:Slc22a16	UTSW	10	40584967	missense	probably damaging	1.00
R1435:Slc22a16	UTSW	10	40587607	missense	probably damaging	1.00
R1577:Slc22a16	UTSW	10	40603815	nonsense	probably null
R1696:Slc22a16	UTSW	10	40584927	missense	possibly damaging	0.75
R2022:Slc22a16	UTSW	10	40591877	missense	probably damaging	1.00
R2065:Slc22a16	UTSW	10	40585020	missense	possibly damaging	0.63
R2082:Slc22a16	UTSW	10	40585339	missense	probably benign	0.02
R4083:Slc22a16	UTSW	10	40574069	missense	probably damaging	1.00
R4588:Slc22a16	UTSW	10	40570681	intron	probably benign
R4828:Slc22a16	UTSW	10	40573640	missense	probably damaging	1.00
R4853:Slc22a16	UTSW	10	40574051	missense	probably damaging	0.98
R5127:Slc22a16	UTSW	10	40573957	missense	probably benign	0.21
R5215:Slc22a16	UTSW	10	40581390	missense	probably damaging	1.00
R5590:Slc22a16	UTSW	10	40581341	missense	possibly damaging	0.94
R5626:Slc22a16	UTSW	10	40584853	critical splice acceptor site	probably null
R5810:Slc22a16	UTSW	10	40595318	missense	possibly damaging	0.86
R6675:Slc22a16	UTSW	10	40573840	nonsense	probably null
R6692:Slc22a16	UTSW	10	40603905	missense	unknown
R6738:Slc22a16	UTSW	10	40585302	missense	probably damaging	0.99
R7158:Slc22a16	UTSW	10	40573741	missense	possibly damaging	0.66
R7685:Slc22a16	UTSW	10	40574089	missense	possibly damaging	0.73
R7883:Slc22a16	UTSW	10	40603664	missense	probably benign	0.01
R8332:Slc22a16	UTSW	10	40573745	missense	possibly damaging	0.94
RF004:Slc22a16	UTSW	10	40603646	missense	possibly damaging	0.94
Z1177:Slc22a16	UTSW	10	40585156	missense	probably damaging	0.99

Posted On

2013-06-21