Mutagenetix > Incidental Mutation

Incidental Mutation 'R7158:Slc22a16'

557452

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

045329-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R7158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40446332-40480128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 40449737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 79 (V79L)

Ref Sequence

ENSEMBL: ENSMUSP00000019978 (fasta)

Gene Model

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

AlphaFold

Q497L8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019978
AA Change: V79L

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000019978
Gene: ENSMUSG00000019834
AA Change: V79L

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

possibly damaging
Transcript: ENSMUST00000078314
AA Change: V58L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077428
Gene: ENSMUSG00000019834
AA Change: V58L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,223,982 (GRCm39)	M454L	probably benign	Het
Abca8b	T	A	11: 109,825,415 (GRCm39)	E1595V	probably damaging	Het
Actr5	T	A	2: 158,468,334 (GRCm39)	C155S	possibly damaging	Het
Acvr1b	T	A	15: 101,091,939 (GRCm39)	V73E	probably benign	Het
Add2	T	C	6: 86,062,934 (GRCm39)	Y31H	probably damaging	Het
Akap13	G	T	7: 75,229,342 (GRCm39)	V92F	probably damaging	Het
Alox8	T	A	11: 69,076,696 (GRCm39)	M568L	probably benign	Het
Birc6	A	T	17: 74,901,371 (GRCm39)	E1145V	probably benign	Het
Bltp3a	T	A	17: 28,105,407 (GRCm39)	C644*	probably null	Het
Cacng1	A	T	11: 107,594,665 (GRCm39)	M166K	probably damaging	Het
Ces1f	A	G	8: 93,994,644 (GRCm39)	F256L	probably benign	Het
Clpb	A	G	7: 101,313,039 (GRCm39)	R8G	probably benign	Het
Col6a5	A	G	9: 105,741,407 (GRCm39)	V2504A	possibly damaging	Het
Coq8a	T	C	1: 180,006,749 (GRCm39)	D93G	probably benign	Het
Cry2	A	T	2: 92,244,060 (GRCm39)	I371N	probably damaging	Het
Ddx43	A	C	9: 78,319,501 (GRCm39)	Q276H	probably damaging	Het
Dock10	T	C	1: 80,564,589 (GRCm39)		probably null	Het
Dst	A	G	1: 34,313,366 (GRCm39)	T4378A	probably benign	Het
Fezf1	T	C	6: 23,245,789 (GRCm39)	T459A	probably benign	Het
Gm10097	C	T	10: 5,019,407 (GRCm39)	A72V	unknown	Het
Hydin	A	G	8: 111,336,303 (GRCm39)	S5027G	possibly damaging	Het
Inhbb	A	T	1: 119,348,752 (GRCm39)	L22*	probably null	Het
Kat8	G	A	7: 127,521,331 (GRCm39)	G228S	probably benign	Het
Kif15	T	A	9: 122,828,379 (GRCm39)	S897T	probably benign	Het
Kndc1	A	G	7: 139,511,773 (GRCm39)	Y1460C	possibly damaging	Het
Krt78	T	A	15: 101,860,241 (GRCm39)	D225V	probably benign	Het
Lama3	A	T	18: 12,589,869 (GRCm39)	I800F	probably benign	Het
Mdn1	C	A	4: 32,725,121 (GRCm39)	T2580K	probably benign	Het
Mest	T	C	6: 30,744,913 (GRCm39)	F201S	possibly damaging	Het
Mtmr9	A	G	14: 63,764,318 (GRCm39)	F470L	probably benign	Het
Nfic	C	T	10: 81,256,439 (GRCm39)	R75Q	probably damaging	Het
Nme2	G	A	11: 93,846,484 (GRCm39)		probably benign	Het
Nrg4	A	G	9: 55,149,384 (GRCm39)	L71P	probably damaging	Het
Pacsin2	C	T	15: 83,263,943 (GRCm39)	E365K	possibly damaging	Het
Pappa	T	C	4: 65,123,104 (GRCm39)	I813T	possibly damaging	Het
Pcdhgb4	A	G	18: 37,853,938 (GRCm39)	E111G	probably damaging	Het
Pdzd8	C	T	19: 59,288,589 (GRCm39)	R937H	probably damaging	Het
Per1	T	G	11: 68,994,930 (GRCm39)		probably benign	Het
Pex2	A	G	3: 5,626,396 (GRCm39)	F138L	probably benign	Het
Pold1	A	T	7: 44,188,290 (GRCm39)	N529K	probably damaging	Het
Pou6f2	T	C	13: 18,326,623 (GRCm39)	I316V		Het
Prom1	A	C	5: 44,170,255 (GRCm39)	I682S	probably damaging	Het
Prpf40a	T	C	2: 53,042,565 (GRCm39)	K481E	probably damaging	Het
Prrg4	A	T	2: 104,662,958 (GRCm39)	V216E	probably damaging	Het
Ptch2	C	T	4: 116,971,981 (GRCm39)	P1168S	possibly damaging	Het
Pvr	C	A	7: 19,652,562 (GRCm39)	E118*	probably null	Het
R3hcc1l	C	T	19: 42,571,868 (GRCm39)	P716S	probably damaging	Het
Rasa4	A	G	5: 136,130,875 (GRCm39)	E382G	probably damaging	Het
Rbp3	T	A	14: 33,677,513 (GRCm39)	M487K	probably benign	Het
Rsad2	A	T	12: 26,500,779 (GRCm39)		probably null	Het
Shmt1	T	C	11: 60,681,068 (GRCm39)	I353V	probably benign	Het
Shprh	C	T	10: 11,042,474 (GRCm39)	T819I	probably damaging	Het
Skap1	T	A	11: 96,416,883 (GRCm39)	F56Y	possibly damaging	Het
Slc34a1	A	G	13: 55,549,044 (GRCm39)	T165A	probably damaging	Het
Smchd1	A	C	17: 71,707,145 (GRCm39)	I941R	probably damaging	Het
Syne1	C	A	10: 5,007,931 (GRCm39)	V98F	probably damaging	Het
Tcaim	A	G	9: 122,648,055 (GRCm39)	D190G	possibly damaging	Het
Tdrd9	G	C	12: 112,002,800 (GRCm39)	E816D	probably benign	Het
Tmem132d	T	C	5: 128,214,083 (GRCm39)	K326E	possibly damaging	Het
Usp35	T	C	7: 96,975,171 (GRCm39)	M1V	probably null	Het
Wdr62	C	T	7: 29,970,163 (GRCm39)	V215I	possibly damaging	Het
Zan	T	C	5: 137,398,906 (GRCm39)	T4153A	unknown	Het
Zfp239	G	T	6: 117,848,690 (GRCm39)	E143*	probably null	Het
Zfp292	T	C	4: 34,808,679 (GRCm39)	D1460G	probably benign	Het
Zfp647	C	T	15: 76,801,505 (GRCm39)	G90R	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
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
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'- CACTGATAGGCCAGCAATAGTC -3'
(R):5'- TGCTCTGATCATAGACGTAGCC -3'

Sequencing Primer
(F):5'- CTGATAGGCCAGCAATAGTCACTAG -3'
(R):5'- TCTGATCATAGACGTAGCCATCGAAG -3'

Posted On

2019-06-26