Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4418001:Slc22a16'

555597

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

PIT4418001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40570336-40604132 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40603825 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 631 (A631V)

Ref Sequence

ENSEMBL: ENSMUSP00000019978 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000019978
AA Change: A631V

SMART Domains

Protein: ENSMUSP00000019978
Gene: ENSMUSG00000019834
AA Change: A631V

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

unknown
Transcript: ENSMUST00000078314
AA Change: A610V

SMART Domains

Protein: ENSMUSP00000077428
Gene: ENSMUSG00000019834
AA Change: A610V

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: 93.3%
3x: 90.8%
10x: 84.7%
20x: 71.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	T	C	6: 88,839,648	Y100C	possibly damaging	Het
Adamtsl1	T	C	4: 86,243,724	Y365H	probably damaging	Het
Atad2b	A	T	12: 5,024,587	I1049F	probably benign	Het
Atg9b	A	T	5: 24,385,515	S859T	possibly damaging	Het
Banp	G	A	8: 122,005,626	A380T	probably damaging	Het
Brinp3	C	T	1: 146,901,423	T536I	probably damaging	Het
Cacna1c	T	C	6: 118,654,423	E1155G		Het
Capn12	T	C	7: 28,886,536	S270P	probably benign	Het
Cbs	A	T	17: 31,615,521	I498N	possibly damaging	Het
Ccdc129	T	G	6: 55,968,345	S684A	probably damaging	Het
Cep68	T	C	11: 20,239,731	K427R	probably benign	Het
Cobl	G	A	11: 12,256,240	T545I	possibly damaging	Het
Cr2	T	A	1: 195,157,452	M556L	probably benign	Het
Crebbp	A	G	16: 4,114,825	S1068P	probably benign	Het
D2hgdh	C	T	1: 93,838,868	H385Y	possibly damaging	Het
Dennd1b	T	C	1: 139,081,261	L159P		Het
Dnajb4	A	T	3: 152,193,497	F31I	possibly damaging	Het
Dnajc16	A	G	4: 141,770,949	F369S	probably damaging	Het
Dtl	A	T	1: 191,541,317	L493H	possibly damaging	Het
Efcab5	T	A	11: 77,132,051	Q612L	possibly damaging	Het
Efr3b	A	T	12: 3,980,490	L407Q	possibly damaging	Het
Ehbp1	T	A	11: 22,053,494	Q1085L	probably damaging	Het
Ell	T	C	8: 70,581,681	V199A	probably damaging	Het
Elmod2	G	T	8: 83,321,542	T97K	probably benign	Het
Epn3	T	C	11: 94,496,130	E138G	probably damaging	Het
Esf1	A	T	2: 140,159,777	F383L	probably benign	Het
Fam193a	A	T	5: 34,440,535	T559S	probably damaging	Het
Galr2	T	C	11: 116,283,258	V238A	probably benign	Het
Gm3476	T	C	14: 6,118,411	I237M	probably benign	Het
Gm5160	A	T	18: 14,425,282	I139F	probably damaging	Het
Gpr15	T	C	16: 58,717,950	T259A	probably benign	Het
Iffo1	A	G	6: 125,149,783	K293E	possibly damaging	Het
Ikbip	T	A	10: 91,096,533	H346Q	probably benign	Het
Il4ra	G	A	7: 125,576,338	G573S	probably benign	Het
Ing2	A	T	8: 47,669,090	M141K	probably benign	Het
Itga6	T	C	2: 71,834,070	S517P	probably benign	Het
Kcnab1	A	G	3: 65,358,320	E295G	probably benign	Het
Klhl21	A	C	4: 152,015,378	Y515S	possibly damaging	Het
Lcn9	A	T	2: 25,824,541	Y139F	probably damaging	Het
Mcemp1	G	T	8: 3,667,052	L64F	probably null	Het
Mos	T	C	4: 3,870,814	D334G	possibly damaging	Het
Myo9b	T	G	8: 71,322,947	F338V	probably damaging	Het
Nefl	G	A	14: 68,086,530	V406M	probably damaging	Het
Nfam1	C	A	15: 83,001,488	R181L	probably damaging	Het
Ntn5	A	G	7: 45,686,501	R119G	probably damaging	Het
Olfr1145	G	T	2: 87,810,594	C258F	probably damaging	Het
Olfr1453	A	T	19: 13,027,731	Y199*	probably null	Het
Olfr19	T	C	16: 16,673,855	N42S	probably damaging	Het
Plch2	A	T	4: 154,989,503	V914E	probably damaging	Het
Ppp1r12c	T	C	7: 4,501,267	Q111R	probably null	Het
Ptchd3	T	A	11: 121,841,740	Y485*	probably null	Het
Ptchd4	T	A	17: 42,503,089	I627N	probably damaging	Het
Retnlb	T	C	16: 48,817,268	V19A	probably benign	Het
Rimbp2	T	A	5: 128,780,361	T809S	probably benign	Het
Sema6c	T	A	3: 95,170,090	D404E	possibly damaging	Het
Snai3	A	T	8: 122,456,334	H157Q	probably benign	Het
Snx15	T	C	19: 6,123,931	Y52C	probably damaging	Het
Strbp	T	C	2: 37,645,492	E68G	probably benign	Het
Sun1	T	A	5: 139,226,588	D155E	probably damaging	Het
Susd2	T	C	10: 75,638,349	D627G	probably benign	Het
Tas2r108	T	A	6: 40,493,680	I30K	probably damaging	Het
Tmc2	T	C	2: 130,248,651	V639A	probably damaging	Het
Trmt1	T	C	8: 84,697,670	Y445H	probably damaging	Het
Ttn	A	T	2: 76,767,210	N19786K	probably damaging	Het
Vmn1r79	T	G	7: 12,176,839	V216G	probably damaging	Het
Wdr64	C	A	1: 175,743,594	Y331*	probably null	Het
Zfyve28	A	T	5: 34,233,377	V180E	probably damaging	Het
Zic4	C	T	9: 91,379,394	T234I	possibly 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
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
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
R7966:Slc22a16	UTSW	10	40603664	missense	probably benign	0.01
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'- TTGGGAGACGACTGAACAGC -3'
(R):5'- TCTCTAACACAAAGTAACTGATGCC -3'

Sequencing Primer
(F):5'- CTGAACAGCAGGTGCCAG -3'
(R):5'- ATGCCAACATCCTGGGTG -3'

Posted On

2019-06-07