Mutagenetix > Incidental Mutation

Incidental Mutation 'R7298:Slc22a6'

566828

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

045402-MU

Accession Numbers

Essential gene?

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

Stock #

R7298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8595403-8605663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8598684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 247 (A247E)

Ref Sequence

ENSEMBL: ENSMUSP00000010250 (fasta)

Gene Model

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

AlphaFold

Q8VC69

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010250
AA Change: A247E

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000010250
Gene: ENSMUSG00000024650
AA Change: A247E

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (52/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,807,106 (GRCm39)	T51S	probably benign	Het
Abcc1	A	G	16: 14,214,336 (GRCm39)	D204G	possibly damaging	Het
Acaa1b	C	T	9: 118,980,915 (GRCm39)	E172K	probably benign	Het
Adamts5	G	A	16: 85,696,806 (GRCm39)	T117I	probably benign	Het
Agmat	A	G	4: 141,474,275 (GRCm39)	E52G	possibly damaging	Het
Alg9	C	T	9: 50,690,361 (GRCm39)	A121V	probably damaging	Het
Atf7ip2	T	C	16: 10,027,032 (GRCm39)	I100T	possibly damaging	Het
Calm2	T	C	17: 87,750,165 (GRCm39)		probably null	Het
Cfap44	A	T	16: 44,301,775 (GRCm39)	M1838L	probably benign	Het
Cym	A	G	3: 107,127,009 (GRCm39)	Y49H	probably benign	Het
Dchs1	G	A	7: 105,404,338 (GRCm39)	R2735*	probably null	Het
Dnajc6	T	C	4: 101,463,808 (GRCm39)	I187T	probably benign	Het
Fam151a	G	T	4: 106,592,725 (GRCm39)	R69L	possibly damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Gm9922	C	A	14: 101,966,961 (GRCm39)	G97V	unknown	Het
Hacl1	A	T	14: 31,338,443 (GRCm39)	M378K	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv1-82	A	T	12: 115,916,574 (GRCm39)	I6N	possibly damaging	Het
Kctd19	A	C	8: 106,109,616 (GRCm39)	V942G	probably benign	Het
Lce1l	C	T	3: 92,757,483 (GRCm39)	C125Y	unknown	Het
Mmp8	T	C	9: 7,560,449 (GRCm39)	F42S	probably damaging	Het
Myom2	T	C	8: 15,148,411 (GRCm39)	L529P	probably damaging	Het
Nectin3	A	T	16: 46,268,759 (GRCm39)	Y548N	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or4c12b	T	C	2: 89,646,865 (GRCm39)	F59S	probably damaging	Het
Or6aa1	T	A	7: 86,044,131 (GRCm39)	T192S	probably damaging	Het
Otof	T	A	5: 30,545,614 (GRCm39)	I514F	probably damaging	Het
Pira12	T	A	7: 3,898,264 (GRCm39)	I353F	possibly damaging	Het
Plch1	G	T	3: 63,623,458 (GRCm39)	S603*	probably null	Het
Ppa1	T	A	10: 61,502,691 (GRCm39)	D171E	probably benign	Het
Pramel23	C	A	4: 143,425,075 (GRCm39)	D123Y	probably benign	Het
Prss34	T	C	17: 25,518,737 (GRCm39)	C240R	probably damaging	Het
Ptpre	A	G	7: 135,285,016 (GRCm39)	D714G	probably damaging	Het
Ranbp9	A	G	13: 43,633,936 (GRCm39)	F157L	probably benign	Het
Rbbp6	A	G	7: 122,600,417 (GRCm39)	K1475E	unknown	Het
Retnlg	A	G	16: 48,693,237 (GRCm39)	N5D	probably benign	Het
Rev1	T	C	1: 38,092,185 (GRCm39)	T1245A	probably damaging	Het
Rngtt	G	T	4: 33,362,927 (GRCm39)	L360F	probably damaging	Het
Scrib	A	C	15: 75,936,610 (GRCm39)	V447G	probably damaging	Het
Slc25a20	G	A	9: 108,539,343 (GRCm39)		probably benign	Het
Spag16	T	A	1: 69,958,585 (GRCm39)		probably null	Het
Stx3	C	T	19: 11,767,412 (GRCm39)	W87*	probably null	Het
Syngap1	T	A	17: 27,181,961 (GRCm39)	M1158K	possibly damaging	Het
Tmed9	C	A	13: 55,741,107 (GRCm39)	H41N	possibly damaging	Het
Trav15-2-dv6-2	G	A	14: 53,887,242 (GRCm39)	S54N	probably benign	Het
Tyk2	C	T	9: 21,020,156 (GRCm39)	V1001I	probably benign	Het
Ugt8a	A	G	3: 125,709,065 (GRCm39)	V15A	probably benign	Het
Uhrf2	A	G	19: 30,065,949 (GRCm39)	E661G	probably benign	Het
Vmn2r77	T	A	7: 86,449,979 (GRCm39)	I75N	probably benign	Het
Zfp346	T	G	13: 55,278,416 (GRCm39)	V258G	probably damaging	Het
Zfp87	T	A	13: 74,520,513 (GRCm39)	K188N	possibly damaging	Het
Zgrf1	C	A	3: 127,377,299 (GRCm39)	S848*	probably null	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
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
R8346:Slc22a6	UTSW	19	8,599,169 (GRCm39)	missense	probably damaging	1.00
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'- TCCCATCTAGCAGCCCAATG -3'
(R):5'- TTCCTTCAGGGCAAAACCTACC -3'

Sequencing Primer
(F):5'- TCTAGCAGCCCAATGACTCC -3'
(R):5'- CTTGGCTTCAGAATCTACTCAACAG -3'

Posted On

2019-06-26