Mutagenetix > Incidental Mutation

Incidental Mutation 'R8346:Slc22a6'

645267

Institutional Source

Beutler Lab

Gene Symbol

Slc22a6

Ensembl Gene

ENSMUSG00000024650

Gene Name

solute carrier family 22 (organic anion transporter), member 6

Synonyms

mOat1, Orctl1, NKT, Oat1

MMRRC Submission

067802-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8346 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8595403-8605663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 8599169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 267 (R267G)

Ref Sequence

ENSEMBL: ENSMUSP00000010250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010250]

AlphaFold

Q8VC69

Predicted Effect

probably damaging
Transcript: ENSMUST00000010250
AA Change: R267G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000010250
Gene: ENSMUSG00000024650
AA Change: R267G

Domain	Start	End	E-Value	Type
Pfam:MFS_1	107	467	2.4e-25	PFAM
Pfam:Sugar_tr	107	512	8e-33	PFAM
low complexity region	520	531	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene may result in increased thymus weight or impaired renal organic anion excretion for a subset of organic anions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	G	14: 59,380,221 (GRCm39)	S26P	probably damaging	Het
Aco1	T	A	4: 40,177,876 (GRCm39)	M299K	probably damaging	Het
Acox1	G	T	11: 116,069,099 (GRCm39)	T382N	possibly damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
App	G	T	16: 84,900,145 (GRCm39)	R102S	unknown	Het
Chd1l	T	C	3: 97,469,959 (GRCm39)	N856D	probably benign	Het
Col11a1	A	G	3: 114,005,818 (GRCm39)	D1650G	unknown	Het
Cx3cl1	T	C	8: 95,507,168 (GRCm39)	V391A	probably damaging	Het
Cyp11b2	T	C	15: 74,723,617 (GRCm39)	Y378C	probably damaging	Het
Cyp26b1	T	C	6: 84,554,150 (GRCm39)	S156G	probably benign	Het
Cyp3a11	C	T	5: 145,795,612 (GRCm39)	M446I	probably damaging	Het
D7Ertd443e	G	A	7: 133,950,485 (GRCm39)	T396I	possibly damaging	Het
Dusp4	C	A	8: 35,275,092 (GRCm39)	N70K	possibly damaging	Het
Dync1h1	G	A	12: 110,632,226 (GRCm39)	A4499T	probably benign	Het
Eno2	T	C	6: 124,740,758 (GRCm39)	D266G	possibly damaging	Het
Eomes	T	C	9: 118,314,036 (GRCm39)	S694P	probably benign	Het
Fmo4	A	G	1: 162,621,792 (GRCm39)	V473A	probably benign	Het
Fmo5	T	A	3: 97,552,962 (GRCm39)	N303K	probably damaging	Het
Garin1b	G	A	6: 29,334,030 (GRCm39)	C296Y	probably damaging	Het
Gdf10	A	G	14: 33,653,802 (GRCm39)	E103G	probably benign	Het
Gjb6	T	C	14: 57,362,259 (GRCm39)	M1V	probably null	Het
Gm17067	A	G	7: 42,358,073 (GRCm39)	L143P	probably damaging	Het
Helz	A	G	11: 107,563,399 (GRCm39)	D1613G	unknown	Het
Hmgn3	T	C	9: 82,993,159 (GRCm39)	K50E	probably damaging	Het
Hoxc11	G	A	15: 102,863,186 (GRCm39)	G76S	possibly damaging	Het
Ighv1-9	A	T	12: 114,547,448 (GRCm39)	M31K	probably benign	Het
Ighv2-2	A	T	12: 113,552,189 (GRCm39)	C16*	probably null	Het
Kidins220	T	G	12: 25,086,533 (GRCm39)	F989C	probably damaging	Het
Krtap28-13	A	G	1: 83,039,086 (GRCm39)	K124E	unknown	Het
Mast4	A	G	13: 102,887,986 (GRCm39)	V1141A	probably damaging	Het
Myb	A	T	10: 21,002,136 (GRCm39)	M735K	probably benign	Het
Myo3a	T	A	2: 22,448,434 (GRCm39)		probably null	Het
Naa60	G	A	16: 3,718,507 (GRCm39)	G113D	probably damaging	Het
Nfatc1	T	C	18: 80,725,382 (GRCm39)	I461V	probably benign	Het
Nphp4	C	A	4: 152,645,778 (GRCm39)	A1262D	probably damaging	Het
Obscn	A	T	11: 58,976,007 (GRCm39)	V2040E	possibly damaging	Het
Or1j4	A	G	2: 36,740,351 (GRCm39)	I98V	probably benign	Het
Or9a2	A	G	6: 41,749,057 (GRCm39)	Y59H	probably damaging	Het
Ormdl1	T	A	1: 53,344,626 (GRCm39)	F63I	possibly damaging	Het
Otulinl	A	G	15: 27,664,644 (GRCm39)	Y76H	probably damaging	Het
Phc1	C	T	6: 122,302,774 (GRCm39)	V250M	probably damaging	Het
Pik3c2b	G	A	1: 133,017,984 (GRCm39)	V949M	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prmt8	T	A	6: 127,688,810 (GRCm39)	M187L	probably damaging	Het
Ptpn3	T	C	4: 57,225,547 (GRCm39)	I513V	probably damaging	Het
Rad17	A	C	13: 100,781,681 (GRCm39)	S39A	possibly damaging	Het
Rbck1	T	C	2: 152,160,700 (GRCm39)	Y412C	probably damaging	Het
Rfc3	C	A	5: 151,569,100 (GRCm39)	M152I	probably damaging	Het
Scn11a	C	A	9: 119,608,047 (GRCm39)	C1028F	probably damaging	Het
Sfmbt2	C	A	2: 10,466,236 (GRCm39)	P357Q	probably damaging	Het
St3gal1	G	A	15: 66,985,511 (GRCm39)	R48C	probably damaging	Het
Stmnd1	A	G	13: 46,452,936 (GRCm39)	N204S	probably benign	Het
Tdrd1	T	C	19: 56,830,699 (GRCm39)	V244A	probably benign	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r25	T	C	6: 123,802,350 (GRCm39)	T518A	probably benign	Het
Xdh	T	C	17: 74,220,938 (GRCm39)	D597G	probably damaging	Het
Zfp457	G	A	13: 67,441,862 (GRCm39)	Q238*	probably null	Het
Zfp647	T	C	15: 76,795,928 (GRCm39)	D244G	probably damaging	Het
Zfp870	T	A	17: 33,102,843 (GRCm39)	E162V	possibly damaging	Het

