Mutagenetix > Incidental Mutation

Incidental Mutation 'R0306:Slc22a1'

35820

Institutional Source

Beutler Lab

Gene Symbol

Slc22a1

Ensembl Gene

ENSMUSG00000023829

Gene Name

solute carrier family 22 (organic cation transporter), member 1

Synonyms

Oct1, Lx1, Orct1, Oct1, Orct

MMRRC Submission

038517-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0306 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

12867756-12894716 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12881485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 335 (F335L)

Ref Sequence

ENSEMBL: ENSMUSP00000024596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024596]

AlphaFold

O08966

Predicted Effect

probably benign
Transcript: ENSMUST00000024596
AA Change: F335L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000024596
Gene: ENSMUSG00000023829
AA Change: F335L

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:MFS_1	134	482	1.3e-25	PFAM
Pfam:Sugar_tr	143	529	5.3e-33	PFAM

Meta Mutation Damage Score

0.1496

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (61/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele are viable, healthy, and fertile but exhibit an impaired liver uptake and direct intestinal excretion of substrate organic cations. Mice homozygous for a different knockout allele show alterations in metformin disposition and its glucose-lowering effects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	T	C	6: 48,953,020 (GRCm39)	V315A	probably damaging	Het
BC028528	C	T	3: 95,797,132 (GRCm39)		probably benign	Het
Bspry	T	C	4: 62,414,394 (GRCm39)	F329S	probably damaging	Het
Cd209a	A	G	8: 3,795,535 (GRCm39)	Y120H	probably benign	Het
Ces1f	T	C	8: 94,003,172 (GRCm39)		probably benign	Het
Cfap52	T	C	11: 67,844,896 (GRCm39)	N58D	probably benign	Het
Cfap74	G	A	4: 155,549,896 (GRCm39)		probably benign	Het
Chst8	T	C	7: 34,374,723 (GRCm39)	E372G	probably benign	Het
Cplane1	T	C	15: 8,209,373 (GRCm39)	V270A	probably damaging	Het
Ddx49	A	G	8: 70,747,322 (GRCm39)		probably benign	Het
Ddx52	G	T	11: 83,835,474 (GRCm39)	L133F	probably benign	Het
Defb26	T	A	2: 152,349,888 (GRCm39)	I131F	unknown	Het
Dip2c	T	A	13: 9,654,635 (GRCm39)	S719T	probably benign	Het
Dnmt3a	A	G	12: 3,916,096 (GRCm39)	S94G	possibly damaging	Het
Dytn	G	A	1: 63,724,272 (GRCm39)	P3S	possibly damaging	Het
Fmn2	T	C	1: 174,437,050 (GRCm39)		probably benign	Het
Gal3st1	T	A	11: 3,948,546 (GRCm39)	L251Q	probably damaging	Het
Gm19684	A	T	17: 36,438,300 (GRCm39)		probably benign	Het
Il15	T	A	8: 83,061,083 (GRCm39)		probably benign	Het
Jag1	C	T	2: 136,927,855 (GRCm39)	G852D	probably damaging	Het
Kbtbd4	A	G	2: 90,744,530 (GRCm39)		probably benign	Het
Kdm3b	C	A	18: 34,937,070 (GRCm39)	Q451K	probably benign	Het
Lrfn2	A	T	17: 49,403,283 (GRCm39)	I469F	probably damaging	Het
Mep1a	A	T	17: 43,813,534 (GRCm39)		probably benign	Het
Morn5	T	C	2: 35,944,986 (GRCm39)	F70S	probably damaging	Het
Nav2	C	A	7: 49,195,651 (GRCm39)	P1009Q	probably benign	Het
Noc3l	T	C	19: 38,796,094 (GRCm39)	Y334C	probably damaging	Het
Nsun4	A	T	4: 115,910,019 (GRCm39)	Y180*	probably null	Het
Nup210l	T	C	3: 90,114,675 (GRCm39)	I1750T	probably benign	Het
Or51s1	A	T	7: 102,559,010 (GRCm39)	I12N	probably benign	Het
Or5p53	A	T	7: 107,532,907 (GRCm39)	Y60F	probably damaging	Het
Or8u9	T	A	2: 86,002,060 (GRCm39)	I34F	possibly damaging	Het
Parp14	A	G	16: 35,676,944 (GRCm39)	L1008P	probably benign	Het
Paxbp1	A	G	16: 90,819,003 (GRCm39)	V759A	possibly damaging	Het
Prdm10	C	A	9: 31,227,520 (GRCm39)	Q42K	probably damaging	Het
Prkcsh	T	C	9: 21,917,822 (GRCm39)		probably benign	Het
Psmg1	A	G	16: 95,788,540 (GRCm39)	C138R	probably damaging	Het
Ptprb	T	C	10: 116,179,893 (GRCm39)	M1437T	probably benign	Het
Ryr3	A	G	2: 112,606,000 (GRCm39)		probably null	Het
Serpinf1	T	C	11: 75,304,761 (GRCm39)	Y200C	probably damaging	Het
Shox2	T	C	3: 66,881,167 (GRCm39)	H130R	probably damaging	Het
Slc44a5	A	G	3: 153,975,638 (GRCm39)	N683S	probably damaging	Het
Slc9a9	A	T	9: 95,019,987 (GRCm39)	T519S	probably benign	Het
Smarca2	T	A	19: 26,618,013 (GRCm39)	L348Q	probably damaging	Het
Sorbs1	T	C	19: 40,332,855 (GRCm39)	D521G	possibly damaging	Het
Sorbs2	A	T	8: 46,248,767 (GRCm39)	T593S	probably benign	Het
Srp19	T	C	18: 34,467,629 (GRCm39)		probably benign	Het
Stk35	T	A	2: 129,643,683 (GRCm39)	Y222*	probably null	Het
Syt10	T	G	15: 89,711,191 (GRCm39)	K114T	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Trpc4ap	A	G	2: 155,478,180 (GRCm39)	V662A	probably benign	Het
Ttll4	G	A	1: 74,735,916 (GRCm39)	R1066Q	probably benign	Het
Tulp2	C	T	7: 45,168,000 (GRCm39)		probably benign	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Vmn1r230	T	A	17: 21,066,895 (GRCm39)	I28K	possibly damaging	Het
Vmn2r118	A	C	17: 55,915,616 (GRCm39)	F445V	possibly damaging	Het
Zfp142	C	T	1: 74,609,341 (GRCm39)	E1485K	probably damaging	Het
Zfp819	C	A	7: 43,266,621 (GRCm39)	A292E	possibly damaging	Het

