Mutagenetix > Incidental Mutation

Incidental Mutation 'R9548:Slc22a16'

720247

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

Accession Numbers

Essential gene?

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

Stock #

R9548 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40446332-40480128 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 40460865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 243 (Y243*)

Ref Sequence

ENSEMBL: ENSMUSP00000019978 (fasta)

Gene Model

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

AlphaFold

Q497L8

Predicted Effect

probably null
Transcript: ENSMUST00000019978
AA Change: Y243*

SMART Domains

Protein: ENSMUSP00000019978
Gene: ENSMUSG00000019834
AA Change: Y243*

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 null
Transcript: ENSMUST00000078314
AA Change: Y222*

SMART Domains

Protein: ENSMUSP00000077428
Gene: ENSMUSG00000019834
AA Change: Y222*

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: 99.3%
20x: 97.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankfy1	G	A	11: 72,641,005 (GRCm39)		probably null	Het
Arid1b	A	G	17: 5,385,262 (GRCm39)	Y1340C	probably damaging	Het
Bcl2	C	A	1: 106,640,508 (GRCm39)	A35S	probably benign	Het
Brf2	A	T	8: 27,614,623 (GRCm39)	S188T	probably benign	Het
Carmil1	C	A	13: 24,460,516 (GRCm39)	G21V	probably damaging	Het
Cavin4	T	C	4: 48,663,956 (GRCm39)	V112A	probably benign	Het
Cd300lf	T	C	11: 115,007,858 (GRCm39)	E319G	probably benign	Het
Cd44	A	T	2: 102,661,832 (GRCm39)	D587E	possibly damaging	Het
Cfap53	A	T	18: 74,438,040 (GRCm39)	T239S	possibly damaging	Het
Cma2	A	C	14: 56,211,256 (GRCm39)	I239L	probably damaging	Het
Cnot1	A	T	8: 96,482,854 (GRCm39)	M733K	probably benign	Het
Cyp2f2	A	G	7: 26,829,170 (GRCm39)	D225G	probably benign	Het
Cyp4f40	G	A	17: 32,890,158 (GRCm39)	R276H	probably benign	Het
Cytip	A	T	2: 58,041,141 (GRCm39)	F88L	probably damaging	Het
Dnaaf2	T	C	12: 69,244,776 (GRCm39)	N95S	probably damaging	Het
Dnah5	C	A	15: 28,328,025 (GRCm39)	T2133K	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Elapor2	G	A	5: 9,490,859 (GRCm39)	G623D	probably damaging	Het
Epn2	A	T	11: 61,436,988 (GRCm39)	S195T	probably benign	Het
Exoc3	A	T	13: 74,330,285 (GRCm39)	Y521N	possibly damaging	Het
Fbxo10	C	A	4: 45,058,970 (GRCm39)	V256L	probably damaging	Het
Fis1	A	T	5: 136,991,907 (GRCm39)	T34S	probably benign	Het
Gm10309	A	T	17: 86,806,161 (GRCm39)	C118S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hook1	T	A	4: 95,891,808 (GRCm39)	V340E	probably damaging	Het
Ifng	C	A	10: 118,277,128 (GRCm39)	H23Q	probably benign	Het
Lect2	C	T	13: 56,694,660 (GRCm39)	E32K	probably benign	Het
Lrp1	T	G	10: 127,388,733 (GRCm39)	T3239P	probably damaging	Het
Lrrc14b	T	A	13: 74,511,996 (GRCm39)	Y28F	probably benign	Het
Maml3	A	T	3: 51,763,791 (GRCm39)	V391E	possibly damaging	Het
Map3k8	C	T	18: 4,349,141 (GRCm39)	R59H	probably benign	Het
Med1	G	T	11: 98,070,884 (GRCm39)	L120I	possibly damaging	Het
Muc5b	C	A	7: 141,421,648 (GRCm39)	H4349N	possibly damaging	Het
Myo1h	C	T	5: 114,499,154 (GRCm39)	P110S	probably benign	Het
Nol10	T	G	12: 17,466,144 (GRCm39)	I513S	possibly damaging	Het
Nphs1	C	T	7: 30,180,875 (GRCm39)	S1093F	probably benign	Het
Or12e10	A	T	2: 87,641,097 (GRCm39)	N311I	probably damaging	Het
Or4b1b	T	C	2: 90,111,991 (GRCm39)	*309W	probably null	Het
Or56b1b	A	T	7: 108,164,334 (GRCm39)	S223T	possibly damaging	Het
Or5p72	A	T	7: 108,022,416 (GRCm39)	T213S	possibly damaging	Het
Or5w8	A	T	2: 87,688,040 (GRCm39)	I174F	probably damaging	Het
Pcdh17	A	T	14: 84,685,402 (GRCm39)	Y623F	possibly damaging	Het
Pdzd8	T	A	19: 59,289,826 (GRCm39)	I525F	probably benign	Het
Peak1	G	T	9: 56,113,917 (GRCm39)	Q1675K	probably benign	Het
Perm1	T	C	4: 156,302,290 (GRCm39)	V278A	probably benign	Het
Ppp2r5d	G	A	17: 46,998,527 (GRCm39)	R115C	probably damaging	Het
Rnf169	A	T	7: 99,574,690 (GRCm39)	L635Q	probably damaging	Het
Sacs	A	G	14: 61,440,692 (GRCm39)	T913A	probably benign	Het
Sh3bp1	A	T	15: 78,788,673 (GRCm39)	I233F	possibly damaging	Het
Skint9	T	G	4: 112,276,346 (GRCm39)	L8F	probably benign	Het
Slc1a4	A	T	11: 20,258,041 (GRCm39)	N360K	probably damaging	Het
Slc22a19	C	A	19: 7,659,219 (GRCm39)		probably null	Het
Smarcal1	T	C	1: 72,671,999 (GRCm39)	I840T	possibly damaging	Het
Spata13	A	G	14: 60,991,303 (GRCm39)	K1019E	possibly damaging	Het
Steap1	A	G	5: 5,790,700 (GRCm39)	S83P	possibly damaging	Het
Synj2bp	T	C	12: 81,551,382 (GRCm39)	H78R	probably damaging	Het
Tcstv7a	T	A	13: 120,289,924 (GRCm39)	I91F	probably benign	Het
Tjp3	T	C	10: 81,113,833 (GRCm39)	E475G	probably damaging	Het
Top3a	A	G	11: 60,644,768 (GRCm39)	V312A	probably benign	Het
Traip	C	A	9: 107,833,099 (GRCm39)	T45N	probably damaging	Het
Ttn	T	C	2: 76,573,691 (GRCm39)	Y25734C	probably damaging	Het
Unc79	T	A	12: 102,977,495 (GRCm39)	V166D	probably damaging	Het
Urgcp	C	A	11: 5,667,622 (GRCm39)	V282F	possibly damaging	Het
Vmn1r184	G	A	7: 25,966,734 (GRCm39)	S160N	probably benign	Het
Wdfy3	T	C	5: 102,033,059 (GRCm39)	D2231G	probably damaging	Het
Zan	C	T	5: 137,401,323 (GRCm39)	G4132D	unknown	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
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
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'- TGTAGCTTGCAACTCAGGTAG -3'
(R):5'- CCTTCTGAGAGGAGCCAAAAGG -3'

Sequencing Primer
(F):5'- CTTGCAACTCAGGTAGGGAGG -3'
(R):5'- AGGGAGTCTCTGGAAGCATCC -3'

Posted On

2022-07-18