Mutagenetix > Incidental Mutation

Incidental Mutation 'R6954:Slc22a6'

541396

Institutional Source

Beutler Lab

Gene Symbol

Slc22a6

Ensembl Gene

ENSMUSG00000024650

Gene Name

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

Synonyms

NKT, Oat1, mOat1, Orctl1

MMRRC Submission

045066-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6954 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8617996-8628299 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8622096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 320 (A320T)

Ref Sequence

ENSEMBL: ENSMUSP00000010250 (fasta)

Gene Model

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

AlphaFold

Q8VC69

Predicted Effect

probably benign
Transcript: ENSMUST00000010250
AA Change: A320T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000010250
Gene: ENSMUSG00000024650
AA Change: A320T

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: 99.3%
20x: 97.5%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	T	A	11: 58,608,488 (GRCm38)	Y168F	probably benign	Het
4930451I11Rik	A	T	7: 126,830,637 (GRCm38)		probably null	Het
Alox5	A	C	6: 116,420,280 (GRCm38)	Y314*	probably null	Het
Ap4e1	T	C	2: 127,064,951 (GRCm38)	S1044P	probably benign	Het
Ash2l	A	G	8: 25,822,768 (GRCm38)	V391A	possibly damaging	Het
B4galnt4	A	G	7: 141,067,232 (GRCm38)	T326A	probably benign	Het
Ccm2	T	A	11: 6,594,239 (GRCm38)	I345N	probably damaging	Het
Cntnap3	G	A	13: 64,748,559 (GRCm38)	H1034Y	probably benign	Het
Cpsf1	A	G	15: 76,599,496 (GRCm38)	L849S	probably damaging	Het
Ctrb1	A	G	8: 111,686,664 (GRCm38)	S239P	probably damaging	Het
D13Ertd608e	A	G	13: 119,846,130 (GRCm38)	D20G	possibly damaging	Het
Dennd1b	T	A	1: 139,168,945 (GRCm38)		probably benign	Het
Dnah17	A	G	11: 118,066,432 (GRCm38)	I2773T	probably damaging	Het
Eif2b2	T	A	12: 85,226,043 (GRCm38)	F267L	probably damaging	Het
Fcrls	A	G	3: 87,263,676 (GRCm38)		probably benign	Het
Furin	G	T	7: 80,396,964 (GRCm38)	D181E	possibly damaging	Het
Gm29106	T	A	1: 118,200,587 (GRCm38)	C670S	probably damaging	Het
Gm6309	A	T	5: 146,168,490 (GRCm38)	D204E	possibly damaging	Het
Hsf2	T	A	10: 57,504,643 (GRCm38)	I191N	probably damaging	Het
Hspa12a	T	C	19: 58,799,692 (GRCm38)	D566G	probably benign	Het
Igf1	G	C	10: 87,864,860 (GRCm38)	V49L	probably damaging	Het
Igfbpl1	C	T	4: 45,826,663 (GRCm38)	C44Y	probably damaging	Het
Letm1	G	A	5: 33,782,507 (GRCm38)	R16C	probably benign	Het
Marf1	A	G	16: 14,138,520 (GRCm38)	V819A	probably damaging	Het
Mfsd4b4	A	T	10: 39,891,952 (GRCm38)	S428T	probably benign	Het
Myo1d	T	C	11: 80,674,957 (GRCm38)	I347M	probably benign	Het
Myo9b	A	G	8: 71,290,819 (GRCm38)	I175V	probably damaging	Het
Naip5	A	T	13: 100,223,414 (GRCm38)	V438E	probably damaging	Het
Nup205	T	A	6: 35,208,109 (GRCm38)	V768E	possibly damaging	Het
Olfr1015	T	A	2: 85,786,382 (GRCm38)	Y290*	probably null	Het
Olfr731	A	T	14: 50,238,110 (GRCm38)	Y258*	probably null	Het
Pcdh15	C	T	10: 74,645,989 (GRCm38)	H1651Y	possibly damaging	Het
Pdgfra	A	T	5: 75,173,394 (GRCm38)	Q376L	possibly damaging	Het
Pign	T	C	1: 105,553,897 (GRCm38)	I791M	probably benign	Het
Pik3c2b	T	G	1: 133,066,303 (GRCm38)	S2A	possibly damaging	Het
Pip5k1a	A	T	3: 95,068,247 (GRCm38)	I304K	probably damaging	Het
Pkdrej	A	T	15: 85,817,853 (GRCm38)	L1294*	probably null	Het
Pprc1	T	C	19: 46,064,433 (GRCm38)	S797P	probably damaging	Het
Prob1	A	G	18: 35,654,268 (GRCm38)	V311A	probably benign	Het
Prune2	C	A	19: 17,000,021 (GRCm38)	T40K	probably damaging	Het
Rif1	T	G	2: 52,112,691 (GRCm38)	D2052E	probably benign	Het
Sall1	A	G	8: 89,032,891 (GRCm38)	V195A	probably damaging	Het
Scfd1	T	C	12: 51,427,946 (GRCm38)		probably null	Het
Sidt2	A	T	9: 45,952,850 (GRCm38)	N123K	probably benign	Het
Slc25a10	A	G	11: 120,498,147 (GRCm38)	H279R	probably benign	Het
Slc35b4	A	G	6: 34,158,621 (GRCm38)	V252A	probably benign	Het
Slc46a3	T	C	5: 147,886,340 (GRCm38)	T231A	probably benign	Het
Stxbp1	T	A	2: 32,801,893 (GRCm38)	H429L	probably damaging	Het
Tas2r134	C	T	2: 51,627,770 (GRCm38)	T87I	probably benign	Het
Tdpoz2	A	T	3: 93,652,275 (GRCm38)	L130H	probably damaging	Het
Tmem69	T	C	4: 116,554,724 (GRCm38)		probably null	Het
Tmppe	G	A	9: 114,405,523 (GRCm38)	V297I	probably benign	Het
Ung	G	T	5: 114,131,337 (GRCm38)	A37S	probably benign	Het
Vdac1	T	C	11: 52,386,373 (GRCm38)	Y237H	probably damaging	Het
Vgll4	T	C	6: 114,921,367 (GRCm38)	Y11C	probably damaging	Het
Vmn1r24	A	G	6: 57,956,452 (GRCm38)	I27T	probably benign	Het
Zfp280b	T	A	10: 76,039,688 (GRCm38)	M467K	probably benign	Het
Zkscan4	A	G	13: 21,484,365 (GRCm38)	I329V	probably damaging	Het