Other mutations in Slc22a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Slc22a6	APN	19	8,599,232 (GRCm39)	missense	probably benign	0.14
IGL00825:Slc22a6	APN	19	8,595,721 (GRCm39)	missense	possibly damaging	0.94
IGL01362:Slc22a6	APN	19	8,598,572 (GRCm39)	missense	possibly damaging	0.69
IGL01843:Slc22a6	APN	19	8,603,578 (GRCm39)	utr 3 prime	probably benign
IGL02583:Slc22a6	APN	19	8,600,980 (GRCm39)	missense	possibly damaging	0.79
R1004:Slc22a6	UTSW	19	8,595,763 (GRCm39)	missense	probably damaging	1.00
R1775:Slc22a6	UTSW	19	8,596,471 (GRCm39)	critical splice donor site	probably null
R1911:Slc22a6	UTSW	19	8,599,246 (GRCm39)	missense	probably benign
R2365:Slc22a6	UTSW	19	8,596,761 (GRCm39)	missense	probably benign
R3406:Slc22a6	UTSW	19	8,598,675 (GRCm39)	missense	probably damaging	1.00
R4106:Slc22a6	UTSW	19	8,595,874 (GRCm39)	missense	probably benign
R4693:Slc22a6	UTSW	19	8,601,016 (GRCm39)	missense	probably damaging	1.00
R5094:Slc22a6	UTSW	19	8,603,541 (GRCm39)	missense	probably damaging	1.00
R5347:Slc22a6	UTSW	19	8,595,917 (GRCm39)	missense	possibly damaging	0.94
R5360:Slc22a6	UTSW	19	8,596,786 (GRCm39)	missense	probably damaging	1.00
R5667:Slc22a6	UTSW	19	8,599,148 (GRCm39)	critical splice acceptor site	probably null
R5810:Slc22a6	UTSW	19	8,601,222 (GRCm39)	missense	probably damaging	1.00
R6176:Slc22a6	UTSW	19	8,599,161 (GRCm39)	missense	probably damaging	1.00
R6336:Slc22a6	UTSW	19	8,599,494 (GRCm39)	missense	probably benign	0.02
R6864:Slc22a6	UTSW	19	8,595,805 (GRCm39)	missense	probably damaging	1.00
R6954:Slc22a6	UTSW	19	8,599,460 (GRCm39)	missense	probably benign	0.02
R7298:Slc22a6	UTSW	19	8,598,684 (GRCm39)	missense	possibly damaging	0.49
R7305:Slc22a6	UTSW	19	8,599,522 (GRCm39)	critical splice donor site	probably null
R7681:Slc22a6	UTSW	19	8,603,493 (GRCm39)	missense	probably benign	0.03
R7749:Slc22a6	UTSW	19	8,599,260 (GRCm39)	missense	possibly damaging	0.48
R7937:Slc22a6	UTSW	19	8,601,253 (GRCm39)	missense	probably benign	0.07
R8347:Slc22a6	UTSW	19	8,599,169 (GRCm39)	missense	probably damaging	1.00
R8348:Slc22a6	UTSW	19	8,599,169 (GRCm39)	missense	probably damaging	1.00
R8363:Slc22a6	UTSW	19	8,596,386 (GRCm39)	missense	probably benign
R8698:Slc22a6	UTSW	19	8,600,889 (GRCm39)	missense	probably benign
R9431:Slc22a6	UTSW	19	8,598,596 (GRCm39)	missense	probably benign	0.10
R9602:Slc22a6	UTSW	19	8,598,560 (GRCm39)	nonsense	probably null
R9774:Slc22a6	UTSW	19	8,603,134 (GRCm39)	missense	probably benign	0.00
Z1088:Slc22a6	UTSW	19	8,599,197 (GRCm39)	missense	probably benign	0.03
Z1176:Slc22a6	UTSW	19	8,600,907 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CTGGGTTGGAAAATGGGTCTTTAAC -3'
(R):5'- TGATGGCATGAGCGTGACTC -3'

Sequencing Primer
(F):5'- GAAAATGGGTCTTTAACAAGCTGAC -3'
(R):5'- GGAACCTTTTGTATAACCTCTGAGGC -3'

Posted On

2020-09-02