Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02313:Slc22a1'

287914

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc22a1

Ensembl Gene

ENSMUSG00000023829

Gene Name

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

Synonyms

Lx1, Oct1, Oct1, Orct1, Orct

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

12648874-12675838 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 12675500 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 54 (G54*)

Ref Sequence

ENSEMBL: ENSMUSP00000024596 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000024596
AA Change: G54*

SMART Domains

Protein: ENSMUSP00000024596
Gene: ENSMUSG00000023829
AA Change: G54*

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,947,934	N136K	probably damaging	Het
Aph1b	A	T	9: 66,790,673		probably benign	Het
Atf7ip	A	G	6: 136,606,720	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,949,853	N400S	probably damaging	Het
Brca2	C	A	5: 150,538,661	S630Y	probably damaging	Het
Chd6	T	A	2: 160,965,675	E1873V	probably damaging	Het
Chrna10	T	C	7: 102,112,029		probably benign	Het
Col6a3	A	G	1: 90,811,606	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,810,705	N264S	probably damaging	Het
Dgkg	A	G	16: 22,570,230		probably benign	Het
Dpysl2	T	G	14: 66,824,390	M256L	probably benign	Het
Dsp	G	T	13: 38,196,523	E1816*	probably null	Het
Fam129c	A	G	8: 71,602,860	R305G	possibly damaging	Het
Fam13b	T	C	18: 34,454,656	K530E	probably damaging	Het
Fam49a	A	G	12: 12,364,751	T248A	possibly damaging	Het
Fastk	T	C	5: 24,443,092	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,337,352	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,778,892	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,453,605	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,508,389	T167A	probably benign	Het
Igsf10	A	G	3: 59,330,690	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,866		probably null	Het
Krt31	A	G	11: 100,048,396	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,516,088		probably benign	Het
Mfn2	T	A	4: 147,885,490	I375F	probably damaging	Het
Mfrp	A	T	9: 44,102,874	I180F	probably damaging	Het
Msh3	T	C	13: 92,349,312	E168G	possibly damaging	Het
Naa16	A	T	14: 79,384,668	V77D	probably damaging	Het
Nav2	T	C	7: 49,558,773	S1570P	probably damaging	Het
Numa1	C	T	7: 102,000,232	R1057*	probably null	Het
Nup210l	G	A	3: 90,122,792	A271T	probably damaging	Het
Ogdh	T	C	11: 6,355,400	V965A	probably damaging	Het
Olfr63	C	A	17: 33,269,665	Q314K	probably benign	Het
Olfr734	A	T	14: 50,320,016	V273E	probably damaging	Het
Olfr818	A	G	10: 129,945,903	L53P	probably damaging	Het
Olfr836	A	T	9: 19,121,375	N140I	probably damaging	Het
Olfr916	T	A	9: 38,658,066	I109F	probably damaging	Het
Pdp2	A	T	8: 104,594,899	Q460L	probably benign	Het
Pex5l	T	C	3: 32,992,992	T270A	probably benign	Het
Pkp4	C	T	2: 59,310,254	Q435*	probably null	Het
Prss32	G	A	17: 23,856,122	V149M	probably benign	Het
Riox2	C	A	16: 59,489,417	P378Q	probably benign	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,905,525	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,824,755	R24H	possibly damaging	Het
Slc24a5	C	T	2: 125,085,647		probably benign	Het
Tex101	C	T	7: 24,668,325	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,681,593	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,650,468	E382G	probably damaging	Het
Uggt1	A	T	1: 36,184,484	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,565,168	I259V	probably damaging	Het
Xpo1	T	A	11: 23,277,065	N131K	probably damaging	Het
Zfp579	C	T	7: 4,994,433	V160M	probably benign	Het
Zfp697	A	G	3: 98,425,450	D64G	probably benign	Het
Zfp974	T	C	7: 27,912,253	T16A	possibly damaging	Het

Other mutations in Slc22a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Slc22a1	APN	17	12650862	splice site	probably benign
IGL02578:Slc22a1	APN	17	12667239	missense	probably damaging	1.00
R0017:Slc22a1	UTSW	17	12659759	missense	probably damaging	1.00
R0136:Slc22a1	UTSW	17	12662596	missense	probably benign	0.03
R0306:Slc22a1	UTSW	17	12662598	missense	probably benign	0.03
R0408:Slc22a1	UTSW	17	12656941	missense	probably damaging	1.00
R0487:Slc22a1	UTSW	17	12662600	nonsense	probably null
R0654:Slc22a1	UTSW	17	12662792	missense	probably damaging	1.00
R0811:Slc22a1	UTSW	17	12666618	splice site	probably benign
R0866:Slc22a1	UTSW	17	12657046	missense	probably benign	0.00
R1414:Slc22a1	UTSW	17	12662600	missense	probably damaging	1.00
R1490:Slc22a1	UTSW	17	12662893	splice site	probably null
R4801:Slc22a1	UTSW	17	12675535	missense	probably damaging	1.00
R4802:Slc22a1	UTSW	17	12675535	missense	probably damaging	1.00
R5101:Slc22a1	UTSW	17	12667242	missense	probably damaging	1.00
R5147:Slc22a1	UTSW	17	12650951	missense	probably damaging	1.00
R6816:Slc22a1	UTSW	17	12652483	missense	possibly damaging	0.83
R6875:Slc22a1	UTSW	17	12667305	nonsense	probably null
R7263:Slc22a1	UTSW	17	12666700	missense	probably damaging	1.00
R7295:Slc22a1	UTSW	17	12657005	missense	probably benign	0.09

Posted On

2015-04-16