Other mutations in Slc22a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Slc22a1	APN	17	12,869,749 (GRCm39)	splice site	probably benign
IGL02313:Slc22a1	APN	17	12,894,387 (GRCm39)	nonsense	probably null
IGL02578:Slc22a1	APN	17	12,886,126 (GRCm39)	missense	probably damaging	1.00
R0017:Slc22a1	UTSW	17	12,878,646 (GRCm39)	missense	probably damaging	1.00
R0136:Slc22a1	UTSW	17	12,881,483 (GRCm39)	missense	probably benign	0.03
R0408:Slc22a1	UTSW	17	12,875,828 (GRCm39)	missense	probably damaging	1.00
R0487:Slc22a1	UTSW	17	12,881,487 (GRCm39)	nonsense	probably null
R0654:Slc22a1	UTSW	17	12,881,679 (GRCm39)	missense	probably damaging	1.00
R0811:Slc22a1	UTSW	17	12,885,505 (GRCm39)	splice site	probably benign
R0866:Slc22a1	UTSW	17	12,875,933 (GRCm39)	missense	probably benign	0.00
R1414:Slc22a1	UTSW	17	12,881,487 (GRCm39)	missense	probably damaging	1.00
R1490:Slc22a1	UTSW	17	12,881,780 (GRCm39)	splice site	probably null
R4801:Slc22a1	UTSW	17	12,894,422 (GRCm39)	missense	probably damaging	1.00
R4802:Slc22a1	UTSW	17	12,894,422 (GRCm39)	missense	probably damaging	1.00
R5101:Slc22a1	UTSW	17	12,886,129 (GRCm39)	missense	probably damaging	1.00
R5147:Slc22a1	UTSW	17	12,869,838 (GRCm39)	missense	probably damaging	1.00
R6816:Slc22a1	UTSW	17	12,871,370 (GRCm39)	missense	possibly damaging	0.83
R6875:Slc22a1	UTSW	17	12,886,192 (GRCm39)	nonsense	probably null
R7263:Slc22a1	UTSW	17	12,885,587 (GRCm39)	missense	probably damaging	1.00
R7295:Slc22a1	UTSW	17	12,875,892 (GRCm39)	missense	probably benign	0.09
R7947:Slc22a1	UTSW	17	12,871,310 (GRCm39)	missense	probably benign	0.00
R9123:Slc22a1	UTSW	17	12,878,598 (GRCm39)	missense	probably benign	0.00
R9125:Slc22a1	UTSW	17	12,878,598 (GRCm39)	missense	probably benign	0.00
R9336:Slc22a1	UTSW	17	12,886,142 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGAAGACTCAGGCGTCAGGAC -3'
(R):5'- AGCCATGCATCGAACGGATCAC -3'

Sequencing Primer
(F):5'- CGTCAGGACTGTGCTGAG -3'
(R):5'- TCGAACGGATCACTCTTGCTAAG -3'

Posted On

2013-05-09