Mutagenetix > Incidental Mutation

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

Oct1, Lx1, Orct1, Oct1, Orct

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

12867756-12894716 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 12894387 bp (GRCm39)

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]

AlphaFold

O08966

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: 157,653,571 (GRCm39)	N136K	probably damaging	Het
Aph1b	A	T	9: 66,697,955 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,583,718 (GRCm39)	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,857,160 (GRCm39)	N400S	probably damaging	Het
Brca2	C	A	5: 150,462,126 (GRCm39)	S630Y	probably damaging	Het
Chd6	T	A	2: 160,807,595 (GRCm39)	E1873V	probably damaging	Het
Chrna10	T	C	7: 101,761,236 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,739,328 (GRCm39)	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,639,770 (GRCm39)	N264S	probably damaging	Het
Cyria	A	G	12: 12,414,752 (GRCm39)	T248A	possibly damaging	Het
Dgkg	A	G	16: 22,388,980 (GRCm39)		probably benign	Het
Dpysl2	T	G	14: 67,061,839 (GRCm39)	M256L	probably benign	Het
Dsp	G	T	13: 38,380,499 (GRCm39)	E1816*	probably null	Het
Fam13b	T	C	18: 34,587,709 (GRCm39)	K530E	probably damaging	Het
Fastk	T	C	5: 24,648,090 (GRCm39)	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,166,420 (GRCm39)	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,669,718 (GRCm39)	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,343,617 (GRCm39)	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,235,700 (GRCm39)	T167A	probably benign	Het
Igsf10	A	G	3: 59,238,111 (GRCm39)	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,865 (GRCm39)		probably null	Het
Krt31	A	G	11: 99,939,222 (GRCm39)	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,493,070 (GRCm39)		probably benign	Het
Mfn2	T	A	4: 147,969,947 (GRCm39)	I375F	probably damaging	Het
Mfrp	A	T	9: 44,014,171 (GRCm39)	I180F	probably damaging	Het
Msh3	T	C	13: 92,485,820 (GRCm39)	E168G	possibly damaging	Het
Naa16	A	T	14: 79,622,108 (GRCm39)	V77D	probably damaging	Het
Nav2	T	C	7: 49,208,521 (GRCm39)	S1570P	probably damaging	Het
Niban3	A	G	8: 72,055,504 (GRCm39)	R305G	possibly damaging	Het
Numa1	C	T	7: 101,649,439 (GRCm39)	R1057*	probably null	Het
Nup210l	G	A	3: 90,030,099 (GRCm39)	A271T	probably damaging	Het
Ogdh	T	C	11: 6,305,400 (GRCm39)	V965A	probably damaging	Het
Or10h28	C	A	17: 33,488,639 (GRCm39)	Q314K	probably benign	Het
Or4m1	A	T	14: 50,557,473 (GRCm39)	V273E	probably damaging	Het
Or6c219	A	G	10: 129,781,772 (GRCm39)	L53P	probably damaging	Het
Or7g21	A	T	9: 19,032,671 (GRCm39)	N140I	probably damaging	Het
Or8b51	T	A	9: 38,569,362 (GRCm39)	I109F	probably damaging	Het
Pdp2	A	T	8: 105,321,531 (GRCm39)	Q460L	probably benign	Het
Pex5l	T	C	3: 33,047,141 (GRCm39)	T270A	probably benign	Het
Pkp4	C	T	2: 59,140,598 (GRCm39)	Q435*	probably null	Het
Prss32	G	A	17: 24,075,096 (GRCm39)	V149M	probably benign	Het
Riox2	C	A	16: 59,309,780 (GRCm39)	P378Q	probably benign	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,781,521 (GRCm39)	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,652,321 (GRCm39)	R24H	possibly damaging	Het
Slc24a5	C	T	2: 124,927,567 (GRCm39)		probably benign	Het
Tex101	C	T	7: 24,367,750 (GRCm39)	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,501,956 (GRCm39)	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,492,388 (GRCm39)	E382G	probably damaging	Het
Uggt1	A	T	1: 36,223,565 (GRCm39)	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,214,376 (GRCm39)	I259V	probably damaging	Het
Xpo1	T	A	11: 23,227,065 (GRCm39)	N131K	probably damaging	Het
Zfp579	C	T	7: 4,997,432 (GRCm39)	V160M	probably benign	Het
Zfp697	A	G	3: 98,332,766 (GRCm39)	D64G	probably benign	Het
Zfp974	T	C	7: 27,611,678 (GRCm39)	T16A	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
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
R0306:Slc22a1	UTSW	17	12,881,485 (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

Posted On

2015-04-16