Other mutations in Slc22a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Slc22a6	APN	19	8,621,868 (GRCm38)	missense	probably benign	0.14
IGL00825:Slc22a6	APN	19	8,618,357 (GRCm38)	missense	possibly damaging	0.94
IGL01362:Slc22a6	APN	19	8,621,208 (GRCm38)	missense	possibly damaging	0.69
IGL01843:Slc22a6	APN	19	8,626,214 (GRCm38)	utr 3 prime	probably benign
IGL02583:Slc22a6	APN	19	8,623,616 (GRCm38)	missense	possibly damaging	0.79
R1004:Slc22a6	UTSW	19	8,618,399 (GRCm38)	missense	probably damaging	1.00
R1775:Slc22a6	UTSW	19	8,619,107 (GRCm38)	critical splice donor site	probably null
R1911:Slc22a6	UTSW	19	8,621,882 (GRCm38)	missense	probably benign
R2365:Slc22a6	UTSW	19	8,619,397 (GRCm38)	missense	probably benign
R3406:Slc22a6	UTSW	19	8,621,311 (GRCm38)	missense	probably damaging	1.00
R4106:Slc22a6	UTSW	19	8,618,510 (GRCm38)	missense	probably benign
R4693:Slc22a6	UTSW	19	8,623,652 (GRCm38)	missense	probably damaging	1.00
R5094:Slc22a6	UTSW	19	8,626,177 (GRCm38)	missense	probably damaging	1.00
R5347:Slc22a6	UTSW	19	8,618,553 (GRCm38)	missense	possibly damaging	0.94
R5360:Slc22a6	UTSW	19	8,619,422 (GRCm38)	missense	probably damaging	1.00
R5667:Slc22a6	UTSW	19	8,621,784 (GRCm38)	critical splice acceptor site	probably null
R5810:Slc22a6	UTSW	19	8,623,858 (GRCm38)	missense	probably damaging	1.00
R6176:Slc22a6	UTSW	19	8,621,797 (GRCm38)	missense	probably damaging	1.00
R6336:Slc22a6	UTSW	19	8,622,130 (GRCm38)	missense	probably benign	0.02
R6864:Slc22a6	UTSW	19	8,618,441 (GRCm38)	missense	probably damaging	1.00
R7298:Slc22a6	UTSW	19	8,621,320 (GRCm38)	missense	possibly damaging	0.49
R7305:Slc22a6	UTSW	19	8,622,158 (GRCm38)	critical splice donor site	probably null
R7681:Slc22a6	UTSW	19	8,626,129 (GRCm38)	missense	probably benign	0.03
R7749:Slc22a6	UTSW	19	8,621,896 (GRCm38)	missense	possibly damaging	0.48
R7937:Slc22a6	UTSW	19	8,623,889 (GRCm38)	missense	probably benign	0.07
R8346:Slc22a6	UTSW	19	8,621,805 (GRCm38)	missense	probably damaging	1.00
R8347:Slc22a6	UTSW	19	8,621,805 (GRCm38)	missense	probably damaging	1.00
R8348:Slc22a6	UTSW	19	8,621,805 (GRCm38)	missense	probably damaging	1.00
R8363:Slc22a6	UTSW	19	8,619,022 (GRCm38)	missense	probably benign
R8698:Slc22a6	UTSW	19	8,623,525 (GRCm38)	missense	probably benign
R9431:Slc22a6	UTSW	19	8,621,232 (GRCm38)	missense	probably benign	0.10
R9602:Slc22a6	UTSW	19	8,621,196 (GRCm38)	nonsense	probably null
R9774:Slc22a6	UTSW	19	8,625,770 (GRCm38)	missense	probably benign	0.00
Z1088:Slc22a6	UTSW	19	8,621,833 (GRCm38)	missense	probably benign	0.03
Z1176:Slc22a6	UTSW	19	8,623,543 (GRCm38)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TTGTTCCTAGACACCGCCTG -3'
(R):5'- TAGTGACCAGTTTGAGCCCAG -3'

Sequencing Primer
(F):5'- TAGACACCGCCTGAGCTC -3'
(R):5'- TGAGGCTCTCGCAGATCTAC -3'

Posted On

2018-11-28