Mutagenetix > Incidental Mutations

Incidental Mutation 'R0497:Slc22a16'

40543

Institutional Source

Beutler Lab

Gene Symbol

Slc22a16

Ensembl Gene

ENSMUSG00000019834

Gene Name

solute carrier family 22 (organic cation transporter), member 16

Synonyms

OKB1, FLIPT2, OCT6, CT2, 4921504E14Rik

MMRRC Submission

038693-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R0497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40570336-40604132 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 40584967 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 255 (M255R)

Ref Sequence

ENSEMBL: ENSMUSP00000077428 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000019978
AA Change: M276R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019978
Gene: ENSMUSG00000019834
AA Change: M276R

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: M255R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077428
Gene: ENSMUSG00000019834
AA Change: M255R

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,147,465	C1158S	probably damaging	Het
Aatk	A	C	11: 120,018,780	V110G	probably damaging	Het
Adcy6	A	C	15: 98,597,725		probably null	Het
Adm	A	G	7: 110,629,121	T170A	probably benign	Het
Afap1l2	G	T	19: 56,930,209	N171K	probably benign	Het
Aph1b	G	T	9: 66,790,618	S112*	probably null	Het
Arhgap23	A	G	11: 97,452,163	S424G	probably damaging	Het
Asah2	T	A	19: 32,054,631	N46I	probably benign	Het
Braf	G	A	6: 39,640,549		probably benign	Het
Brd2	C	T	17: 34,114,360	R47Q	probably damaging	Het
C2cd5	A	G	6: 143,012,093	V972A	probably benign	Het
Car9	T	A	4: 43,511,881	L300H	probably damaging	Het
Chmp3	T	C	6: 71,552,411	S20P	probably damaging	Het
Chp1	A	G	2: 119,571,782	N79S	possibly damaging	Het
Cnot2	A	T	10: 116,498,355	I335N	probably damaging	Het
Cntnap4	T	C	8: 112,570,151	V6A	probably benign	Het
Ctcf	T	A	8: 105,675,040		probably benign	Het
Dennd1b	A	G	1: 139,039,986		probably benign	Het
Dirc2	A	T	16: 35,735,604	V162D	probably benign	Het
Dnmbp	A	G	19: 43,856,640		probably benign	Het
Eef2	T	C	10: 81,181,586	F782L	probably benign	Het
Eogt	T	A	6: 97,135,233	Y153F	probably benign	Het
Fam81a	G	T	9: 70,096,119	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,283,402	T2162S	probably benign	Het
Gas6	T	C	8: 13,470,387	I434V	possibly damaging	Het
Gm42417	A	T	1: 36,532,167	L77Q	probably damaging	Het
Grik3	A	T	4: 125,623,510	N49Y	possibly damaging	Het
Gucy2e	A	T	11: 69,224,159	V974E	probably damaging	Het
Helz2	A	G	2: 181,229,656	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,956,966		probably null	Het
Krt73	A	G	15: 101,802,230	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,282,874		probably benign	Het
Lrrc15	A	T	16: 30,272,892	V543E	probably damaging	Het
Med13	G	A	11: 86,276,983		probably benign	Het
Med25	T	C	7: 44,892,100	D60G	probably damaging	Het
Mgam	T	A	6: 40,664,892	Y560N	probably damaging	Het
Mlkl	A	G	8: 111,327,873	Y211H	probably damaging	Het
Msl2	A	G	9: 101,101,294	N289S	probably benign	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Olfr1281	A	G	2: 111,328,830	D137G	probably benign	Het
Omt2b	T	C	9: 78,328,231		probably benign	Het
Pald1	A	G	10: 61,341,315	L652P	probably damaging	Het
Pard3b	T	A	1: 62,440,008		probably null	Het
Prdm15	G	A	16: 97,794,334	T1098I	possibly damaging	Het
Rock2	A	G	12: 16,954,953	T436A	probably benign	Het
Sema4c	A	T	1: 36,549,608	D812E	probably benign	Het
Sla	A	T	15: 66,792,249	I91K	probably benign	Het
Smg8	C	T	11: 87,086,084	D224N	possibly damaging	Het
Spdef	A	T	17: 27,718,058	D190E	probably benign	Het
Taok1	A	G	11: 77,573,804	I152T	probably damaging	Het
Tmem220	A	G	11: 67,025,922	D36G	probably damaging	Het
Tmem235	A	C	11: 117,864,351	I210L	probably benign	Het
Tmem266	C	T	9: 55,380,884		probably null	Het
Tmprss12	A	G	15: 100,281,039		probably benign	Het
Trim32	G	A	4: 65,613,254	R16Q	probably damaging	Het
Usp38	T	A	8: 80,984,424		probably benign	Het
Usp44	C	T	10: 93,846,806	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,805,948	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,634,026	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,375,132	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,091,889	Y269*	probably null	Het
Zan	C	T	5: 137,412,676		probably benign	Het
Zfp616	G	T	11: 74,083,480	V192L	probably benign	Het
Zfp644	A	T	5: 106,638,333	V116D	probably damaging	Het
Zgrf1	T	C	3: 127,584,650		probably benign	Het
Zhx3	A	T	2: 160,779,994	L751*	probably null	Het
Znfx1	T	A	2: 167,055,411	Q531L	probably benign	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
IGL01082:Slc22a16	APN	10	40573864	missense	probably benign	0.40
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
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
R8733:Slc22a16	UTSW	10	40574065
RF004:Slc22a16	UTSW	10	40603646	missense	possibly damaging	0.94
Z1177:Slc22a16	UTSW	10	40585156	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGACTCAGACCCCTCATTCGTAAC -3'
(R):5'- AGCCTGTGCTTCCTAATGCTGTG -3'

Sequencing Primer
(F):5'- ACTGTACCATCATTACTGAGTCG -3'
(R):5'- GGACCTCGTCACATCTAGTGATAAG -3'

Posted On

2013-05-23